Dorfman-Chanarin disease (Chanarin-Dorfman syndrome; neutral lipid storage disease with ichthyosis) is an autosomal recessive neutral lipid storage disorder caused by biallelic ABHD5 (CGI-58) variants. ABHD5 co-activates adipose triglyceride lipase (ATGL/PNPLA2) for intracellular triacylglycerol hydrolysis; its loss causes cytoplasmic accumulation of triacylglycerol droplets in most tissues, with nonbullous congenital ichthyosiform erythroderma, hepatic steatosis, myopathy, cataracts, sensorineural hearing loss, and the pathognomonic Jordans' anomaly (lipid vacuoles in circulating leukocytes).
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name: Dorfman-Chanarin Disease
creation_date: "2026-06-13T00:00:00Z"
description: >-
Dorfman-Chanarin disease (Chanarin-Dorfman syndrome; neutral lipid storage disease with
ichthyosis) is an autosomal recessive neutral lipid storage disorder caused by biallelic
ABHD5 (CGI-58) variants. ABHD5 co-activates adipose triglyceride lipase (ATGL/PNPLA2) for
intracellular triacylglycerol hydrolysis; its loss causes cytoplasmic accumulation of
triacylglycerol droplets in most tissues, with nonbullous congenital ichthyosiform
erythroderma, hepatic steatosis, myopathy, cataracts, sensorineural hearing loss, and the
pathognomonic Jordans' anomaly (lipid vacuoles in circulating leukocytes).
synonyms:
- Chanarin-Dorfman syndrome
- neutral lipid storage disease with ichthyosis
- NLSDI
- triglyceride storage disease with ichthyosis
category: Mendelian
disease_term:
preferred_term: Dorfman-Chanarin disease
term:
id: MONDO:0010155
label: Dorfman-Chanarin disease
mappings:
mondo_mappings:
- term:
id: MONDO:0010155
label: Dorfman-Chanarin disease
mapping_predicate: skos:exactMatch
mapping_source: MONDO
parents:
- Neutral Lipid Storage Disease
inheritance:
- name: Autosomal recessive
inheritance_term:
preferred_term: Autosomal recessive inheritance
term:
id: HP:0000007
label: Autosomal recessive inheritance
evidence:
- reference: PMID:37746493
reference_title: "Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Chanarin-Dorfman syndrome (CDS) is a rare medical condition that is inherited in an autosomal recessive pattern"
explanation: CDS is inherited in an autosomal recessive manner.
pathophysiology:
- name: ABHD5/CGI-58 Deficiency and Loss of ATGL Co-activation
description: >-
Biallelic ABHD5 (CGI-58) variants eliminate the co-activator of adipose triglyceride
lipase (ATGL/PNPLA2). ABHD5 itself lacks hydrolase activity but is required to activate
PNPLA-family triacylglycerol lipolysis.
gene:
preferred_term: ABHD5
term:
id: hgnc:21396
label: ABHD5
biological_processes:
- preferred_term: triglyceride catabolic process
term:
id: GO:0019433
label: triglyceride catabolic process
modifier: DECREASED
evidence:
- reference: PMID:36355098
reference_title: "ABHD5-A Regulator of Lipid Metabolism Essential for Diverse Cellular Functions."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "it functions as a co-activating enzyme of\nthe patatin-like phospholipase domain-containing (PNPLA) protein family that is\ninvolved in triacylglycerol"
explanation: ABHD5 co-activates PNPLA-family lipases (ATGL) for triacylglycerol hydrolysis; its loss blocks lipolysis.
downstream:
- target: Cytoplasmic Triacylglycerol Droplet Accumulation
description: Loss of ATGL co-activation prevents triacylglycerol hydrolysis, so TG droplets accumulate.
- name: Cytoplasmic Triacylglycerol Droplet Accumulation
description: >-
Undegraded triacylglycerol accumulates as cytoplasmic lipid droplets in most tissues,
including skin, liver, muscle, leukocytes, eye, and CNS, driving the multisystem disease.
biological_processes:
- preferred_term: lipid storage
term:
id: GO:0019915
label: lipid storage
modifier: INCREASED
cell_types:
- preferred_term: neutrophil
term:
id: CL:0000775
label: neutrophil
evidence:
- reference: PMID:21122093
reference_title: "Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "an intracellular accumulation of triacylglycerol (TG) droplets in most tissues"
explanation: Intracellular triacylglycerol droplet accumulation in most tissues is the defining lesion of CDS.
phenotypes:
- name: Ichthyosis
description: Nonbullous congenital ichthyosiform erythroderma is the presenting cutaneous feature.
phenotype_term:
preferred_term: Ichthyosis
term:
id: HP:0008064
label: Ichthyosis
evidence:
- reference: PMID:37746493
reference_title: "Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "CDS patients present with a characteristic dermatological finding, ichthyosis, which is a non-bullous white scaling of the skin"
explanation: Nonbullous ichthyosis is the hallmark cutaneous feature of CDS.
- name: Hepatic steatosis and hepatomegaly
description: Hepatic involvement with steatosis and hepatomegaly from triglyceride storage.
phenotype_term:
preferred_term: Hepatic steatosis
term:
id: HP:0001397
label: Hepatic steatosis
evidence:
- reference: PMID:21122093
reference_title: "Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "The clinical phenotype involves multiple organs and systems,\nincluding liver, eyes, ears, skeletal muscle and central nervous system (CNS)"
explanation: Liver is among the multiple organs involved in CDS.
- name: Myopathy
description: Skeletal muscle involvement with lipid-storage myopathy.
phenotype_term:
preferred_term: Myopathy
term:
id: HP:0003198
label: Myopathy
evidence:
- reference: PMID:21122093
reference_title: "Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "The clinical phenotype involves multiple organs and systems,\nincluding liver, eyes, ears, skeletal muscle and central nervous system (CNS)"
explanation: Skeletal muscle is among the organs involved in CDS.
- name: Cataract
description: Cataracts reflect ocular lipid involvement.
phenotype_term:
preferred_term: Cataract
term:
id: HP:0000518
label: Cataract
evidence:
- reference: PMID:21122093
reference_title: "Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "The clinical phenotype involves multiple organs and systems,\nincluding liver, eyes, ears, skeletal muscle and central nervous system (CNS)"
explanation: The eyes are among the organs involved in CDS, with cataract a recognized feature.
- name: Sensorineural hearing loss
description: Hearing impairment reflects involvement of the ears.
phenotype_term:
preferred_term: Sensorineural hearing impairment
term:
id: HP:0000407
label: Sensorineural hearing impairment
evidence:
- reference: PMID:21122093
reference_title: "Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "The clinical phenotype involves multiple organs and systems,\nincluding liver, eyes, ears, skeletal muscle and central nervous system (CNS)"
explanation: The ears are among the organs involved in CDS, with sensorineural hearing loss reported.
- name: Hepatomegaly
description: Hepatomegaly with hepatic steatosis is a frequent visceral feature.
phenotype_term:
preferred_term: Hepatomegaly
term:
id: HP:0002240
label: Hepatomegaly
evidence:
- reference: PMID:33985321
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "non-bullous congenital ichthyosiform eritrhoderma (NCIE), hepatomegaly and liver\nsteatosis"
explanation: Hepatomegaly with liver steatosis is a characteristic feature of CDS.
- name: Splenomegaly
description: Splenomegaly accompanies the hepatic involvement.
phenotype_term:
preferred_term: Splenomegaly
term:
id: HP:0001744
label: Splenomegaly
evidence:
- reference: PMID:33985321
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "compatible with grade I hepatic steatosis and splenomegaly (153 mm)"
explanation: Splenomegaly is reported in CDS patients.
biochemical:
- name: Jordans' anomaly (leukocyte lipid vacuoles)
presence: INCREASED
context: >-
Cytoplasmic triglyceride-laden vacuoles in circulating neutrophils/leukocytes (Jordans'
anomaly) on a peripheral blood smear are the pathognomonic diagnostic finding.
evidence:
- reference: PMID:37746493
reference_title: "Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "a comparative gene identification-58 gene mutation causes the accumulation of triglycerides in neutrophils, which can be observed as vacuoles on a peripheral smear"
explanation: Triglyceride-laden leukocyte vacuoles (Jordans' anomaly) are the pathognomonic peripheral-smear finding.
genetic:
- name: ABHD5 pathogenic variants
gene_term:
preferred_term: ABHD5
term:
id: hgnc:21396
label: ABHD5
association: Causative
notes: >-
Biallelic ABHD5/CGI-58 variants cause CDS; nonsense, missense, frameshift, splice-site,
and large genomic deletions have all been reported.
evidence:
- reference: PMID:21122093
reference_title: "Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Mutations in ABHD5/CGI58 gene are associated with CDS"
explanation: ABHD5/CGI-58 is the causative gene for CDS.
diagnosis:
- name: Peripheral smear and ABHD5 sequencing
description: >-
Diagnosis is suggested by Jordans' anomaly (lipid vacuoles in leukocytes) on a peripheral
blood smear and confirmed by ABHD5 molecular testing.
diagnosis_term:
preferred_term: clinical laboratory procedure
term:
id: MAXO:0000006
label: clinical laboratory procedure
evidence:
- reference: PMID:37746493
reference_title: "Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "the accumulation of triglycerides in neutrophils, which can be observed as vacuoles on a peripheral smear"
explanation: Leukocyte lipid vacuoles on peripheral smear are the key diagnostic clue.
treatments:
- name: Supportive and Dermatologic Care
description: >-
No disease-modifying therapy exists; management is supportive, including skin care/topical
emollients for ichthyosis and dietary fat modification.
treatment_term:
preferred_term: supportive care
term:
id: MAXO:0000950
label: supportive care
evidence:
- reference: PMID:33985321
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "A low triglyceride diet supplemented with MCT oil was recommended to ameliorate hepatic and skin conditions"
explanation: A low-triglyceride diet with MCT oil is recommended to ameliorate the hepatic and skin manifestations.
- name: Acitretin
description: Systemic acitretin improves the ichthyosiform skin lesions.
therapeutic_modality: SMALL_MOLECULE
treatment_term:
preferred_term: Pharmacotherapy
term:
id: NCIT:C15986
label: Pharmacotherapy
evidence:
- reference: PMID:33985321
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "After 3 months of systemic acitretin treatment (25 mg/day), skin lesions of patient improved"
explanation: Systemic acitretin improved the skin lesions in a CDS patient.
- name: Low-Triglyceride Diet with MCT Oil
description: A low-triglyceride diet supplemented with medium-chain triglyceride oil ameliorates hepatic and skin disease.
treatment_term:
preferred_term: dietary intervention
term:
id: MAXO:0000088
label: dietary intervention
evidence:
- reference: PMID:33985321
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "A low triglyceride diet supplemented with MCT oil was recommended to ameliorate hepatic and skin conditions"
explanation: A low-triglyceride/MCT diet is a recommended dietary intervention in CDS.
references:
- reference: PMID:33985321
title: "Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman syndrome."
Question: You are an expert researcher providing comprehensive, well-cited information.
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Dorfman–Chanarin disease (more commonly Chanarin–Dorfman syndrome, CDS) is a multisystem autosomal-recessive neutral-lipid storage disorder characterized by congenital ichthyosis plus systemic triacylglycerol (TAG) accumulation in cytoplasmic lipid droplets across multiple tissues. (redaelli2010clinicalandgenetic pages 1-2, fischer2023syndromicichthyoses pages 6-7)
| Topic | Key facts | Ontology/identifier suggestions | Key citations |
|---|---|---|---|
| Disease definition | Rare autosomal recessive neutral lipid storage disorder with ichthyosis; characterized by intracellular triacylglycerol accumulation in multiple tissues and non-bullous congenital ichthyosiform erythroderma/ichthyosis. Common alternate names: Chanarin–Dorfman syndrome (CDS), Dorfman–Chanarin syndrome, neutral lipid storage disease with ichthyosis (NLSDI). (demerjian2006barrierdysfunctionand pages 1-2, redaelli2010clinicalandgenetic pages 1-2, fischer2023syndromicichthyoses pages 6-7) | OMIM/MIM: 275630; ICD-10: E75.5; MONDO: not found in retrieved evidence; MeSH: not found in retrieved evidence; Orphanet: placeholder only in retrieved evidence | Demerjian 2006 DOI:10.1038/sj.jid.5700332 URL:https://doi.org/10.1038/sj.jid.5700332; Redaelli 2010 DOI:10.1186/1750-1172-5-33 URL:https://doi.org/10.1186/1750-1172-5-33; Fischer 2023 DOI:10.1515/medgen-2023-2006 URL:https://doi.org/10.1515/medgen-2023-2006 (demerjian2006barrierdysfunctionand pages 1-2, redaelli2010clinicalandgenetic pages 1-2, fischer2023syndromicichthyoses pages 6-7) |
| Causal gene and inheritance | Caused by biallelic ABHD5 variants; ABHD5 encodes CGI-58, a co-activator of ATGL/PNPLA2. Loss of ABHD5 impairs triglyceride hydrolysis, causing lipid-droplet accumulation. Autosomal recessive inheritance is consistently reported. ABHD5 gene MIM 604780 noted in retrieved evidence. (elsayed2023anovelabhd5 pages 1-3, redaelli2010clinicalandgenetic pages 1-2, fischer2023syndromicichthyoses pages 6-7, schratter2022abhd5—aregulatorof pages 2-4) | Gene: ABHD5/CGI-58; OMIM gene: 604780; Disease OMIM: 275630 | Elsayed 2023 DOI:10.1016/j.gendis.2022.08.005 URL:https://doi.org/10.1016/j.gendis.2022.08.005; Redaelli 2010 DOI:10.1186/1750-1172-5-33 URL:https://doi.org/10.1186/1750-1172-5-33; Schratter 2022 DOI:10.3390/metabo12111015 URL:https://doi.org/10.3390/metabo12111015 (elsayed2023anovelabhd5 pages 1-3, redaelli2010clinicalandgenetic pages 1-2, schratter2022abhd5—aregulatorof pages 2-4) |
| Epidemiology and reported case counts | Extremely rare. Reported counts have increased over time in the literature surveyed: ~55 cases by 2010; 128 reported patients with 85 molecularly confirmed by 2021 in one review; 151 reported patients worldwide by 2021; fewer than 120 cases stated in one 2023 case report/review, reflecting source-to-source update differences. Largest single-country cohort in retrieved evidence: 40 Turkish cases. (redaelli2010clinicalandgenetic pages 1-2, waheed2021chanarin–dorfmansyndromeclinicalgenetic pages 1-2, tavian2021recurrentn209*abhd5 pages 1-2, mangukiya2023chanarindorfmansyndrome(cds) pages 1-2) | Rare disease; prevalence not provided in retrieved evidence | Redaelli 2010 DOI:10.1186/1750-1172-5-33 URL:https://doi.org/10.1186/1750-1172-5-33; Waheed 2021 DOI:10.1186/s43042-021-00189-2 URL:https://doi.org/10.1186/s43042-021-00189-2; Tavian 2021 DOI:10.4081/ejtm.2021.9796 URL:https://doi.org/10.4081/ejtm.2021.9796; Mangukiya 2023 DOI:10.7759/cureus.43889 URL:https://doi.org/10.7759/cureus.43889 (redaelli2010clinicalandgenetic pages 1-2, waheed2021chanarin–dorfmansyndromeclinicalgenetic pages 1-2, tavian2021recurrentn209*abhd5 pages 1-2, mangukiya2023chanarindorfmansyndrome(cds) pages 1-2) |
| Core clinical phenotype | Skin involvement is the dominant and often universal feature: congenital ichthyosis/NCIE; some patients are born as collodion babies; pruritus may be intense. Multisystem features include hepatomegaly/steatosis, myopathy or muscle weakness, hearing loss, cataracts/other ocular findings, CNS involvement, and occasional cardiomyopathy. (fischer2023syndromicichthyoses pages 6-7, mangukiya2023chanarindorfmansyndrome(cds) pages 1-2, elsayed2023anovelabhd5 pages 1-3, elammari2024considerhypertriglyceridemiain pages 1-2) | Suggested phenotype labels: congenital ichthyosis; hepatomegaly; hepatic steatosis; myopathy; cataract; sensorineural hearing loss | Fischer 2023 DOI:10.1515/medgen-2023-2006 URL:https://doi.org/10.1515/medgen-2023-2006; Mangukiya 2023 DOI:10.7759/cureus.43889 URL:https://doi.org/10.7759/cureus.43889; Elsayed 2023 DOI:10.1016/j.gendis.2022.08.005 URL:https://doi.org/10.1016/j.gendis.2022.08.005; El-Ammari 2024 DOI:10.7241/ourd.20244.22 URL:https://doi.org/10.7241/ourd.20244.22 (fischer2023syndromicichthyoses pages 6-7, mangukiya2023chanarindorfmansyndrome(cds) pages 1-2, elsayed2023anovelabhd5 pages 1-3, elammari2024considerhypertriglyceridemiain pages 1-2) |
| Phenotype frequencies/statistics | Retrieved reviews/case summaries report: hepatomegaly 60%, myopathy 59%, ectropion 29%, cataract 22%, deafness 17%, splenomegaly 13%; liver involvement reported in >80% in one 2023 paper and about 85% in a 2021 cohort review; neurological symptoms in ~30%; muscle involvement 40% in one series. In genotype-stratified data, severe/truncating ABHD5 variants were associated with 36% myopathy and 67.5% CK elevation vs 15% and 30% for missense variants. (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6, elsayed2023anovelabhd5 pages 1-3, tavian2021recurrentn209*abhd5 pages 4-6) | Frequency data from aggregated literature, not formal registry prevalence | Mangukiya 2023 DOI:10.7759/cureus.43889 URL:https://doi.org/10.7759/cureus.43889; Elsayed 2023 DOI:10.1016/j.gendis.2022.08.005 URL:https://doi.org/10.1016/j.gendis.2022.08.005; Tavian 2021 DOI:10.4081/ejtm.2021.9796 URL:https://doi.org/10.4081/ejtm.2021.9796 (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6, elsayed2023anovelabhd5 pages 1-3, tavian2021recurrentn209*abhd5 pages 4-6) |
| Diagnostic hallmark | Jordans’ anomaly—lipid vacuoles in granulocytes/leukocytes on peripheral blood smear—is the classic, simple diagnostic hallmark; reported as demonstrable by May–Grünwald–Giemsa/peripheral smear and considered characteristic/pathognomonic in multiple sources. Tissue biopsies can show neutral lipid droplets in skin, liver, muscle, kidney tubular epithelium, and other cells. (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6, waheed2021chanarin–dorfmansyndromeclinicalgenetic pages 1-2, fischer2023syndromicichthyoses pages 6-7, agrebi2023dorfman–chanarinsyndromewith pages 1-2) | Suggested diagnostic label: Jordans’ anomaly; peripheral smear for lipid vacuoles | Waheed 2021 DOI:10.1186/s43042-021-00189-2 URL:https://doi.org/10.1186/s43042-021-00189-2; Mangukiya 2023 DOI:10.7759/cureus.43889 URL:https://doi.org/10.7759/cureus.43889; Fischer 2023 DOI:10.1515/medgen-2023-2006 URL:https://doi.org/10.1515/medgen-2023-2006; Agrebi 2023 DOI:10.4103/ijn.ijn_203_22 URL:https://doi.org/10.4103/ijn.ijn_203_22 (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6, waheed2021chanarin–dorfmansyndromeclinicalgenetic pages 1-2, fischer2023syndromicichthyoses pages 6-7, agrebi2023dorfman–chanarinsyndromewith pages 1-2) |
| Laboratory, imaging, pathology | Serum lipids may be normal, but liver enzymes and CK/CPK are often elevated; muscle enzymes elevated in >50% in one 2024 report. Imaging/pathology may show fatty liver, hepatomegaly, fibrosis/cirrhosis; kidney biopsy can reveal mesangial proliferative glomerulonephritis with extensive tubular lipid vacuoles in rare renal involvement. Skin barrier studies showed abnormal basal TEWL and SC integrity with lipid micro-inclusions in lamellar bodies. (redaelli2010clinicalandgenetic pages 1-2, elammari2024considerhypertriglyceridemiain pages 1-2, agrebi2023dorfman–chanarinsyndromewith pages 1-2, demerjian2006barrierdysfunctionand pages 1-2) | Suggested workup: AST/ALT/GGT, CK/CPK, liver ultrasound/FibroScan, biopsy if indicated | Redaelli 2010 DOI:10.1186/1750-1172-5-33 URL:https://doi.org/10.1186/1750-1172-5-33; El-Ammari 2024 DOI:10.7241/ourd.20244.22 URL:https://doi.org/10.7241/ourd.20244.22; Agrebi 2023 DOI:10.4103/ijn.ijn_203_22 URL:https://doi.org/10.4103/ijn.ijn_203_22; Demerjian 2006 DOI:10.1038/sj.jid.5700332 URL:https://doi.org/10.1038/sj.jid.5700332 (redaelli2010clinicalandgenetic pages 1-2, elammari2024considerhypertriglyceridemiain pages 1-2, agrebi2023dorfman–chanarinsyndromewith pages 1-2, demerjian2006barrierdysfunctionand pages 1-2) |
| Variant spectrum | Retrieved evidence notes substantial allelic heterogeneity. Counts vary by publication date: 45 different ABHD5 mutations reported in one 2023 paper; at least 78 mutations in a 2023 review/case report; many mutation classes reported, including nonsense, missense, frameshift, splice-site, large deletions, and promoter/complex rearrangements. 77% of variants were truncating in one 2023 source. Recurrent N209* is especially common, accounting for 52% (21/40) of Turkish cases and 16% (24/151) of all reported cases in one 2021 review. (elsayed2023anovelabhd5 pages 1-3, mangukiya2023chanarindorfmansyndrome(cds) pages 5-6, tavian2021recurrentn209*abhd5 pages 1-2, redaelli2010clinicalandgenetic pages 1-2) | Variant classes: truncating, missense, frameshift, splice-site, large deletion | Elsayed 2023 DOI:10.1016/j.gendis.2022.08.005 URL:https://doi.org/10.1016/j.gendis.2022.08.005; Mangukiya 2023 DOI:10.7759/cureus.43889 URL:https://doi.org/10.7759/cureus.43889; Tavian 2021 DOI:10.4081/ejtm.2021.9796 URL:https://doi.org/10.4081/ejtm.2021.9796; Redaelli 2010 DOI:10.1186/1750-1172-5-33 URL:https://doi.org/10.1186/1750-1172-5-33 (elsayed2023anovelabhd5 pages 1-3, mangukiya2023chanarindorfmansyndrome(cds) pages 5-6, tavian2021recurrentn209*abhd5 pages 1-2, redaelli2010clinicalandgenetic pages 1-2) |
| Mechanism / pathophysiology | ABHD5/CGI-58 normally activates ATGL-mediated lipolysis and also interfaces with epidermal lipid metabolism; deficiency causes TAG accumulation in cytoplasmic lipid droplets across tissues and contributes to skin-barrier dysfunction. J Invest Dermatol data linked epidermal disease to lamellar-body lipid micro-inclusions, non-lamellar extracellular lipid phases, abnormal barrier function, and increased transepidermal water loss. (demerjian2006barrierdysfunctionand pages 1-2, fischer2023syndromicichthyoses pages 6-7, schratter2022abhd5—aregulatorof pages 2-4) | Mechanistic axis: ABHD5/CGI-58 → ATGL/PNPLA2 activation → triglyceride hydrolysis | Demerjian 2006 DOI:10.1038/sj.jid.5700332 URL:https://doi.org/10.1038/sj.jid.5700332; Fischer 2023 DOI:10.1515/medgen-2023-2006 URL:https://doi.org/10.1515/medgen-2023-2006; Schratter 2022 DOI:10.3390/metabo12111015 URL:https://doi.org/10.3390/metabo12111015 (demerjian2006barrierdysfunctionand pages 1-2, fischer2023syndromicichthyoses pages 6-7, schratter2022abhd5—aregulatorof pages 2-4) |
| Notable atypical/less common manifestations | Rare or less common manifestations in retrieved evidence include renal involvement/nephrotic syndrome, thyroid dysfunction in adults from a founder-mutation series, possible cardiomyopathy, cerebellar/white-matter abnormalities, developmental delay, and severe CNS malformations in isolated case reports. (agrebi2023dorfman–chanarinsyndromewith pages 1-2, elsayed2023anovelabhd5 pages 3-4) | Multisystem disease; no separate identifier in retrieved evidence | Agrebi 2023 DOI:10.4103/ijn.ijn_203_22 URL:https://doi.org/10.4103/ijn.ijn_203_22; Elsayed 2023 DOI:10.1016/j.gendis.2022.08.005 URL:https://doi.org/10.1016/j.gendis.2022.08.005 (agrebi2023dorfman–chanarinsyndromewith pages 1-2, elsayed2023anovelabhd5 pages 3-4) |
| Current management | No disease-specific approved therapy was identified in retrieved evidence. Management is supportive/multidisciplinary: low-fat or low-long-chain-fat diet, medium-chain triglyceride (MCT) oil supplementation, vitamin E, ursodeoxycholic acid, topical emollients, and selective use of acitretin for ichthyosis with monitoring. One case summary reported normalization of enzymes/loss of inclusions and 50% liver-size reduction after 1 year on dietary/supportive therapy. Expert reviews emphasize early diagnosis for management of metabolic/cardiac complications and genetic counseling. (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6, elammari2024considerhypertriglyceridemiain pages 1-2, waheed2021chanarin–dorfmansyndromeclinicalgenetic pages 1-2, tavian2021recurrentn209*abhd5 pages 4-6, fischer2023syndromicichthyoses pages 6-7) | Supportive care; dietary therapy; dermatologic treatment | Mangukiya 2023 DOI:10.7759/cureus.43889 URL:https://doi.org/10.7759/cureus.43889; El-Ammari 2024 DOI:10.7241/ourd.20244.22 URL:https://doi.org/10.7241/ourd.20244.22; Waheed 2021 DOI:10.1186/s43042-021-00189-2 URL:https://doi.org/10.1186/s43042-021-00189-2; Tavian 2021 DOI:10.4081/ejtm.2021.9796 URL:https://doi.org/10.4081/ejtm.2021.9796; Fischer 2023 DOI:10.1515/medgen-2023-2006 URL:https://doi.org/10.1515/medgen-2023-2006 (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6, elammari2024considerhypertriglyceridemiain pages 1-2, waheed2021chanarin–dorfmansyndromeclinicalgenetic pages 1-2, tavian2021recurrentn209*abhd5 pages 4-6, fischer2023syndromicichthyoses pages 6-7) |
| Real-world implementations / research infrastructure | An international observational registry for NLSD/TGCV and related diseases is recruiting (NCT02918032, target enrollment ~120), capturing NLSDI/CDS and NLSDM with longitudinal outcomes including survival, CK, liver tests, thyroid tests, imaging, function, and biopsy data. Interventional studies retrieved are focused mainly on NLSDM/PNPLA2 rather than ABHD5-NLSDI: bezafibrate Phase 4 (NCT01527318) and CNT-02 medium-chain fatty acid capsules (NCT02830763, terminated). (NCT02918032 chunk 1, NCT02830763 chunk 1, NCT01527318 chunk 1, NCT02918032 chunk 2, NCT02830763 chunk 2) | ClinicalTrials.gov: NCT02918032, NCT01527318, NCT02830763 | ClinicalTrials.gov NCT02918032 URL:https://clinicaltrials.gov/study/NCT02918032; NCT01527318 URL:https://clinicaltrials.gov/study/NCT01527318; NCT02830763 URL:https://clinicaltrials.gov/study/NCT02830763 (NCT02918032 chunk 1, NCT02830763 chunk 1, NCT01527318 chunk 1, NCT02918032 chunk 2, NCT02830763 chunk 2) |
Table: This table compiles the core identifiers, genetics, phenotypes, diagnostics, pathophysiology, management, and registry/trial landscape for Dorfman–Chanarin disease/Chanarin–Dorfman syndrome (NLSDI) using only the retrieved evidence. It is designed as a compact reference for building a disease knowledge base entry.
CDS/NLSDI is an inborn error of neutral lipid metabolism in which defective intracellular lipolysis leads to TAG accumulation in leukocytes and parenchymal tissues, producing a hallmark blood-smear finding (Jordan’s anomaly) and a clinical spectrum dominated by congenital ichthyosis and frequent hepatic involvement. (redaelli2010clinicalandgenetic pages 1-2, fischer2023syndromicichthyoses pages 6-7)
The retrieved evidence is dominated by aggregated disease-level reviews, case reports/series (pediatric and adult), and mechanistic studies (human tissue/cell studies and mouse models). (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6, agrebi2023dorfman–chanarinsyndromewith pages 1-2, demerjian2006barrierdysfunctionand pages 1-2, schratter2022abhd5—aregulatorof pages 2-4)
Primary cause (genetic): biallelic pathogenic variants in ABHD5 (also known as CGI-58) cause CDS/NLSDI. (redaelli2010clinicalandgenetic pages 1-2, schratter2022abhd5—aregulatorof pages 2-4)
Core biochemical defect: ABHD5 is required for efficient intracellular TAG breakdown by co-activating patatin-like phospholipases, particularly ATGL/PNPLA2. Mechanistically, Schratter et al. summarize that ABHD5 “specifically interacts with ATGL and stimulates its TAG hydrolase activity many-fold in vitro” and that “During lipolysis, ATGL requires the presence of ABHD5 to efficiently hydrolyze TAG.” (schratter2022abhd5—aregulatorof pages 4-5)
Skin-specific causal axis: ABHD5 also acts as a co-activator of PNPLA1 in epidermal acylceramide (acylCer) formation; mutant ABHD5 linked to NLSDI fails to accelerate PNPLA1-mediated acylCer biosynthesis, contributing to barrier failure and ichthyosis. (schratter2022abhd5—aregulatorof pages 13-15, schratter2022abhd5—aregulatorof pages 12-13)
No environmental, infectious, or lifestyle risk factors were identified in the retrieved evidence.
No protective genetic variants or gene–environment interaction evidence was identified in the retrieved corpus.
Aggregated literature summaries in the retrieved 2023 Cureus report list the following approximate frequencies among reported individuals: * Hepatomegaly: ~60% (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6) * Myopathy: ~59% (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6) * Ectropion: ~29% (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6) * Cataract: ~22% (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6) * Deafness: ~17% (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6) * Splenomegaly: ~13% (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6)
A separate 2023 case-series paper reports broad system involvement frequencies as: liver involvement “more than 80%,” muscle involvement “40%,” and neurological symptoms “almost 30%.” (elsayed2023anovelabhd5 pages 1-3)
A 2021 cohort review further supports genotype-associated expressivity: severe/truncating ABHD5 variants were associated with higher rates of myopathy (36%) and CK elevation (67.5%) compared with missense variants (15% and 30%, respectively). (tavian2021recurrentn209*abhd5 pages 4-6)
(These are ontology suggestions; the cited sources describe the clinical features but do not supply HPO mappings.)
Across studies, ABHD5 pathogenic variants include nonsense, frameshift, splice-site, missense, and large genomic deletions. (redaelli2010clinicalandgenetic pages 1-2, redaelli2010clinicalandgenetic pages 2-3, tavian2021recurrentn209*abhd5 pages 1-2)
Truncating predominance: One 2023 report states that ~77% of ABHD5 variants reported in CDS were truncating. (elsayed2023anovelabhd5 pages 1-3)
Recurrent variant: The truncating N209* variant is repeatedly highlighted as common; a 2021 review reports N209* in 52% (21/40) of Turkish cases and 16% (24/151) of reported CDS cases. (tavian2021recurrentn209*abhd5 pages 1-2)
Large deletions / genetic heterogeneity: Redaelli et al. (2010) reported the first large deletions in ABHD5 and also described a clinically diagnosed patient without detectable ABHD5 mutations, suggesting possible genetic heterogeneity. (redaelli2010clinicalandgenetic pages 1-2, redaelli2010clinicalandgenetic pages 2-3)
The dominant disease mechanism is loss of ABHD5 co-activation of intracellular lipases, causing impaired TAG hydrolysis and lipid droplet accumulation. (schratter2022abhd5—aregulatorof pages 4-5, elsayed2023anovelabhd5 pages 1-3)
No modifier genes or epigenetic mechanisms were identified in the retrieved evidence.
No consistent non-genetic environmental contributors (toxins, exposures, infectious triggers) were identified in the retrieved evidence corpus.
Demerjian et al. (2006) studied NLSDI patients and describe the disease as characterized by neutral lipid droplet accumulation (oil red O–positive TAG droplets) and pruritic ichthyosiform erythroderma, linking the disorder to epidermal lipid-processing defects and barrier dysfunction. (demerjian2006barrierdysfunctionand pages 1-2)
ABHD5 is positioned as a ligand-regulated lipase co-activator that coordinates lipid-droplet protein interactions and lipid flux: * Interacts with perilipins (PLIN1/3/5) and can be modulated by ligands that alter PLIN binding, influencing lipolysis. (schratter2022abhd5—aregulatorof pages 9-10) * Interacts with FABP4 (adipocyte FABP), which supports ATGL activity in an ABHD5-dependent fashion. (schratter2022abhd5—aregulatorof pages 9-10) * Co-activates PNPLA1 to promote ω-O-acylceramide synthesis, essential for the epidermal barrier. (schratter2022abhd5—aregulatorof pages 13-15, schratter2022abhd5—aregulatorof pages 12-13)
(These are ontology suggestions; UBERON IDs are not provided in the cited papers.)
Autosomal recessive inheritance is consistently reported. (mangukiya2023chanarindorfmansyndrome(cds) pages 1-2, redaelli2010clinicalandgenetic pages 1-2)
Prevalence/incidence estimates were not found in the retrieved evidence; however, multiple sources provide case-count–based rarity estimates: * ~55 cases reported by 2010. (redaelli2010clinicalandgenetic pages 1-2) * 128 reported patients (with 85 molecularly confirmed) cited in a 2021 cohort study. (waheed2021chanarin–dorfmansyndromeclinicalgenetic pages 1-2) * 151 reported patients worldwide cited in a 2021 review; largest single-country cohort noted as 40 cases in Turkey. (tavian2021recurrentn209abhd5 pages 1-2) * A 2023 clinical review notes <120 cases reported* and concentration in Mediterranean/Middle East populations (reflecting timing/source differences). (mangukiya2023chanarindorfmansyndrome(cds) pages 1-2)
Hallmark test (high-yield, low-cost): peripheral blood smear demonstrating lipid vacuoles in granulocytes/leukocytes (Jordan’s anomaly). A 2023 review emphasizes “a simple peripheral blood smear showing lipid droplets in granulocytes (Jordan anomaly).” (fischer2023syndromicichthyoses pages 6-7)
Supportive laboratory findings: elevated liver enzymes and/or CK/CPK can be present; muscle enzymes are reported as elevated in >50% of cases in one 2024 report. (elammari2024considerhypertriglyceridemiain pages 1-2)
Histopathology: may demonstrate neutral lipid accumulation in tissue biopsies. Examples include liver biopsy showing marked macrovesicular steatosis and fibrosis (with early cirrhosis considered) in a 2023 pediatric case, and kidney biopsy showing tubular lipid vacuoles in a rare renal presentation. (mangukiya2023chanarindorfmansyndrome(cds) pages 2-5, agrebi2023dorfman–chanarinsyndromewith pages 1-2)
Diagnosis is confirmed by ABHD5 sequencing in reported cases/series. (mangukiya2023chanarindorfmansyndrome(cds) pages 2-5, waheed2021chanarin–dorfmansyndromeclinicalgenetic pages 1-2)
Variant detection considerations: because large deletions can occur, molecular workups may need deletion/duplication analysis in addition to exon sequencing. (redaelli2010clinicalandgenetic pages 1-2)
Outcome is variable. Severe pediatric phenotypes can be complicated by recurrent infections and early death (e.g., pneumonia complications in one reported child). (elsayed2023anovelabhd5 pages 3-4)
Hepatic disease can progress to fibrosis/cirrhosis and potentially liver failure, and rare adult cases may demonstrate renal complications. (fischer2023syndromicichthyoses pages 6-7, agrebi2023dorfman–chanarinsyndromewith pages 1-2)
No quantitative survival curves or life expectancy estimates were found in the retrieved evidence.
No disease-specific approved therapy was identified in the retrieved evidence; management is symptomatic and preventive for organ complications: * Dietary fat modification with restriction of long-chain fats and use of medium-chain triglycerides (MCT) is frequently described. (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6, tavian2021recurrentn209abhd5 pages 4-6) * Vitamin E and ursodeoxycholic acid (UDCA) are reported as part of supportive regimens with “promising results” in a pediatric cohort. (waheed2021chanarin–dorfmansyndromeclinicalgenetic pages 1-2) * Emollients for skin care are standard. (elammari2024considerhypertriglyceridemiain pages 1-2) * Acitretin may improve ichthyosis in some cases but requires liver/lipid monitoring. (elammari2024considerhypertriglyceridemiain pages 1-2, tavian2021recurrentn209abhd5 pages 4-6)
A 2023 case summary reports a response to dietary/supportive therapy including “50% reduction in liver size after one year” with normalization of enzymes and loss of leukocyte inclusions in a referenced patient experience. (mangukiya2023chanarindorfmansyndrome(cds) pages 5-6)
Clinical trials and registries: * NCT02918032 (ClinicalTrials.gov; registered 2014; recruiting; observational registry): an international registry designed to characterize natural history, prognostic factors, and treatment effectiveness signals in NLSD/TGCV, explicitly including Chanarin–Dorfman syndrome and tracking multisystem outcomes (e.g., CK, liver enzymes, thyroid tests, imaging, function). (NCT02918032 chunk 1, NCT02918032 chunk 2) * Interventional trials in the retrieved corpus are primarily directed to NLSDM (PNPLA2/ATGL) rather than ABHD5-NLSDI: bezafibrate (NCT01527318; registered 2011) and medium-chain fatty acid capsules CNT-02 (NCT02830763; registered 2016; terminated). (NCT01527318 chunk 1, NCT02830763 chunk 1)
Mechanism-driven therapeutic ideas: Schratter et al. describe synthetic ABHD5 ligands that can disrupt ABHD5–PLIN interactions and promote lipolysis, though this is mechanistic and not a validated CDS therapy. (schratter2022abhd5—aregulatorof pages 9-10)
(MAXO IDs not present in retrieved evidence; suggestions only.)
Primary prevention focuses on genetic counseling because CDS is autosomal recessive.
Expert reviews on syndromic ichthyoses emphasize that early diagnosis enables informed reproductive options including prenatal and preimplantation genetic diagnosis for families once the causal variant is known. (fischer2023syndromicichthyoses pages 6-7)
No newborn screening strategies were identified in the retrieved evidence.
No naturally occurring CDS-equivalent disease in non-human species was identified in the retrieved evidence.
A mechanistic review summarizes multiple informative Abhd5 mouse models: * Whole-body Abhd5 knockout: systemic TAG accumulation with ichthyosiform skin phenotype and premature death. (schratter2022abhd5—aregulatorof pages 9-10) * Global/epidermis-specific Abhd5 loss: lethal permeability-barrier defect with death from dehydration and loss of epidermal acylCers. (schratter2022abhd5—aregulatorof pages 12-13) * Liver-specific Abhd5 knockout: pronounced hepatosteatosis progressing to NASH/fibrosis. (schratter2022abhd5—aregulatorof pages 13-15) * Muscle-specific Abhd5 loss: cardiac myopathy and impaired mitochondrial FA oxidation. (schratter2022abhd5—aregulatorof pages 10-12) * Intestine-specific Abhd5 deficiency: massive enterocyte TAG accumulation and altered chylomicron secretion. (schratter2022abhd5—aregulatorof pages 10-12)
NLSDI patient fibroblasts exhibit severe TAG accumulation that can be functionally rescued; Schratter et al. report that “the expression of functional ABHD5 in dermal NLSDI fibroblasts restored the TAG hydrolase activity and reversed the lipid storage phenotype in patient cells.” (schratter2022abhd5—aregulatorof pages 5-7)
References
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(NCT02918032 chunk 1): International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases. Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan. 2014. ClinicalTrials.gov Identifier: NCT02918032
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(NCT02918032 chunk 2): International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases. Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan. 2014. ClinicalTrials.gov Identifier: NCT02918032
(NCT02830763 chunk 2): Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M. Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan. 2016. ClinicalTrials.gov Identifier: NCT02830763
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(schratter2022abhd5—aregulatorof pages 4-5): Margarita Schratter, Achim Lass, and Franz P. W. Radner. Abhd5—a regulator of lipid metabolism essential for diverse cellular functions. Metabolites, 12:1015, Oct 2022. URL: https://doi.org/10.3390/metabo12111015, doi:10.3390/metabo12111015. This article has 26 citations.
(schratter2022abhd5—aregulatorof pages 13-15): Margarita Schratter, Achim Lass, and Franz P. W. Radner. Abhd5—a regulator of lipid metabolism essential for diverse cellular functions. Metabolites, 12:1015, Oct 2022. URL: https://doi.org/10.3390/metabo12111015, doi:10.3390/metabo12111015. This article has 26 citations.
(schratter2022abhd5—aregulatorof pages 12-13): Margarita Schratter, Achim Lass, and Franz P. W. Radner. Abhd5—a regulator of lipid metabolism essential for diverse cellular functions. Metabolites, 12:1015, Oct 2022. URL: https://doi.org/10.3390/metabo12111015, doi:10.3390/metabo12111015. This article has 26 citations.
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(mangukiya2023chanarindorfmansyndrome(cds) pages 2-5): Nisarg P Mangukiya, Safa Kaleem, D Ragasri Meghana, Lyluma Ishfaq, Gunjan Kochhar, Bejoi Mathew, Shivani Pulekar, Aashka C Lainingwala, Mihirkumar P Parmar, and Vishal Venugopal. Chanarin-dorfman syndrome (cds): a rare lipid metabolism disorder. Cureus, Aug 2023. URL: https://doi.org/10.7759/cureus.43889, doi:10.7759/cureus.43889. This article has 3 citations.
(schratter2022abhd5—aregulatorof pages 10-12): Margarita Schratter, Achim Lass, and Franz P. W. Radner. Abhd5—a regulator of lipid metabolism essential for diverse cellular functions. Metabolites, 12:1015, Oct 2022. URL: https://doi.org/10.3390/metabo12111015, doi:10.3390/metabo12111015. This article has 26 citations.
(schratter2022abhd5—aregulatorof pages 9-10): Margarita Schratter, Achim Lass, and Franz P. W. Radner. Abhd5—a regulator of lipid metabolism essential for diverse cellular functions. Metabolites, 12:1015, Oct 2022. URL: https://doi.org/10.3390/metabo12111015, doi:10.3390/metabo12111015. This article has 26 citations.
(schratter2022abhd5—aregulatorof pages 5-7): Margarita Schratter, Achim Lass, and Franz P. W. Radner. Abhd5—a regulator of lipid metabolism essential for diverse cellular functions. Metabolites, 12:1015, Oct 2022. URL: https://doi.org/10.3390/metabo12111015, doi:10.3390/metabo12111015. This article has 26 citations.