| Category | Value | Notes | Evidence |
|---|---|---|---|
| Disease name | CALFAN syndrome | Acronym for low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration | (pqac-00000034, pqac-00000014) |
| Expanded name / defining triad | Low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration | Core syndrome definition used in primary and review literature | (pqac-00000034, pqac-00000014) |
| Alternative disease labels | SCYL1-related disease; SCYL1 deficiency; SCAR21 / spinocerebellar ataxia, autosomal recessive 21 | Literature uses both CALFAN and SCAR21 for overlapping SCYL1-related phenotype spectrum | (pqac-00000015, pqac-00000030) |
| Causal gene | SCYL1 | Encodes SCY1-like pseudokinase 1 | (pqac-00000014, pqac-00000016) |
| Molecular etiology | Biallelic pathogenic variants in SCYL1 | Typically homozygous in consanguineous families, though compound heterozygosity is also reported | (pqac-00000000, pqac-00000001) |
| Inheritance | Autosomal recessive | Mendelian recessive disorder | (pqac-00000007, pqac-00000015) |
| OMIM / MIM | MIM: 616719 | Reported in 2024 review; refers to CALFAN syndrome in provided source context | (pqac-00000014) |
| MONDO ID | Not identified in provided sources | No MONDO identifier was found in the retrieved evidence | (pqac-00000014, pqac-00000016) |
| Orphanet ID | Not identified in provided sources | Not reported in retrieved evidence | (pqac-00000014, pqac-00000016) |
| ICD-10 / ICD-11 | Not identified in provided sources | Not reported in retrieved evidence | (pqac-00000014, pqac-00000016) |
| MeSH | Not identified in provided sources | Not reported in retrieved evidence | (pqac-00000014, pqac-00000016) |
| Key hepatic features | Recurrent low/normal-GGT cholestasis; infantile or early-childhood acute liver failure; hepatomegaly; progressive fibrosis/cirrhosis in some patients | Liver crises are often febrile-illness triggered and may resolve between episodes | (pqac-00000000, pqac-00000034, pqac-00000008) |
| Key neurologic features | Cerebellar ataxia, tremor, gait disorder, peripheral neuropathy, cerebellar atrophy, developmental delay/language delay, occasional seizures | Neurologic manifestations often appear later than liver disease and may progress despite liver transplant | (pqac-00000000, pqac-00000006, pqac-00000008, pqac-00000030) |
| Skeletal / growth features | Short stature, scoliosis, vertebral anomalies, hip dysplasia, delayed bone age, other musculoskeletal abnormalities | Variable expressivity across reported patients | (pqac-00000000, pqac-00000006, pqac-00000035) |
| Pathobiology summary | Intracellular trafficking disorder involving impaired COPI-mediated Golgi-ER retrograde trafficking and Golgi/vesicle homeostasis | SCYL1 loss is linked to trafficking defects; broader mechanistic work implicates Golgi architecture, endolysosomal distribution, and vesicle secretion | (pqac-00000001, pqac-00000017, pqac-00000018) |
| Typical trigger of hepatic crises | Febrile infection / intercurrent illness | Recurrently emphasized across case series and reviews | (pqac-00000000, pqac-00000031, pqac-00000034) |
| Data source type | Aggregated disease-level literature derived from individual case reports/series and reviews | Evidence base is rare-disease literature rather than EHR-derived population datasets | (pqac-00000000, pqac-00000008, pqac-00000014) |


*Table: This table summarizes the main identifiers, synonyms, gene, inheritance pattern, and defining clinical features of CALFAN syndrome from the retrieved evidence. It is useful as a compact normalization reference for a disease knowledge base entry.*