IEMbase 0784: SLC29A3-related ENT3 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 784 |
| Nosology | 16.3.16.01 |
| Nosology code | IEM0041 |
| Gene | SLC29A3 |
| External IDs | OMIM:602782; ORPHA:254707 |
| Generated mapping | UNMAPPED; best lexical candidate Rosai-Dorfman_Disease.yaml |
| Candidate DisMech targets | Partial context in Rosai-Dorfman_Disease.yaml; no exact broad SLC29A3-spectrum target |
| Review date | 2026-07-11 |
IEMbase phenotype signal
IEMbase labels this autosomal recessive record as SLC29A3-related equilibrative nucleoside transporter 3 deficiency, with alternate names H syndrome, familial Rosai-Dorfman disease, and Faisalabad histiocytosis. The phenotype signal includes histiocytosis involving salivary glands, orbit, eyelid, spleen, or testes; lymphadenopathy; recurrent fever; hypergammaglobulinemia; elevated ESR; leukocytosis; hepatosplenomegaly; panniculitis; hyperpigmentation; hypertrichosis; joint contractures; sensorineural deafness; growth hormone deficiency; insulin-dependent diabetes; female hypergonadotropic hypogonadism; osteosclerosis; bone deformities; and possible intrauterine fractures.
DisMech phenotype coverage
Rosai-Dorfman_Disease.yaml contains relevant SLC29A3 context. It states that
familial RDD is associated with biallelic germline SLC29A3 mutations within the
SLC29A3 spectrum disorder and explicitly mentions familial RDD, Faisalabad
histiocytosis, H syndrome, and PHID. However, the entry is primarily a
Rosai-Dorfman disease model, with clonal MAPK/reactive immune RDD mechanisms,
not a full SLC29A3 spectrum entry.
Concordance and completeness
Judgement: partial local coverage, but no exact target.
The local RDD entry is useful for the familial RDD/Faisalabad histiocytosis arm and for the SLC29A3 gene association. It does not fully cover the broad IEMbase H-syndrome/ENT3-deficiency phenotype, especially endocrine, skeletal, deafness, hyperpigmentation/hypertrichosis, panniculitis, and osteosclerosis features.
Curation actions
- Do not treat
Rosai-Dorfman_Disease.yamlas exact coverage for all of IEMbase 0784. - Use the local RDD entry as partial context for familial RDD and Faisalabad histiocytosis only.
- Future curation should consider a distinct SLC29A3 spectrum or H syndrome entry if broader ENT3-deficiency coverage is desired.