Dorfman-Chanarin disease
MONDO:0010155Mondo
Findings
No curated finding names Dorfman-Chanarin disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- Very frequent (80% to 99% of cases)
- Progressive proximal muscle weaknessHPOHP:0009073
- Very frequent (80% to 99% of cases)
- Abnormal circulating creatine kinase activityHPOHP:0040081
- Frequent (30% to 79% of cases)
- Abnormal granulocyte morphologyHPOHP:0001911
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- CardiomyopathyHPOHP:0001638
- Frequent (30% to 79% of cases)
- EclabionHPOHP:0012472
- Frequent (30% to 79% of cases)
- EctropionHPOHP:0000656
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
Reported absent (2)
- KetosisHPOHP:0001946
- ObesityHPOHP:0001513
Show the remaining 18
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Hepatic steatosisHPOHP:0001397
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Frequent (30% to 79% of cases)
- Increased CSF protein concentrationHPOHP:0002922
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABHD5HGNC:21396
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Dorfman-Chanarin disease
- Also called
- Chanarin-Dorfman Syndromeneutral lipid storage disease with ichthyosisNLSDI