Chanarin-dorfman syndrome

Preferred Label : Chanarin-dorfman syndrome;

Symbol : CDS;

CISMeF acronym : CDS; DCS; NLSDI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyotic neutral lipid storage disease; NLSDI; Ichthyosiform erythroderma with leukocyte vacuolation; DCS; Dorfman-chanarin syndrome; Neutral lipid storage disease with ichthyosis; Chanarin-dorfman disease; Triglyceride storage disease with impaired long-chain fatty acid oxidation;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the abhydrolase domain containing-5, lysophosphatidic acid acyltransferase gene (ABHD5, 604780.0001);

Prefixed ID : #275630;

Details

Origin ID

275630;

UMLS CUI

C0268238;

Automatic exact mappings (from CISMeF team)
- Chanarin-Dorfman syndrome [DO Concept]
- Clinical Decision Support [MeSH concept]
- Creatine deficiency syndrome [ORDO Disease]
- Decisional Conflict Scale [NCIt concept]
- Dorfman-Chanarin disease [ICD-11 More detail]
- neutral lipid storage disease with myopathy [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Chanarin-Dorfman Syndrome [MeSH concept]
- Chanarin-Dorfman Syndrome [MeSH Supplementary Concept]
- Dorfman Chanarin syndrome [Disease (Nov.)]
- Dorfman-Chanarin syndrome [PASCAL descriptor]
- Neutral lipid storage disease with ichthyosis [ORDO Disease]
- Triglyceride storage disease with ichthyosis (disorder) [SNOMED CT concept]
- triglyceride storage disease with ichthyosis [SNOMED Notion]
DO Cross reference
- Chanarin-Dorfman syndrome [DO Concept]
False automatic mappings
- Cadmium [NCIt concept]
- Candela [NCIt concept]
- Celiac disease [ORDO Disease]
- Chad [NCIt concept]
- Cisplatin/Cyclophosphamide Regimen [NCIt concept]
- Clinical diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Cluster of Differentiation [NCIt concept]
- Congo, the Democratic Republic of the [NCIt concept]
- DCX wt Allele [NCIt concept]
- Discontinue [NCIt concept]
- District of Columbia [NCIt concept]
- Doctor of Chiropractic [NCIt concept]
- HLA-DQA1 wt Allele [NCIt concept]
- Lunch [NCIt concept]
- NOD2 wt Allele [NCIt concept]
- candela (qualifier value) [SNOMED CT concept]
Genes related to phenotype
- Abhydrolase domain-containing protein 5, lysophosphatidic acid acyltransferase [OMIM gene]
HPO term(s)
- Abnormality of blood and blood-forming tissues [HPO term]
- Alopecia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Eclabion [HPO term]
- Ectropion [HPO term]
- Everted lower lip vermilion [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Histological abnormality of the skin [HPO term]
- Intellectual disability [HPO term]
- Microtia [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Nonbullous congenital ichthyosis [HPO term]
- Nystagmus [HPO term]
- Sensorineural hearing impairment [HPO term]
- Strabismus [HPO term]
- Subcapsular cataract [HPO term]
ORDO concept(s)
- Neutral lipid storage disease with ichthyosis [ORDO Disease]
Related ORDO disease(s)
- Neutral lipid storage disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chanarin-Dorfman Syndrome [MeSH Supplementary Concept]
- Chanarin-Dorfman Syndrome [MeSH concept]
- Dorfman Chanarin syndrome [Disease (Nov.)]
- Dorfman-Chanarin syndrome [PASCAL descriptor]
- Neutral lipid storage disease [ORDO Disease]
- Neutral lipid storage disease with ichthyosis [ORDO Disease]
- Triglyceride storage disease with ichthyosis (disorder) [SNOMED CT concept]
- triglyceride storage disease with ichthyosis [SNOMED Notion]

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