Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction

Preferred Label : Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction;

Symbol : IMD90;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fadd deficiency; Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Fas-associated via death domain gene (FADD, 602457.0001);

Laboratory abnormalities : Increased Fas ligand; Increased interleukin 10;

Prefixed ID : #613759;

Details

Origin ID

613759;

UMLS CUI

C3151062;

Automatic exact mappings (from CISMeF team)
- FADD-related immunodeficiency [ORDO Disease]
Genes related to phenotype
- Fas-associated via death domain [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Death in childhood [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Encephalopathy [HPO term]
- Hepatic bridging fibrosis [HPO term]
- Howell-Jolly bodies [HPO term]
- Left superior vena cava draining directly to the left atrium [HPO term]
- Portal inflammation [HPO term]
- Pulmonary artery atresia [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- FADD-related immunodeficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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