Immunodeficiency, developmental delay, and hypohomocysteinemia

Preferred Label : Immunodeficiency, developmental delay, and hypohomocysteinemia;

Symbol : IMDDHH;

CISMeF acronym : IMDDHH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear factor erythroid 2-like 2 gene (NFE2L2, 600492.0001);

Laboratory abnormalities : Decreased creatine; Hypohomocysteinemia; Decreased plasma cysteine;

Prefixed ID : #617744;

Details

Origin ID

617744;

UMLS CUI

C4540293;

Genes related to phenotype
- Nuclear factor erythroid 2-like 2 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased circulating antibody level [HPO term]
- Delayed speech and language development [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Leukoencephalopathy [HPO term]
- Recurrent infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent skin infections [HPO term]
- Short stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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