Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant

Preferred Label : Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant;

Symbol : GHISID2;

CISMeF acronym : GHISID2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the signal transducer and activator of transcription 5B gene (STAT5B, 604260.0006);

Laboratory abnormalities : Decreased serum IGF1;

Prefixed ID : #618985;

Details

Origin ID

618985;

UMLS CUI

C5436546;

Automatic exact mappings (from CISMeF team)
- STAT5B wt Allele [NCIt concept]
DO Cross reference
- growth hormone insensitivity syndrome with immune dysregulation 2 [DO Concept]
Genes related to phenotype
- Signal transducer and activator of transcription 5b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Celiac disease [HPO term]
- Decreased serum insulin-like growth factor 1 [HPO term]
- Delayed puberty [HPO term]
- Delayed skeletal maturation [HPO term]
- Eczema [HPO term]
- Increased circulating IgE level [HPO term]
- Microcephaly [HPO term]
- Postnatal growth retardation [HPO term]
- Recurrent infections [HPO term]
- Short stature [HPO term]
- Thyroiditis [HPO term]
ORDO concept(s)
- Laron syndrome with immunodeficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients