Isolated growth hormone deficiency, type III, with agammaglobulinemia

Preferred Label : Isolated growth hormone deficiency, type III, with agammaglobulinemia;

Symbol : IGHD3;

CISMeF acronym : IGHD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fleisher syndrome; Ighd III; Hypogammaglobulinemia and isolated growth hormone deficiency, X-linked; Agammaglobulinemia and isolated growth hormone deficiency, X-linked; Growth hormone deficiency with hypogammaglobulinemia, X-linked;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the Bruton tyrosine kinase gene (BTK, 300300.0004);

Laboratory abnormalities : Panhypogammaglobulinemia;

Prefixed ID : #307200;

Details

Origin ID

307200;

UMLS CUI

C0472813;

Automatic exact mappings (from CISMeF team)
- Immunoglobulinemia with isolated somatotropin deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked [MeSH concept]
- Isolated growth hormone deficiency type III [ORDO Disease]
- Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia [ORDO Disease]
- X-linked agammaglobulinemia with growth hormone deficiency (disorder) [SNOMED CT concept]
- hypogammaglobulinemia and isolated growth hormone deficiency, X-linked [MeSH Supplementary Concept]
- isolated growth hormone deficiency type III [DO Concept]
DO Cross reference
- isolated growth hormone deficiency type III [DO Concept]
Genes related to phenotype
- Bruton agammaglobulinemia tyrosine kinase [OMIM gene]
HPO term(s)
- Absent circulating B cells [HPO term]
- Conjunctivitis [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed puberty [HPO term]
- Delayed skeletal maturation [HPO term]
- Diarrhea [HPO term]
- Enteroviral dermatomyositis syndrome [HPO term]
- Enteroviral hepatitis [HPO term]
- Epididymitis [HPO term]
- Hearing impairment [HPO term]
- Infectious encephalitis [HPO term]
- Isolated growth hormone deficiency [HPO term]
- Meningitis [HPO term]
- Panhypogammaglobulinemia [HPO term]
- Pneumonia [HPO term]
- Prostatitis [HPO term]
- Pyoderma [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent enteroviral infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent urinary tract infections [HPO term]
- Septic arthritis [HPO term]
- Short stature [HPO term]
- Sinusitis [HPO term]
- Susceptibility to infection [HPO term]
- Urinary tract infections [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Abnormal T cell count [HPO term]
ORDO concept(s)
- Isolated growth hormone deficiency type III [ORDO Disease]
- Non-acquired isolated growth hormone deficiency [ORDO Disease]
- Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked [MeSH concept]
- Isolated growth hormone deficiency type III [ORDO Disease]
- Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia [ORDO Disease]
- X-linked agammaglobulinemia with growth hormone deficiency (disorder) [SNOMED CT concept]
- hypogammaglobulinemia and isolated growth hormone deficiency, X-linked [MeSH Supplementary Concept]
- isolated growth hormone deficiency type III [DO Concept]

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