Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive

Preferred Label : Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive;

Symbol : GHISID1;

CISMeF acronym : GHISID1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Laron syndrome due to postreceptor defect; Growth hormone insensitivity due to postreceptor defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the signal transducer and activator of transcription 5B gene (STAT5B, 604260.0001);

Laboratory abnormalities : Decreased IGF1; Decreased IGF-binding protein-3; Decreased IGFALS; Increased serum prolactin (in some patients);

Prefixed ID : #245590;

Details

Origin ID

245590;

UMLS CUI

C5435698;

Currated CISMeF NLP mapping
- Laron syndrome type 2 [MeSH concept]
- Laron syndrome with immunodeficiency [ICD-11 More detail]
- Laron syndrome with immunodeficiency [ORDO Disease]
- Laron syndrome with immunodeficiency (disorder) [SNOMED CT concept]
- laron syndrome type 2 [MeSH Supplementary Concept]
DO Cross reference
- growth hormone insensitivity syndrome with immune dysregulation 1 [DO Concept]
Genes related to phenotype
- Signal transducer and activator of transcription 5b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Concave nasal ridge [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Failure to thrive [HPO term]
- High pitched voice [HPO term]
- Lymphocytic interstitial pneumonia [HPO term]
- Prominent forehead [HPO term]
- Respiratory distress [HPO term]
- Severe short stature [HPO term]
ORDO concept(s)
- Laron syndrome with immunodeficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Laron syndrome type 2 [MeSH concept]
- Laron syndrome with immunodeficiency [ORDO Disease]
- laron syndrome type 2 [MeSH Supplementary Concept]

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