Acid-Labile Subunit Deficiency

Preferred Label : Acid-Labile Subunit Deficiency;

NCIt related terms : ALS Deficiency;

NCIt definition : Reduced serum concentration of the acid-labile subunit (ALS, a protein encoded by the IGFALS gene) of the complex usually comprised of IGF-I, IGFBP-3 and ALS.;

Alternative definition : NICHD: Growth hormone insensitivity/resistance caused by loss-of-function mutation(s) in the IGFALS gene, encoding insulin-like growth factor-binding protein complex acid labile subunit protein (ALS). ALS forms a ternary complex with insulin-like growth factor I (IGF-I) and insulin-like growth factor-binding protein 3 (IGFBP-3), which prolongs the half life of both IGF-I and IGFBP-3 in the circulation. This condition is characterized by mild growth impairment, variable presence of pubertal delay in boys, and insulin insensitivity due to markedly reduced concentrations of free and total serum IGF-I and IGFBP-3.;

NCI Metathesaurus CUI : CL493270;

Details

Origin ID

C120114;

UMLS CUI

C3900122;

Automatic exact mappings (from CISMeF team)
- Acid-labile subunit deficiency [OMIM Phenotype]
- Reduced insulin like growth factor binding protein acid labile subunit concentration [HPO term]
Semantic type(s)
- Laboratory or Test Result [UMLS semantic type]
UMLS correspondences (same concept)
- Acid-labile subunit deficiency [OMIM Phenotype]
- Reduced insulin like growth factor binding protein acid labile subunit concentration [HPO term]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- IGFALS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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