Insulin-like growth factor I deficiency

Preferred Label : Insulin-like growth factor I deficiency;

Symbol : IGF1D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Igf1 deficiency; Growth retardation with sensorineural deafness and mental retardation;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the insulin-like growth factor-1 gene (IGF1, 147440.0001);

Laboratory abnormalities : Increased serum growth hormone; Decreased serum insulin-like growth factor-1 (IGF1);

Prefixed ID : #608747;

Details

Origin ID

608747;

UMLS CUI

C1837475;

Automatic exact mappings (from CISMeF team)
- Growth delay due to insulin-like growth factor I deficiency [ICD-11 More detail]
- Insulin Growth Factor I Deficiency [NCIt concept]
Currated CISMeF NLP mapping
- Growth delay due to insulin-like growth factor type 1 deficiency [ORDO Disease]
- Growth delay due to insulin-like growth factor type 1 deficiency (disorder) [SNOMED CT concept]
- Insulin-Like growth factor I deficiency [MeSH concept]
- Insulin-Like growth factor I deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Insulin-like growth factor I [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Decreased body weight [HPO term]
- Delayed skeletal maturation [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Onset in utero [HPO term]
- Osteopenia [HPO term]
- Ptosis [HPO term]
- Radial deviation of finger [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short attention span [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Growth delay due to insulin-like growth factor type 1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth delay due to insulin-like growth factor type 1 deficiency [ORDO Disease]
- Growth delay due to insulin-like growth factor type 1 deficiency (disorder) [SNOMED CT concept]
- Insulin Growth Factor I Deficiency [NCIt concept]
- Insulin-Like growth factor I deficiency [MeSH Supplementary Concept]
- Insulin-Like growth factor I deficiency [MeSH concept]

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