Insulin-like growth factor I, resistance to

Preferred Label : Insulin-like growth factor I, resistance to;

Symbol : IGF1RES;

CISMeF acronym : IGF1RES;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Somatomedin, end-organ insensitivity to; Somatomedin-C, resistance to; Igf-I resistance;

Included titles and symbols : Insulin-like growth factor I, resistance to, due to increased binding protein;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the insulin-like growth factor-1 receptor gene (IGF1R, 147370.0001);

Laboratory abnormalities : Increased serum insulin-like growth factor-1 (IGF1, 147740); Increased or normal serum growth hormone (GH, 139250);

Prefixed ID : #270450;

Details

Origin ID

270450;

UMLS CUI

C1849157;

Automatic exact mappings (from CISMeF team)
- IGF1R Gene [NCIt concept]
- IGF1R wt Allele [NCIt concept]
- Insulin Growth Factor I Resistance [NCIt concept]
- Insulin-Like Growth Factor 1 Receptor [NCIt concept]
- Insulin-Like growth factor I, resistance to, due to increased binding protein [MeSH concept]
- Insulin-Like growth factor I, resistance to, due to increased binding protein [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Growth delay due to insulin-like growth factor I resistance [ORDO Disease]
- Growth delay due to insulin-like growth factor I resistance (disorder) [SNOMED CT concept]
- Insulin-Like growth factor I, resistance to [MeSH concept]
- Insulin-Like growth factor I, resistance to [MeSH Supplementary Concept]
Genes related to phenotype
- Insulin-like growth factor I receptor [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal rib cage morphology [HPO term]
- Agitation [HPO term]
- Anxiety [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Decreased body weight [HPO term]
- Deeply set eye [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Diabetes mellitus [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High pitched voice [HPO term]
- Highly arched eyebrow [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Increased serum insulin-like growth factor 1 [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Lipodystrophy [HPO term]
- Long philtrum [HPO term]
- Long, smooth philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Narrow mouth [HPO term]
- Onset in utero [HPO term]
- Patent foramen ovale [HPO term]
- Pectus excavatum [HPO term]
- Radial deviation of finger [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Retrognathia [HPO term]
- Rieger anomaly [HPO term]
- Sandal gap [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Smooth philtrum [HPO term]
- Sparse scalp hair [HPO term]
- Speech delay [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular face [HPO term]
- Truncal obesity [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Growth delay due to insulin-like growth factor I resistance [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth delay due to insulin-like growth factor I resistance [ORDO Disease]
- Growth delay due to insulin-like growth factor I resistance (disorder) [SNOMED CT concept]
- Insulin Growth Factor I Resistance [NCIt concept]
- Insulin-Like growth factor I, resistance to [MeSH Supplementary Concept]
- Insulin-Like growth factor I, resistance to [MeSH concept]

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