growth hormone insensitivity syndrome
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
medical condition
genetic disorder |
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
gptkb:Laron_syndrome
|
| gptkbp:causedBy |
mutation in the growth hormone receptor gene
|
| gptkbp:diagnosedBy |
low IGF-1 levels despite high growth hormone levels
|
| gptkbp:firstDescribed |
gptkb:Zvi_Laron
1966 |
| https://www.w3.org/2000/01/rdf-schema#label |
growth hormone insensitivity syndrome
|
| gptkbp:ICD-10_code |
E34.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
262500
|
| gptkbp:prevalence |
rare
|
| gptkbp:signature |
prominent forehead
delayed puberty sparse hair small chin depressed nasal bridge |
| gptkbp:symptom |
obesity
short stature delayed bone age hypoglycemia in infancy |
| gptkbp:treatment |
recombinant IGF-1
|
| gptkbp:bfsParent |
gptkb:Laron_syndrome
|
| gptkbp:bfsLayer |
6
|