|
gptkbp:instanceOf
|
genetic disorder
|
|
gptkbp:affects
|
adults
children
|
|
gptkbp:alsoKnownAs
|
gptkb:growth_hormone_insensitivity_syndrome
|
|
gptkbp:category
|
rare disease
endocrine disease
|
|
gptkbp:causedBy
|
mutation in the growth hormone receptor gene (GHR)
|
|
gptkbp:firstDescribed
|
gptkb:Zvi_Laron
1966
|
|
gptkbp:hasBiomarker
|
high growth hormone levels
low insulin-like growth factor 1 (IGF-1) levels
|
|
gptkbp:hasOrphanetID
|
648
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Laron syndrome
|
|
gptkbp:ICD-10_code
|
gptkb:E34.0
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:MeSH_ID
|
D006130
|
|
gptkbp:notablePerson
|
gptkb:Sephardic_Jews
gptkb:Ecuadorian_Jews
|
|
gptkbp:OMIM
|
262500
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:riskOfCancer
|
reduced
|
|
gptkbp:riskOfDiabetes
|
reduced
|
|
gptkbp:symptom
|
dwarfism
obesity
short stature
delayed bone age
delayed puberty
high-pitched voice
hypoglycemia in infancy
small head circumference
underdeveloped nasal bridge
|
|
gptkbp:treatment
|
recombinant IGF-1 therapy
|
|
gptkbp:bfsParent
|
gptkb:Homo_floresiensis
|
|
gptkbp:bfsLayer
|
5
|