Laron syndrome

Preferred Label : Laron syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Growth hormone receptor deficiency; Growth hormone insensitivity syndrome; Pituitary dwarfism II;

Description : Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to generate insulin-like growth factor I (IGF1; 147440) in response to growth hormone (GH; 139250). GH levels are normal or increased. The disorder is caused by dysfunction of the growth hormone receptor. A Laron syndrome-like phenotype associated with immunodeficiency (245590) is caused by postreceptor defect, i.e. mutation in the STAT5B gene (604260). Patients with mutations in the GHR gene that cause only partial insensitivity to growth hormone have a form of short stature (604271).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the growth hormone receptor gene (GHR, 600946.0001);

Laboratory abnormalities : Normal or increased levels of GH; Low IGF1 despite normal or increased levels of GH; Failure to generate somatomedin (or insulinlike growth factor, IGF1) in response to growth hormone;

Prefixed ID : #262500;

Details

Origin ID

262500;

UMLS CUI

C0271568;

Automatic exact mappings (from CISMeF team)
- Growth Hormone Insensitivity Syndrome [NCIt concept]
- Laron dwarfism [PASCAL descriptor]
- Pituitary Dwarfism [NCIt concept]
- Pituitary dwarfism [PASCAL descriptor]
- Short stature due to a defect in growth hormone receptor or post receptor pathway [ICD-11 More detail]
- dwarfism, pituitary [MeSH Descriptor]
- dwarfism, pituitary [MeSH concept]
Currated CISMeF NLP mapping
- Growth hormone insensitivity syndrome [ORDO Disease]
- Laron Syndrome [NCIt concept]
- Laron syndrome [MedDRA Preferred Term]
- Laron syndrome [DO Concept]
- Laron syndrome [ORDO Disease]
- Laron-type dwarfism [MedDRA LLT]
- Laron-type isolated somatotropin defect (disorder) [SNOMED CT concept]
- Short stature due to growth hormone resistance [ICD-11 More detail]
- laron syndrome [Disease (Nov.)]
- laron syndrome [MeSH Descriptor]
- laron syndrome [MeSH concept]
- laron-type isolated somatotropin defect [SNOMED Notion]
DO Cross reference
- Laron syndrome [DO Concept]
Genes related to phenotype
- Growth hormone receptor [OMIM gene]
HPO term(s)
- Abnormal joint morphology [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Delayed menarche [HPO term]
- Delayed skeletal maturation [HPO term]
- High pitched voice [HPO term]
- Limb undergrowth [HPO term]
- Severe short stature [HPO term]
- Short long bone [HPO term]
- Small face [HPO term]
ORDO concept(s)
- Laron syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth hormone insensitivity syndrome [ORDO Disease]
- Laron Syndrome [NCIt concept]
- Laron syndrome [ORDO Disease]
- Laron syndrome [MedDRA Preferred Term]
- Laron syndrome [DO Concept]
- Laron-type dwarfism [MedDRA LLT]
- Laron-type isolated somatotropin defect (disorder) [SNOMED CT concept]
- laron syndrome [MeSH Descriptor]
- laron syndrome [MeSH concept]
- laron syndrome [Disease (Nov.)]
- laron-type isolated somatotropin defect [SNOMED Notion]
Validated automatic mappings to NTBT
- Growth hormone insensitivity syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients