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1 OMIM reference -
1 associated gene
31 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Laron syndrome
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency

GHR TYK2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GHR
(0.73)
TYK2



Citations in the biomedical literature:


Laron syndrome
GHR
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
TYK2



Laron syndrome
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency

Synonym(s):
- Complete growth hormone insensitivity
- GH receptor deficiency
- Growth hormone receptor deficiency
- Laron-type dwarfism
- Primary GH insensitivity
- Primary GH resistance
- Primary growth hormone insensitivity
- Primary growth hormone resistance
- Short stature due to growth hormone resistance

Synonym(s):
- AR hyper-IgE syndrome due to TYK2 deficiency
- AR-HIES due to TYK2 deficiency

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D046150
External references:
1 OMIM reference -
No MeSH references

Laron syndrome

Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of the endocrine glands
- Autosomal recessive inheritance
- Complete / partial microdontia
- Delayed bone age
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Facial dysmorphism
- High forehead
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Short stature / dwarfism / nanism
- Truncal obesity

Frequent
- Elbow anomalies(excluding luxation)
- Flat supraorbital ridge
- Hypoglycemia
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Short foot / brachydactyly of toes
- Short hand / brachydactyly

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Blue sclerae
- Flattened nose
- Hairy patch
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Osteoarthritis
- Premature ageing
- Skull / cranial anomalies


Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency

(no data available)