Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
38 signs/symptoms
Laron syndrome
Autosomal dominant hyper-IgE syndrome

GHR STAT3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GHR
(0.75)
STAT3



Citations in the biomedical literature:


Laron syndrome
GHR
Autosomal dominant hyper-IgE syndrome
STAT3



Laron syndrome
Autosomal dominant hyper-IgE syndrome

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):
- AD-HIES
- Autosomal dominant HIES
- Autosomal dominant hyperimmunoglobulin E syndrome
- Buckley syndrome
- Hyperimmunoglobulin E syndrome type 1
- Hyperimmunoglobulin E-recurrent infection syndrome
- Job syndrome

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin 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:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal recessive inheritance
- Delayed dentition / eruption of teeth / lack of eruption of teeth


Laron syndrome
Autosomal dominant hyper-IgE syndrome

Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of the endocrine glands
- Complete / partial microdontia
- Delayed bone age
- 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


Very frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Atelectasia / pulmonary collapse
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Eczema
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Pruritus / itching
- Repeat respiratory infections

Frequent
- Anomalies of teeth and dentition
- Broad nose / nasal bridge
- Chronic / relapsing otitis
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cough
- Deepset eyes / enophthalmos
- Dysplastic / thick / grooved fingernails
- Eosinophils anomalies / hypereosinophilia
- Face / facial anomalies
- Follicular / erythematous / edematous papules / milium
- Frontal bossing / prominent forehead
- Gingivitis
- Hair and scalp anomalies
- Hyperextensible joints / articular hyperlaxity
- Mutiple fractures / bone fragility
- Onyxis / paronyxis / ungual inflammation
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Scoliosis

Occasional
- Arterial aneurism (excluding aorta)
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Craniostenosis / craniosynostosis / sutural synostosis
- Fever / chilling
- Lymphoma
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment