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1 OMIM reference -
1 associated gene
31 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
57 signs/symptoms
Laron syndrome
Giant cell arteritis

GHR PTPN22


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GHR
(0.68)
PTPN22



Citations in the biomedical literature:


Laron syndrome
GHR
Giant cell arteritis
PTPN22



Laron syndrome
Giant cell arteritis

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):
- Horton disease
- Temporal arteritis

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare renal disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

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: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: multigenic/multifactorial

External references:
1 OMIM reference -
1 MeSH reference: D046150
External references:
1 OMIM reference -
1 MeSH reference: D013700

Laron syndrome
Giant cell arteritis

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


Very frequent
- Anorexia
- Arterial pulse abolition
- Asthenia / fatigue / weakness
- Claudication / pain on mastication / while chewing
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Restricted joint mobility / joint stiffness / ankylosis
- Transient cerebral ischemia / stroke
- Vascularitis / vasculitides / arteritis
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Alopecia
- Arthritis / synovitis / synovial proliferation
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Acute abdominal pain / colic
- Acute ischemic syndrome
- Angor pectoris / myocardial infarction
- Aortic dissection
- Aortic root dilatation / dilation / aneurysm
- Arterial embolism / thrombosis
- Articular / joint pain / arthralgia
- Ataxia / incoordination / trouble of the equilibrium
- Cardiac rhythm disorder / arrhythmia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Conductive deafness / hearing loss
- Cough
- Diabetes insipidus
- Diplopia / double vision
- Dizziness
- Epistaxis / nose bleeding
- Gangrena / necrosis
- Glossitis
- Hearing loss / hypoacusia / deafness
- Hematuria / microhematuria
- Hepatocellular liver disease / hepatic failure
- Hyperesthesia / allodynia / hyperalgia
- Hyperhidrosis / increased sweating
- Mediastinal / hilar adenopathies
- Meningitis / meningeal syndrome
- Mesenteric / intestinal infarction
- Muscle weakness / flaccidity
- Myalgia / muscular pain
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Peripheral neuropathy
- Pharyngitis
- Platelet disorders / thrombopathies
- Ptosis
- Renal failure
- Transient amaurosis / acute visual trouble
- Visual loss / blindness / amblyopia