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Granulomatosis with polyangiitis
1 OMIM reference -
4 associated genes
66 signs/symptoms
PROTEIN INTERACTIONS: 1
Laron syndrome
1 OMIM reference -
1 associated gene
31 signs/symptoms
Granulomatosis with polyangiitis
Laron syndrome

CTLA4
(UniProt - OMIM)
 GHR
(UniProt - OMIM)
HLA-DPB1
(UniProt - OMIM)
PRTN3
(UniProt - OMIM)
PTPN22
(UniProt - OMIM)

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


Citations in the biomedical literature:


Granulomatosis with polyangiitis
CTLA4 HLA-DPB1 PRTN3 PTPN22
Laron syndrome
GHR



Granulomatosis with polyangiitis
Laron syndrome

Synonym(s):
- GPA
- Wegener granulomatosis
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
Classification (Orphanet):
- Rare neurologic disease
- Rare renal disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: sporadic
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
External references:
1 OMIM reference -
1 MeSH reference: D014890
External references:
1 OMIM reference -
1 MeSH reference: D046150
Granulomatosis with polyangiitis
Laron syndrome

Very frequent
- Anomalies of nose and olfaction
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Autoimmunity / autoimmune reaction / autoantibodies
- Enanthema / aphtosa / aphta / leukoplakia
- Epistaxis / nose bleeding
- Fever / chilling
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Hematuria / microhematuria
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Renal glomerular defect / glomerulopathy
- Repeat respiratory infections
- Transient cerebral ischemia / stroke
- Vascularitis / vasculitides / arteritis
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Acute abdominal pain / colic
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cough
- Cutaneous rash
- Follicular / erythematous / edematous papules / milium
- Hemoptysis
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Lung fibrosis
- Lung / pulmonary infiltrates
- Lung / pulmonary / alveolar hemorrhage / hematoma
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Neuritis / polyneuritis / multineuritis
- Palpebral edema / periorbital edema
- Peripheral neuropathy
- Proteinuria
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Thoracic / chest pain

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Angor pectoris / myocardial infarction
- Cardiac rhythm disorder / arrhythmia
- Chronic arterial hypertension
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic / relapsing otitis
- Cranial nerves palsy
- Diabetes insipidus
- Facial pain / cephalalgia / migraine
- Gangrena / necrosis
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Interstitial / restrictive pneumopathy / restrictive respiratory syndrome
- Intestinal obstruction / ileus
- Intestinal perforation
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Meningitis / meningeal syndrome
- Myalgia / muscular pain
- Pancreatitis
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Proptosis / exophthalmos
- Prostatic inflammation / prostatitis
- Purpura / petichiae
- Renal failure
- Retinopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensitive trouble / deficit
- Sensorineural deafness / hearing loss
- Ureteral stenosis / narrowing
- Venous thrombosis / phlebitis / thrombophlebitis
- Visual loss / blindness / amblyopia


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