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2 OMIM references -
2 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
4 associated genes
66 signs/symptoms
Infantile myofibromatosis
Granulomatosis with polyangiitis

NOTCH3 CTLA4
PDGFRB HLA-DPB1
PRTN3
PTPN22


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Infantile myofibromatosis
NOTCH3 PDGFRB
Granulomatosis with polyangiitis
CTLA4 HLA-DPB1 PRTN3 PTPN22



Infantile myofibromatosis
Granulomatosis with polyangiitis

Synonym(s):
(no synonyms)

Synonym(s):
- GPA
- Wegener granulomatosis

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare neurologic disease
- Rare renal disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Neoplasms -
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 dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: sporadic

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D014890


COMMON
SIGNS
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intestinal obstruction / ileus


Infantile myofibromatosis
Granulomatosis with polyangiitis

Very frequent
- Autosomal dominant inheritance
- Bone cyst
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Fibromatosis / bone fibroma
- Metaphyseal anomaly
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Anomalies of chest / thorax / trunk
- Face / facial anomalies
- Intestinal / colonic anomaly
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Periarticular tissue anomaly / extraarticular calcifications
- Skull / cranial anomalies
- Thickened / hypertrophic / fibromatous gingivae

Occasional
- Anomalies of eyes and vision
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Benign tumor of the brain / nervous system
- Early death / lethality
- Hypercalcemia
- Irregular / in bands / reticular skin hyperpigmentation
- Osteolysis / osteoclasia / bone destruction / erosions
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Renal / kidney anomalies
- Restricted joint mobility / joint stiffness / ankylosis
- Sacro-coccyx / sacrum anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis


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 / relapsing otitis
- Cranial nerves palsy
- Diabetes insipidus
- Facial pain / cephalalgia / migraine
- Gangrena / necrosis
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Interstitial / restrictive pneumopathy / restrictive respiratory syndrome
- 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