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Giant cell arteritis
1 OMIM reference -
1 associated gene
41 connected diseases
57 signs/symptoms
Disease Type of connection
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Granulomatosis with polyangiitis
Pediatric systemic lupus erythematosus
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Severe combined immunodeficiency due to LCK deficiency
Combined immunodeficiency due to ZAP70 deficiency
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Behavioral variant of frontotemporal dementia
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Common variable immunodeficiency
Familial medullary thyroid carcinoma
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Idiopathic hypereosinophilic syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Infantile myofibromatosis
Laron syndrome
Myeloid neoplasm associated with PDGFRB rearrangement
Papillary or follicular thyroid carcinoma
Progressive non-fluent aphasia
Semantic dementia
Short stature due to partial GHR deficiency
Spastic paraplegia - Paget disease of bone
Unclassified chronic myeloproliferative disease
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Hereditary spherocytosis
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Synonym(s):
- Horton disease
- Temporal arteritis
Classification (Orphanet):
- Rare circulatory system disease
- Rare renal disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
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: D013700
Gene symbol UniProt reference OMIM reference
PTPN22 Q9Y2R2600716
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