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Congenital fiber-type disproportion myopathy
2 OMIM references -
7 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
Giant cell arteritis
1 OMIM reference -
1 associated gene
57 signs/symptoms
Congenital fiber-type disproportion myopathy
Giant cell arteritis

ACTA1
(UniProt - OMIM)
 PTPN22
(UniProt - OMIM)
ITGA7
(UniProt - OMIM)
MYL2
(UniProt - OMIM)
PTPLA
(UniProt - OMIM)
SEPN1
(UniProt - OMIM)
TPM2
(UniProt - OMIM)
TPM3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTA1
(0.63)
PTPN22


Citations in the biomedical literature:


Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3
Giant cell arteritis
PTPN22



Congenital fiber-type disproportion myopathy
Giant cell arteritis

Synonym(s):
- CFTDM
Synonym(s):
- Horton disease
- Temporal arteritis
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare renal disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: multigenic/multifactorial
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D013700
Congenital fiber-type disproportion myopathy
Giant cell arteritis

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Hypotonia
- Myopathy

Frequent
- Pectus excavatum
- Repeat respiratory infections
- Scoliosis



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