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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

X-linked centronuclear myopathy

1 OMIM reference -
2 associated genes
16 signs/symptoms

Desminopathy

X-linked centronuclear myopathy

DES	(UniProt - OMIM)		MAMLD1	(UniProt - OMIM)
			MTM1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DES	(0.79)	MTM1

Citations in the biomedical literature:

Desminopathy		X-linked centronuclear myopathy
	Synonym(s): - Desmin-related myofibrillar myopathy		Synonym(s): - Myotubular myopathy - XLCNM - XLMTM

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538647

X-linked centronuclear myopathy
	Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Areflexia / hyporeflexia - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cavernous / tuberous hemangioma - Expressionless face / amimia - Hypotonia - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Stillbirth / neonatal death - X-linked recessive inheritance
Desminopathy
(no data available)