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Distal myopathy with vocal cord weakness
1 OMIM reference -
1 associated gene
30 connected diseases
No signs/symptoms info
Disease Type of connection
Young adult-onset Parkinsonism
Amyotrophic lateral sclerosis
Anaplastic ependymoma
Common variable immunodeficiency
Giant cell glioblastoma
Gliosarcoma
Richieri Costa-Pereira syndrome
Ewing sarcoma
Extraskeletal Ewing sarcoma
Peripheral primitive neuroectodermal tumor
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Burkitt lymphoma
Dedifferentiated liposarcoma
Fibronectin glomerulopathy
Frontotemporal dementia with motor neuron disease
Gray platelet syndrome
Isolated adermatoglyphia
Kabuki syndrome
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Well-differentiated liposarcoma
Catecholaminergic polymorphic ventricular tachycardia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spinocerebellar ataxia type 12
Acute necrotizing encephalopathy of childhood
Berardinelli-Seip congenital lipodystrophy
Familial acute necrotizing encephalopathy
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Inflammatory myofibroblastic tumor
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MATR3 P43243164015
No signs/symptoms info available.