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Charcot-Marie-Tooth disease dominant intermediate E

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.
Uniprot Description A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy.
Disease Ontology Description A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.
Mondo Term and Equivalent IDs
MONDO:0013758:  Charcot-Marie-Tooth disease dominant intermediate E
GARD:0012011: 
Orphanet:93114: 
SCTID:722294004: 
UMLS:C3280845: 
UMLS:C4302667: