Charcot-Marie-Tooth disease type 4E

Term ID

DOID:0110195

Synonyms

autosomal recessive congenital hypomyelinating or amyelinating neuropathy
Charcot-Marie-Tooth neuropathy type 4E
CMT4E
Neuropathy, congenital hypomyelinating, 1

Definition

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. (2)

References

ICD10CM:G60.0
MIM:605253
ORDO:99951

Ontology

Human Disease ( DOID:0110195 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease Charcot-Marie-Tooth disease type 4

autosomal dominant disease autosomal recessive disease Charcot-Marie-Tooth disease type 4 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models