KEGG DISEASE: Congenital hypomyelinating neuropathy

DISEASE: Congenital hypomyelinating neuropathy

Entry

H02357                      Disease

Name

Congenital hypomyelinating neuropathy

Description

Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy, often accompanied by arthrogryposis, that is characterized by prenatal onset, areflexia, hypotonia, hypomyelination, and slowed nerve conduction velocities. Previous reports of genetic analyses of patients have described mutations in genes known to be important in myelination.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Disorders of nerve root, plexus or peripheral nerves
   Hereditary neuropathy
    8C20  Hereditary motor and sensory neuropathy
     H02357  Congenital hypomyelinating neuropathy

Pathway

hsa04514

Cell adhesion molecules

hsa04625

C-type lectin receptor signaling pathway

Gene

(CHN1) EGR2 [HSA:1959] [KO:K12496]
(CHN2) MPZ [HSA:4359] [KO:K06770]
(CHN3) CNTNAP1 [HSA:8506] [KO:K07379]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:22522483

Authors

Funalot B, Topilko P, Arroyo MA, Sefiani A, Hedley-Whyte ET, Yoldi ME, Richard L, Touraille E, Laurichesse M, Khalifa E, Chauzeix J, Ouedraogo A, Cros D, Magdelaine C, Sturtz FG, Urtizberea JA, Charnay P, Bragado FG, Vallat JM

Title

Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.

Journal

Ann Neurol 71:719-23 (2012)
DOI:10.1002/ana.23527

Reference

PMID:12953275

Authors

Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR

Title

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.

Journal

Ann Neurol 54:398-402 (2003)
DOI:10.1002/ana.10681

Reference

PMID:27668699

Authors

Mehta P, Kuspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB

Title

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

Journal

Muscle Nerve 55:761-765 (2017)
DOI:10.1002/mus.25416

» Japanese version

All links

Disease (3)   
   OMIM (3)   
Gene (6)   
   KEGG ORTHOLOGY (3)   
   KEGG GENES (3)   
Literature (3)   
   PubMed (3)   
All databases (12)   

Download RDF

DBGET integrated database retrieval system