CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

CMT1E

http://purl.bioontology.org/ontology/OMIM/118300

CMT1E

CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E

C3495591

17p11.2

CMT1E

CIDP

PMP22

CMT1A

DSS

http://purl.bioontology.org/ontology/OMIM/MTHU002724

http://purl.bioontology.org/ontology/OMIM/MTHU000902

http://purl.bioontology.org/ontology/OMIM/MTHU018992

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU001005

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU036554

http://purl.bioontology.org/ontology/OMIM/MTHU000326

http://purl.bioontology.org/ontology/OMIM/MTHU001017

http://purl.bioontology.org/ontology/OMIM/MTHU004251

http://purl.bioontology.org/ontology/OMIM/MTHU004700

http://purl.bioontology.org/ontology/OMIM/MTHU000325

http://purl.bioontology.org/ontology/OMIM/MTHU001004

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU000329

Phenotype description, molecular basis known.

118300

3

pound

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS]

Upper limb involvement usually occurs later [MISCELLANEOUS]

Childhood onset [MISCELLANEOUS]

Caused by mutation in the peripheral myelin protein-22 gene (PMP22, 601097.0010) [MOLECULAR BASIS]

Allelic disorders with overlapping phenotypes include CMT1A (118220), hereditary neuropathy with liability to pressure palsies (HNPP, 162500), and Dejerine-Sottas syndrome (DSS, 145900) [MISCELLANEOUS]

T047