loading...| Preferred Name |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A |
|
| Synonyms |
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/118220 |
|
| altLabel |
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A HEREDITARY MOTOR AND SENSORY NEUROPATHY IA CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A CMT1A HMSN1A HMSN IA |
|
| cui |
C0270911 |
|
| Gene Locus |
17p11.2 |
|
| Gene Symbol |
DSS CMT1A CIDP CMT1E PMP22 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU059089 http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU018996 http://purl.bioontology.org/ontology/OMIM/MTHU001004 http://purl.bioontology.org/ontology/OMIM/MTHU013936 http://purl.bioontology.org/ontology/OMIM/MTHU002851 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU002724 http://purl.bioontology.org/ontology/OMIM/MTHU065123 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU006146 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU067052 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
118220 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A |
|
| Scope Statement |
Allelic disorders with overlapping phenotypes include Dejerine-Sottas syndrome (DSS, 145900), hereditary neuropathy with liability to pressure palsies (HNPP, 162500), and CMT with deafness (118300) [MISCELLANEOUS] Slowly progressive [MISCELLANEOUS] Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Insidious onset [MISCELLANEOUS] Upper limb involvement usually occurs later [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Caused by mutation in the peripheral myelin protein-22 gene (PMP22, 601097.0001) [MOLECULAR BASIS] Onset in first or second decade [MISCELLANEOUS] |
|
| tui |
T047 |