loading...| Preferred Name |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B |
|
| Synonyms |
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/118200 |
|
| altLabel |
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B CMT1B PERONEAL MUSCULAR ATROPHY HEREDITARY MOTOR AND SENSORY NEUROPATHY IB HMSN1B CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY HMSN IB HMSN I HMSN1 HEREDITARY MOTOR AND SENSORY NEUROPATHY I |
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| cui |
C0270912 C0751036 C0007959 |
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| Gene Locus |
1q22 |
|
| Gene Symbol |
DSS CMTDID CHN2 MPZ CMT1B |
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU059089 http://purl.bioontology.org/ontology/OMIM/MTHU036553 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/MTHU067051 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/MTHU018997 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
162375 |
|
| notation |
118200 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B |
|
| Scope Statement |
Slowly progressive [MISCELLANEOUS] Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Insidious onset [MISCELLANEOUS] Upper limb involvement usually occurs later [MISCELLANEOUS] Allelic disorders with overlapping phenotypes include Dejerine-Sottas syndrome (DSS, 145900), congenital hypomyelination (CHN, 605253), and some forms of axonal CMT2 (see 607677) [MISCELLANEOUS] Caused by mutation in the myelin protein zero gene (MPZ, 159440.0001) [MOLECULAR BASIS] Variable severity [MISCELLANEOUS] Onset in first or second decade [MISCELLANEOUS] |
|
| tui |
T047 |