loading...| Preferred Name |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B |
| Synonyms |
HMSN I |
| ID |
http://purl.bioontology.org/ontology/OMIM/118200 |
| altLabel |
HMSN I CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B HMSN1 CMT1B CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY HMSN1B HEREDITARY MOTOR AND SENSORY NEUROPATHY IB PERONEAL MUSCULAR ATROPHY HMSN IB HEREDITARY MOTOR AND SENSORY NEUROPATHY I |
| cui |
C0007959 C0270912 C0751036 |
| Gene Locus |
1q22 |
| Gene Symbol |
CMTDID MPZ CMT1B CHN2 DSS |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018996 http://purl.bioontology.org/ontology/OMIM/MTHU002724 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU002851 http://purl.bioontology.org/ontology/OMIM/MTHU065123 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU000336 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU000903 http://purl.bioontology.org/ontology/OMIM/MTHU059089 http://purl.bioontology.org/ontology/OMIM/MTHU018997 http://purl.bioontology.org/ontology/OMIM/MTHU006146 http://purl.bioontology.org/ontology/OMIM/MTHU067051 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU013936 http://purl.bioontology.org/ontology/OMIM/MTHU001004 http://purl.bioontology.org/ontology/OMIM/MTHU000335 |
| 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 |
Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Insidious onset [MISCELLANEOUS] Upper limb involvement usually occurs later [MISCELLANEOUS] Slowly progressive [MISCELLANEOUS] Onset in first or second decade [MISCELLANEOUS] Caused by mutation in the myelin protein zero gene (MPZ, 159440.0001) [MOLECULAR BASIS] Allelic disorders with overlapping phenotypes include Dejerine-Sottas syndrome (DSS, 145900), congenital hypomyelination (CHN, 605253), and some forms of axonal CMT2 (see 607677) [MISCELLANEOUS] |
| tui |
T047 |