loading...| Preferred Name |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J |
| Synonyms |
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J |
| ID |
http://purl.bioontology.org/ontology/OMIM/611228 |
| altLabel |
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J CMT4J |
| cui |
C1970011 |
| Gene Locus |
6q21 |
| Gene Symbol |
YVS ALS11 BTOP KIAA0274 FIG4 SAC3 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU046287 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU021884 http://purl.bioontology.org/ontology/OMIM/MTHU035933 http://purl.bioontology.org/ontology/OMIM/MTHU046288 http://purl.bioontology.org/ontology/OMIM/MTHU001140 http://purl.bioontology.org/ontology/OMIM/MTHU046286 http://purl.bioontology.org/ontology/OMIM/MTHU001752 http://purl.bioontology.org/ontology/OMIM/MTHU001203 http://purl.bioontology.org/ontology/OMIM/MTHU035934 http://purl.bioontology.org/ontology/OMIM/MTHU000329 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
611228 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J |
| Scope Statement |
Trauma may accelerate symptoms [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Caused by mutation in the FIG4 phosphoinositide 5-phosphatase gene (FIG4, 609390.0001) [MOLECULAR BASIS] Adult onset may occur [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS] Motor impairment more significant than sensory impairment [MISCELLANEOUS] Onset usually in early childhood [MISCELLANEOUS] Some patients may become wheelchair-bound [MISCELLANEOUS] |
| tui |
T047 |