loading...| Preferred Name |
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS |
|
| Synonyms |
DSN |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/145900 |
|
| altLabel |
DSN CHARCOT-MARIE-TOOTH DISEASE, TYPE 3 DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME CMT3 DSS HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III HMSN3 |
|
| cui |
C0011195 |
|
| Gene Locus |
19q13.1-q13.2 |
|
| Gene Symbol |
PRX CMT4F |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU059089 http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU001004 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/MTHU017740 http://purl.bioontology.org/ontology/OMIM/MTHU010474 http://purl.bioontology.org/ontology/OMIM/MTHU006146 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU002160 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/MTHU000235 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
605260 |
|
| notation |
145900 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS |
|
| Scope Statement |
Caused by mutation in the early growth response-2 gene (EGR2, 129010.0004) [MOLECULAR BASIS] Caused by mutation in the myelin protein zero gene (MPZ, 159440.0004) [MOLECULAR BASIS] Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Clinical overlap with congenital hypomyelinating neuropathy (CHN, 605253) [MISCELLANEOUS] Upper limb involvement occur later [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Clinical overlap with demyelinating Charcot-Marie-Tooth disease type 1 (see CMT1B, 118200), but much more severe phenotype [MISCELLANEOUS] Onset in infancy or early childhood [MISCELLANEOUS] Caused by mutation in the periaxin gene (PRX, 605725.0001) [MOLECULAR BASIS] Caused by mutation in the peripheral myelin protein-22 gene (PMP22, 601097.0006) [MOLECULAR BASIS] |
|
| tui |
T047 |