loading...| Preferred Name | MENKES DISEASE | |
| Synonyms |
STEELY HAIR DISEASE COPPER TRANSPORT DISEASE MK KINKY HAIR DISEASE MNK MENKES SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/309400 |
|
| altLabel |
STEELY HAIR DISEASE COPPER TRANSPORT DISEASE MK KINKY HAIR DISEASE MNK MENKES SYNDROME |
|
| cui |
C0022716 |
|
| Gene Locus |
Xq12-q13 |
|
| Gene Symbol |
MK OHS HMNX ATP7A MNK |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU007306 http://purl.bioontology.org/ontology/OMIM/MTHU007305 http://purl.bioontology.org/ontology/OMIM/MTHU007307 http://purl.bioontology.org/ontology/OMIM/MTHU032998 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU007303 http://purl.bioontology.org/ontology/OMIM/MTHU007302 http://purl.bioontology.org/ontology/OMIM/MTHU007304 http://purl.bioontology.org/ontology/OMIM/MTHU001148 http://purl.bioontology.org/ontology/OMIM/MTHU000088 http://purl.bioontology.org/ontology/OMIM/MTHU000388 http://purl.bioontology.org/ontology/OMIM/MTHU011913 http://purl.bioontology.org/ontology/OMIM/MTHU007308 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU000033 http://purl.bioontology.org/ontology/OMIM/MTHU000133 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
309400 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MENKES DISEASE |
|
| Scope Statement |
Female carriers may have subtle manifestations [MISCELLANEOUS] Caused by mutation in the ATPase, Cu++ transporting, alpha polypeptide gene (ATP7A, 300011.0001) [MOLECULAR BASIS] A milder form has also been reported [MISCELLANEOUS] Classic severe form shows onset at 2 to 3 months of age [MISCELLANEOUS] Incidence ranges from 1 in 40,000 to 1 in 350,000 births [MISCELLANEOUS] Early death (usually by 3 years of age) [MISCELLANEOUS] |
|
| tui |
T047 |