loading...| Preferred Name |
Menkes disease |
|
| Synonyms |
Menkes syndrome |
|
| Definitions |
A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_565 |
|
| alternative_term |
Menkes syndrome Menkes kinky hair disease MD |
|
| definition |
A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 |
|
| has_age_of_onset |
Neonatal |
|
| has_inheritance |
X-linked recessive |
|
| hasDbXref |
ICD-11:5C64.0Y ICD-10:E83.0 MeSH:D007706 MedDRA:10027294 OMIM:309400 UMLS:C0022716 |
|
| label |
Menkes disease |
|
| notation |
ORPHA:565 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_309839 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_225692 |
|
| prefixIRI |
ORDO:Orphanet_565 |
|
| prefLabel |
Menkes disease |
|
| present_in |
Europe AND has_birth_prevalence_average_value : 0.33 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 0.28 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_309839 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_225692 |
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| subClassOf |