loading...| Preferred Name |
Menkes Kinky Hair Syndrome |
|
| Synonyms |
X Linked Copper Deficiency |
|
| Definitions |
An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D007706 |
|
| altLabel |
X Linked Copper Deficiency Hair Diseases, Kinky Transport Disease, Copper Diseases, Menkes' Menkea Syndrome Menkes Syndrome Menkes' Diseases Syndrome, Steely Hair Menkes' Disease Steely Hair Disease Diseases, Kinky Hair Copper Deficiencies, X-Linked Syndromes, Menkea Syndromes, Steely Hair Diseases, Steely Hair Copper Transport Diseases Hypocupremia, Congenital Kinky Hair Disease Congenital Hypocupremias Disease, Steely Hair Steely Hair Syndrome Kinky Hair Syndrome Deficiency, X-Linked Copper Copper Transport Disease Menkes Disease Transport Diseases, Copper X-Linked Copper Deficiency Deficiencies, X-Linked Copper Hair Diseases, Steely Diseases, Copper Transport X-Linked Copper Deficiencies Copper Deficiency, X-Linked Disease, Copper Transport Hypocupremias, Congenital Steely Hair Syndromes Menkea Syndromes Steely Hair Diseases Congenital Hypocupremia Kinky Hair Diseases Syndrome, Menkea |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0022716 |
|
| DC |
1 |
|
| definition |
An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125) |
|
| DX |
19910101 |
|
| FX |
D002570 D013482 D008249 D000073840 |
|
| HN |
2000(1977) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D000073840 http://purl.bioontology.org/ontology/MESH/D002570 |
|
| Machine permutation |
2000; see KINKY HAIR SYNDROME 1991-1999; see BRAIN DISEASES, METABOLIC 1977-1990 |
|
| Mapped from | ||
| MDA |
19760505 |
|
| MMR |
20190711 |
|
| MN |
C17.800.329.968 C10.228.140.163.100.540 C18.452.648.618.590 C18.452.648.189.540 C16.320.400.525.687 C18.452.132.100.540 C16.320.322.500.687 C16.320.565.189.540 C10.597.606.360.455.687 C16.320.565.618.590 |
|
| notation |
D007706 |
|
| prefLabel |
Menkes Kinky Hair Syndrome |
|
| TERMUI |
T023133 T811681 T841995 T364748 T369449 T023132 T841996 T023134 T369451 T369450 T369454 T369453 T369452 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1977) UNK (19XX) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D008664 http://purl.bioontology.org/ontology/MESH/D038901 |