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Menkes Kinky Hair Syndrome (CUI C0022716) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0022716

NCI Thesaurus Code: C75486  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair.

GARD Definition: Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and deterioration of the nervous system. Additional signs and symptoms may be noted. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Menkes disease is caused by mutations in the ATP7A gene. It is inherited in an X-linked recessive pattern. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood. - this information is from GARD/ORDR/NCATS.

CSP Definition: X-linked recessive abnormality in copper absorption marked by severe cerebral degeneration and arterial changes resulting in death in infancy and by sparse, brittle scalp hair.

MSH 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)

Synonyms & Abbreviations: (see Synonym Details)
CONGEN HYPOCUPREMIA
Congenital hypocupraemia
Congenital Hypocupremias
Congenital Hypocupremia
Copper transport disease
Disease, Steely Hair
Diseases, Kinky Hair
Diseases, Menkes'
Diseases, Steely Hair
Hair Diseases, Kinky
Hair Diseases, Steely
HYPOCUPREMIA CONGEN
Hypocupremia, Congenital
Hypocupremias, Congenital
Kinky Hair Diseases
Kinky hair disease
KINKY HAIR DIS
kinky hair syndrome
MD
Menke's kinky hair syndrome
Menkea Syndromes
Menkea syndrome
Menkes disease
MENKES DIS
Menkes Kinky Hair Syndrome [Disease/Finding]
Menkes Kinky Hair Syndrome
Menkes kinky-hair syndrome (disorder)
Menkes Kinky-Hair Syndrome
Menkes syndrome
Menkes' Diseases
Menkes' Disease
Menkes' kinky hair syndrome
Menkes' syndrome
MK - Menkes syndrome
MK
MNK - Menkes syndrome
MNK
Steely Hair Diseases
Steely hair disease
STEELY HAIR DIS
Steely Hair Syndromes
steely hair syndrome
Syndrome, Menkea
Syndrome, Steely Hair
Syndromes, Menkea
Syndromes, Steely Hair
Trichopoliodystrophy
X-linked copper deficiency

External Source Codes: 
NCI Thesaurus Code C75486 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID PKy92 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-5365 CSP
DISEASE_IDENTIFIER_ID 33322 GARD
DISEASE_IDENTIFIER_ID 33323 GARD
DISEASE_IDENTIFIER_ID 33324 GARD
DISEASE_IDENTIFIER_ID 33325 GARD
DISEASE_IDENTIFIER_ID 33326 GARD
DISEASE_IDENTIFIER_ID 33327 GARD
DISEASE_IDENTIFIER_ID 33328 GARD
DISEASE_IDENTIFIER_ID 8607 GARD
DISEASE_IDENTIFIER_ID 8608 GARD
DISEASE_IDENTIFIER_ID 8609 GARD
DISEASE_IDENTIFIER_ID 8610 GARD
DISEASE_IDENTIFIER_ID 8611 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D002570 MSH
FX D008249 MSH
FX D013482 MSH
GENELOCUS ,X,q,1,2,-,q,1,3, OMIM
GENESYMBOL ATP7A OMIM
GENESYMBOL MK OMIM
GENESYMBOL MNK OMIM
GENESYMBOL OHS OMIM
GENESYMBOL SMAX3 OMIM
HAS_GARD_PAGE true GARD
HN 2000(1977) MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19760505 MSH
MESH_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) NDFRT
MESH_DUI D007706 NDFRT
MESH_NAME Menkes Kinky Hair Syndrome NDFRT
MESH_UI M0012055 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150623 MSH
MN C10.228.140.163.100.540 MSH
MN C10.597.606.643.455.687 MSH
MN C16.320.322.500.687 MSH
MN C16.320.400.525.687 MSH
MN C16.320.565.189.540 MSH
MN C16.320.565.618.590 MSH
MN C17.800.329.968 MSH
MN C18.452.132.100.540 MSH
MN C18.452.648.189.540 MSH
MN C18.452.648.618.590 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Menkes Disease NCI
NUI N0000001757 NDFRT
PM 2000; see KINKY HAIR SYNDROME 1991-1999; see BRAIN DISEASES, METABOLIC 1977-1990 MSH
PRIMARY_PATH 10027294$10010445$10027664$10010331$Menkes' syndrome$Congenital disorders NEC$Congenital and hereditary disorders NEC$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/1521/menkes-disease/resources/1 GARD
RXAUI 3135339 RXNORM
RXAUI 3174756 RXNORM
RXAUI 3184916 RXNORM
RXAUI 3184918 RXNORM
RXAUI 3197663 RXNORM
RXAUI 3197664 RXNORM
RXAUI 3197665 RXNORM
RXAUI 3197666 RXNORM
RXAUI 3197667 RXNORM
RXAUI 3240256 RXNORM
RXAUI 3240258 RXNORM
RXAUI 5039635 RXNORM
RXAUI 5930623 RXNORM
RXAUI 5932460 RXNORM
RXCUI 1024339 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 59178007 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E83.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E83.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E83.09 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E83.09 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PKy92 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T023132 MSH
TERMUI T023133 MSH
TERMUI T023134 MSH
TERMUI T364748 MSH
TERMUI T369449 MSH
TERMUI T369450 MSH
TERMUI T369451 MSH
TERMUI T369452 MSH
TERMUI T369453 MSH
TERMUI T369454 MSH
TERMUI T811681 MSH
TERMUI T841995 MSH
TERMUI T841996 MSH
TH GHR (2014) MSH
TH NLM (1977) MSH
TH NLM (2000) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0022716

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