MD
MCID: MNK001
MIFTS: 81

Menkes Disease (MD) malady

Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases categories

Summaries for Menkes Disease

About this section
Sources:
42NIH Rare Diseases, 3CDC, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.

MalaCards: Menkes Disease, also known as copper transport disease, is related to wilson disease and occipital horn syndrome, and has symptoms including varices/varicous veins/venous insufficiency, bladder/vesical diverticulum and gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia. An important gene associated with Menkes Disease is ATP7A (ATPase, Cu++ transporting, alpha polypeptide), and among its related pathways are Mineral absorption and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. The compounds beta-aminopropionitrile and tetrathiomolybdate have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and skin, and related mouse phenotypes are liver/biliary system and cardiovascular system.

NIH Rare Diseases:42 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. last updated: 3/8/2011

CDC:3 Muscular dystrophies are a group of disorders that result in muscle weakness and a decrease in muscle mass over time. Some muscular dystrophies are not identified until a child is 3 to 6 years of age, but can be diagnosed earlier. To help a child with muscular dystrophy reach his or her full potential, it is very important to get help as early as possible. Acting early can make a real difference!

NINDS:43 Menkes disease is caused by a defective gene named ATPTA that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks. Then symptoms begin, including floppy muscle tone, seizures, and failure to thrive.

Wikipedia:63 Menkes disease (MNK), also called Menkes syndrome, copper transport disease, steely hair disease, kinky... more...

Description from OMIM:46 309400

Aliases & Classifications for Menkes Disease

About this section
Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 20GeneTests, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
menkes disease:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

menkes disease 8 9 63 42 21 43 46 10 44 48
copper transport disease 8 63 42 21
steely hair syndrome 8 63 21 48
menkes syndrome 42 20 21 48
menkea syndrome 63 42 21
mnk 63 21 48
mk 63 21 48
menkes kinky-hair syndrome 8 22
x-linked copper deficiency 21 48
hypocupremia, congenital 63 21
steely hair disease 42 48
kinky hair syndrome 21 48
kinky hair disease 42 48
menkes kinky hair syndrome 60
trichopoliodystrophy 48
md 48


External Ids:

Disease Ontology8 DOID:1838
NCIt39 C75486
MeSH34 D007706
SNOMED-CT56 59178007
OMIM46 309400
ICD10 via Orphanet26 E83.0
SNOMED-CT via Orphanet57 59178007

Related Diseases for Menkes Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Menkes Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 220)
idRelated DiseaseScoreTop Affiliating Genes
1wilson disease30.7CP, DNAH8, ATP7B, ATOX1, ATP7A, SOD1
2occipital horn syndrome30.2DBH, ATP7A, LOX
3connective tissue disease30.2LOX, ATP7A, ELN
4swayback30.0CP
5cutis laxa30.0LOX, ELN
6hepatitis30.0CP, DBH
7vascular disease30.0ELN, DNAH8, SOD1, LOX
8prostate cancer29.9PAM, PGK1, MT2A, LOX
9colorectal cancer29.9CP, PGK1, COX5A, LOX
10deficiency anemia29.9COX5A, ATP7A, DBH, PGK1, CP
11neuropathy29.7DNAH8
12amyotrophic lateral sclerosis29.7LOX, CCS, SOD1
13muscular dystrophy10.5
14x-linked disease10.4
15myeloid leukemia10.4
16acute myeloid leukemia10.4
17brain disease10.4
18chromosomal disease10.4
19hair disease10.4
20cytochrome-c oxidase deficiency disease10.3
21acquired kinky hair syndrome10.3
22skin disease10.3
23microcytic anemia10.3
24myelodysplastic syndromes10.3
25bladder disease10.2
26hiatus hernia10.2
27juvenile myelomonocytic leukemia10.2
28aplastic anemia10.2
29childhood leukemia10.2
30bartter disease10.2
31thalamic disease10.2
32bladder diverticulum10.2
33eye disease10.2
34placenta disease10.2
35spinal cord disease10.2
36meckel syndrome10.2
37choroiditis10.1
38aneurysm disease10.1
39choroid disease10.1
40kidney disease10.1
41liver disease10.1
42neurologic diseases10.1
43pili torti10.1
44leukemia10.1
45mckusick-kaufman syndrome10.1
46wolff-parkinson-white syndrome10.1
47clubfoot10.1
48multiple myeloma10.1
49myelofibrosis10.1
50myeloma10.1

Graphical network of the top 20 diseases related to Menkes Disease:



Diseases related to menkes disease

Clinical Features for Menkes Disease

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

309400

Clinical synopsis from OMIM:

309400

Symptoms:

48 (show all 57)
  • varices/varicous veins/venous insufficiency
  • bladder/vesical diverticulum
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • tarsal anomaly/fusion/synostosis
  • metaphyseal anomaly
  • exostoses
  • muscle weakness/flaccidity
  • psychic/behavioural troubles
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hypoglycemia
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • dry/squaly skin/exfoliation
  • intrauterine growth retardation
  • sepsis severe/septicemia
  • hypothermia
  • hematomas
  • periarticular tissue anomaly/extraarticular calcifications
  • bowed diaphysis/diaphyses/long bones
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • mutiple fractures/bone fragility
  • arterial stenosis/occlusion
  • carotid artery anomalies
  • hepatitis/icterus/cholestasis
  • hypotonia
  • motor deficit/trouble
  • arterial aneurism (excluding aorta)
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • woolly/frizzy hair
  • decreased hair pigmentation/hypopigmentation of hair
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • hyperelastic skin/cutaneous hyperlaxity
  • umbilical hernia
  • inguinal/inguinoscrotal/crural hernia
  • herniae
  • absent/hypotonic/flaccid abdominal wall muscles
  • pectus excavatum
  • high vaulted/narrow palate
  • broad cheeks/cherub-like/cherubin face
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • malabsorption/chronic diarrhea/steatorrhea
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • thick skin/pachydermia/orange skin
  • abnormal scarring/cheloids/hypertrophic scars
  • narrow rib cage/thorax
  • enlargment of jaw/large jaw
  • micrognathia/retrognathia/micrognathism/retrognathism
  • expressionless face/amimia
  • wormian bones
  • prominent occiput/occipital bossing
  • asthenia/fatigue/weakness
  • x-linked recessive inheritance
  • intracranial/cerebral/meningeal hemorrhage
  • hyperextensible joints/articular hyperlaxity
  • psychic/psychomotor regression/dementia/intellectual decline
  • microcephaly

Drugs & Therapeutics for Menkes Disease

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Menkes Disease

Drug clinical trials:

Search ClinicalTrials for Menkes Disease

Search NIH Clinical Center for Menkes Disease

Search CenterWatch for Menkes Disease

Genetic Tests for Menkes Disease

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Menkes Disease:

id Genetic test Affiliating Genes
1 Menkes Disease20 ATP7A
2 Menkes Kinky-Hair Syndrome22

Anatomical Context for Menkes Disease

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Menkes Disease:

32
Brain, Liver, Skin, Kidney, Bone, Eye, Cortex, Temporal lobe, Cerebellum, Placenta, Thalamus, Spinal cord, Heart

Animal Models for Menkes Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Menkes Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.2MT2A, ATOX1
2MP:00053859.1LOX, SOD1, ATP7A, ATOX1, MT2A, DBH
3MP:00053768.7ELN, LOX, COX17, CCS, SOD1, MFI2

Publications for Menkes Disease

About this section
Sources:
50PubMed
See all sources

Articles related to Menkes Disease:

(show top 50)    (show all 387)
idTitleAuthorsYear
1
Menkes kinky hair disease. (23112368)
2012
2
Copper-trafficking efficacy of copper-pyruvaldehyde bis(N4- methylthiosemicarbazone) on the macular mouse, an animal model of Menkes disease. (22728746)
2012
3
Two cases of Menkes disease: airway management and dental fragility. (19400513)
2009
4
Menkes disease as a differential diagnosis of child abuse. (19623454)
2009
5
Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease. (16338116)
2006
6
Menkes kinky hair disease (Menkes syndrome). A case report. (17053847)
2006
7
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. (16098018)
2005
8
Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease. (16278898)
2005
9
A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis. (15902550)
2005
10
Biochemical indicator for evaluation of connective tissue abnormalities in Menkes' disease. (12838205)
2003
11
A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase. (12676902)
2003
12
Menkes disease: report of two cases. (12119818)
2002
13
Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. (12539963)
2002
14
Is kinky-hair disease a misnomer for Menkes syndrome? (11176670)
2001
15
Menkes disease: study of the mitochondrial respiratory chain in three cases. (10476365)
1999
16
Identification of a di-leucine motif within the C terminus domain of the Menkes disease protein that mediates endocytosis from the plasma membrane. (10318764)
1999
17
Clinical expression of Menkes disease in a girl with X;13 translocation. (10588844)
1999
18
Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease. (9686356)
1998
19
Fibroblast silver loading for the diagnosis of Menkes disease. (9783711)
1998
20
Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. (9380433)
1997
21
A phosphoglycerate mutase brain isoform (PGAM 1) pseudogene is localized within the human Menkes disease gene (ATP7 A). (9370262)
1997
22
Copper-metallothionein in the kidney of macular mice: a model for Menkes disease. (9358851)
1997
23
Caenorhabditis elegans cDNA for a Menkes/Wilson disease gene homologue and its function in a yeast CCC2 gene deletion mutant. (9354393)
1997
24
Expression of Menkes disease gene in mammary carcinoma cells. (9359859)
1997
25
Menkes' Kinky Hair disease: new considerations. (9141833)
1996
26
Menkes kinky hair disease. (8028455)
1994
27
Wilson disease and Menkes disease: new handles on heavy-metal transport. (8091505)
1994
28
Menkes disease. (7992686)
1994
29
Copper distribution in fetus and placenta of the macular mutant mouse as a model of Menkes kinky hair disease. (7873696)
1994
30
The mottled gene is the mouse homologue of the Menkes disease gene. (8054976)
1994
31
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. (8490659)
1993
32
Menkes' kinky hair disease: morphological and immunohistochemical comparison of two autopsied patients. (2028748)
1991
33
Genetic expression of Menkes disease in cultured astrocytes of the macular mouse. (1779648)
1991
34
The relationship of excess copper accumulation by fibroblasts from the brindled mouse model of Menkes disease to the primary defect. (2334401)
1990
35
Vitamin C treatment in Menkes' disease: failure to affect biochemical and clinical parameters. (2512452)
1989
36
Copper histidinate therapy in Menkes' disease: prevention of progressive neurodegeneration. (2512453)
1989
37
First-trimester diagnosis of Menkes disease: intermediate copper values in chorionic villi from three affected male fetuses. (2710742)
1989
38
Abnormal copper metabolism and regulation of metallothionein gene expression in Menkes' disease. (2959538)
1987
39
Menkes steely hair disease. (3721573)
1986
40
Thalamic lesions in a patient with Menkes kinky-hair disease. (4064386)
1985
41
Menkes' disease: abnormal metallothionein gene regulation in response to copper. (3967294)
1985
42
Studies of lipids, lipoproteins, and apolipoproteins in Menkes' disease. (6483510)
1984
43
Chromosomal location of human metallothionein genes: implications for Menkes' disease. (6719135)
1984
44
Menkes' X-linked disease: prenatal diagnosis and carrier detection. (6413776)
1983
45
Degradation of 35S-labeled metallothionein in the liver and the kidney of brindled mice: model for Menkes' disease. (7196482)
1981
46
Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures. (7205900)
1980
47
Polyamine metabolism in Menkes kinky hair disease. (6772349)
1980
48
Pili torti as marker for carriers of Menkes disease. (76144)
1978
49
Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease. (1176140)
1975
50
Menkes' disease--a hypothesis with recommandations for future investigations. (4446939)
1974

Genetic Variations for Menkes Disease

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Menkes Disease:

62 (show all 33)
id Symbol AA change Variation ID SNP ID
1ATP7Ap.Ala629ProVAR_000699
2ATP7Ap.Gly727ArgVAR_000700
3ATP7Ap.Leu1006ProVAR_000701
4ATP7Ap.Gly1019AspVAR_000702
5ATP7Ap.Leu873ArgVAR_010001
6ATP7Ap.Gly876GluVAR_010002
7ATP7Ap.Cys1000ArgVAR_010003
8ATP7Ap.Gly1300GluVAR_010004
9ATP7Ap.Gly1302ArgVAR_010005
10ATP7Ap.Gly1302ValVAR_010006
11ATP7Ap.Asp1305AlaVAR_010007
12ATP7Ap.Ala1362ValVAR_010008
13ATP7Ap.Leu706ArgVAR_023261
14ATP7Ap.Arg844HisVAR_023262
15ATP7Ap.Gly853ArgVAR_023263
16ATP7Ap.Gly860ValVAR_023264
17ATP7Ap.Gly876ArgVAR_023265
18ATP7Ap.Gln924ArgVAR_023266
19ATP7Ap.Ala1007ValVAR_023267
20ATP7Ap.Gly1015AspVAR_023268
21ATP7Ap.Asp1044GlyVAR_023269
22ATP7Ap.Leu1100ProVAR_023270
23ATP7Ap.Gly1118AspVAR_023271
24ATP7Ap.Gly1255ArgVAR_023272
25ATP7Ap.Lys1282GluVAR_023273
26ATP7Ap.Asn1304LysVAR_023274
27ATP7Ap.Gly1315ArgVAR_023275
28ATP7Ap.Ala1325ValVAR_023276
29ATP7Ap.Ser1344ArgVAR_023277
30ATP7Ap.Ile1345PheVAR_023278
31ATP7Ap.Gly1369ArgVAR_023279
32ATP7Ap.Ser1397PheVAR_023280
33ATP7Ap.Thr1048IleVAR_068831

Expression for genes affiliated with Menkes Disease

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Menkes Disease

Search GEO for disease gene expression data for Menkes Disease.

Pathways for genes affiliated with Menkes Disease

About this section
Sources:
29KEGG, 49PharmGKB
See all sources

Pathways related to Menkes Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1MT2A, ATOX1, ATP7A
210.0MT2A, ATP7B, ATP7A, SOD1

Compounds for genes affiliated with Menkes Disease

About this section
Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
See all sources

Compounds related to Menkes Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 67)
idCompoundScoreTop Affiliating Genes
1beta-aminopropionitrile4410.6ELN, LOX
2tetrathiomolybdate4410.6CP, ATP7B
3randox4410.6SOD1, CP
4alpha-aminoadipic semialdehyde4410.6LOX, ELN
5dmpo-oh4410.6CP, SOD1
6desmosine4410.6ELN, LOX
7plastocyanin4410.5CP, ATOX1
8peptidylglycine4410.5DBH, PAM, CP
9d penicillamine4410.5CP, ELN, LOX
10dexamethasone44 49 28 1113.5PAM, LOX, DBH
11copper(i)4410.5ATP7A, ATOX1, ATP7B
12acyl phosphate4410.5DNAH8, ATP7B, ATP7A
13copper histidine4410.5COX5A, ATP7A, CP
14bioflavonoids4410.5DNAH8, SOD1
15proadifen4410.5LOX, COX5A
16zinc superoxide4410.5SOD1, CCS
17hemocyanin4410.5DBH, PAM, ATOX1
18deferoxamine44 1111.5CP, MFI2, SOD1
19diethyl dithiocarbamate4410.5DBH, SOD1, COX5A
20hypoxanthine44 11 2412.4SOD1, CP, PGK1
21oxaliplatin44 49 1112.4ATP7B, ATP7A, SOD1
22ndga4410.4LOX, SOD1, COX5A
23amine4410.4ELN, LOX, DBH, PAM
24hydroxylysine4410.4ELN, LOX
25sodium azide4410.3CP, DNAH8, COX5A, SOD1
26aa8614410.3COX5A, LOX
27betacarotene4410.3ELN, CP, SOD1
28dmpo4410.3SOD1, CP
29hippuric acid44 2411.2PAM, DBH
30salicylic acid44 2811.2LOX, COX5A, DNAH8
31n acetylcysteine4410.2ELN, MT2A, SOD1, COX5A, LOX
32sodium nitroprusside4410.2CP, COX5A, ELN, SOD1, DNAH8
33lysine4410.2ELN, DBH, ATOX1, LOX, PGK1
34cisplatin44 49 59 1113.2ATP7B, ATP7A, SOD1, LOX, MT2A
35aspartate4410.1ATP7A, CP, DNAH8, ELN, ATP7B
36indomethacin44 59 28 1113.1COX5A, SOD1, ELN, CP, DNAH8, LOX
37carboplatin44 49 1112.0ATP7B, SOD1, ATP7A
38lactate4410.0ELN, LOX, SOD1, DBH, PGK1, CP
39theophylline44 28 11 2413.0ELN, DNAH8, COX5A
40creatinine4410.0DNAH8, SOD1, COX5A, CP, ELN
41iron44 2411.0CP, DBH, ATOX1, SOD1, COX5A, ATP7B
42ascorbic acid44 2410.9ELN, COX5A, LOX, SOD1, DBH, PGK1
43glutamate449.9DNAH8, DBH, CP, ELN, SOD1, COX5A
44h2o2449.9LOX, DBH, ELN, CP, PGK1, COX5A
45oxygen44 2410.8PAM, CCS, ATOX1, MT2A, DBH, MFI2
46zinc44 2410.7ATP7A, ATP7B, MFI2, SOD1, CCS, MT2A
47histidine449.7LOX, ATOX1, DBH, PAM
48cysteine449.4CCS, ELN, CP, LOX, ATP7B, DBH
49superoxide44 2410.3LOX, ATP7A, CP, PGK1, DBH, MT2A
50copper44 2410.2PAM, ELN, CP, LOX, COX5A, COX17

GO Terms for genes affiliated with Menkes Disease

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Menkes Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1trans-Golgi networkGO:00580210.1PAM, ATP7B, ATP7A
2extracellular regionGO:0055769.3ELN, LOX, SOD1, MFI2, DBH, PAM

Biological processes related to Menkes Disease according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1copper ion importGO:01567710.4ATP7A, ATP7B
2intracellular copper ion transportGO:01568010.4CCS, ATP7B
3norepinephrine biosynthetic processGO:04242110.4ATP7A, DBH
4response to copper ionGO:04668810.3SOD1, ATP7B, PAM
5removal of superoxide radicalsGO:01943010.3ATP7A, SOD1, CCS
6elastic fiber assemblyGO:04825110.3ATP7A, LOX
7blood vessel remodelingGO:00197410.3ELN, DBH, ATP7A
8positive regulation of oxidoreductase activityGO:05135310.2CCS, ATP7A
9cellular copper ion homeostasisGO:00687810.2ATP7A, ATOX1, ATP7B, MT2A
10superoxide metabolic processGO:00680110.2SOD1, CCS
11copper ion transportGO:00682510.1CP, ATP7B, ATOX1, ATP7A, COX17
12cellular iron ion homeostasisGO:00687910.0CP, MFI2, SOD1
13locomotory behaviorGO:0076269.8DBH, ATP7A, SOD1

Molecular functions related to Menkes Disease according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1superoxide dismutase copper chaperone activityGO:01653210.3CCS, ATP7A
2copper-exporting ATPase activityGO:00400810.3ATP7A, ATP7B
3copper ion transmembrane transporter activityGO:00537510.2ATP7A, CCS
4copper chaperone activityGO:01653110.2COX17, ATOX1
5copper-dependent protein bindingGO:03276710.1ATOX1, ATP7A
6superoxide dismutase activityGO:0047849.9SOD1, CCS
7copper ion bindingGO:0055079.3CP, LOX, COX17, CCS, SOD1, ATP7A

Products for genes affiliated with Menkes Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Menkes Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet