MD
MCID: MNK001
MIFTS: 71

Menkes Disease (MD) malady

Neuronal, Eye, Skin, Metabolic categories

Summaries for Menkes Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 3CDC, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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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 microcephaly, broad cheeks/cherub-like/cherubin face and high vaulted/narrow palate. 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, cortex and cerebellum, and related mouse phenotypes are liver/biliary system and cardiovascular system.

NIH Rare Diseases:43 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 My Story - Real stories from people living with muscular dystrophy.

NINDS:44 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:64 Menkes disease (MNK), also called Menkes syndrome, copper transport disease, steely hair disease, kinky... more...

Description from OMIM:47 309400

Aliases & Classifications for Menkes Disease

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
menkes disease:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

menkes disease 8 9 64 43 21 44 47 10 45 49
copper transport disease 8 64 43 21
steely hair syndrome 8 64 21 49
menkes syndrome 43 20 21 49
menkea syndrome 64 43 21
mnk 64 21 49
mk 64 21 49
menkes kinky-hair syndrome 8 22
x-linked copper deficiency 21 49
hypocupremia, congenital 64 21
steely hair disease 43 49
kinky hair syndrome 21 49
kinky hair disease 43 49
menkes kinky hair syndrome 61
trichopoliodystrophy 49
md 49


External Ids:

Disease Ontology8 DOID:1838
NCIt40 C75486
MeSH35 D007706
SNOMED-CT57 59178007
OMIM47 309400
ICD10 via Orphanet26 E83.0

Related Diseases for Menkes Disease

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 193)
idRelated DiseaseScoreTop Affiliating Genes
1wilson disease30.9CP, DNAH8, ATP7B, ATOX1, ATP7A, SOD1
2occipital horn syndrome30.9DBH, ATP7A, LOX
3swayback30.0CP
4cutis laxa30.0LOX, ELN
5vascular disease30.0ELN, DNAH8, SOD1, LOX
6colorectal cancer29.9CP, PGK1, COX5A, LOX
7deficiency anemia29.9COX5A, ATP7A, DBH, PGK1, CP
8amyotrophic lateral sclerosis29.7LOX, CCS, SOD1
9myelodysplastic syndromes10.7
10acute myeloid leukemia10.4
11brain disease10.4
12cytochrome-c oxidase deficiency disease10.4
13acquired kinky hair syndrome10.3
14bladder disease10.3
15pili torti10.3
16juvenile myelomonocytic leukemia10.2
17t-cell leukemia10.2
18meckel syndrome10.2
19bartter disease10.2
20thalamic disease10.2
21bladder diverticulum10.2
22spinal cord disease10.2
23cerebellar degeneration10.2
24aneurysm disease10.2
25lip disease10.2
26aplastic anemia10.2
27refractory anemia10.2
28acute t cell leukemia10.1
29myelodysplastic syndrome, somatic10.1
30hematopoietic stem cell transplantation10.1
31mckusick-kaufman syndrome10.1
32wolff-parkinson-white syndrome10.1
33clubfoot10.1
34craniometaphyseal dysplasia, autosomal dominant10.1
35wilms tumor10.1
36acute myelomonocytic leukemia10.1
37chronic myelomonocytic leukemia10.1
38epidermolysa bullosa simplex with muscular dystrophy10.1
39oculocutaneous albinism10.0
40gastroesophageal reflux disease10.0
41nephrocalcinosis10.0
42basal ganglia disease10.0
43albinism10.0
44mass syndrome10.0
45shaken baby syndrome10.0
46n syndrome10.0
47walker-warburg syndrome10.0
48thrombocytosis10.0
49facioscapulohumeral muscular dystrophy10.0
50peyronie's disease10.0

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



Diseases related to menkes disease

Clinical Features for Menkes Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

309400

Clinical synopsis from OMIM:

309400

Symptoms:

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

Drugs & Therapeutics for Menkes Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Menkes Disease:

33
Brain, Cortex, Cerebellum, Spinal cord, Heart, Skeletal muscle, Kidney, Liver, Skin, Placenta, T cells, Temporal lobe, Occipital lobe, Thalamus

Animal Models for Menkes Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Menkes Disease:

37
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

Sources:
51PubMed
See all sources

Articles related to Menkes Disease:

(show top 50)    (show all 388)
idTitleAuthorsYear
1
EPR Spectroscopy of a Clinically Active (1:2) Copper(II)-Histidine Complex Used in the Treatment of Menkes Disease: A Fourier Transform Analysis of a Fluid CW-EPR Spectrum. (24434671)
2014
2
Lactate and Pyruvate Levels in Blood and Cerebrospinal Fluid in Patients with Menkes Disease. (24388330)
2013
3
Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy. (24054147)
2013
4
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. (21667063)
2012
5
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. (22992316)
2012
6
Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease. (22089129)
2012
7
Alterations in the expression of the Atp7a gene in the early postnatal development of the mosaic mutant mice (Atp7a mo-ms) - An animal model for Menkes disease. (20831904)
2011
8
Clinical utility gene card for: Menkes disease. (21487442)
2011
9
Menkes disease with gastroesophageal reflux disease and successful surgical treatment: a case report and literature review. (20718197)
2010
10
Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease. (19092723)
2009
11
Solution structures of the actuator domain of ATP7A and ATP7B, the Menkes and Wilson disease proteins. (19645496)
2009
12
Anesthesia for a child with Menkes disease. (18673308)
2008
13
Diffusion-weighted MR imaging of unusual white matter lesion in a patient with Menkes disease. (17277569)
2007
14
Menkes' disease: case report. (17420847)
2007
15
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. (17717039)
2007
16
Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy? (16630173)
2006
17
Solution structure and intermolecular interactions of the third metal-binding domain of ATP7A, the Menkes disease protein. (16873374)
2006
18
Correction of a mouse model of Menkes disease by the human Menkes gene. (16488577)
2006
19
X-linked recessive Menkes disease: identification of partial gene deletions in affected males. (12485192)
2002
20
Neurodegeneration in the animal model of Menkes' disease involves Bcl-2-linked apoptosis. (11311799)
2001
21
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. (11431706)
2001
22
Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. (10401004)
1999
23
Investigation of the copper binding sites in the Menkes disease protein, ATP7A. SSIEM Award. Society of the Study of Inborn Errors of Metabolism. (9686355)
1998
24
Prenatal diagnosis of Menkes disease. (9556046)
1998
25
Early copper histidine therapy in classic Menkes disease. (9005880)
1997
26
Menkes disease: recent advances and new aspects. (9138147)
1997
27
Intracranial and extracranial MR angiography in Menkes disease. (9323239)
1997
28
In vitro copper stimulation of plasma peptidylglycine alpha-amidating monooxygenase in Menkes disease variant with occipital horns. (9396570)
1997
29
Biochemical characterization and intracellular localization of the Menkes disease protein. (8943055)
1996
30
Early copper-histidine treatment for Menkes disease. (8528242)
1996
31
Copper-histidine treatment of Menkes disease. (8093166)
1994
32
A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders. (8487278)
1993
33
Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. (8434878)
1993
34
Application of a copper blotting method to the study of Menkes disease. (7691134)
1993
35
Incidence of Menkes disease. (1999344)
1991
36
Urate oxidase activity and copper content in the liver of macular mutant mouse, a model animal for human congenital copper deficiency, Menkes' kinky hair disease. (1819648)
1991
37
Menkes' disease: a disorder of zinc metabolism? (2564143)
1989
38
Atypical Menkes steely hair disease. (3189407)
1988
39
Cerebral lipid and protein abnormalities in Menkes' steely-hair disease. (3599492)
1986
40
Menkes disease: is vitamin C treatment effective? (4083390)
1985
41
Menkes' disease: are we closer to learning its cause? (6504407)
1984
42
The metallothionein-I gene maps to mouse chromosome 8: implications for human Menkes' disease. (6683708)
1983
43
Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females. (7346814)
1981
44
Menkes X linked disease: two clonal cell populations in heterozygotes. (7205901)
1980
45
Primary biochemical defect in copper metabolism in mice with a recessive X-linked mutation analogous to Menkes' disease in man. (571898)
1979
46
Cell culture studies of Menkes kinky hair disease. (699339)
1978
47
Menkes kinky-hair disease. A report on its pathology. (654875)
1978
48
Menkes' disease: is the etiology a copper transport defect? (4820597)
1974
49
Letter: Menkes' kinky hair disease treated with subcutaneous copper sulphate. (4140440)
1974
50
The ocular pathology of Menkes' disease. (Kinky hair disease). (5699324)
1968

Genetic Variations for Menkes Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Menkes Disease:

63 (show all 33)
id Symbol AA change Variation 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

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

Sources:
30KEGG, 50PharmGKB
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

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Menkes Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 67)
idCompoundScoreTop Affiliating Genes
1beta-aminopropionitrile4510.6ELN, LOX
2tetrathiomolybdate4510.6ATP7B, CP
3dmpo-oh4510.6SOD1, CP
4alpha-aminoadipic semialdehyde4510.6LOX, ELN
5randox4510.6SOD1, CP
6desmosine4510.6LOX, ELN
7plastocyanin4510.5ATOX1, CP
8peptidylglycine4510.5CP, PAM, DBH
9d penicillamine4510.5LOX, CP, ELN
10dexamethasone45 50 29 1113.5PAM, DBH, LOX
11copper(i)4510.5ATP7A, ATOX1, ATP7B
12acyl phosphate4510.5ATP7A, ATP7B, DNAH8
13copper histidine4510.5COX5A, ATP7A, CP
14bioflavonoids4510.5SOD1, DNAH8
15zinc superoxide4510.5CCS, SOD1
16proadifen4510.5LOX, COX5A
17hemocyanin4510.5ATOX1, DBH, PAM
18deferoxamine45 1111.5CP, MFI2, SOD1
19diethyl dithiocarbamate4510.5COX5A, SOD1, DBH
20hypoxanthine45 11 2412.4CP, PGK1, SOD1
21oxaliplatin45 50 1112.4ATP7B, ATP7A, SOD1
22ndga4510.4LOX, COX5A, SOD1
23amine4510.4ELN, PAM, DBH, LOX
24aa8614510.3LOX, COX5A
25dmpo4510.3SOD1, CP
26sodium azide4510.3COX5A, SOD1, DNAH8, CP
27betacarotene4510.3ELN, CP, SOD1
28hydroxylysine4510.3LOX, ELN
29thiobarbituric acid4510.2CP, SOD1
30salicylic acid45 2911.2LOX, COX5A, DNAH8
31n acetylcysteine4510.2LOX, COX5A, SOD1, MT2A, ELN
32sodium nitroprusside4510.2ELN, CP, DNAH8, SOD1, COX5A
33lysine4510.2LOX, ATOX1, DBH, PGK1, ELN
34cisplatin45 50 60 1113.2LOX, SOD1, ATP7A, ATP7B, MT2A
35aspartate4510.1ATP7A, ATP7B, DNAH8, CP, ELN
36indomethacin45 60 29 1113.1LOX, COX5A, SOD1, DNAH8, CP, ELN
37carboplatin45 50 1112.0SOD1, ATP7A, ATP7B
38lactate4510.0LOX, COX5A, SOD1, DBH, PGK1, CP
39theophylline45 29 11 2413.0ELN, DNAH8, COX5A
40creatinine4510.0COX5A, SOD1, DNAH8, CP, ELN
41iron45 2411.0COX5A, SOD1, MFI2, ATOX1, ATP7B, DBH
42ascorbic acid45 2410.9LOX, COX5A, SOD1, DBH, PGK1, PAM
43glutamate459.9COX5A, SOD1, DNAH8, DBH, CP, ELN
44h2o2459.9LOX, COX5A, SOD1, MT2A, DBH, PGK1
45oxygen45 2410.8LOX, COX5A, CCS, MFI2, ATOX1, MT2A
46zinc45 2410.7CCS, SOD1, MFI2, ATP7A, ATOX1, ATP7B
47histidine459.7PAM, DBH, ATOX1, LOX
48cysteine459.4LOX, COX5A, CCS, SOD1, ATOX1, ATP7B
49superoxide45 2410.3PGK1, DBH, MT2A, ATP7B, ATOX1, ATP7A
50copper45 2410.2ELN, LOX, CP, PAM, DBH, MT2A

GO Terms for genes affiliated with Menkes Disease

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Menkes Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet