MD
MCID: MNK001
MIFTS: 81

Menkes Disease (MD) malady

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

Summaries for Menkes Disease

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42NIH Rare Diseases, 3CDC, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 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

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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

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Sources:
17GeneCards, 18GeneDecks
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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

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Sources:
46OMIM, 48Orphanet
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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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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32MalaCards
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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

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36MGI
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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

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Sources:
50PubMed
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Articles related to Menkes Disease:

(show top 50)    (show all 387)
idTitleAuthorsYear
1
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. (23281160)
2013
2
Transcriptional remodelling in response to changing copper levels in the Wilson and Menkes disease model of Saccharomyces cerevisiae. (24056782)
2013
3
Bilateral ultrasound transversus abdominis plane block in a patient affected from Menkes disease. (22803001)
2012
4
Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein. (23064757)
2012
5
Reversible temporal lobe edema: An early MRI finding in Menkes disease. (23248709)
2012
6
Excision of massive bladder diverticula in Menkes disease. (19713155)
2010
7
In vivo correction of a Menkes disease model using antisense oligonucleotides. (18316734)
2008
8
Altered ATP7A expression and other compensatory responses in a murine model of Menkes disease. (17588765)
2007
9
The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum. (15634671)
2005
10
A comparison of the mutation spectra of Menkes disease and Wilson disease. (14579150)
2004
11
The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway. (12812980)
2003
12
Pamidronate treatment improves bone mineral density in children with Menkes disease. (12408189)
2002
13
Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome. (12483361)
2002
14
Rapid and robust screening of the Menkes disease/occipital horn syndrome gene. (12537648)
2002
15
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. (11936860)
2001
16
Congenital skull fracture as a presentation of Menkes disease. (10855657)
2000
17
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. (10739752)
2000
18
Molecular mechanisms of copper metabolism and the role of the Menkes disease protein. (9890194)
1999
19
Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p. (10497213)
1999
20
Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease. (10476363)
1999
21
Intracellular localization of the Menkes and Wilson's disease proteins and their role in intracellular copper transport. (10453201)
1999
22
Identification of point mutations in 41 unrelated patients affected with Menkes disease. (8981948)
1997
23
Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. (9215672)
1997
24
Early neuroradiologic evidence of degeneration in Menkes' disease. (9390704)
1997
25
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion. (8812725)
1996
26
Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. (8914740)
1996
27
Menkes disease mutations and response to early copper histidine treatment. (8673098)
1996
28
A murine model of Menkes disease reveals a physiological function of metallothionein. (8640230)
1996
29
Menkes' kinky-hair disease: radiologic findings in a patient treated with copper histidinate. (7704673)
1995
30
Metallothionein expression in placental tissue in Menkes' disease. An immunohistochemical study. (7576574)
1995
31
Cerebellar superoxide dismutase expression in Menkes' kinky hair disease: an immunohistochemical investigation. (7484097)
1995
32
Ultrastructural analysis of skin and aorta from a patient with Menkes disease. (7995378)
1994
33
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. (8298641)
1993
34
The decreased immune responses in macular mouse, a model of Menkes' kinky hair disease. (8434133)
1993
35
Effect of age and sex on copper-induced toxicity in the macular mutant mouse. An animal model for Menkes' kinky-hair disease. (7509170)
1993
36
Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease. (8419622)
1993
37
Menkes' disease: perspective and update on a fatal copper disorder. (8302493)
1993
38
Menkes' disease: report of a case and determination of eumelanin and pheomelanin in hypopigmented hair. (1638075)
1992
39
Muscle cell cultures in Menkes' disease: copper accumulation in myotubes. (2166183)
1990
40
Light and electron microscopic study on cerebellar cortex of macular mutant mouse as a model of Menkes kinky hair disease. (2821841)
1987
41
Neuronal and vascular disorders of the brain and spinal cord in Menkes kinky hair disease. (3130871)
1987
42
Copper-measurement in a muscle-biopsy. A possible method for postmortem diagnosis of Menkes disease. (3698334)
1986
43
Genetic epidemiology of Menkes disease. (3744020)
1986
44
Increased cadmium resistance of skin fibroblasts from Menkes disease patients. (3706665)
1986
45
Linkage studies in Menkes' disease. The Xg blood group system and C-banding of the X chromosome. (6742777)
1984
46
Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. (6616879)
1983
47
Menkes' disease and swayback. A comparative study of two copper deficiency syndromes. (6668480)
1983
48
Trace element studies in three patients and a fetus with Menkes' disease. Effect of copper therapy. (6784098)
1981
49
Menkes' syndrome (kinky hair disease) [proceedings]. (718236)
1978
50
Menkes' kinky hair disease. (865681)
1977

Genetic Variations for Menkes Disease

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62UniProtKB/Swiss-Prot
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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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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29KEGG, 49PharmGKB
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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

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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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
3dmpo-oh4410.6SOD1, CP
4alpha-aminoadipic semialdehyde4410.6LOX, ELN
5randox4410.6CP, SOD1
6desmosine4410.6ELN, LOX
7peptidylglycine4410.5DBH, PAM, CP
8d penicillamine4410.5CP, ELN, LOX
9dexamethasone44 49 28 1113.5PAM, LOX, DBH
10plastocyanin4410.5ATOX1, CP
11copper(i)4410.5ATP7A, ATOX1, ATP7B
12acyl phosphate4410.5ATP7A, DNAH8, ATP7B
13copper histidine4410.5COX5A, ATP7A, CP
14bioflavonoids4410.5DNAH8, SOD1
15zinc superoxide4410.5SOD1, CCS
16proadifen4410.5COX5A, LOX
17hemocyanin4410.5PAM, DBH, ATOX1
18deferoxamine44 1111.5SOD1, MFI2, CP
19diethyl dithiocarbamate4410.5SOD1, DBH, COX5A
20hypoxanthine44 11 2412.4CP, PGK1, SOD1
21oxaliplatin44 49 1112.4SOD1, ATP7A, ATP7B
22ndga4410.4LOX, SOD1, COX5A
23amine4410.4ELN, LOX, DBH, PAM
24dmpo4410.4CP, SOD1
25hydroxylysine4410.4ELN, LOX
26sodium azide4410.3DNAH8, SOD1, COX5A, CP
27betacarotene4410.3CP, SOD1, ELN
28aa8614410.3LOX, COX5A
29thiobarbituric acid4410.2SOD1, CP
30salicylic acid44 2811.2COX5A, LOX, DNAH8
31n acetylcysteine4410.2LOX, ELN, MT2A, COX5A, SOD1
32sodium nitroprusside4410.2CP, COX5A, ELN, SOD1, DNAH8
33lysine4410.2DBH, ATOX1, LOX, PGK1, ELN
34cisplatin44 49 59 1113.2ATP7A, ATP7B, LOX, MT2A, SOD1
35aspartate4410.1DNAH8, ATP7A, ATP7B, CP, ELN
36indomethacin44 59 28 1113.1COX5A, SOD1, ELN, CP, DNAH8, LOX
37carboplatin44 49 1112.0ATP7A, ATP7B, SOD1
38lactate4410.0ELN, LOX, SOD1, DBH, PGK1, CP
39theophylline44 28 11 2413.0DNAH8, ELN, COX5A
40creatinine4410.0ELN, CP, DNAH8, SOD1, COX5A
41iron44 2411.0CP, DBH, ATOX1, MFI2, COX5A, ATP7B
42ascorbic acid44 2410.9ELN, COX5A, LOX, SOD1, DBH, PGK1
43glutamate449.9SOD1, ELN, DNAH8, COX5A, DBH, CP
44h2o2449.9LOX, DBH, ELN, CP, PGK1, COX5A
45oxygen44 2410.8PAM, CCS, ATOX1, MT2A, DBH, MFI2
46zinc44 2410.7ATP7A, ATP7B, MFI2, SOD1, CCS, MT2A
47histidine449.7ATOX1, DBH, LOX, 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

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16Gene Ontology
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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

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  • Antibodies
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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