MD
MCID: MNK001
MIFTS: 74

Menkes Disease (MD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases categories
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Summaries for Menkes Disease

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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 based summary: Menkes Disease, also known as copper transport disease, is related to occipital horn syndrome and wilson disease, 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 Platinum Pathway, Pharmacokinetics/Pharmacodynamics and Ion transport by P-type ATPases. The compounds acyl phosphate and copper(i) have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and kidney, and related mouse phenotypes are pigmentation and liver/biliary 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

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:65 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, 65Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 39NCIt, 57SNOMED-CT, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Menkes Disease, Aliases & Descriptions:

Name: Menkes Disease 8 9 65 42 21 43 46 10 44 48
Copper Transport Disease 8 65 42 21
Steely Hair Syndrome 8 65 21 48
Menkea Syndrome 65 42 21 62
Menkes Syndrome 42 20 21 48
Mnk 65 21 48
Mk 65 21 48
Menkes Kinky-Hair Syndrome 8 22
 
X-Linked Copper Deficiency 21 48
Hypocupremia, Congenital 65 21
Steely Hair Disease 42 48
Kinky Hair Syndrome 21 48
Kinky Hair Disease 42 48
Menkes Kinky Hair Syndrome 62
Trichopoliodystrophy 48
Md 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:1838
MeSH34 D007706
NCIt39 C75486
SNOMED-CT57 59178007
OMIM46 309400
ICD10 via Orphanet26 E83.0
UMLS via Orphanet63 C0022716

Related Diseases for Menkes Disease

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



Diseases related to menkes disease

Symptoms for Menkes Disease

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Symptoms by clinical synopsis from OMIM:

309400

Clinical features from OMIM:

309400

Symptoms:

48 (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

HPO human phenotypes related to Menkes Disease:

(show all 70)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 microcephaly hallmark (90%) HP:0000252
3 full cheeks hallmark (90%) HP:0000293
4 pectus excavatum hallmark (90%) HP:0000767
5 dry skin hallmark (90%) HP:0000958
6 hyperextensible skin hallmark (90%) HP:0000974
7 seizures hallmark (90%) HP:0001250
8 muscular hypotonia hallmark (90%) HP:0001252
9 hypertonia hallmark (90%) HP:0001276
10 joint hypermobility hallmark (90%) HP:0001382
11 umbilical hernia hallmark (90%) HP:0001537
12 intracranial hemorrhage hallmark (90%) HP:0002170
13 woolly hair hallmark (90%) HP:0002224
14 developmental regression hallmark (90%) HP:0002376
15 aneurysm hallmark (90%) HP:0002617
16 hypopigmentation of hair hallmark (90%) HP:0005599
17 feeding difficulties in infancy hallmark (90%) HP:0008872
18 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
19 abnormal hair quantity hallmark (90%) HP:0011362
20 prominent occiput typical (50%) HP:0000269
21 mask-like facies typical (50%) HP:0000298
22 micrognathia typical (50%) HP:0000347
23 behavioral abnormality typical (50%) HP:0000708
24 narrow chest typical (50%) HP:0000774
25 abnormality of the metaphyses typical (50%) HP:0000944
26 atypical scarring of skin typical (50%) HP:0000987
27 thickened skin typical (50%) HP:0001072
28 muscle weakness typical (50%) HP:0001324
29 abnormality of the liver typical (50%) HP:0001392
30 nausea and vomiting typical (50%) HP:0002017
31 malabsorption typical (50%) HP:0002024
32 wormian bones typical (50%) HP:0002645
33 venous insufficiency typical (50%) HP:0005293
34 abnormality of the carotid arteries typical (50%) HP:0005344
35 cognitive impairment typical (50%) HP:0100543
36 arterial stenosis typical (50%) HP:0100545
37 exostoses typical (50%) HP:0100777
38 bladder diverticulum occasional (7.5%) HP:0000015
39 chondrocalcinosis occasional (7.5%) HP:0000934
40 intrauterine growth retardation occasional (7.5%) HP:0001511
41 hypoglycemia occasional (7.5%) HP:0001943
42 hypothermia occasional (7.5%) HP:0002045
43 chorea occasional (7.5%) HP:0002072
44 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
45 osteomyelitis occasional (7.5%) HP:0002754
46 recurrent fractures occasional (7.5%) HP:0002757
47 reduced bone mineral density occasional (7.5%) HP:0004349
48 bowing of the long bones occasional (7.5%) HP:0006487
49 spontaneous hematomas occasional (7.5%) HP:0007420
50 tarsal synostosis occasional (7.5%) HP:0008368
51 sepsis occasional (7.5%) HP:0100806
52 brachycephaly HP:0000248
53 microcephaly HP:0000252
54 abnormality of the face HP:0000271
55 osteoporosis HP:0000939
56 cutis laxa HP:0000973
57 hypopigmentation of the skin HP:0001010
58 intellectual disability HP:0001249
59 seizures HP:0001250
60 hypertonia HP:0001276
61 joint laxity HP:0001388
62 x-linked recessive inheritance HP:0001419
63 intrauterine growth retardation HP:0001511
64 hypothermia HP:0002045
65 intracranial hemorrhage HP:0002170
66 wormian bones HP:0002645
67 metaphyseal widening HP:0003016
68 short stature HP:0004322
69 metaphyseal spurs HP:0005054
70 sparse hair HP:0008070

Drugs & Therapeutics for Menkes Disease

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Drug clinical trials:

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Search NIH Clinical Center for Menkes Disease

Genetic Tests for Menkes Disease

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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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MalaCards organs/tissues related to Menkes Disease:

32
Brain, Skin, Kidney, Liver, Bone, Eye, Temporal lobe, Cortex, Heart

Animal Models for Menkes Disease or affiliated genes

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MGI Mouse Phenotypes related to Menkes Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9ATP7B, ATP7A, CP
2MP:00053708.8CP, ATP7A, ATP7B
3MP:00107718.4LOX, DBH, ATP7A, ATP7B
4MP:00053857.8ATP7A, DBH, CP, LOX
5MP:00053867.8LOX, CP, DBH, ATP7A, ATP7B
6MP:00053767.6ATP7B, ATP7A, DBH, CP, LOX

Publications for Menkes Disease

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Articles related to Menkes Disease:

(show top 50)    (show all 319)
idTitleAuthorsYear
1
Changes in body weight and height in survivors of Menkes disease. (25150085)
2014
2
Determination of the serum metallothionein (MT)1/2 concentration in patients with Wilson's disease and Menkes disease. (25172214)
2014
3
Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease. (24449426)
2014
4
Imaging features that allow for the recognition of Menkes disease. (24863520)
2014
5
Acute posterior fossa epidural hematoma in a newborn infant with Menkes disease. (24488163)
2014
6
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease. (24100245)
2013
7
Lactate and Pyruvate Levels in Blood and Cerebrospinal Fluid in Patients with Menkes Disease. (24388330)
2013
8
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. (21667063)
2012
9
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. (22992316)
2012
10
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. (20497190)
2011
11
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain. (20799318)
2010
12
Menkes disease with gastroesophageal reflux disease and successful surgical treatment: a case report and literature review. (20718197)
2010
13
A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease. (19429807)
2009
14
Anesthesia for a child with Menkes disease. (18673308)
2008
15
In vivo correction of a Menkes disease model using antisense oligonucleotides. (18316734)
2008
16
Menkes disease mimicking non-accidental injury. (17056864)
2006
17
Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy? (16630173)
2006
18
The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic study. (15862194)
2005
19
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. (16098018)
2005
20
Menkes disease: a rare cause of bilateral inguinal hernias. (15845066)
2005
21
Gene symbol: ATP7A. Disease: Menkes disease. (15176369)
2004
22
The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway. (12812980)
2003
23
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. (11241493)
2001
24
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. (11936860)
2001
25
Neurodegeneration in the animal model of Menkes' disease involves Bcl-2-linked apoptosis. (11311799)
2001
26
Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. (11350187)
2001
27
Clinical manifestations and treatment of Menkes disease and its variants. (10453199)
1999
28
The cell biology of the Menkes disease protein. (10079815)
1999
29
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. (10319589)
1999
30
Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens. (10676531)
1999
31
Menkes disease and Wilson disease: two sides of the same copper coin. Part II: Wilson disease. (10595669)
1999
32
Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. (9380433)
1997
33
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion. (8812725)
1996
34
Radiological findings in a case of Menkes' disease. (7758009)
1995
35
Characterization of the exon structure of the Menkes disease gene using vectorette PCR. (7607665)
1995
36
Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis. (7807930)
1994
37
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. (8298641)
1993
38
Are X-linked cutis laxa and Menkes disease allelic? (8490656)
1993
39
Menkes disease: an X-linked neurological disorder of the copper metabolism. (1341968)
1992
40
Muscle cell cultures in Menkes' disease: copper accumulation in myotubes. (2166183)
1990
41
The relationship of excess copper accumulation by fibroblasts from the brindled mouse model of Menkes disease to the primary defect. (2334401)
1990
42
Menkes disease. (3225036)
1988
43
Menkes disease: a Golgi and electron microscopic study of the cerebellar cortex. (3390973)
1988
44
A case of Menkes disease cell culture examination and elastic cartilage electronmicroscopy. (3843743)
1985
45
Studies of lipids, lipoproteins, and apolipoproteins in Menkes' disease. (6483510)
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
Pili torti as marker for carriers of Menkes disease. (76144)
1978
49
Menkes' disease--a hypothesis with recommandations for future investigations. (4446939)
1974
50
Brain-copper concentration in Menkes' disease. (4120683)
1973

Variations for Menkes Disease

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UniProtKB/Swiss-Prot genetic disease variations for Menkes Disease:

64 (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

Clinvar genetic disease variations for Menkes Disease:

6
id Gene Name Type Significance SNP ID Assembly Location
1ATP7ANM_000052.6(ATP7A): c.2938C> T (p.Arg980Ter)single nucleotide variantPathogenicrs72554649GRCh37Chr X, 77284768: 77284768
2ATP7AATP7A, IVS6DS, G-A, +1single nucleotide variantPathogenic
3ATP7ANM_000052.6(ATP7A): c.3056G> A (p.Gly1019Asp)single nucleotide variantPathogenicrs72554652GRCh37Chr X, 77284886: 77284886
4ATP7AATP7A, 8-BP DEL, NT408deletionPathogenic
5ATP7AATP7A, EX3-4 DELdeletionPathogenic
6ATP7ANM_000052.6(ATP7A): c.601C> T (p.Arg201Ter)single nucleotide variantPathogenicrs151340633GRCh37Chr X, 77244218: 77244218

Expression for genes affiliated with Menkes Disease

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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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Pathways related to Menkes Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ATP7B, ATP7A
2
Show member pathways
calcium transport I37
9.6ATP7A, ATP7B
3
Show member pathways
9.6ATP7B, ATP7A
49.1PGK1, CP
5
Show member pathways
8.8ATP7B, ATP7A, CP

Compounds for genes affiliated with Menkes Disease

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Compounds related to Menkes Disease according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1acyl phosphate4410.0ATP7B, ATP7A
2copper(i)4410.0ATP7B, ATP7A
3platinum44 5011.0ATP7A, ATP7B
4oxaliplatin44 50 1111.9ATP7A, ATP7B
5carboplatin44 50 1111.9ATP7A, ATP7B
6tyramine44 28 2411.7LOX, DBH
7l-amino acid449.7DBH, LOX
8copper histidine449.6ATP7A, CP
9tetrathiomolybdate449.6ATP7B, CP
10amine449.6DBH, LOX
11peptidylglycine449.5DBH, CP
12hypoxanthine44 24 1111.5PGK1, CP
13d penicillamine449.4LOX, CP
14hydrazine449.4LOX, CP
15levodopa44 1110.4CP, DBH
16cisplatin44 50 61 1112.3ATP7B, ATP7A, LOX
17alpha tocopherol449.2LOX, CP
18adp44 28 2411.2ATP7B, ATP7A, PGK1
19sialic acid449.1CP, ATP7A
20homocysteine44 2410.1LOX, CP
21lysine449.1DBH, PGK1, LOX
22aspartate449.1CP, ATP7A, ATP7B
23Adenosine triphosphate24 1110.1PGK1, ATP7A, ATP7B
24iron44 2410.0CP, DBH, ATP7B
25zinc44 249.9CP, ATP7A, ATP7B
26glucose448.8LOX, PGK1, DBH
27adenylate448.8DBH, CP, LOX
28atp44 289.8ATP7B, ATP7A, PGK1
29dexamethasone44 50 28 1111.7LOX, CP, DBH
30vegf448.7CP, PGK1, LOX
31cysteine448.4ATP7B, DBH, CP, LOX
32ascorbic acid44 249.4LOX, PGK1, CP, DBH
33lactate448.4LOX, PGK1, CP, DBH
34h2o2448.4LOX, PGK1, CP, DBH
35copper44 249.1ATP7B, ATP7A, DBH, CP, LOX
36Water248.1ATP7B, ATP7A, DBH, CP, LOX
37oxygen44 249.0ATP7A, DBH, CP, PGK1, LOX
38superoxide44 248.5LOX, PGK1, CP, DBH, ATP7A, ATP7B

GO Terms for genes affiliated with Menkes Disease

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

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.6ATP7A, ATP7B
2late endosomeGO:0057709.5ATP7A, ATP7B
3trans-Golgi networkGO:0058029.3ATP7A, ATP7B

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1copper ion importGO:0156779.9ATP7A, ATP7B
2cellular copper ion homeostasisGO:0068789.8ATP7A, ATP7B
3norepinephrine biosynthetic processGO:0424219.8ATP7A, DBH
4blood vessel remodelingGO:0019749.7DBH, ATP7A
5elastic fiber assemblyGO:0482519.6ATP7A, LOX
6lactationGO:0075959.6ATP7A, ATP7B
7ion transmembrane transportGO:0342209.6ATP7B, ATP7A
8collagen fibril organizationGO:0301999.6ATP7A, LOX
9blood vessel developmentGO:0015689.5LOX, ATP7A
10locomotory behaviorGO:0076269.2DBH, ATP7A
11copper ion transportGO:0068259.0ATP7B, ATP7A, CP
12transmembrane transportGO:0550858.7CP, ATP7A, ATP7B

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

idNameGO IDScoreTop Affiliating Genes
1copper-exporting ATPase activityGO:0040089.6ATP7A, ATP7B
2copper ion bindingGO:0055077.3LOX, CP, DBH, ATP7A, ATP7B

Products for genes affiliated with Menkes Disease

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Sources for Menkes Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet