MD
MCID: MNK001
MIFTS: 73

Menkes Disease (MD) malady

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

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21Genetics Home Reference, 43NIH Rare Diseases, 4CDC, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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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 occipital horn syndrome and wilson disease, and has symptoms including hematomas, decreased hair pigmentation/hypopigmentation of hair and hypotrichosis/atrichia/atrichiasis/scalp hairlessness. 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 liver, and related mouse phenotypes are pigmentation and liver/biliary 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:4 Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others.  It is important to get help as early as possible.  Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.  

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:65 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

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8Disease Ontology, 9diseasecard, 65Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 22GTR, 20GeneTests, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



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 65 43 21 44 47 10 45 49
copper transport disease 8 65 43 21
steely hair syndrome 8 65 21 49
menkes syndrome 43 20 21 49
menkea syndrome 65 43 21
mnk 65 21 49
mk 65 21 49
menkes kinky-hair syndrome 8 22
x-linked copper deficiency 21 49
hypocupremia, congenital 65 21
steely hair disease 43 49
kinky hair syndrome 21 49
kinky hair disease 43 49
menkes kinky hair syndrome 62
trichopoliodystrophy 49
md 49


External Ids:

Disease Ontology8 DOID:1838
MeSH35 D007706
NCIt40 C75486
OMIM47 309400
SNOMED-CT58 59178007
ICD10 via Orphanet26 E83.0
UMLS via Orphanet63 C0022716
SNOMED-CT via Orphanet59 59178007

Related Diseases for Menkes Disease

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

309400

Clinical features from OMIM:

309400

Symptoms:

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

Drugs & Therapeutics for Menkes Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Menkes Disease

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Menkes Disease:

33
Brain, Skin, Liver, Kidney, Bone, Eye, Temporal lobe, Heart, Cortex

Animal Models for Menkes Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Menkes Disease:

37
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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52PubMed
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Articles related to Menkes Disease:

(show top 50)    (show all 297)
idTitleAuthorsYear
1
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease. (24100245)
2013
2
Lactate and Pyruvate Levels in Blood and Cerebrospinal Fluid in Patients with Menkes Disease. (24388330)
2013
3
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. (21667063)
2012
4
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. (22992316)
2012
5
Bilateral ultrasound transversus abdominis plane block in a patient affected from Menkes disease. (22803001)
2012
6
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. (20497190)
2011
7
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain. (20799318)
2010
8
Menkes disease with gastroesophageal reflux disease and successful surgical treatment: a case report and literature review. (20718197)
2010
9
A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease. (19429807)
2009
10
Anesthesia for a child with Menkes disease. (18673308)
2008
11
In vivo correction of a Menkes disease model using antisense oligonucleotides. (18316734)
2008
12
Menkes disease mimicking non-accidental injury. (17056864)
2006
13
Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy? (16630173)
2006
14
Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease. (16338116)
2006
15
The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic study. (15862194)
2005
16
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. (16098018)
2005
17
Menkes disease: a rare cause of bilateral inguinal hernias. (15845066)
2005
18
Gene symbol: ATP7A. Disease: Menkes disease. (15176369)
2004
19
The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway. (12812980)
2003
20
Biochemical indicator for evaluation of connective tissue abnormalities in Menkes' disease. (12838205)
2003
21
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. (11241493)
2001
22
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. (11936860)
2001
23
Neurodegeneration in the animal model of Menkes' disease involves Bcl-2-linked apoptosis. (11311799)
2001
24
Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. (11350187)
2001
25
Clinical manifestations and treatment of Menkes disease and its variants. (10453199)
1999
26
The cell biology of the Menkes disease protein. (10079815)
1999
27
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. (10319589)
1999
28
Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens. (10676531)
1999
29
Menkes disease and Wilson disease: two sides of the same copper coin. Part II: Wilson disease. (10595669)
1999
30
Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. (9380433)
1997
31
The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene. (9147646)
1997
32
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion. (8812725)
1996
33
Radiological findings in a case of Menkes' disease. (7758009)
1995
34
Characterization of the exon structure of the Menkes disease gene using vectorette PCR. (7607665)
1995
35
Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis. (7807930)
1994
36
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. (8298641)
1993
37
Are X-linked cutis laxa and Menkes disease allelic? (8490656)
1993
38
Menkes disease: an X-linked neurological disorder of the copper metabolism. (1341968)
1992
39
Muscle cell cultures in Menkes' disease: copper accumulation in myotubes. (2166183)
1990
40
The relationship of excess copper accumulation by fibroblasts from the brindled mouse model of Menkes disease to the primary defect. (2334401)
1990
41
Menkes disease. (3225036)
1988
42
Menkes disease: a Golgi and electron microscopic study of the cerebellar cortex. (3390973)
1988
43
A case of Menkes disease cell culture examination and elastic cartilage electronmicroscopy. (3843743)
1985
44
Studies of lipids, lipoproteins, and apolipoproteins in Menkes' disease. (6483510)
1984
45
Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. (6616879)
1983
46
Menkes' disease and swayback. A comparative study of two copper deficiency syndromes. (6668480)
1983
47
Pili torti as marker for carriers of Menkes disease. (76144)
1978
48
Menkes' disease: neurophysiological aspects. (97372)
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
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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2BioGPS, 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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50PathCards, 51PharmGKB, 55Reactome, 38NCBI BioSystems Database
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Pathways related to Menkes Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ATP7A, ATP7B
2
Show member pathways
calcium transport I38
9.6ATP7A, ATP7B
3
Show member pathways
9.6ATP7A, ATP7B
49.1CP, PGK1
5
Show member pathways
8.8CP, ATP7A, ATP7B

Compounds for genes affiliated with Menkes Disease

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45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 61Tocris Bioscience
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Compounds related to Menkes Disease according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1acyl phosphate4510.0ATP7B, ATP7A
2copper(i)4510.0ATP7B, ATP7A
3platinum45 5111.0ATP7A, ATP7B
4oxaliplatin45 51 1111.9ATP7A, ATP7B
5carboplatin45 51 1111.9ATP7A, ATP7B
6tyramine45 29 2411.7LOX, DBH
7l-amino acid459.7DBH, LOX
8copper histidine459.6ATP7A, CP
9tetrathiomolybdate459.6ATP7B, CP
10amine459.6DBH, LOX
11peptidylglycine459.5DBH, CP
12hypoxanthine45 24 1111.5PGK1, CP
13d penicillamine459.4LOX, CP
14hydrazine459.4LOX, CP
15levodopa45 1110.4CP, DBH
16cisplatin45 51 61 1112.3ATP7B, ATP7A, LOX
17alpha tocopherol459.2LOX, CP
18adp45 29 2411.2ATP7B, ATP7A, PGK1
19sialic acid459.1CP, ATP7A
20homocysteine45 2410.1LOX, CP
21lysine459.1DBH, PGK1, LOX
22aspartate459.1CP, ATP7A, ATP7B
23Adenosine triphosphate24 1110.1PGK1, ATP7A, ATP7B
24iron45 2410.0CP, DBH, ATP7B
25zinc45 249.9CP, ATP7A, ATP7B
26glucose458.8LOX, PGK1, DBH
27adenylate458.8DBH, CP, LOX
28atp45 299.8ATP7B, ATP7A, PGK1
29dexamethasone45 51 29 1111.7LOX, CP, DBH
30vegf458.7CP, PGK1, LOX
31cysteine458.4ATP7B, DBH, CP, LOX
32ascorbic acid45 249.4LOX, PGK1, CP, DBH
33lactate458.4LOX, PGK1, CP, DBH
34h2o2458.4LOX, PGK1, CP, DBH
35copper45 249.1ATP7B, ATP7A, DBH, CP, LOX
36Water248.1ATP7B, ATP7A, DBH, CP, LOX
37oxygen45 249.0ATP7A, DBH, CP, PGK1, LOX
38superoxide45 248.5LOX, PGK1, CP, DBH, ATP7A, ATP7B

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
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:0424219.8DBH, ATP7A
4blood vessel remodelingGO:0019749.7DBH, ATP7A
5lactationGO:0075959.7ATP7B, ATP7A
6elastic fiber assemblyGO:0482519.6ATP7A, LOX
7ion transmembrane transportGO:0342209.6ATP7A, ATP7B
8collagen fibril organizationGO:0301999.6ATP7A, LOX
9blood vessel developmentGO:0015689.4ATP7A, LOX
10locomotory behaviorGO:0076269.2DBH, ATP7A
11copper ion transportGO:0068259.0CP, ATP7A, ATP7B
12transmembrane transportGO:0550858.7ATP7B, ATP7A, CP

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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  • Antibodies
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Sources for Menkes Disease

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet