MCID: MNK001
MIFTS: 61

Menkes Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for Menkes Disease

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Aliases & Descriptions for Menkes Disease:

Name: Menkes Disease 49 10 11 68 45 22 23 46 47 12 51 67
Copper Transport Disease 10 68 45 23 24
Mnk 68 22 23 51 67
Menkes Kinky Hair Syndrome 22 36 24 65
Steely Hair Syndrome 10 68 23 51
Menkes Syndrome 45 23 51 67
Steely Hair Disease 45 51 67
Kinky Hair Disease 45 51 67
Menkea Syndrome 68 45 23
Mk 68 23 51
 
X-Linked Copper Deficiency 23 51
Trichopoliodystrophy 22 51
Kinky Hair Syndrome 23 51
Md 51 2
Menkes Kinky-Hair Syndrome 10
Menkes Kinky Hair Disease 22
Hypocupremia, Congenital 23
Steely Hair Diesase 22
Mnkd 67

Characteristics:

Orphanet epidemiological data:

51
menkes disease:
Inheritance: X-linked recessive; Age of onset: Neonatal; Age of death: early childhood

HPO:

61
menkes disease:
Mortality/Aging: death in childhood
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 309400
Disease Ontology10 DOID:1838
MeSH36 D007706
NCIt42 C75486
SNOMED-CT59 59178007
Orphanet51 565
ICD10 via Orphanet28 E83.0
UMLS via Orphanet66 C0022716
MedGen34 C0022716
UMLS65 C0022716

Summaries for Menkes Disease

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NIH Rare Diseases:45 Menkes disease is a disorder that affects copper levels in the body. it is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. additional signs and symptoms may be present. children with menkes syndrome typically begin to develop very severe symptoms during infancy. occipital horn syndrome is one of the less severe forms of menkes syndrome that begins in early to middle childhood. menkes disease is caused by mutations in the atp7a gene. it is inherited in an x-linked recessive pattern. early treatment with copper may slightly improve the prognosis in some affected children. last updated: 12/2/2015

MalaCards based summary: Menkes Disease, also known as copper transport disease, is related to occipital horn syndrome and acquired kinky hair syndrome, and has symptoms including abnormal hair quantity, aplasia/hypoplasia of the abdominal wall musculature and feeding difficulties in infancy. An important gene associated with Menkes Disease is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways are Mineral absorption and Detoxification of Reactive Oxygen Species. Affiliated tissues include skin, liver and brain, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Genetics Home Reference:23 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.

OMIM:49 Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features... (309400) more...

CDC:2 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:46 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.

UniProtKB/Swiss-Prot:67 Menkes disease: An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate.

Wikipedia:68 Menkes disease (MNK), also known as Menkes syndrome, is a X-linked recessive disorder that affects... more...

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:

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

UMLS symptoms related to Menkes Disease:


joint laxity, seizures

Drugs & Therapeutics for Menkes Disease

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Drugs for Menkes Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MicronutrientsPhase 3, Phase 1, Phase 23901
2
CopperPhase 3, Phase 1, Phase 21587440-50-827099
Synonyms:
 
Copper
Cu
3Trace ElementsPhase 3, Phase 1, Phase 23900
4histidineNutraceuticalPhase 3, Phase 1, Phase 236

Interventional clinical trials:

idNameStatusNCT IDPhase
1Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper DeficiencyRecruitingNCT00811785Phase 3
2Copper Histidine Therapy for Menkes DiseasesCompletedNCT00001262Phase 1, Phase 2

Search NIH Clinical Center for Menkes Disease


Cochrane evidence based reviews: menkes kinky hair syndrome

Genetic Tests for Menkes Disease

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Genetic tests related to Menkes Disease:

id Genetic test Affiliating Genes
1 Menkes Disease22 ATP7A

Anatomical Context for Menkes Disease

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MalaCards organs/tissues related to Menkes Disease:

33
Skin, Liver, Brain, Kidney, Bone, Breast, Prostate

Animal Models for Menkes Disease or affiliated genes

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MGI Mouse Phenotypes related to Menkes Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.7ADCYAP1, ATOX1, ATP7A, ATP7B, CP, IGF2R
2MP:00053857.7ATOX1, ATP7A, CP, DBH, IGF2R, LOX
3MP:00053867.1ADCYAP1, ATOX1, ATP7A, ATP7B, CP, DBH
4MP:00053766.1ADCYAP1, ATOX1, ATP7A, ATP7B, CP, DBH

Publications for Menkes Disease

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Articles related to Menkes Disease:

(show top 50)    (show all 337)
idTitleAuthorsYear
1
Reply to the letter: "Neonatal screening for Menkes disease using urine HVA/VMA ratio". (27093925)
2016
2
Autonomous requirements of the Menkes disease protein in the nervous system. (26269458)
2015
3
Changes in body weight and height in survivors of Menkes disease. (25150085)
2014
4
Determination of the serum metallothionein (MT)1/2 concentration in patients with Wilson's disease and Menkes disease. (25172214)
2014
5
Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease. (24449426)
2014
6
Imaging features that allow for the recognition of Menkes disease. (24863520)
2014
7
Acute posterior fossa epidural hematoma in a newborn infant with Menkes disease. (24488163)
2014
8
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease. (24100245)
2013
9
Lactate and Pyruvate Levels in Blood and Cerebrospinal Fluid in Patients with Menkes Disease. (24388330)
2013
10
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. (21667063)
2012
11
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. (22992316)
2012
12
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. (20497190)
2011
13
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain. (20799318)
2010
14
Menkes disease with gastroesophageal reflux disease and successful surgical treatment: a case report and literature review. (20718197)
2010
15
A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease. (19429807)
2009
16
Anesthesia for a child with Menkes disease. (18673308)
2008
17
In vivo correction of a Menkes disease model using antisense oligonucleotides. (18316734)
2008
18
Menkes disease mimicking non-accidental injury. (17056864)
2006
19
Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy? (16630173)
2006
20
The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic study. (15862194)
2005
21
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. (16098018)
2005
22
Menkes disease: a rare cause of bilateral inguinal hernias. (15845066)
2005
23
The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway. (12812980)
2003
24
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. (11241493)
2001
25
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. (11936860)
2001
26
Neurodegeneration in the animal model of Menkes' disease involves Bcl-2-linked apoptosis. (11311799)
2001
27
Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. (11350187)
2001
28
Clinical manifestations and treatment of Menkes disease and its variants. (10453199)
1999
29
The cell biology of the Menkes disease protein. (10079815)
1999
30
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. (10319589)
1999
31
Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens. (10676531)
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:

67 (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:

5 (show all 89)
id Gene Variation Type Significance SNP ID Assembly Location
1ATP7ANM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu)single nucleotide variantPathogenicrs151340631GRCh37Chr X, 77266713: 77266713
2ATP7ANM_000052.6(ATP7A): c.2938C> T (p.Arg980Ter)single nucleotide variantPathogenicrs72554649GRCh37Chr X, 77284768: 77284768
3ATP7AATP7A, IVS6DS, G-A, +1single nucleotide variantPathogenic
4ATP7ANM_000052.6(ATP7A): c.3056G> A (p.Gly1019Asp)single nucleotide variantPathogenicrs72554652GRCh37Chr X, 77284886: 77284886
5ATP7AATP7A, 8-BP DEL, NT408deletionPathogenic
6ATP7AATP7A, EX3-4 DELdeletionPathogenic
7ATP7ANM_000052.6(ATP7A): c.3911A> G (p.Asn1304Ser)single nucleotide variantPathogenicrs151340632GRCh37Chr X, 77298192: 77298192
8ATP7ANM_000052.6(ATP7A): c.601C> T (p.Arg201Ter)single nucleotide variantPathogenicrs151340633GRCh37Chr X, 77244218: 77244218
9ATP7ANM_000052.6(ATP7A): c.1947-1G> Asingle nucleotide variantPathogenicrs794729231GRCh37Chr X, 77266945: 77266945
10ATP7ANM_000052.6(ATP7A): c.1006G> T (p.Glu336Ter)single nucleotide variantPathogenicrs797045325GRCh38Chr X, 77989628: 77989628
11ATP7ANM_000052.6(ATP7A): c.1020_1024dupGGGGC (p.Leu342Argfs)duplicationPathogenicrs797045327GRCh38Chr X, 77989642: 77989646
12ATP7ANM_000052.6(ATP7A): c.1225C> T (p.Arg409Ter)single nucleotide variantPathogenicrs72554636GRCh37Chr X, 77245343: 77245343
13ATP7ANM_000052.6(ATP7A): c.1355delT (p.Val452Glufs)deletionPathogenicrs797045329GRCh38Chr X, 77998496: 77998496
14ATP7ANM_000052.6(ATP7A): c.1460C> A (p.Ser487Ter)single nucleotide variantPathogenicrs797045330GRCh38Chr X, 77998601: 77998601
15ATP7ANM_000052.6(ATP7A): c.1544-1G> Asingle nucleotide variantPathogenicrs797045331GRCh38Chr X, 78003072: 78003072
16ATP7ANM_000052.6(ATP7A): c.1639C> T (p.Arg547Ter)single nucleotide variantPathogenicrs797045332GRCh38Chr X, 78003168: 78003168
17ATP7ANM_000052.6(ATP7A): c.1667_1668delTA (p.Ile556Argfs)deletionPathogenicrs797045333GRCh38Chr X, 78003196: 78003197
18ATP7ANM_000052.6(ATP7A): c.1782C> G (p.Tyr594Ter)single nucleotide variantPathogenicrs797045336GRCh38Chr X, 78009176: 78009176
19ATP7ANM_000052.6(ATP7A): c.1831G> T (p.Glu611Ter)single nucleotide variantPathogenicrs797045337GRCh38Chr X, 78009225: 78009225
20ATP7ANM_000052.6(ATP7A): c.1870-1G> Csingle nucleotide variantPathogenicrs797045338GRCh38Chr X, 78011175: 78011175
21ATP7ANM_000052.6(ATP7A): c.1874T> G (p.Leu625Ter)single nucleotide variantPathogenicrs797045339GRCh38Chr X, 78011180: 78011180
22ATP7ANM_000052.6(ATP7A): c.1885G> C (p.Ala629Pro)single nucleotide variantLikely pathogenicrs72554639GRCh38Chr X, 78011191: 78011191
23ATP7ANM_000052.6(ATP7A): c.1933C> T (p.Arg645Ter)single nucleotide variantPathogenicrs72554640GRCh38Chr X, 78011239: 78011239
24ATP7ANM_000052.6(ATP7A): c.1946+1G> Csingle nucleotide variantPathogenicrs797045340GRCh37Chr X, 77266750: 77266750
25ATP7ANM_000052.6(ATP7A): c.1946+5G> Asingle nucleotide variantPathogenicrs797045341GRCh37Chr X, 77266754: 77266754
26ATP7ANM_000052.6(ATP7A): c.1947-1G> Csingle nucleotide variantPathogenicrs794729231GRCh37Chr X, 77266945: 77266945
27ATP7ANM_000052.6(ATP7A): c.1950G> A (p.Trp650Ter)single nucleotide variantPathogenicrs797045342GRCh37Chr X, 77266949: 77266949
28ATP7ANM_000052.6(ATP7A): c.1978_2008dup31 (p.Tyr670Phefs)duplicationPathogenicrs797045343GRCh38Chr X, 78011480: 78011510
29ATP7ANM_000052.6(ATP7A): c.1996G> A (p.Gly666Arg)single nucleotide variantLikely pathogenicrs797045344GRCh38Chr X, 78011498: 78011498
30ATP7ANM_000052.6(ATP7A): c.1996G> C (p.Gly666Arg)single nucleotide variantPathogenicrs797045344GRCh38Chr X, 78011498: 78011498
31ATP7ANM_000052.6(ATP7A): c.2160T> A (p.Cys720Ter)single nucleotide variantPathogenicrs797045346GRCh38Chr X, 78011662: 78011662
32ATP7ANM_000052.6(ATP7A): c.2172+5G> Csingle nucleotide variantPathogenicrs797045347GRCh37Chr X, 77267176: 77267176
33ATP7ANM_000052.6(ATP7A): c.2172G> T (p.Gln724His)single nucleotide variantLikely pathogenicrs797045348GRCh37Chr X, 77267171: 77267171
34ATP7ANM_000052.6(ATP7A): c.2173-2A> Gsingle nucleotide variantPathogenicrs797045349GRCh37Chr X, 77268374: 77268374
35ATP7ANM_000052.6(ATP7A): c.2179G> A (p.Gly727Arg)single nucleotide variantPathogenicrs72554644GRCh37Chr X, 77268382: 77268382
36ATP7ANM_000052.6(ATP7A): c.2179G> T (p.Gly727Ter)single nucleotide variantPathogenicrs72554644GRCh37Chr X, 77268382: 77268382
37ATP7ANM_000052.6(ATP7A): c.2183G> A (p.Gly728Asp)single nucleotide variantLikely pathogenicrs797045350GRCh37Chr X, 77268386: 77268386
38ATP7ANM_000052.6(ATP7A): c.2187G> A (p.Trp729Ter)single nucleotide variantPathogenicrs797045351GRCh37Chr X, 77268390: 77268390
39ATP7ANM_000052.6(ATP7A): c.2248_2251dupATTG (p.Val751Aspfs)duplicationPathogenicrs797045352GRCh38Chr X, 78012954: 78012957
40ATP7ANM_000052.6(ATP7A): c.2302delG (p.Ala768Glnfs)deletionPathogenicrs797045353GRCh38Chr X, 78013008: 78013008
41ATP7ANM_000052.6(ATP7A): c.2357T> G (p.Met786Arg)single nucleotide variantPathogenicrs797045354GRCh38Chr X, 78013063: 78013063
42ATP7ANM_000052.6(ATP7A): c.2383C> T (p.Arg795Ter)single nucleotide variantPathogenicrs72554645GRCh38Chr X, 78013089: 78013089
43ATP7ANM_000052.6(ATP7A): c.2395_2405delCATATAGCAAAinsAGCATC (p.His799Serfs)indelPathogenicrs797045355GRCh38Chr X, 78013101: 78013111
44ATP7ANM_000052.6(ATP7A): c.2405_2406+1delinsTindelPathogenicrs797045356GRCh38Chr X, 78013111: 78013113
45ATP7ANM_000052.6(ATP7A): c.2498+2T> Asingle nucleotide variantPathogenicrs797045357GRCh38Chr X, 78014755: 78014755
46ATP7ANM_000052.6(ATP7A): c.2499-1_2504dupGTGAAGAduplicationPathogenicrs797045358GRCh37Chr X, 77271250: 77271256
47ATP7ANM_000052.6(ATP7A): c.2499-1G> Asingle nucleotide variantPathogenicrs797045359GRCh38Chr X, 78015753: 78015753
48ATP7ANM_000052.6(ATP7A): c.2555C> T (p.Pro852Leu)single nucleotide variantPathogenicrs797045360GRCh38Chr X, 78015810: 78015810
49ATP7ANM_000052.6(ATP7A): c.2645dupC (p.Lys883Terfs)duplicationPathogenicrs797045361GRCh38Chr X, 78020262: 78020262
50ATP7ANM_000052.6(ATP7A): c.2750T> A (p.Val917Asp)single nucleotide variantLikely pathogenicrs797045362GRCh37Chr X, 77275864: 77275864
51ATP7ANM_000052.6(ATP7A): c.2781G> C (p.Lys927Asn)single nucleotide variantLikely pathogenicrs797045363GRCh38Chr X, 78020398: 78020398
52ATP7ANM_000052.6(ATP7A): c.2903A> G (p.Glu968Gly)single nucleotide variantLikely pathogenicrs138958687GRCh38Chr X, 78021066: 78021066
53ATP7ANM_000052.6(ATP7A): c.2916+3_2916+6deldeletionPathogenicrs797045364GRCh38Chr X, 78021082: 78021085
54ATP7ANM_000052.6(ATP7A): c.2956C> T (p.Arg986Ter)single nucleotide variantPathogenicrs72554650GRCh38Chr X, 78029289: 78029289
55ATP7ANM_000052.6(ATP7A): c.3002C> T (p.Pro1001Leu)single nucleotide variantLikely pathogenicrs797045365GRCh37Chr X, 77284832: 77284832
56ATP7ANM_000052.6(ATP7A): c.3068_3082delGCATACTAATAAAAG (p.Ile1024_Gly1028del)deletionPathogenicrs797045366GRCh38Chr X, 78029401: 78029415
57ATP7ANM_000052.6(ATP7A): c.3112-1G> Asingle nucleotide variantPathogenicrs797045367GRCh38Chr X, 78031399: 78031399
58ATP7ANM_000052.6(ATP7A): c.3124delG (p.Val1042Tyrfs)deletionPathogenicrs797045368GRCh38Chr X, 78031412: 78031412
59ATP7ANM_000052.6(ATP7A): c.3127_3131delTTTGAinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly)indelPathogenicrs797045369GRCh38Chr X, 78031415: 78031419
60ATP7ANM_000052.6(ATP7A): c.3132T> G (p.Asp1044Glu)single nucleotide variantPathogenicrs797045370GRCh38Chr X, 78031420: 78031420
61ATP7ANM_000052.6(ATP7A): c.3152_3156delACGGAins4indelPathogenicrs797045371GRCh38Chr X, 78031440: 78031444
62ATP7ANM_000052.6(ATP7A): c.3285T> G (p.Tyr1095Ter)single nucleotide variantPathogenicrs797045372GRCh37Chr X, 77287071: 77287071
63ATP7ANM_000052.6(ATP7A): c.3288C> A (p.Cys1096Ter)single nucleotide variantPathogenicrs797045373GRCh38Chr X, 78031576: 78031576
64ATP7ANM_000052.6(ATP7A): c.3294+1G> Tsingle nucleotide variantLikely pathogenicrs797045374GRCh38Chr X, 78031583: 78031583
65ATP7ANM_000052.6(ATP7A): c.3340delG (p.Val1114Cysfs)deletionPathogenicrs797045375GRCh37Chr X, 77289148: 77289148
66ATP7ANM_000052.6(ATP7A): c.3352G> T (p.Gly1118Cys)single nucleotide variantLikely pathogenicrs797045376GRCh37Chr X, 77289160: 77289160
67ATP7ANM_000052.6(ATP7A): c.3379G> T (p.Glu1127Ter)single nucleotide variantPathogenicrs797045377GRCh38Chr X, 78033689: 78033689
68ATP7ANM_000052.6(ATP7A): c.3466C> T (p.Gln1156Ter)single nucleotide variantPathogenicrs797045378GRCh37Chr X, 77289274: 77289274
69ATP7ANM_000052.6(ATP7A): c.3502C> T (p.Gln1168Ter)single nucleotide variantPathogenicrs797045379GRCh37Chr X, 77289310: 77289310
70ATP7ANM_000052.6(ATP7A): c.3537delA (p.Val1180Serfs)deletionPathogenicrs797045380GRCh38Chr X, 78038861: 78038861
71ATP7ANM_000052.6(ATP7A): c.3764G> A (p.Gly1255Glu)single nucleotide variantPathogenicrs797045382GRCh38Chr X, 78040696: 78040696
72ATP7ANM_000052.6(ATP7A): c.3774delTinsATGACTGG (p.Ser1258Argfs)indelPathogenicrs797045383GRCh37Chr X, 77296204: 77296204
73ATP7ANM_000052.6(ATP7A): c.3775_3776delAAinsTTAC (p.Lys1259Leufs)indelPathogenicrs797045384GRCh37Chr X, 77296205: 77296206
74ATP7ANM_000052.6(ATP7A): c.3800A> T (p.Gln1267Leu)single nucleotide variantLikely pathogenicrs797045385GRCh37Chr X, 77296230: 77296230
75ATP7ANM_000052.6(ATP7A): c.3801+1G> Tsingle nucleotide variantPathogenicrs797045386GRCh37Chr X, 77296232: 77296232
76ATP7ANM_000052.6(ATP7A): c.3801+4A> Gsingle nucleotide variantLikely pathogenicrs797045387GRCh38Chr X, 78040737: 78040737
77ATP7ANM_000052.6(ATP7A): c.3920C> G (p.Pro1307Arg)single nucleotide variantPathogenicrs797045388GRCh38Chr X, 78042703: 78042703
78ATP7ANM_000052.6(ATP7A): c.3920delC (p.Pro1307Glnfs)deletionPathogenicrs797045389GRCh37Chr X, 77298201: 77298201
79ATP7ANM_000052.6(ATP7A): c.3943G> A (p.Gly1315Arg)single nucleotide variantPathogenicrs797045390GRCh37Chr X, 77298224: 77298224
80ATP7ANM_000052.6(ATP7A): c.4005+1G> Tsingle nucleotide variantPathogenicrs797045391GRCh38Chr X, 78042789: 78042789
81ATP7ANM_000052.6(ATP7A): c.4014_4016delTCT (p.Leu1339del)deletionPathogenicrs797045392GRCh37Chr X, 77298823: 77298825
82ATP7ANM_000052.6(ATP7A): c.4123+1G> Asingle nucleotide variantPathogenicrs797045393GRCh38Chr X, 78043435: 78043435
83ATP7ANM_000052.6(ATP7A): c.4123G> A (p.Gly1375Arg)single nucleotide variantLikely pathogenicrs797045394GRCh38Chr X, 78043434: 78043434
84ATP7ANM_000052.6(ATP7A): c.4132dupA (p.Met1378Asnfs)duplicationPathogenicrs797045395GRCh37Chr X, 77300975: 77300975
85ATP7ANM_000052.6(ATP7A): c.4187C> T (p.Ser1396Leu)single nucleotide variantLikely pathogenicrs797045396GRCh38Chr X, 78045533: 78045533
86ATP7ANM_000052.6(ATP7A): c.421_422delGA (p.Glu141Alafs)deletionPathogenicrs797045397GRCh37Chr X, 77244038: 77244039
87ATP7ANM_000052.6(ATP7A): c.4226+5G> Asingle nucleotide variantPathogenicrs797045398GRCh38Chr X, 78045577: 78045577
88ATP7ANM_000052.6(ATP7A): c.598C> T (p.Gln200Ter)single nucleotide variantPathogenicrs797045399GRCh38Chr X, 77988719: 77988719
89ATP7ANM_000052.6(ATP7A): c.876delG (p.Ser293Glnfs)deletionPathogenicrs797045400GRCh37Chr X, 77244994: 77244994

Expression for genes affiliated with Menkes Disease

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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4ATOX1, ATP7A, MT2A
2
Show member pathways
9.3ATOX1, ATP7A, SOD1
38.9ATP7A, ATP7B, MT2A, SOD1

GO Terms for genes affiliated with Menkes Disease

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Cellular components related to Menkes Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuronal cell bodyGO:00430259.4ATP7A, PAM, SOD1

Biological processes related to Menkes Disease according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1copper ion importGO:001567710.7ATP7A, ATP7B
2blood vessel remodelingGO:000197410.6ATP7A, DBH
3metal ion transportGO:003000110.5ATOX1, ATP7B
4gluconeogenesisGO:000609410.1PGAM1, PGAM4
5response to reactive oxygen speciesGO:00003029.9ATP7A, SOD1
6response to copper ionGO:00466889.8ATP7A, ATP7B, CP, PAM
7locomotory behaviorGO:00076269.7ATP7A, SOD1
8agingGO:00075689.6CP, ELN, SOD1
9extracellular matrix organizationGO:00301989.6ATP7A, ELN, LOX
10response to amphetamineGO:00019759.3DBH, SOD1
11small molecule metabolic processGO:00442819.1DBH, MVK, PGAM1, PGK1, RHAG

Molecular functions related to Menkes Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bisphosphoglycerate mutase activityGO:00040829.6PGAM1, PGAM4
2phosphoglycerate mutase activityGO:00046199.3PGAM1, PGAM4

Sources for Menkes Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet