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

About this section

Aliases & Descriptions for Menkes Disease:

Name: Menkes Disease 50 11 69 46 23 24 47 13 52 68 12 48
Menkes Kinky Hair Syndrome 23 25 37 66
Copper Transport Disease 11 46 24 25
Menkes Syndrome 46 24 52 68
Mnk 23 24 52 68
Steely Hair Syndrome 11 24 52
Steely Hair Disease 46 52 68
Kinky Hair Disease 46 52 68
X-Linked Copper Deficiency 24 52
Trichopoliodystrophy 23 52
 
Kinky Hair Syndrome 24 52
Menkea Syndrome 46 24
Md 52 2
Mk 24 52
Menkes Kinky-Hair Syndrome 11
Menkes Kinky Hair Disease 23
Hypocupremia, Congenital 24
Steely Hair Diesase 23
Mnkd 68

Characteristics:

Orphanet epidemiological data:

52
menkes disease:
Inheritance: X-linked recessive; Age of onset: Neonatal; Age of death: early childhood

HPO:

62
menkes disease:
Inheritance: x-linked recessive inheritance
Mortality/Aging: death in childhood


Classifications:



External Ids:

OMIM50 309400
Disease Ontology11 DOID:1838
MeSH37 D007706
NCIt43 C75486
SNOMED-CT60 59178007
Orphanet52 ORPHA565
ICD10 via Orphanet29 E83.0
UMLS via Orphanet67 C0022716
MedGen35 C0022716

Summaries for Menkes Disease

About this section
NIH Rare Diseases:46 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 menkes kinky hair syndrome, is related to acquired kinky hair syndrome and mckusick-kaufman syndrome, and has symptoms including abnormality of the palate, microcephaly and full cheeks. An important gene associated with Menkes Disease is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways is Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include skin, brain and liver, and related mouse phenotypes are pigmentation and liver/biliary system.

UniProtKB/Swiss-Prot:68 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.

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:47 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.

Genetics Home Reference:24 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:50 Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features... (309400) more...

Wikipedia:69 Menkes disease (MNK), also known as Menkes syndrome, is a X-linked recessive disorder that affects... more...

Related Diseases for Menkes Disease

About this section

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



Diseases related to menkes disease

Symptoms for Menkes Disease

About this section

Symptoms by clinical synopsis from OMIM:

309400

Clinical features from OMIM:

309400

Symptoms:

 52 (show all 55)
  • bladder diverticulum
  • inguinal hernia
  • abnormality of the palate
  • microcephaly
  • prominent occiput
  • full cheeks
  • mask-like facies
  • micrognathia
  • behavioral abnormality
  • pectus excavatum
  • narrow chest
  • chondrocalcinosis
  • osteoporosis
  • abnormality of the metaphyses
  • dry skin
  • hyperextensible skin
  • atypical scarring of skin
  • thickened skin
  • intellectual disability
  • seizures
  • muscular hypotonia
  • spasticity
  • hypertonia
  • muscle weakness
  • intrauterine growth retardation
  • umbilical hernia
  • hypoglycemia
  • nausea and vomiting
  • malabsorption
  • hypothermia
  • chorea
  • intracranial hemorrhage
  • woolly hair
  • gastrointestinal hemorrhage
  • developmental regression
  • aneurysm
  • wormian bones
  • osteomyelitis
  • recurrent fractures
  • venous insufficiency
  • abnormality of the carotid arteries
  • hypopigmentation of hair
  • joint hyperflexibility
  • bowing of the long bones
  • prolonged neonatal jaundice
  • spontaneous hematomas
  • sparse hair
  • tarsal synostosis
  • feeding difficulties in infancy
  • aplasia/hypoplasia of the abdominal wall musculature
  • fatigue
  • arterial stenosis
  • exostoses
  • hernia
  • sepsis

HPO human phenotypes related to Menkes Disease:

(show all 68)
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 atypical scarring of skin typical (50%) HP:0000987
26 thickened skin typical (50%) HP:0001072
27 muscle weakness typical (50%) HP:0001324
28 abnormality of the liver typical (50%) HP:0001392
29 nausea and vomiting typical (50%) HP:0002017
30 malabsorption typical (50%) HP:0002024
31 wormian bones typical (50%) HP:0002645
32 venous insufficiency typical (50%) HP:0005293
33 abnormality of the carotid arteries typical (50%) HP:0005344
34 cognitive impairment typical (50%) HP:0100543
35 arterial stenosis typical (50%) HP:0100545
36 exostoses typical (50%) HP:0100777
37 bladder diverticulum occasional (7.5%) HP:0000015
38 chondrocalcinosis occasional (7.5%) HP:0000934
39 intrauterine growth retardation occasional (7.5%) HP:0001511
40 hypoglycemia occasional (7.5%) HP:0001943
41 hypothermia occasional (7.5%) HP:0002045
42 chorea occasional (7.5%) HP:0002072
43 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
44 osteomyelitis occasional (7.5%) HP:0002754
45 recurrent fractures occasional (7.5%) HP:0002757
46 reduced bone mineral density occasional (7.5%) HP:0004349
47 bowing of the long bones occasional (7.5%) HP:0006487
48 spontaneous hematomas occasional (7.5%) HP:0007420
49 tarsal synostosis occasional (7.5%) HP:0008368
50 sepsis occasional (7.5%) HP:0100806
51 brachycephaly HP:0000248
52 microcephaly HP:0000252
53 abnormality of the face HP:0000271
54 osteoporosis HP:0000939
55 cutis laxa HP:0000973
56 hypopigmentation of the skin HP:0001010
57 intellectual disability HP:0001249
58 seizures HP:0001250
59 hypertonia HP:0001276
60 joint laxity HP:0001388
61 intrauterine growth retardation HP:0001511
62 hypothermia HP:0002045
63 intracranial hemorrhage HP:0002170
64 wormian bones HP:0002645
65 metaphyseal widening HP:0003016
66 short stature HP:0004322
67 metaphyseal spurs HP:0005054
68 sparse hair HP:0008070

UMLS symptoms related to Menkes Disease:


seizures, joint laxity

Drugs & Therapeutics for Menkes Disease

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CopperPhase 3, Phase 1, Phase 216615158-11-9, 7440-50-827099
Synonyms:
 
Copper
Cu
2histidineNutraceuticalPhase 3, Phase 1, Phase 237

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

About this section

Genetic tests related to Menkes Disease:

id Genetic test Affiliating Genes
1 Menkes Kinky-Hair Syndrome25
2 Copper Transport Disorders25
3 Menkes Disease23 ATP7A

Anatomical Context for Menkes Disease

About this section

MalaCards organs/tissues related to Menkes Disease:

34
Skin, Brain, Liver, Kidney, Bone, Eye, Temporal lobe

Animal Models for Menkes Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Menkes Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.7ATOX1, ATP7A, ATP7B, CP
2MP:00053708.4ATOX1, ATP7A, ATP7B, CP, IGF2R, PRL
3MP:00053866.6ATOX1, ATP7A, ATP7B, CCK, CP, DBH
4MP:00053766.4ATOX1, ATP7A, ATP7B, CCK, CP, DBH

Publications for Menkes Disease

About this section

Articles related to Menkes Disease:

(show top 50)    (show all 341)
idTitleAuthorsYear
1
Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report. (27631241)
2016
2
Reply to the letter: "Neonatal screening for Menkes disease using urine HVA/VMA ratio". (27093925)
2016
3
Autonomous requirements of the Menkes disease protein in the nervous system. (26269458)
2015
4
Menkes disease in affected females: the clinical disease spectrum. (25428120)
2015
5
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells. (26347346)
2015
6
Determination of the serum metallothionein (MT)1/2 concentration in patients with Wilson's disease and Menkes disease. (25172214)
2014
7
Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease. (24449426)
2014
8
Lactate and Pyruvate Levels in Blood and Cerebrospinal Fluid in Patients with Menkes Disease. (24388330)
2013
9
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. (21667063)
2012
10
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. (22992316)
2012
11
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. (20497190)
2011
12
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain. (20799318)
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
Internal jugular phlebectasia in Menkes disease. (17482283)
2007
17
Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy? (16630173)
2006
18
Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease. (16338116)
2006
19
The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic study. (15862194)
2005
20
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. (16098018)
2005
21
Menkes disease: a rare cause of bilateral inguinal hernias. (15845066)
2005
22
Downregulation of myelination, energy, and translational genes in Menkes disease brain. (15923132)
2005
23
Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family. (15238919)
2004
24
The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway. (12812980)
2003
25
Biochemical indicator for evaluation of connective tissue abnormalities in Menkes' disease. (12838205)
2003
26
Clinical manifestations and treatment of Menkes disease and its variants. (10453199)
1999
27
The cell biology of the Menkes disease protein. (10079815)
1999
28
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. (10319589)
1999
29
Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens. (10676531)
1999
30
Menkes disease and Wilson disease: two sides of the same copper coin. Part II: Wilson disease. (10595669)
1999
31
Menkes disease. New ocular and electroretinographic findings. (9627659)
1998
32
Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. (9380433)
1997
33
Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease. (9147645)
1997
34
Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. (9321757)
1997
35
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion. (8812725)
1996
36
An EcoRV polymorphism at the ovine Menkes disease locus (ATP7A). (7985861)
1994
37
Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice. (7959788)
1994
38
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. (8298641)
1993
39
Menkes disease. (3225036)
1988
40
Menkes disease: a Golgi and electron microscopic study of the cerebellar cortex. (3390973)
1988
41
Menkes' disease: long-term treatment with copper and D-penicillamine. (3181204)
1988
42
Metallothionein gene regulation in Menkes' disease. (3530953)
1986
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
Menkes' disease: neurophysiological aspects. (97372)
1978
48
Menkes' disease--a hypothesis with recommandations for future investigations. (4446939)
1974
49
Menkes' disease--a new leucodystrophy (?). A clinical and neuropathological review together with a new case. (4727735)
1973
50
The ocular pathology of Menkes' disease. (Kinky hair disease). (5699324)
1968

Variations for Menkes Disease

About this section

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

68 (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 variantPathogenicrs797045347GRCh38Chr X, 78011679: 78011679
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 variantPathogenicrs72554644GRCh38Chr X, 78012885: 78012885
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_2504dupGTGAAGAduplicationPathogenicrs797045358GRCh38Chr X, 78015753: 78015759
47ATP7ANM_000052.6(ATP7A): c.2499-1G> Asingle nucleotide variantPathogenicrs797045359GRCh37Chr X, 77271250: 77271250
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 variantPathogenicrs72554650GRCh37Chr X, 77284786: 77284786
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)indelPathogenicrs797045369GRCh37Chr X, 77286913: 77286917
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 variantPathogenicrs797045377GRCh37Chr X, 77289187: 77289187
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)deletionPathogenicrs797045380GRCh37Chr X, 77294359: 77294359
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 pathogenicrs797045396GRCh37Chr X, 77301030: 77301030
86ATP7ANM_000052.6(ATP7A): c.421_422delGA (p.Glu141Alafs)deletionPathogenicrs797045397GRCh37Chr X, 77244038: 77244039
87ATP7ANM_000052.6(ATP7A): c.4226+5G> Asingle nucleotide variantPathogenicrs797045398GRCh37Chr X, 77301074: 77301074
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

About this section
Search GEO for disease gene expression data for Menkes Disease.

Pathways for genes affiliated with Menkes Disease

About this section

Pathways related to Menkes Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.0ATP7A, ATP7B

GO Terms for genes affiliated with Menkes Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1trans-Golgi network transport vesicleGO:003014010.4ATP7A, IGF2R
2secretory granule membraneGO:003066710.4DBH, PAM
3late endosomeGO:000577010.0ATP7A, ATP7B, IGF2R
4sperm principal pieceGO:00972289.8DNAH8, PGAM4
5trans-Golgi networkGO:00058029.6ATP7A, ATP7B, IGF2R, PAM
6extracellular spaceGO:00056158.5CCK, CP, DBH, IGF2R, LOX, PAM
7membraneGO:00160208.0ATP7A, ATP7B, DBH, IGF2R, PAM, PGAM1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1copper ion importGO:001567710.4ATP7A, ATP7B
2copper ion exportGO:006000310.4ATP7A, ATP7B
3elastic fiber assemblyGO:004825110.4ATP7A, LOX
4canonical glycolysisGO:006162110.2PGAM1, PGK1
5intracellular copper ion transportGO:001568010.2ATOX1, ATP7B
6cellular copper ion homeostasisGO:000687810.0ATOX1, ATP7A, ATP7B
7regulation of pentose-phosphate shuntGO:004345610.0PGAM1, PGAM4
8response to copper ionGO:00466889.7ATP7A, ATP7B, CP, PAM
9blood vessel remodelingGO:00019749.7ATP7A, DBH
10glycolytic processGO:00060969.6PGAM1, PGAM4
11gluconeogenesisGO:00060949.6PGAM1, PGAM4, PGK1
12copper ion transportGO:00068259.5ATOX1, ATP7A, ATP7B, CP
13lactationGO:00075958.9ATP7A, ATP7B, PAM, PRL

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1copper-exporting ATPase activityGO:000400810.3ATP7A, ATP7B
2copper ion transmembrane transporter activityGO:000537510.2ATOX1, ATP7A
3copper-dependent protein bindingGO:003276710.2ATOX1, ATP7A
4phosphoglycerate mutase activityGO:000461910.1PGAM1, PGAM4
5bisphosphoglycerate mutase activityGO:00040829.9PGAM1, PGAM4
62,3-bisphosphoglycerate-dependent phosphoglycerate mutase activityGO:00465389.9PGAM1, PGAM4
7bisphosphoglycerate 2-phosphatase activityGO:00040839.9PGAM1, PGAM4
8L-ascorbic acid bindingGO:00314189.6DBH, PAM
9copper ion bindingGO:00055078.5ATOX1, ATP7A, ATP7B, CP, DBH, LOX

Sources for Menkes Disease

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet