MNKD
MCID: MNK001
MIFTS: 60

Menkes Disease (MNKD) 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 52 11 71 48 24 25 49 54 70 12 50 13
Menkes Kinky Hair Syndrome 24 27 39 68
Copper Transport Disease 11 48 25 27
Menkes Syndrome 48 25 54 70
Mnk 24 25 54 70
Steely Hair Syndrome 11 25 54
Steely Hair Disease 48 54 70
Kinky Hair Disease 48 54 70
X-Linked Copper Deficiency 25 54
Trichopoliodystrophy 24 54
 
Kinky Hair Syndrome 25 54
Menkea Syndrome 48 25
Md 54 2
Mk 25 54
Menkes Kinky-Hair Syndrome 11
Menkes Kinky Hair Disease 24
Hypocupremia, Congenital 25
Steely Hair Diesase 24
Mnkd 70

Characteristics:

Orphanet epidemiological data:

54
menkes disease:
Inheritance: X-linked recessive; Age of onset: Neonatal; Age of death: early childhood

HPO:

64
menkes disease:
Inheritance: x-linked recessive inheritance
Mortality/Aging: death in childhood

Classifications:



External Ids:

OMIM52 309400
Disease Ontology11 DOID:1838
MeSH39 D007706
NCIt45 C75486
SNOMED-CT62 59178007
Orphanet54 ORPHA565
UMLS via Orphanet69 C0022716
ICD10 via Orphanet31 E83.0
MedGen37 C0022716

Summaries for Menkes Disease

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NINDS:49 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.  Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily. There is often extensive neurodegeneration in the gray matter of the brain. Arteries in the brain may be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.

MalaCards based summary: Menkes Disease, also known as menkes kinky hair syndrome, is related to acquired kinky hair syndrome and occipital horn syndrome, and has symptoms including seizures, seizures and joint laxity. An important gene associated with Menkes Disease is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and HIF-1-alpha transcription factor network. Affiliated tissues include bone, skin and brain, and related mouse phenotypes are pigmentation and cardiovascular system.

Genetics Home Reference:25 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.

NIH Rare Diseases:48 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

OMIM:52 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.

UniProtKB/Swiss-Prot:70 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:71 Menkes disease (MNK), also known as Menkes syndrome, is an 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 & Phenotypes for Menkes Disease

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Symptoms by clinical synopsis from OMIM:

309400

Clinical features from OMIM:

309400

Human phenotypes related to Menkes Disease:

 54 64 (show all 63)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bladder diverticulum64 54 Occasional (29-5%) HP:0000015
2 inguinal hernia64 54 Very frequent (99-80%) HP:0000023
3 abnormality of the palate64 54 Very frequent (99-80%) HP:0000174
4 microcephaly64 54 Very frequent (99-80%) HP:0000252
5 prominent occiput64 54 Frequent (79-30%) HP:0000269
6 full cheeks64 54 Frequent (79-30%) HP:0000293
7 mask-like facies64 54 Frequent (79-30%) HP:0000298
8 micrognathia64 54 Frequent (79-30%) HP:0000347
9 behavioral abnormality64 54 Frequent (79-30%) HP:0000708
10 pectus excavatum64 54 Very frequent (99-80%) HP:0000767
11 narrow chest64 54 Frequent (79-30%) HP:0000774
12 chondrocalcinosis64 54 Occasional (29-5%) HP:0000934
13 osteoporosis64 54 Occasional (29-5%) HP:0000939
14 abnormality of the metaphyses64 54 Frequent (79-30%) HP:0000944
15 dry skin64 54 Very frequent (99-80%) HP:0000958
16 hyperextensible skin64 54 Very frequent (99-80%) HP:0000974
17 atypical scarring of skin64 54 Frequent (79-30%) HP:0000987
18 thickened skin64 54 Frequent (79-30%) HP:0001072
19 intellectual disability64 54 Frequent (79-30%) HP:0001249
20 seizures64 54 Very frequent (99-80%) HP:0001250
21 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
22 spasticity64 54 Very frequent (99-80%) HP:0001257
23 hypertonia64 54 Very frequent (99-80%) HP:0001276
24 muscle weakness64 54 Frequent (79-30%) HP:0001324
25 intrauterine growth retardation64 54 Occasional (29-5%) HP:0001511
26 umbilical hernia64 54 Very frequent (99-80%) HP:0001537
27 hypoglycemia64 54 Occasional (29-5%) HP:0001943
28 nausea and vomiting64 54 Frequent (79-30%) HP:0002017
29 malabsorption64 54 Frequent (79-30%) HP:0002024
30 hypothermia64 54 Occasional (29-5%) HP:0002045
31 chorea64 54 Occasional (29-5%) HP:0002072
32 intracranial hemorrhage64 54 Very frequent (99-80%) HP:0002170
33 woolly hair64 54 Very frequent (99-80%) HP:0002224
34 gastrointestinal hemorrhage64 54 Occasional (29-5%) HP:0002239
35 developmental regression64 54 Very frequent (99-80%) HP:0002376
36 aneurysm64 54 Very frequent (99-80%) HP:0002617
37 wormian bones64 54 Frequent (79-30%) HP:0002645
38 osteomyelitis64 54 Occasional (29-5%) HP:0002754
39 recurrent fractures64 54 Occasional (29-5%) HP:0002757
40 venous insufficiency64 54 Frequent (79-30%) HP:0005293
41 abnormality of the carotid arteries64 54 Frequent (79-30%) HP:0005344
42 hypopigmentation of hair64 54 Very frequent (99-80%) HP:0005599
43 joint hyperflexibility64 54 Very frequent (99-80%) HP:0005692
44 bowing of the long bones64 54 Occasional (29-5%) HP:0006487
45 prolonged neonatal jaundice64 54 Frequent (79-30%) HP:0006579
46 spontaneous hematomas64 54 Occasional (29-5%) HP:0007420
47 sparse hair64 54 Very frequent (99-80%) HP:0008070
48 tarsal synostosis64 54 Occasional (29-5%) HP:0008368
49 feeding difficulties in infancy64 54 Very frequent (99-80%) HP:0008872
50 aplasia/hypoplasia of the abdominal wall musculature64 54 Very frequent (99-80%) HP:0010318
51 fatigue64 54 Very frequent (99-80%) HP:0012378
52 arterial stenosis64 54 Frequent (79-30%) HP:0100545
53 exostoses64 54 Frequent (79-30%) HP:0100777
54 hernia54 Very frequent (99-80%)
55 sepsis64 54 Occasional (29-5%) HP:0100806
56 brachycephaly64 HP:0000248
57 abnormality of the face64 HP:0000271
58 cutis laxa64 HP:0000973
59 hypopigmentation of the skin64 HP:0001010
60 joint laxity64 HP:0001388
61 metaphyseal widening64 HP:0003016
62 short stature64 HP:0004322
63 metaphyseal spurs64 HP:0005054

UMLS symptoms related to Menkes Disease:


seizures, joint laxity

MGI Mouse Phenotypes related to Menkes Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7ATOX1, ATP7A, ATP7B, CP
2MP:00053858.3ATOX1, ATP7A, CP, DBH, LOX, PAM

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
1
CopperapprovedPhase 3, Phase 1, Phase 218115158-11-9, 7440-50-827099
Synonyms:
 
Copper
Cu
2MicronutrientsPhase 3, Phase 1, Phase 26001
3Trace ElementsPhase 3, Phase 1, Phase 26001
4histidineNutraceuticalPhase 3, Phase 1, Phase 245

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 Kinky-Hair Syndrome27
2 Copper Transport Disorders27
3 Menkes Disease24 ATP7A

Anatomical Context for Menkes Disease

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MalaCards organs/tissues related to Menkes Disease:

36
Bone, Skin, Brain, Liver, Kidney, Eye, Temporal lobe

Publications for Menkes Disease

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Articles related to Menkes Disease:

(show top 50)    (show all 348)
idTitleAuthorsYear
1
Neuroimaging Changes in Menkes Disease, Part 1. (28495946)
2017
2
Neuroimaging Changes in Menkes Disease, Part 2. (28495940)
2017
3
Menkes Disease Mimicking Child Abuse. (28318055)
2017
4
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. (28389643)
2017
5
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease. (28397151)
2017
6
Menkes disease and response to copper histidine: An Indian case series. (28298846)
2017
7
Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis. (27629586)
2016
8
Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report. (27631241)
2016
9
Reply to the letter: "Neonatal screening for Menkes disease using urine HVA/VMA ratio". (27093925)
2016
10
Unusual skin manifestations in a patient with menkes disease. (27748070)
2016
11
The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria. (27226607)
2016
12
Neonatal screening for Menkes disease using urine HVA/VMA ratio. (27189264)
2016
13
Menkes disease: what a multidisciplinary approach can do. (27574440)
2016
14
Mottled Mice and Non-Mammalian Models of Menkes Disease. (26732058)
2015
15
Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease. (25583185)
2015
16
Menkes disease: importance of diagnosis with molecular analysis in the neonatal period. (26603002)
2015
17
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells. (26347346)
2015
18
Development of a therapeutic agent for menkes disease: solubilization of a copper-disulfiram complex. (25759057)
2015
19
Is It a Pathogenic ATP7A Variation and Is It Menkes Disease? (26137332)
2015
20
Autonomous requirements of the Menkes disease protein in the nervous system. (26269458)
2015
21
Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype. (25638460)
2015
22
Menkes disease with discordant phenotype in female monozygotic twins. (26239182)
2015
23
Editorial Focus on "Autonomous requirements of the Menkes disease protein in the nervous system". (26468209)
2015
24
Menkes disease in affected females: the clinical disease spectrum. (25428120)
2015
25
Copper mediated neurological disorder: Visions into amyotrophic lateral sclerosis, Alzheimer and Menkes disease. (24975171)
2014
26
Determination of the serum metallothionein (MT)1/2 concentration in patients with Wilson's disease and Menkes disease. (25172214)
2014
27
Role of optic microscopy for early diagnosis of Menkes disease. (25329126)
2014
28
Menkes disease - An important cause of early onset refractory seizures. (24891895)
2014
29
EPR Spectroscopy of a Clinically Active (1:2) Copper(II)-Histidine Complex Used in the Treatment of Menkes Disease: A Fourier Transform Analysis of a Fluid CW-EPR Spectrum. (24434671)
2014
30
PET imaging analysis with 64Cu in disulfiram treatment for aberrant copper biodistribution in Menkes disease mouse model. (24627433)
2014
31
Epilepsy in children with menkes disease: a systematic review of literature. (25038123)
2014
32
Modeling of Menkes disease via human induced pluripotent stem cells. (24468087)
2014
33
Insight into the gas-phase structure of a copper(II) L-histidine complex, the agent used to treat Menkes disease. (24528202)
2014
34
Menkes disease in Korea: ATP7A mutation and epilepsy phenotype. (24882692)
2014
35
Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease. (24449426)
2014
36
Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease. (24556394)
2014
37
Acute posterior fossa epidural hematoma in a newborn infant with Menkes disease. (24488163)
2014
38
Changes in body weight and height in survivors of Menkes disease. (25150085)
2014
39
Menkes disease presenting with epilepsia partialis continua. (25506448)
2014
40
Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients. (25218893)
2014
41
Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model. (25456742)
2014
42
Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment. (25281031)
2014
43
Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk]. (24927440)
2014
44
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients. (24919650)
2014
45
Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice - an animal model of Menkes disease. (25247420)
2014
46
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease. (25771438)
2014
47
Imaging features that allow for the recognition of Menkes disease. (24863520)
2014
48
A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease. (24630286)
2014
49
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease. (24100245)
2013
50
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. (23281160)
2013

Variations for Menkes Disease

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

70 (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 91)
id Gene Variation Type Significance SNP ID Assembly Location
1ATP7ANM_ 000052.6(ATP7A): c.1910C> T (p.Ser637Leu)SNVPathogenicrs151340631GRCh37Chr X, 77266713: 77266713
2ATP7ANM_ 000052.6(ATP7A): c.2938C> T (p.Arg980Ter)SNVPathogenicrs72554649GRCh37Chr X, 77284768: 77284768
3ATP7AATP7A, IVS6DS, G-A, +1SNVPathogenic
4ATP7ANM_ 000052.6(ATP7A): c.3056G> A (p.Gly1019Asp)SNVPathogenicrs72554652GRCh37Chr X, 77284886: 77284886
5ATP7AATP7A, 8-BP DEL, NT408deletionPathogenic
6ATP7AATP7A, EX3-4 DELdeletionPathogenic
7ATP7ANM_ 000052.6(ATP7A): c.3911A> G (p.Asn1304Ser)SNVPathogenicrs151340632GRCh37Chr X, 77298192: 77298192
8ATP7ANM_ 000052.6(ATP7A): c.601C> T (p.Arg201Ter)SNVPathogenicrs151340633GRCh37Chr X, 77244218: 77244218
9ATP7ANM_ 000052.6(ATP7A): c.1947-1G> ASNVPathogenicrs794729231GRCh37Chr X, 77266945: 77266945
10ATP7ANM_ 000052.6(ATP7A): c.1006G> T (p.Glu336Ter)SNVPathogenicrs797045325GRCh38Chr 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)SNVPathogenicrs72554636GRCh37Chr X, 77245343: 77245343
13ATP7ANM_ 000052.6(ATP7A): c.1355delT (p.Val452Glufs)deletionPathogenicrs797045329GRCh38Chr X, 77998496: 77998496
14ATP7ANM_ 000052.6(ATP7A): c.1460C> A (p.Ser487Ter)SNVPathogenicrs797045330GRCh38Chr X, 77998601: 77998601
15ATP7ANM_ 000052.6(ATP7A): c.1544-1G> ASNVPathogenicrs797045331GRCh38Chr X, 78003072: 78003072
16ATP7ANM_ 000052.6(ATP7A): c.1639C> T (p.Arg547Ter)SNVPathogenicrs797045332GRCh38Chr 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)SNVPathogenicrs797045336GRCh38Chr X, 78009176: 78009176
19ATP7ANM_ 000052.6(ATP7A): c.1831G> T (p.Glu611Ter)SNVPathogenicrs797045337GRCh38Chr X, 78009225: 78009225
20ATP7ANM_ 000052.6(ATP7A): c.1870-1G> CSNVPathogenicrs797045338GRCh38Chr X, 78011175: 78011175
21ATP7ANM_ 000052.6(ATP7A): c.1874T> G (p.Leu625Ter)SNVPathogenicrs797045339GRCh38Chr X, 78011180: 78011180
22ATP7ANM_ 000052.6(ATP7A): c.1885G> C (p.Ala629Pro)SNVLikely pathogenicrs72554639GRCh38Chr X, 78011191: 78011191
23ATP7ANM_ 000052.6(ATP7A): c.1933C> T (p.Arg645Ter)SNVPathogenicrs72554640GRCh38Chr X, 78011239: 78011239
24ATP7ANM_ 000052.6(ATP7A): c.1946+1G> CSNVPathogenicrs797045340GRCh37Chr X, 77266750: 77266750
25ATP7ANM_ 000052.6(ATP7A): c.1946+5G> ASNVPathogenicrs797045341GRCh37Chr X, 77266754: 77266754
26ATP7ANM_ 000052.6(ATP7A): c.1947-1G> CSNVPathogenicrs794729231GRCh37Chr X, 77266945: 77266945
27ATP7ANM_ 000052.6(ATP7A): c.1950G> A (p.Trp650Ter)SNVPathogenicrs797045342GRCh37Chr 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)SNVLikely pathogenicrs797045344GRCh38Chr X, 78011498: 78011498
30ATP7ANM_ 000052.6(ATP7A): c.1996G> C (p.Gly666Arg)SNVPathogenicrs797045344GRCh38Chr X, 78011498: 78011498
31ATP7ANM_ 000052.6(ATP7A): c.2160T> A (p.Cys720Ter)SNVPathogenicrs797045346GRCh38Chr X, 78011662: 78011662
32ATP7ANM_ 000052.6(ATP7A): c.2172+5G> CSNVPathogenicrs797045347GRCh38Chr X, 78011679: 78011679
33ATP7ANM_ 000052.6(ATP7A): c.2172G> T (p.Gln724His)SNVLikely pathogenicrs797045348GRCh37Chr X, 77267171: 77267171
34ATP7ANM_ 000052.6(ATP7A): c.2173-2A> GSNVPathogenicrs797045349GRCh37Chr X, 77268374: 77268374
35ATP7ANM_ 000052.6(ATP7A): c.2179G> A (p.Gly727Arg)SNVPathogenicrs72554644GRCh37Chr X, 77268382: 77268382
36ATP7ANM_ 000052.6(ATP7A): c.2179G> T (p.Gly727Ter)SNVPathogenicrs72554644GRCh38Chr X, 78012885: 78012885
37ATP7ANM_ 000052.6(ATP7A): c.2183G> A (p.Gly728Asp)SNVLikely pathogenicrs797045350GRCh37Chr X, 77268386: 77268386
38ATP7ANM_ 000052.6(ATP7A): c.2187G> A (p.Trp729Ter)SNVPathogenicrs797045351GRCh37Chr 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)SNVPathogenicrs797045354GRCh38Chr X, 78013063: 78013063
42ATP7ANM_ 000052.6(ATP7A): c.2383C> T (p.Arg795Ter)SNVPathogenicrs72554645GRCh38Chr 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> ASNVPathogenicrs797045357GRCh38Chr X, 78014755: 78014755
46ATP7ANM_ 000052.6(ATP7A): c.2499-1_ 2504dupGTGAAGAduplicationPathogenicrs797045358GRCh37Chr X, 77271250: 77271256
47ATP7ANM_ 000052.6(ATP7A): c.2499-1G> ASNVPathogenicrs797045359GRCh38Chr X, 78015753: 78015753
48ATP7ANM_ 000052.6(ATP7A): c.2555C> T (p.Pro852Leu)SNVPathogenicrs797045360GRCh38Chr X, 78015810: 78015810
49ATP7ANM_ 000052.6(ATP7A): c.2645dupC (p.Lys883Terfs)duplicationPathogenicrs797045361GRCh38Chr X, 78020262: 78020262
50ATP7ANM_ 000052.6(ATP7A): c.2750T> A (p.Val917Asp)SNVLikely pathogenicrs797045362GRCh37Chr X, 77275864: 77275864
51ATP7ANM_ 000052.6(ATP7A): c.2781G> C (p.Lys927Asn)SNVLikely pathogenicrs797045363GRCh38Chr X, 78020398: 78020398
52ATP7ANM_ 000052.6(ATP7A): c.2903A> G (p.Glu968Gly)SNVLikely 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)SNVPathogenicrs72554650GRCh38Chr X, 78029289: 78029289
55ATP7ANM_ 000052.6(ATP7A): c.3002C> T (p.Pro1001Leu)SNVLikely 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> ASNVPathogenicrs797045367GRCh38Chr 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)SNVPathogenicrs797045370GRCh38Chr X, 78031420: 78031420
61ATP7ANM_ 000052.6(ATP7A): c.3152_ 3156delACGGAins4indelPathogenicrs797045371GRCh38Chr X, 78031440: 78031444
62ATP7ANM_ 000052.6(ATP7A): c.3285T> G (p.Tyr1095Ter)SNVPathogenicrs797045372GRCh37Chr X, 77287071: 77287071
63ATP7ANM_ 000052.6(ATP7A): c.3288C> A (p.Cys1096Ter)SNVPathogenicrs797045373GRCh38Chr X, 78031576: 78031576
64ATP7ANM_ 000052.6(ATP7A): c.3294+1G> TSNVLikely 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)SNVLikely pathogenicrs797045376GRCh37Chr X, 77289160: 77289160
67ATP7ANM_ 000052.6(ATP7A): c.3379G> T (p.Glu1127Ter)SNVPathogenicrs797045377GRCh38Chr X, 78033689: 78033689
68ATP7ANM_ 000052.6(ATP7A): c.3466C> T (p.Gln1156Ter)SNVPathogenicrs797045378GRCh37Chr X, 77289274: 77289274
69ATP7ANM_ 000052.6(ATP7A): c.3502C> T (p.Gln1168Ter)SNVPathogenicrs797045379GRCh37Chr X, 77289310: 77289310
70ATP7ANM_ 000052.6(ATP7A): c.3537delA (p.Val1180Serfs)deletionPathogenicrs797045380GRCh38Chr X, 78038861: 78038861
71ATP7ANM_ 000052.6(ATP7A): c.3764G> A (p.Gly1255Glu)SNVPathogenicrs797045382GRCh38Chr 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)SNVLikely pathogenicrs797045385GRCh37Chr X, 77296230: 77296230
75ATP7ANM_ 000052.6(ATP7A): c.3801+1G> TSNVPathogenicrs797045386GRCh37Chr X, 77296232: 77296232
76ATP7ANM_ 000052.6(ATP7A): c.3801+4A> GSNVLikely pathogenicrs797045387GRCh38Chr X, 78040737: 78040737
77ATP7ANM_ 000052.6(ATP7A): c.3920C> G (p.Pro1307Arg)SNVPathogenicrs797045388GRCh38Chr X, 78042703: 78042703
78ATP7ANM_ 000052.6(ATP7A): c.3920delC (p.Pro1307Glnfs)deletionPathogenicrs797045389GRCh37Chr X, 77298201: 77298201
79ATP7ANM_ 000052.6(ATP7A): c.3943G> A (p.Gly1315Arg)SNVPathogenicrs797045390GRCh37Chr X, 77298224: 77298224
80ATP7ANM_ 000052.6(ATP7A): c.4005+1G> TSNVPathogenicrs797045391GRCh38Chr X, 78042789: 78042789
81ATP7ANM_ 000052.6(ATP7A): c.4014_ 4016delTCT (p.Leu1339del)deletionPathogenicrs797045392GRCh37Chr X, 77298823: 77298825
82ATP7ANM_ 000052.6(ATP7A): c.4123+1G> ASNVPathogenicrs797045393GRCh38Chr X, 78043435: 78043435
83ATP7ANM_ 000052.6(ATP7A): c.4123G> A (p.Gly1375Arg)SNVLikely 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)SNVLikely pathogenicrs797045396GRCh38Chr X, 78045533: 78045533
86ATP7ANM_ 000052.6(ATP7A): c.421_ 422delGA (p.Glu141Alafs)deletionPathogenicrs797045397GRCh37Chr X, 77244038: 77244039
87ATP7ANM_ 000052.6(ATP7A): c.4226+5G> ASNVPathogenicrs797045398GRCh38Chr X, 78045577: 78045577
88ATP7ANM_ 000052.6(ATP7A): c.598C> T (p.Gln200Ter)SNVPathogenicrs797045399GRCh38Chr X, 77988719: 77988719
89ATP7ANM_ 000052.6(ATP7A): c.876delG (p.Ser293Glnfs)deletionPathogenicrs797045400GRCh37Chr X, 77244994: 77244994
90ATP7ANM_ 000052.6(ATP7A): c.1974_ 1977dupGTTT (p.Phe660Valfs)duplicationPathogenicrs886044769GRCh37Chr X, 77266973: 77266976
91ATP7ANM_ 000052.6(ATP7A): c.2694delG (p.Ser899Hisfs)deletionPathogenicrs886044881GRCh37Chr X, 77275808: 77275808

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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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
1trans-Golgi networkGO:00058029.3ATP7A, ATP7B, PAM
2extracellular spaceGO:00056158.9CP, DBH, LOX, PAM, PGK1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1ATP hydrolysis coupled cation transmembrane transportGO:009913210.6ATP7A, ATP7B
2copper ion exportGO:006000310.6ATP7A, ATP7B
3copper ion importGO:001567710.6ATP7A, ATP7B
4blood vessel remodelingGO:000197410.5ATP7A, DBH
5collagen fibril organizationGO:003019910.5ATP7A, LOX
6elastic fiber assemblyGO:004825110.5ATP7A, LOX
7gluconeogenesisGO:000609410.3PGAM4, PGK1
8glycolytic processGO:000609610.3PGAM4, PGK1
9antimicrobial humoral responseGO:001973010.1ATOX1, ATP7A
10copper ion transmembrane transportGO:003543410.1ATOX1, ATP7B
11intracellular copper ion transportGO:001568010.1ATOX1, ATP7B
12lactationGO:000759510.0ATP7A, ATP7B, PAM
13extracellular matrix organizationGO:00301989.8ATP7A, ELN, LOX
14cellular copper ion homeostasisGO:00068789.8ATOX1, ATP7A, ATP7B
15metal ion transportGO:00300019.7ATOX1, ATP7A, ATP7B
16copper ion transportGO:00068259.4ATOX1, ATP7A, ATP7B, CP
17ion transportGO:00068119.4ATOX1, ATP7A, ATP7B, CP
18response to copper ionGO:00466889.3ATP7A, ATP7B, PAM
19oxidation-reduction processGO:00551149.1CP, DBH, LOX, PAM

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cation-transporting ATPase activityGO:001982910.6ATP7A, ATP7B
2copper-exporting ATPase activityGO:000400810.6ATP7A, ATP7B
3L-ascorbic acid bindingGO:003141810.3DBH, PAM
4monooxygenase activityGO:000449710.2DBH, PAM
5copper-dependent protein bindingGO:003276710.1ATOX1, ATP7A
6copper ion transmembrane transporter activityGO:00053759.8ATOX1, ATP7A, ATP7B
7oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygenGO:00167159.5DBH, PAM
8oxidoreductase activityGO:00164918.8CP, DBH, LOX, PAM
9copper ion bindingGO:00055078.1ATOX1, ATP7A, ATP7B, CP, DBH, LOX
10metal ion bindingGO:00468728.0ATOX1, ATP7A, ATP7B, CP, DBH, LOX

Sources for Menkes Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet