MCID: MNK001
MIFTS: 63

Menkes Disease

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

Aliases & Classifications for Menkes Disease

MalaCards integrated aliases for Menkes Disease:

Name: Menkes Disease 54 12 72 50 24 25 51 56 71 13 52 14
Menkes Syndrome 50 25 56 71
Mnk 24 25 56 71
Menkes Kinky Hair Syndrome 24 42 69
Copper Transport Disease 12 50 25
Steely Hair Syndrome 12 25 56
Steely Hair Disease 50 56 71
Kinky Hair Disease 50 56 71
Menkes Kinky-Hair Syndrome 12 29
X-Linked Copper Deficiency 25 56
Trichopoliodystrophy 24 56
Kinky Hair Syndrome 25 56
Menkea Syndrome 50 25
Mk 25 56
Md 56 3
Copper Transport Disorders 29
Menkes Kinky Hair Disease 24
Hypocupremia, Congenital 25
Steely Hair Diesase 24
Mnkd 71

Characteristics:

Orphanet epidemiological data:

56
menkes disease
Inheritance: X-linked recessive; Age of onset: Neonatal; Age of death: early childhood;

OMIM:

54
Inheritance:
x-linked recessive

Miscellaneous:
classic severe form shows onset at 2 to 3 months of age
early death (usually by 3 years of age)
a milder form has also been reported
female carriers may have subtle manifestations
incidence ranges from 1 in 40,000 to 1 in 350,000 births


HPO:

32
menkes disease:
Mortality/Aging death in childhood
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Menkes Disease

NINDS : 51 Menkes disease is caused by a defective gene named ATPTA1 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 syndrome, is related to atp7a-related copper transport disorders and acquired kinky hair syndrome, and has symptoms including chorea, umbilical hernia and spasticity. An important gene associated with Menkes Disease is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are HIF-1-alpha transcription factor network and Detoxification of Reactive Oxygen Species. The drugs Copper and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are cardiovascular system and homeostasis/metabolism

NIH Rare Diseases : 50 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. some additional signs and symptoms may include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. children with menkes syndrome typically begin to develop very severe symptoms during infancy, but, in some cases, the symptoms may begin later in childhood. 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 improve the prognosis in some children with this disease. last updated: 7/4/2017

UniProtKB/Swiss-Prot : 71 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 : 3 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.

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.

OMIM : 54
Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes. De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Menkes disease. (309400)

Wikipedia : 72 Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder that affects... more...

Related Diseases for Menkes Disease

Diseases related to Menkes Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
id Related Disease Score Top Affiliating Genes
1 atp7a-related copper transport disorders 12.3
2 acquired kinky hair syndrome 12.0
3 occipital horn syndrome 11.3
4 mckusick-kaufman syndrome 11.1
5 pili torti 11.1
6 meckel syndrome 1 11.0
7 woolly hair syndrome 10.9
8 meckel syndrome 7 10.9
9 muenke syndrome 10.8
10 pili torti, early-onset 10.8
11 spastic paraplegia 50, autosomal recessive 10.4 ATP7A ATP7B
12 congenital structural myopathy 10.1 ATP7A ATP7B
13 wilson disease 10.1
14 olecranon bursitis 10.1 ELN LOX
15 epilepsy 10.0
16 microphthalmia, syndromic 9 10.0 ELN LOX
17 atrial fibrillation and stroke 10.0 ELN LOX
18 ectodermal dysplasia 1, hypohidrotic, x-linked 10.0 ATP7A DBH LOX
19 microcytic anemia 10.0
20 hiatus hernia 9.9
21 leukemia 9.9
22 narcolepsy 9.9 ATP7A ATP7B COMMD1
23 choroiditis 9.8
24 aneurysm 9.8
25 hair disease 9.8
26 lymphoblastic leukemia 9.8
27 strongyloidiasis 9.7 ELN LOX
28 nephrocalcinosis 9.6
29 intestinal obstruction 9.6
30 albinism 9.6
31 hepatitis 9.6
32 oculocutaneous albinism 9.6
33 lateral sclerosis 9.6
34 x-linked disease 9.6
35 cervicitis 9.6
36 inguinal hernia 9.6
37 cutis laxa 9.6
38 leukodystrophy 9.6
39 cerebritis 9.6
40 shaken baby syndrome 9.6
41 gastroesophageal reflux 9.6
42 retinitis 9.6
43 pulmonary artery hypoplasia 9.6
44 swayback 9.6
45 autoimmune hemolytic anemia 9.6
46 neuronitis 9.6
47 hemolytic anemia 9.6
48 squamous cell carcinoma 9.6
49 essential thrombocythemia 9.6
50 acute non lymphoblastic leukemia 9.6

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



Diseases related to Menkes Disease

Symptoms & Phenotypes for Menkes Disease

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Head:
microcephaly
wormian bones
brachycephaly

Skeletal- Skull:
wormian bones

Skin Nails & Hair- Skin:
hypopigmentation
skin laxity

Head And Neck- Face:
pudgy cheeks

Skin Nails & Hair- Hair:
steely, kinky, sparse hair
twisted and partial breaks on magnification

Neurologic- Central Nervous System:
mental retardation
seizures
hypertonia
hypothermia
intracranial hemorrhage
more
Skeletal:
joint laxity
osteoporosis

Growth- Other:
intrauterine growth retardation

Cardiovascular- Vascular:
intracranial hemorrhage

Skeletal- Limbs:
metaphyseal widening with spurs

Laboratory- Abnormalities:
low copper and ceruloplasmin


Clinical features from OMIM:

309400

Human phenotypes related to Menkes Disease:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002072
2 umbilical hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001537
3 spasticity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001257
4 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 hypertonia 56 32 Very frequent (99-80%) HP:0001276
6 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
7 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
8 wormian bones 56 32 frequent (33%) Frequent (79-30%) HP:0002645
9 sparse hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0008070
10 intrauterine growth retardation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001511
11 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
12 osteoporosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000939
13 muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0001324
14 narrow chest 56 32 frequent (33%) Frequent (79-30%) HP:0000774
15 inguinal hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000023
16 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
17 hypoglycemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001943
18 pectus excavatum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000767
19 full cheeks 56 32 frequent (33%) Frequent (79-30%) HP:0000293
20 recurrent fractures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002757
21 osteomyelitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002754
22 dry skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000958
23 malabsorption 56 32 frequent (33%) Frequent (79-30%) HP:0002024
24 joint hyperflexibility 56 32 hallmark (90%) Very frequent (99-80%) HP:0005692
25 prominent occiput 56 32 frequent (33%) Frequent (79-30%) HP:0000269
26 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
27 feeding difficulties in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008872
28 hypothermia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002045
29 developmental regression 56 32 hallmark (90%) Very frequent (99-80%) HP:0002376
30 tarsal synostosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008368
31 woolly hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002224
32 hyperextensible skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000974
33 intracranial hemorrhage 56 32 hallmark (90%) Very frequent (99-80%) HP:0002170
34 sepsis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100806
35 prolonged neonatal jaundice 56 32 frequent (33%) Frequent (79-30%) HP:0006579
36 mask-like facies 56 32 frequent (33%) Frequent (79-30%) HP:0000298
37 bowing of the long bones 56 32 occasional (7.5%) Occasional (29-5%) HP:0006487
38 spontaneous hematomas 56 32 occasional (7.5%) Occasional (29-5%) HP:0007420
39 thickened skin 56 32 frequent (33%) Frequent (79-30%) HP:0001072
40 chondrocalcinosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000934
41 exostoses 56 32 frequent (33%) Frequent (79-30%) HP:0100777
42 gastrointestinal hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002239
43 nausea and vomiting 56 32 frequent (33%) Frequent (79-30%) HP:0002017
44 behavioral abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0000708
45 aplasia/hypoplasia of the abdominal wall musculature 56 32 hallmark (90%) Very frequent (99-80%) HP:0010318
46 atypical scarring of skin 56 32 frequent (33%) Frequent (79-30%) HP:0000987
47 hypopigmentation of hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0005599
48 bladder diverticulum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000015
49 abnormality of the carotid arteries 56 32 frequent (33%) Frequent (79-30%) HP:0005344
50 arterial stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0100545

UMLS symptoms related to Menkes Disease:


seizures, joint laxity

MGI Mouse Phenotypes related to Menkes Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ATOX1 ATP7A COMMD1 CP DBH LOX
2 homeostasis/metabolism MP:0005376 9.76 ATOX1 ATP7A ATP7B COMMD1 CP DBH
3 liver/biliary system MP:0005370 9.35 ATOX1 ATP7A ATP7B COMMD1 CP
4 pigmentation MP:0001186 8.92 ATOX1 ATP7A ATP7B CP

Drugs & Therapeutics for Menkes Disease

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Copper Approved Phase 3,Phase 1,Phase 2 7440-50-8 27099
2 Micronutrients Phase 3,Phase 1,Phase 2
3 Trace Elements Phase 3,Phase 1,Phase 2
4 histidine Nutraceutical Phase 3,Phase 1,Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Recruiting NCT00811785 Phase 3 Copper Histidine
2 Copper Histidine Therapy for Menkes Diseases Completed NCT00001262 Phase 1, Phase 2 Copper Histidine

Search NIH Clinical Center for Menkes Disease

Cochrane evidence based reviews: menkes kinky hair syndrome

Genetic Tests for Menkes Disease

Genetic tests related to Menkes Disease:

id Genetic test Affiliating Genes
1 Menkes Kinky-Hair Syndrome 29
2 Copper Transport Disorders 29
3 Menkes Disease 24 ATP7A

Anatomical Context for Menkes Disease

MalaCards organs/tissues related to Menkes Disease:

39
Skin, Bone, Brain, Liver, Kidney, Eye, Temporal Lobe

Publications for Menkes Disease

Articles related to Menkes Disease:

(show top 50) (show all 350)
id Title Authors Year
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
A 37-years-old Menkes disease patient - Residual ATP7A activity and early copper administration as key factors in beneficial treatment. ( 28657131 )
2017
5
Menkes disease and response to copper histidine: An Indian case series. ( 28298846 )
2017
6
Management of hyperplastic gastric polyp following upper gastrointestinal bleeding in infant with Menkes' disease. ( 28744347 )
2017
7
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. ( 28389643 )
2017
8
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease. ( 28397151 )
2017
9
Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report. ( 27631241 )
2016
10
Reply to the letter: "Neonatal screening for Menkes disease using urine HVA/VMA ratio". ( 27093925 )
2016
11
Neonatal screening for Menkes disease using urine HVA/VMA ratio. ( 27189264 )
2016
12
The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria. ( 27226607 )
2016
13
Menkes disease: what a multidisciplinary approach can do. ( 27574440 )
2016
14
Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis. ( 27629586 )
2016
15
Unusual skin manifestations in a patient with menkes disease. ( 27748070 )
2016
16
Menkes disease with discordant phenotype in female monozygotic twins. ( 26239182 )
2015
17
Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease. ( 25583185 )
2015
18
Mottled Mice and Non-Mammalian Models of Menkes Disease. ( 26732058 )
2015
19
Is It a Pathogenic ATP7A Variation and Is It Menkes Disease? ( 26137332 )
2015
20
Menkes disease: importance of diagnosis with molecular analysis in the neonatal period. ( 26603002 )
2015
21
Development of a therapeutic agent for menkes disease: solubilization of a copper-disulfiram complex. ( 25759057 )
2015
22
Autonomous requirements of the Menkes disease protein in the nervous system. ( 26269458 )
2015
23
Menkes disease in affected females: the clinical disease spectrum. ( 25428120 )
2015
24
Editorial Focus on "Autonomous requirements of the Menkes disease protein in the nervous system". ( 26468209 )
2015
25
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells. ( 26347346 )
2015
26
Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype. ( 25638460 )
2015
27
Epilepsy in children with menkes disease: a systematic review of literature. ( 25038123 )
2014
28
Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease. ( 24556394 )
2014
29
Insight into the gas-phase structure of a copper(II) L-histidine complex, the agent used to treat Menkes disease. ( 24528202 )
2014
30
Copper mediated neurological disorder: Visions into amyotrophic lateral sclerosis, Alzheimer and Menkes disease. ( 24975171 )
2014
31
Acute posterior fossa epidural hematoma in a newborn infant with Menkes disease. ( 24488163 )
2014
32
Modeling of Menkes disease via human induced pluripotent stem cells. ( 24468087 )
2014
33
Role of optic microscopy for early diagnosis of Menkes disease. ( 25329126 )
2014
34
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease. ( 25771438 )
2014
35
Imaging features that allow for the recognition of Menkes disease. ( 24863520 )
2014
36
Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients. ( 25218893 )
2014
37
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
38
Menkes disease - An important cause of early onset refractory seizures. ( 24891895 )
2014
39
Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice - an animal model of Menkes disease. ( 25247420 )
2014
40
Determination of the serum metallothionein (MT)1/2 concentration in patients with Wilson's disease and Menkes disease. ( 25172214 )
2014
41
A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease. ( 24630286 )
2014
42
[Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk]. ( 24927440 )
2014
43
Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment. ( 25281031 )
2014
44
Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease. ( 24449426 )
2014
45
Changes in body weight and height in survivors of Menkes disease. ( 25150085 )
2014
46
Menkes disease in Korea: ATP7A mutation and epilepsy phenotype. ( 24882692 )
2014
47
Menkes disease presenting with epilepsia partialis continua. ( 25506448 )
2014
48
Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model. ( 25456742 )
2014
49
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients. ( 24919650 )
2014
50
PET imaging analysis with 64Cu in disulfiram treatment for aberrant copper biodistribution in Menkes disease mouse model. ( 24627433 )
2014

Variations for Menkes Disease

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

71 (show all 33)
id Symbol AA change Variation ID SNP ID
1 ATP7A p.Ala629Pro VAR_000699
2 ATP7A p.Gly727Arg VAR_000700
3 ATP7A p.Leu1006Pro VAR_000701
4 ATP7A p.Gly1019Asp VAR_000702
5 ATP7A p.Leu873Arg VAR_010001
6 ATP7A p.Gly876Glu VAR_010002
7 ATP7A p.Cys1000Arg VAR_010003
8 ATP7A p.Gly1300Glu VAR_010004
9 ATP7A p.Gly1302Arg VAR_010005
10 ATP7A p.Gly1302Val VAR_010006
11 ATP7A p.Asp1305Ala VAR_010007
12 ATP7A p.Ala1362Val VAR_010008
13 ATP7A p.Leu706Arg VAR_023261
14 ATP7A p.Arg844His VAR_023262
15 ATP7A p.Gly853Arg VAR_023263
16 ATP7A p.Gly860Val VAR_023264
17 ATP7A p.Gly876Arg VAR_023265
18 ATP7A p.Gln924Arg VAR_023266
19 ATP7A p.Ala1007Val VAR_023267
20 ATP7A p.Gly1015Asp VAR_023268
21 ATP7A p.Asp1044Gly VAR_023269
22 ATP7A p.Leu1100Pro VAR_023270
23 ATP7A p.Gly1118Asp VAR_023271
24 ATP7A p.Gly1255Arg VAR_023272
25 ATP7A p.Lys1282Glu VAR_023273
26 ATP7A p.Asn1304Lys VAR_023274
27 ATP7A p.Gly1315Arg VAR_023275
28 ATP7A p.Ala1325Val VAR_023276
29 ATP7A p.Ser1344Arg VAR_023277
30 ATP7A p.Ile1345Phe VAR_023278
31 ATP7A p.Gly1369Arg VAR_023279
32 ATP7A p.Ser1397Phe VAR_023280
33 ATP7A p.Thr1048Ile VAR_068831

ClinVar genetic disease variations for Menkes Disease:

6 (show top 50) (show all 92)
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP7A NM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu) single nucleotide variant Pathogenic rs151340631 GRCh37 Chromosome X, 77266713: 77266713
2 ATP7A NM_000052.6(ATP7A): c.2938C> T (p.Arg980Ter) single nucleotide variant Pathogenic rs72554649 GRCh37 Chromosome X, 77284768: 77284768
3 ATP7A ATP7A, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
4 ATP7A NM_000052.6(ATP7A): c.3056G> A (p.Gly1019Asp) single nucleotide variant Pathogenic rs72554652 GRCh37 Chromosome X, 77284886: 77284886
5 ATP7A ATP7A, 8-BP DEL, NT408 deletion Pathogenic
6 ATP7A ATP7A, EX3-4 DEL deletion Pathogenic
7 ATP7A NM_000052.6(ATP7A): c.3911A> G (p.Asn1304Ser) single nucleotide variant Pathogenic rs151340632 GRCh37 Chromosome X, 77298192: 77298192
8 ATP7A NM_000052.6(ATP7A): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs151340633 GRCh37 Chromosome X, 77244218: 77244218
9 ATP7A NM_000052.6(ATP7A): c.1947-1G> A single nucleotide variant Pathogenic rs794729231 GRCh37 Chromosome X, 77266945: 77266945
10 ATP7A NM_000052.6(ATP7A): c.421_422delGA (p.Glu141Alafs) deletion Pathogenic rs797045397 GRCh37 Chromosome X, 77244038: 77244039
11 ATP7A NM_000052.6(ATP7A): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs797045399 GRCh38 Chromosome X, 77988719: 77988719
12 ATP7A NM_000052.6(ATP7A): c.876delG (p.Ser293Glnfs) deletion Pathogenic rs797045400 GRCh37 Chromosome X, 77244994: 77244994
13 ATP7A NM_000052.6(ATP7A): c.1006G> T (p.Glu336Ter) single nucleotide variant Pathogenic rs797045325 GRCh38 Chromosome X, 77989628: 77989628
14 ATP7A NM_000052.6(ATP7A): c.1020_1024dupGGGGC (p.Leu342Argfs) duplication Pathogenic rs797045327 GRCh38 Chromosome X, 77989642: 77989646
15 ATP7A NM_000052.6(ATP7A): c.1225C> T (p.Arg409Ter) single nucleotide variant Pathogenic rs72554636 GRCh37 Chromosome X, 77245343: 77245343
16 ATP7A NM_000052.6(ATP7A): c.1355delT (p.Val452Glufs) deletion Pathogenic rs797045329 GRCh38 Chromosome X, 77998496: 77998496
17 ATP7A NM_000052.6(ATP7A): c.1460C> A (p.Ser487Ter) single nucleotide variant Pathogenic rs797045330 GRCh38 Chromosome X, 77998601: 77998601
18 ATP7A NM_000052.6(ATP7A): c.1544-1G> A single nucleotide variant Pathogenic rs797045331 GRCh38 Chromosome X, 78003072: 78003072
19 ATP7A NM_000052.6(ATP7A): c.1639C> T (p.Arg547Ter) single nucleotide variant Pathogenic rs797045332 GRCh38 Chromosome X, 78003168: 78003168
20 ATP7A NM_000052.6(ATP7A): c.1667_1668delTA (p.Ile556Argfs) deletion Pathogenic rs797045333 GRCh38 Chromosome X, 78003196: 78003197
21 ATP7A NM_000052.6(ATP7A): c.1782C> G (p.Tyr594Ter) single nucleotide variant Pathogenic rs797045336 GRCh38 Chromosome X, 78009176: 78009176
22 ATP7A NM_000052.6(ATP7A): c.1831G> T (p.Glu611Ter) single nucleotide variant Pathogenic rs797045337 GRCh38 Chromosome X, 78009225: 78009225
23 ATP7A NM_000052.6(ATP7A): c.1870-1G> C single nucleotide variant Pathogenic rs797045338 GRCh38 Chromosome X, 78011175: 78011175
24 ATP7A NM_000052.6(ATP7A): c.1874T> G (p.Leu625Ter) single nucleotide variant Pathogenic rs797045339 GRCh38 Chromosome X, 78011180: 78011180
25 ATP7A NM_000052.6(ATP7A): c.1885G> C (p.Ala629Pro) single nucleotide variant Likely pathogenic rs72554639 GRCh38 Chromosome X, 78011191: 78011191
26 ATP7A NM_000052.6(ATP7A): c.1933C> T (p.Arg645Ter) single nucleotide variant Pathogenic rs72554640 GRCh38 Chromosome X, 78011239: 78011239
27 ATP7A NM_000052.6(ATP7A): c.1946+1G> C single nucleotide variant Pathogenic rs797045340 GRCh37 Chromosome X, 77266750: 77266750
28 ATP7A NM_000052.6(ATP7A): c.1946+5G> A single nucleotide variant Pathogenic rs797045341 GRCh37 Chromosome X, 77266754: 77266754
29 ATP7A NM_000052.6(ATP7A): c.1947-1G> C single nucleotide variant Pathogenic rs794729231 GRCh37 Chromosome X, 77266945: 77266945
30 ATP7A NM_000052.6(ATP7A): c.1950G> A (p.Trp650Ter) single nucleotide variant Pathogenic rs797045342 GRCh37 Chromosome X, 77266949: 77266949
31 ATP7A NM_000052.6(ATP7A): c.1978_2008dup31 (p.Tyr670Phefs) duplication Pathogenic rs797045343 GRCh38 Chromosome X, 78011480: 78011510
32 ATP7A NM_000052.6(ATP7A): c.1996G> A (p.Gly666Arg) single nucleotide variant Likely pathogenic rs797045344 GRCh38 Chromosome X, 78011498: 78011498
33 ATP7A NM_000052.6(ATP7A): c.1996G> C (p.Gly666Arg) single nucleotide variant Pathogenic rs797045344 GRCh38 Chromosome X, 78011498: 78011498
34 ATP7A NM_000052.6(ATP7A): c.2160T> A (p.Cys720Ter) single nucleotide variant Pathogenic rs797045346 GRCh38 Chromosome X, 78011662: 78011662
35 ATP7A NM_000052.6(ATP7A): c.2172G> T (p.Gln724His) single nucleotide variant Likely pathogenic rs797045348 GRCh37 Chromosome X, 77267171: 77267171
36 ATP7A NM_000052.6(ATP7A): c.2172+5G> C single nucleotide variant Pathogenic rs797045347 GRCh38 Chromosome X, 78011679: 78011679
37 ATP7A NM_000052.6(ATP7A): c.2173-2A> G single nucleotide variant Pathogenic rs797045349 GRCh37 Chromosome X, 77268374: 77268374
38 ATP7A NM_000052.6(ATP7A): c.2179G> A (p.Gly727Arg) single nucleotide variant Pathogenic rs72554644 GRCh37 Chromosome X, 77268382: 77268382
39 ATP7A NM_000052.6(ATP7A): c.2179G> T (p.Gly727Ter) single nucleotide variant Pathogenic rs72554644 GRCh38 Chromosome X, 78012885: 78012885
40 ATP7A NM_000052.6(ATP7A): c.2183G> A (p.Gly728Asp) single nucleotide variant Likely pathogenic rs797045350 GRCh37 Chromosome X, 77268386: 77268386
41 ATP7A NM_000052.6(ATP7A): c.2187G> A (p.Trp729Ter) single nucleotide variant Pathogenic rs797045351 GRCh37 Chromosome X, 77268390: 77268390
42 ATP7A NM_000052.6(ATP7A): c.2248_2251dupATTG (p.Val751Aspfs) duplication Pathogenic rs797045352 GRCh38 Chromosome X, 78012954: 78012957
43 ATP7A NM_000052.6(ATP7A): c.2302delG (p.Ala768Glnfs) deletion Pathogenic rs797045353 GRCh38 Chromosome X, 78013008: 78013008
44 ATP7A NM_000052.6(ATP7A): c.2357T> G (p.Met786Arg) single nucleotide variant Pathogenic rs797045354 GRCh38 Chromosome X, 78013063: 78013063
45 ATP7A NM_000052.6(ATP7A): c.2383C> T (p.Arg795Ter) single nucleotide variant Pathogenic rs72554645 GRCh38 Chromosome X, 78013089: 78013089
46 ATP7A NM_000052.6(ATP7A): c.2395_2405delCATATAGCAAAinsAGCATC (p.His799Serfs) indel Pathogenic rs797045355 GRCh38 Chromosome X, 78013101: 78013111
47 ATP7A NM_000052.6(ATP7A): c.2405_2406+1delinsT indel Pathogenic rs797045356 GRCh38 Chromosome X, 78013111: 78013113
48 ATP7A NM_000052.6(ATP7A): c.2498+2T> A single nucleotide variant Pathogenic rs797045357 GRCh38 Chromosome X, 78014755: 78014755
49 ATP7A NM_000052.6(ATP7A): c.2499-1G> A single nucleotide variant Pathogenic rs797045359 GRCh38 Chromosome X, 78015753: 78015753
50 ATP7A NM_000052.6(ATP7A): c.2499-1_2504dupGTGAAGA duplication Pathogenic rs797045358 GRCh37 Chromosome X, 77271250: 77271256

Expression for Menkes Disease

Search GEO for disease gene expression data for Menkes Disease.

Pathways for Menkes Disease

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

id Super pathways Score Top Affiliating Genes
1 11.13 CP PGK1
2
Show member pathways
11 ATOX1 ATP7A
3 10.86 ATOX1 ATP7A
4 10.66 ATOX1 ATP7A ATP7B COMMD1
5 10.42 ATP7A ATP7B

GO Terms for Menkes Disease

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

id Name GO ID Score Top Affiliating Genes
1 trans-Golgi network GO:0005802 8.8 ATP7A ATP7B PAM

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.86 CP DBH LOX PAM
2 ion transport GO:0006811 9.84 ATOX1 ATP7A ATP7B CP
3 extracellular matrix organization GO:0030198 9.67 ATP7A ELN LOX
4 antimicrobial humoral response GO:0019730 9.57 ATOX1 ATP7A
5 collagen fibril organization GO:0030199 9.55 ATP7A LOX
6 lactation GO:0007595 9.54 ATP7A ATP7B PAM
7 blood vessel remodeling GO:0001974 9.52 ATP7A DBH
8 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.51 ATP7A ATP7B
9 copper ion import GO:0015677 9.48 ATP7A ATP7B
10 elastic fiber assembly GO:0048251 9.46 ATP7A LOX
11 copper ion transmembrane transport GO:0035434 9.43 ATOX1 ATP7B
12 metal ion transport GO:0030001 9.43 ATOX1 ATP7A ATP7B
13 intracellular copper ion transport GO:0015680 9.4 ATOX1 ATP7B
14 response to copper ion GO:0046688 9.33 ATP7A ATP7B PAM
15 copper ion export GO:0060003 9.32 ATP7A ATP7B
16 cellular copper ion homeostasis GO:0006878 9.13 ATOX1 ATP7A ATP7B
17 copper ion transport GO:0006825 8.92 ATOX1 ATP7A ATP7B CP

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.76 CP DBH LOX PAM
2 monooxygenase activity GO:0004497 9.48 DBH PAM
3 L-ascorbic acid binding GO:0031418 9.43 DBH PAM
4 cation-transporting ATPase activity GO:0019829 9.37 ATP7A ATP7B
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen GO:0016715 9.32 DBH PAM
6 copper-dependent protein binding GO:0032767 9.26 ATOX1 ATP7A
7 copper ion binding GO:0005507 9.23 ATOX1 ATP7A ATP7B COMMD1 CP DBH
8 copper-exporting ATPase activity GO:0004008 9.16 ATP7A ATP7B
9 copper ion transmembrane transporter activity GO:0005375 9.13 ATOX1 ATP7A ATP7B
10 metal ion binding GO:0046872 10.01 ATOX1 ATP7A ATP7B COMMD1 CP DBH

Sources for Menkes Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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