MNK
MCID: MNK001
MIFTS: 64

Menkes Disease (MNK)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Menkes Disease

MalaCards integrated aliases for Menkes Disease:

Name: Menkes Disease 56 12 74 52 25 53 58 73 13 54 15 39
Menkes Syndrome 56 52 25 58 73 36
Copper Transport Disease 56 12 74 52 25
Steely Hair Disease 56 52 58 73
Kinky Hair Disease 56 52 58 73
Mnk 56 25 58 73
Menkes Kinky-Hair Syndrome 12 29 6
Steely Hair Syndrome 12 25 58
Mk 56 25 58
X-Linked Copper Deficiency 25 58
Menkes Kinky Hair Syndrome 43 71
Kinky Hair Syndrome 25 58
Menkea Syndrome 52 25
Md 58 3
Copper Transport Disorders 29
Hypocupremia, Congenital 25
Trichopoliodystrophy 58

Characteristics:

Orphanet epidemiological data:

58
menkes disease
Inheritance: X-linked recessive; Age of onset: Neonatal; Age of death: early childhood;

OMIM:

56
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:

31
menkes disease:
Inheritance x-linked recessive inheritance
Clinical modifier death in childhood


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Menkes Disease

NIH Rare Diseases : 52 Menkes disease (MD) is an inherited condition that impacts the way the body processes copper levels in the body. MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. Symptoms of MD usually appear within the first few months of life and include sparse, kinky hair; slow growth (failure to thrive); and seizures . Additional features may include low muscle tone (hypotonia ), sagging facial features, and developmental and intellectual disability . Most children with MD have severe symptoms that lead to death at an early age. Occipital horn syndrome is a less severe form of MD that begins in early to middle childhood. The adult-onset form is the least severe and primarily impacts the nerves and muscles. MD is caused by alterations (mutations ) in the ATP7A gene and is inherited in an X-linked recessive pattern . MD mainly affects boys. Early treatment with copper may improve the long-term outcome in some children with this disease.

MalaCards based summary : Menkes Disease, also known as menkes syndrome, is related to occipital horn syndrome and disorder of copper metabolism, and has symptoms including seizures An important gene associated with Menkes Disease is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are Metal ion SLC transporters and Mineral absorption. The drugs Copper and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are inguinal hernia and muscular hypotonia

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. Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.

OMIM : 56 Menkes disease (MNK) is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes. (309400)

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.

NINDS : 53 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.

KEGG : 36 Menkes disease (MD) is an X-linked recessive disorder of copper deficiency caused by mutation of a copper-transporting P-type ATPase, resulting in dysfunction of copper-dependent enzymes. The patients with classical MD have severe developmental and neurological impairments due to subnormal amount of copper in the brain and a variety of symptoms such as connective tissue abnormalities, tortuosity of blood vessels and peculiar hair. Most of the classical MD patients die before the age of 3 years.

UniProtKB/Swiss-Prot : 73 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 : 74 Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by... 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 296)
# Related Disease Score Top Affiliating Genes
1 occipital horn syndrome 32.1 PAM LOX ELN DBH CP ATP7B
2 disorder of copper metabolism 31.7 ATP7B ATP7A
3 cutis laxa 30.2 LOX ELN ATP7A
4 bladder diverticulum 30.1 LOX ELN DBH CP ATP7A
5 spinal muscular atrophy, distal, x-linked 3 29.7 PAM DBH CP ATP7B ATP7A ATOX1
6 wilson disease 29.6 SOD1 LOX DNAH8 DBH CP COMMD1
7 acquired kinky hair syndrome 12.4
8 meckel syndrome, type 1 12.2
9 mckusick-kaufman syndrome 11.6
10 pili torti 11.6
11 familial woolly hair syndrome 11.5
12 meckel syndrome, type 7 11.3
13 muenke syndrome 11.3
14 pili torti, early-onset 11.2
15 hypotonia 10.6
16 leukemia, acute myeloid 10.5
17 myeloid leukemia 10.5
18 hair disease 10.5
19 visual epilepsy 10.4
20 atp7a-related copper transport disorders 10.4
21 seizure disorder 10.4
22 west syndrome 10.3
23 congenital rubella 10.3
24 rare neurodegenerative disease 10.3
25 hereditary dystonia 10.3 DBH ATP7B
26 ureteric orifice cancer 10.3 LOX ELN
27 aneurysm 10.3
28 cerebral atrophy 10.3
29 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 PAM ATP7B ATP7A
30 epilepsy 10.2
31 thrombocytopenia 10.2
32 ciliopathy 10.2
33 mitochondrial complex iv deficiency 10.2
34 x-linked recessive disease 10.2
35 meningitis and encephalitis 10.2 SOD1 CP
36 status epilepticus 10.2
37 hypertension, essential 10.2
38 microcytic anemia 10.2
39 teratocarcinoma 10.2
40 embryonal carcinoma 10.2
41 leukemia, chronic myeloid 10.2
42 diffuse large b-cell lymphoma 10.2
43 glioblastoma multiforme 10.2
44 b-cell lymphoma 10.2
45 cytokine deficiency 10.2
46 glioma 10.2
47 glial tumor 10.2
48 bone resorption disease 10.1
49 nephronophthisis 10.1
50 depression 10.1

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



Diseases related to Menkes Disease

Symptoms & Phenotypes for Menkes Disease

Human phenotypes related to Menkes Disease:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000023
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
6 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
7 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
8 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
9 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
10 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
11 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
12 hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0005599
13 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
14 intracranial hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002170
15 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
16 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
17 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
18 woolly hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002224
19 seizure 31 hallmark (90%) HP:0001250
20 dilatation 31 hallmark (90%) HP:0002617
21 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
22 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
23 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
24 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
25 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
26 abnormality of the metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0000944
27 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
28 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
29 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
30 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
31 atypical scarring of skin 58 31 frequent (33%) Frequent (79-30%) HP:0000987
32 mask-like facies 58 31 frequent (33%) Frequent (79-30%) HP:0000298
33 arterial stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0100545
34 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
35 exostoses 58 31 frequent (33%) Frequent (79-30%) HP:0100777
36 venous insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0005293
37 wormian bones 58 31 frequent (33%) Frequent (79-30%) HP:0002645
38 prolonged neonatal jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0006579
39 abnormal carotid artery morphology 31 frequent (33%) HP:0005344
40 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
41 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
42 chondrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000934
43 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
44 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
45 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
46 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
47 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
48 bladder diverticulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000015
49 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
50 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
intracranial hemorrhage
hypothermia
hypotonia
mental retardation
more
Growth Height:
short stature

Growth Other:
intrauterine growth retardation

Skeletal Skull:
wormian bones

Head And Neck Face:
pudgy cheeks

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

Head And Neck Head:
microcephaly
brachycephaly
wormian bones

Skeletal:
osteoporosis
joint laxity

Cardiovascular Vascular:
intracranial hemorrhage

Skin Nails Hair Skin:
hypopigmentation
skin laxity

Skeletal Limbs:
metaphyseal widening with spurs

Laboratory Abnormalities:
low copper and ceruloplasmin

Clinical features from OMIM:

309400

UMLS symptoms related to Menkes Disease:


seizures

MGI Mouse Phenotypes related to Menkes Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 ADCYAP1 ATOX1 ATP7A ATP7B CCK COMMD1
2 cardiovascular system MP:0005385 9.96 ATOX1 ATP7A COMMD1 CP DBH IGF2R
3 liver/biliary system MP:0005370 9.61 ADCYAP1 ATOX1 ATP7A ATP7B COMMD1 CP
4 nervous system MP:0003631 9.4 ADCYAP1 ATOX1 ATP7A ATP7B CCK COMMD1

Drugs & Therapeutics for Menkes Disease

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Copper Approved, Investigational Phase 3 7440-50-8 27099
2 Trace Elements Phase 3
3 Copper Supplement Phase 3
4 Nutrients Phase 3
5 Micronutrients Phase 3
6
Histidine Investigational, Nutraceutical Phase 3 71-00-1 6274

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Active, not recruiting NCT00811785 Phase 3 Copper Histidine
2 Early Copper Histidine Therapy in Menkes Disease Completed NCT00001262 Phase 1, Phase 2 Copper Histidine
3 A Single-Arm Phase II Clinical Trial With the Novel MEK Inhibitor AZD-6244 for the Treatment of MCT-1 Related Relapsed or Refractory Diffuse Large B-Cell Lymphoma Terminated NCT01278615 Phase 2 Selumetinib
4 Copper Histidinate Treatment for Menkes Disease Available NCT04074512 Copper Histidinate
5 Long Term Follow-Up and Collection of Historical Control Data on Menkes Disease Patients Enrolling by invitation NCT04337684 Long Term Follow-Up

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:

# Genetic test Affiliating Genes
1 Menkes Kinky-Hair Syndrome 29 ATP7A
2 Copper Transport Disorders 29

Anatomical Context for Menkes Disease

MalaCards organs/tissues related to Menkes Disease:

40
Bone, Skin, Brain, Liver, Kidney, Testes, B Cells

Publications for Menkes Disease

Articles related to Menkes Disease:

(show top 50) (show all 901)
# Title Authors PMID Year
1
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. 61 6 56 54
14635105 2003
2
Lethal neonatal Menkes' disease with severe vasculopathy and fractures. 6 56 61
9894833 1998
3
Early development of occipital horns in a classical Menkes patient. 56 6
15372525 2004
4
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. 54 61 6
19194885 2009
5
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. 61 56 54
17717039 2007
6
A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation. 61 6 54
12221109 2002
7
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. 61 54 6
10739752 2000
8
The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal. 61 54 56
10484781 1999
9
Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1). 56 54 61
9668172 1998
10
Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. 54 56 61
9215672 1997
11
Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. 61 54 56
8947031 1996
12
A murine model of Menkes disease reveals a physiological function of metallothionein. 61 56 54
8640230 1996
13
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. 61 56 54
7842019 1994
14
Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice. 54 61 56
7959788 1994
15
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. 61 54 56
8490659 1993
16
Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. 56 61 54
2035533 1991
17
Menkes disease in affected females: the clinical disease spectrum. 56 61
25428120 2015
18
Clinical utility gene card for: Menkes disease. 61 6
21487442 2011
19
Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. 6 61
16826513 2006
20
Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy? 61 56
16630173 2006
21
ATP7A-Related Copper Transport Disorders 6 61
20301586 2003
22
Pamidronate treatment improves bone mineral density in children with Menkes disease. 61 56
12408189 2002
23
Clinical expression of Menkes disease in a girl with X;13 translocation. 61 56
10588844 1999
24
Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease. 56 61
9788559 1998
25
A Golgi localization signal identified in the Menkes recombinant protein. 61 56
9668166 1998
26
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. 61 56
9511979 1998
27
Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. 56 61
9321757 1997
28
Menkes disease: recent advances and new aspects. 61 56
9138147 1997
29
Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. 61 56
8914740 1996
30
Early copper-histidine treatment for Menkes disease. 56 61
8528242 1996
31
First trimester prenatal diagnosis of Menkes disease by DNA analysis. 56 61
7815418 1994
32
Copper-histidine therapy for Menkes disease. 56 61
8229500 1993
33
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. 56 61
8099605 1993
34
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. 61 56
8490646 1993
35
Isolation of a partial candidate gene for Menkes disease by positional cloning. 61 56
8490647 1993
36
Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient. 61 56
1427884 1992
37
Multipoint linkage analysis in Menkes disease. 56 61
1570830 1992
38
Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2. 56 61
1348049 1992
39
High 64Cu uptake and retention values in two clinically atypical Menkes patients. 61 56
1956061 1991
40
Incidence of Menkes disease. 56 61
1999344 1991
41
Clinical expression of Menkes syndrome in females. 61 56
2289318 1990
42
Menkes' disease: a disorder of zinc metabolism? 56 61
2564143 1989
43
Copper histidinate therapy in Menkes' disease: prevention of progressive neurodegeneration. 61 56
2512453 1989
44
Vitamin C treatment in Menkes' disease: failure to affect biochemical and clinical parameters. 61 56
2512452 1989
45
The mild form of Menkes disease: progress report on the original case. 61 56
3189408 1988
46
Life-span and Menkes kinky hair syndrome: report of a 13-year course of this disease. 61 56
3359680 1988
47
Menkes syndrome in a girl with X-autosome translocation. 56 61
3812600 1987
48
Ectodermal manifestations in Menkes disease. 61 56
4075564 1985
49
Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein. 56 61
9556668 1985
50
Measurement of copper in chorionic villi for first-trimester diagnosis of Menkes' disease. 61 56
2859482 1985

Variations for Menkes Disease

ClinVar genetic disease variations for Menkes Disease:

6 (show top 50) (show all 284) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP7A NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)SNV Pathogenic 459840 rs1557237451 X:77289281-77289281 X:78033783-78033783
2 ATP7A NC_000023.10:g.(?_77271231)_(77271398_?)deldeletion Pathogenic 533690 X:77271231-77271398
3 ATP7A NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)SNV Pathogenic 581017 rs1569549699 X:77254175-77254175 X:77998678-77998678
4 ATP7A NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)deletion Pathogenic 571199 rs1569549974 X:77270219-77270219 X:78014722-78014722
5 ATP7A GRCh37/hg19 Xq21.1(chrX:77244108-77244998)copy number loss Pathogenic 625793 X:77244108-77244998
6 ATP7A NM_000052.7(ATP7A):c.453del (p.Thr152fs)deletion Pathogenic 642741 X:77244068-77244068 X:77988572-77988572
7 ATP7A NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)duplication Pathogenic 651544 X:77287035-77287036 X:78031537-78031538
8 ATP7A NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)SNV Pathogenic 657355 X:77298149-77298149 X:78042651-78042651
9 ATP7A NM_000052.7(ATP7A):c.3294+1G>ASNV Pathogenic 648378 X:77287081-77287081 X:78031583-78031583
10 ATP7A GRCh37/hg19 Xq21.1(chrX:77238734-77312616)copy number loss Pathogenic 870392 X:77238734-77312616
11 ATP7A NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu)SNV Pathogenic 11782 rs151340631 X:77266713-77266713 X:78011216-78011216
12 ATP7A NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)SNV Pathogenic 11784 rs72554649 X:77284768-77284768 X:78029271-78029271
13 ATP7A NM_000052.7(ATP7A):c.1707+1G>ASNV Pathogenic 11786 rs1569549753 X:77258734-77258734 X:78003237-78003237
14 ATP7A NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp)SNV Pathogenic 11788 rs72554652 X:77284886-77284886 X:78029389-78029389
15 ATP7A NM_000052.7(ATP7A):c.408_415del (p.Asn137fs)deletion Pathogenic 11790 rs1569549587 X:77244025-77244032 X:77988529-77988536
16 ATP7A ATP7A, EX3-4 DELdeletion Pathogenic 11791
17 ATP7A NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)SNV Pathogenic 11792 rs151340632 X:77298192-77298192 X:78042694-78042694
18 ATP7A NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)SNV Pathogenic 11793 rs151340633 X:77244218-77244218 X:77988722-77988722
19 ATP7A NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)deletion Pathogenic 846390 X:77298835-77298835 X:78043337-78043337
20 ATP7A NM_000052.7(ATP7A):c.1947-1G>ASNV Pathogenic 202206 rs794729231 X:77266945-77266945 X:78011448-78011448
21 ATP7A NM_000052.7(ATP7A):c.420_421AG[1] (p.Glu141fs)short repeat Pathogenic 210474 rs797045397 X:77244037-77244038 X:77988541-77988542
22 ATP7A NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter)SNV Pathogenic 210478 rs797045399 X:77244215-77244215 X:77988719-77988719
23 ATP7A NM_000052.7(ATP7A):c.876del (p.Ser293fs)deletion Pathogenic 210479 rs797045400 X:77244994-77244994 X:77989498-77989498
24 ATP7A NM_000052.7(ATP7A):c.1006G>T (p.Glu336Ter)SNV Pathogenic 210386 rs797045325 X:77245124-77245124 X:77989628-77989628
25 ATP7A NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs)duplication Pathogenic 210388 rs797045327 X:77245136-77245137 X:77989640-77989641
26 ATP7A NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)SNV Pathogenic 210389 rs72554636 X:77245343-77245343 X:77989847-77989847
27 ATP7A NM_000052.7(ATP7A):c.1355del (p.Val452fs)deletion Pathogenic 210391 rs797045329 X:77253993-77253993 X:77998496-77998496
28 ATP7A NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter)SNV Pathogenic 210392 rs797045330 X:77254098-77254098 X:77998601-77998601
29 ATP7A NM_000052.7(ATP7A):c.1544-1G>ASNV Pathogenic 210394 rs797045331 X:77258569-77258569 X:78003072-78003072
30 ATP7A NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)SNV Pathogenic 210395 rs797045332 X:77258665-77258665 X:78003168-78003168
31 ATP7A NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs)deletion Pathogenic 210396 rs797045333 X:77258692-77258693 X:78003195-78003196
32 ATP7A NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)SNV Pathogenic 210399 rs797045336 X:77264673-77264673 X:78009176-78009176
33 ATP7A NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter)SNV Pathogenic 210400 rs797045337 X:77264722-77264722 X:78009225-78009225
34 ATP7A NM_000052.7(ATP7A):c.1870-1G>CSNV Pathogenic 210401 rs797045338 X:77266672-77266672 X:78011175-78011175
35 ATP7A NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)SNV Pathogenic 210402 rs797045339 X:77266677-77266677 X:78011180-78011180
36 ATP7A NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)SNV Pathogenic 210404 rs72554640 X:77266736-77266736 X:78011239-78011239
37 ATP7A NM_000052.7(ATP7A):c.1946+1G>CSNV Pathogenic 210405 rs797045340 X:77266750-77266750 X:78011253-78011253
38 ATP7A NM_000052.7(ATP7A):c.1946+5G>ASNV Pathogenic 210406 rs797045341 X:77266754-77266754 X:78011257-78011257
39 ATP7A NM_000052.7(ATP7A):c.1947-1G>CSNV Pathogenic 210407 rs794729231 X:77266945-77266945 X:78011448-78011448
40 ATP7A NM_000052.7(ATP7A):c.1950G>A (p.Trp650Ter)SNV Pathogenic 210408 rs797045342 X:77266949-77266949 X:78011452-78011452
41 ATP7A NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs)duplication Pathogenic 210409 rs797045343 X:77266975-77266976 X:78011478-78011479
42 ATP7A NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)SNV Pathogenic 210411 rs797045344 X:77266995-77266995 X:78011498-78011498
43 ATP7A NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter)SNV Pathogenic 210414 rs797045346 X:77267159-77267159 X:78011662-78011662
44 ATP7A NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter)SNV Pathogenic 210421 rs797045351 X:77268390-77268390 X:78012893-78012893
45 ATP7A NM_000052.7(ATP7A):c.2248_2251dup (p.Val751fs)duplication Pathogenic 210422 rs797045352 X:77268448-77268449 X:78012951-78012952
46 ATP7A NM_000052.7(ATP7A):c.2302del (p.Ala768fs)deletion Pathogenic 210423 rs797045353 X:77268505-77268505 X:78013008-78013008
47 ATP7A NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg)SNV Pathogenic 210424 rs797045354 X:77268560-77268560 X:78013063-78013063
48 ATP7A NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)SNV Pathogenic 210425 rs72554645 X:77268586-77268586 X:78013089-78013089
49 ATP7A NM_000052.7(ATP7A):c.2395_2405delinsAGCATC (p.His799fs)indel Pathogenic 210426 rs797045355 X:77268598-77268608 X:78013101-78013111
50 ATP7A NM_000052.7(ATP7A):c.2405_2406+1delinsTindel Pathogenic 210427 rs797045356 X:77268608-77268610 X:78013111-78013113

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

73 (show all 33)
# Symbol AA change Variation ID SNP ID
1 ATP7A p.Ala629Pro VAR_000699 rs72554639
2 ATP7A p.Gly727Arg VAR_000700 rs72554644
3 ATP7A p.Leu1006Pro VAR_000701 rs72554651
4 ATP7A p.Gly1019Asp VAR_000702 rs72554652
5 ATP7A p.Leu873Arg VAR_010001 rs72554646
6 ATP7A p.Gly876Glu VAR_010002
7 ATP7A p.Cys1000Arg VAR_010003
8 ATP7A p.Gly1300Glu VAR_010004
9 ATP7A p.Gly1302Arg VAR_010005 rs72554657
10 ATP7A p.Gly1302Val VAR_010006
11 ATP7A p.Asp1305Ala VAR_010007
12 ATP7A p.Ala1362Val VAR_010008
13 ATP7A p.Leu706Arg VAR_023261 rs72554642
14 ATP7A p.Arg844His VAR_023262 rs367775730
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 rs72554654
24 ATP7A p.Gly1255Arg VAR_023272 rs72554655
25 ATP7A p.Lys1282Glu VAR_023273
26 ATP7A p.Asn1304Lys VAR_023274
27 ATP7A p.Gly1315Arg VAR_023275 rs797045390
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

Expression for Menkes Disease

Search GEO for disease gene expression data for Menkes Disease.

Pathways for Menkes Disease

GO Terms for Menkes Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 SOD1 PGAM1 PAM LOX ELN DBH
2 extracellular space GO:0005615 9.61 SOD1 PGK1 PAM LOX IGF2R DBH
3 secretory granule GO:0030141 9.58 SOD1 PAM ATP7A
4 trans-Golgi network GO:0005802 9.56 PAM IGF2R ATP7B ATP7A
5 secretory granule membrane GO:0030667 9.54 PAM IGF2R DBH
6 perikaryon GO:0043204 9.46 PAM CCK ATP7A ADCYAP1
7 trans-Golgi network transport vesicle GO:0030140 9.43 IGF2R ATP7A
8 cell GO:0005623 9.23 SOD1 MT2A LOX CP ATP7B ATP7A

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.73 SOD1 MTF1 ATOX1
2 locomotory behavior GO:0007626 9.7 SOD1 DBH ATP7A
3 lactation GO:0007595 9.63 PAM ATP7B ATP7A
4 cellular response to cadmium ion GO:0071276 9.61 SOD1 MT2A ATP7A
5 glycolytic process GO:0006096 9.58 PGK1 PGAM4 PGAM1
6 muscle cell cellular homeostasis GO:0046716 9.57 SOD1 LOX
7 response to metal ion GO:0010038 9.55 MTF1 MT2A
8 detoxification of copper ion GO:0010273 9.54 MT2A ATP7A
9 removal of superoxide radicals GO:0019430 9.51 SOD1 ATP7A
10 metal ion transport GO:0030001 9.5 ATP7B ATP7A ATOX1
11 elastic fiber assembly GO:0048251 9.49 LOX ATP7A
12 copper ion import GO:0015677 9.48 ATP7B ATP7A
13 response to copper ion GO:0046688 9.46 SOD1 PAM ATP7B ATP7A
14 copper ion export GO:0060003 9.43 ATP7B ATP7A ATOX1
15 divalent inorganic cation transport GO:0072511 9.37 ATP7B ATP7A
16 copper ion transport GO:0006825 9.26 CP ATP7B ATP7A ATOX1
17 cellular copper ion homeostasis GO:0006878 8.92 MT2A ATP7B ATP7A ATOX1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.03 SOD1 PAM MTF1 MT2A LOX EPS15
2 oxidoreductase activity GO:0016491 9.91 SOD1 PAM LOX DBH CP
3 chaperone binding GO:0051087 9.67 SOD1 CP ATP7A
4 L-ascorbic acid binding GO:0031418 9.54 PAM DBH
5 cation-transporting ATPase activity GO:0019829 9.52 ATP7B ATP7A
6 peptide hormone receptor binding GO:0051428 9.48 CCK ADCYAP1
7 intramolecular transferase activity, phosphotransferases GO:0016868 9.46 PGAM4 PGAM1
8 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 9.43 PAM DBH
9 copper ion transmembrane transporter activity GO:0005375 9.4 ATP7B ATP7A
10 phosphoglycerate mutase activity GO:0004619 9.37 PGAM4 PGAM1
11 bisphosphoglycerate mutase activity GO:0004082 9.32 PGAM4 PGAM1
12 copper ion binding GO:0005507 9.28 SOD1 PAM LOX DBH CP COMMD1
13 copper-dependent protein binding GO:0032767 9.16 ATP7A ATOX1
14 copper-transporting ATPase activity GO:0043682 8.96 ATP7B ATP7A

Sources for Menkes Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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