MNKD
MCID: MNK001
MIFTS: 62

Menkes Disease (MNKD)

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

Aliases & Classifications for Menkes Disease

MalaCards integrated aliases for Menkes Disease:

Name: Menkes Disease 57 12 75 53 25 54 59 74 13 55 15 40
Menkes Syndrome 57 53 25 59 74 37
Copper Transport Disease 57 12 75 53 25
Steely Hair Disease 57 53 59 74
Kinky Hair Disease 57 53 59 74
Mnk 57 25 59 74
Menkes Kinky-Hair Syndrome 12 29 6
Steely Hair Syndrome 12 25 59
Mk 57 25 59
X-Linked Copper Deficiency 25 59
Menkes Kinky Hair Syndrome 44 72
Kinky Hair Syndrome 25 59
Menkea Syndrome 53 25
Md 59 3
Copper Transport Disorders 29
Hypocupremia, Congenital 25
Trichopoliodystrophy 59
Mk; Mnk 57
Mnkd 74

Characteristics:

Orphanet epidemiological data:

59
menkes disease
Inheritance: X-linked recessive; Age of onset: Neonatal; Age of death: early childhood;

OMIM:

57
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:
Inheritance x-linked recessive inheritance
Clinical modifier death in childhood


Classifications:



External Ids:

Disease Ontology 12 DOID:1838
OMIM 57 309400
KEGG 37 H00209
MeSH 44 D007706
NCIt 50 C75486
SNOMED-CT 68 59178007
ICD10 via Orphanet 34 E83.0
UMLS via Orphanet 73 C0022716
Orphanet 59 ORPHA565
MedGen 42 C0022716
UMLS 72 C0022716

Summaries for Menkes Disease

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.

MalaCards based summary : Menkes Disease, also known as menkes syndrome, is related to occipital horn syndrome and hair disease, 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 HIF-1-alpha transcription factor network and Detoxification of Reactive Oxygen Species. The drugs Copper and Histidine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are pectus excavatum and seizures

NIH Rare Diseases : 53 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.

OMIM : 57 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)

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 : 54 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 : 37
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 : 74 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 : 75 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 290)
# Related Disease Score Top Affiliating Genes
1 occipital horn syndrome 32.8 LOX DBH ATP7A
2 hair disease 31.0 ATP7B ATP7A
3 wilson disease 29.1 CP COMMD1 ATP7B ATP7A ATOX1
4 acquired kinky hair syndrome 12.4
5 meckel syndrome, type 1 12.2
6 woolly hair syndrome 11.6
7 mckusick-kaufman syndrome 11.6
8 pili torti 11.6
9 muenke syndrome 11.3
10 gray platelet syndrome 11.2
11 meckel syndrome, type 7 11.2
12 pili torti, early-onset 11.2
13 disorder of copper metabolism 10.7
14 myeloid leukemia 10.6
15 hypotonia 10.5
16 visual epilepsy 10.4
17 atp7a-related copper transport disorders 10.4
18 seizure disorder 10.4
19 west syndrome 10.3
20 congenital rubella 10.3
21 rare neurodegenerative disease 10.3
22 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.3 ATP7B ATP7A
23 aneurysm 10.3
24 cerebral atrophy 10.2
25 thrombocytopenia 10.2
26 mitochondrial complex iv deficiency 10.2
27 x-linked recessive disease 10.2
28 status epilepticus 10.2
29 hypertension, essential 10.2
30 microcytic anemia 10.2
31 teratocarcinoma 10.2
32 embryonal carcinoma 10.2
33 ehlers-danlos syndrome 10.2
34 cutis laxa, autosomal recessive, type ib 10.2 LOX ELN
35 diffuse large b-cell lymphoma 10.2
36 glioblastoma multiforme 10.2
37 glioblastoma 10.2
38 glioma 10.2
39 glial tumor 10.2
40 phacogenic glaucoma 10.1 LOX ELN
41 bone resorption disease 10.1
42 nephronophthisis 10.1
43 depression 10.1
44 ciliopathy 10.1
45 ataxia and polyneuropathy, adult-onset 10.1
46 autosomal recessive disease 10.1
47 inguinal hernia 10.1
48 epilepsy 10.1
49 cutis laxa 10.1
50 pancreatic cancer 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:

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
5 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
6 inguinal hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000023
7 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
8 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
9 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
10 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
11 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
12 aplasia/hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0010318
13 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
14 hypopigmentation of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
15 intracranial hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002170
16 abnormal palate morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0000174
17 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
18 woolly hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002224
19 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
20 dilatation 32 hallmark (90%) HP:0002617
21 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
22 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
23 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
24 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
25 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
26 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
27 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
28 exostoses 59 32 frequent (33%) Frequent (79-30%) HP:0100777
29 abnormality of the metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0000944
30 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
31 wormian bones 59 32 frequent (33%) Frequent (79-30%) HP:0002645
32 prominent occiput 59 32 frequent (33%) Frequent (79-30%) HP:0000269
33 thickened skin 59 32 frequent (33%) Frequent (79-30%) HP:0001072
34 atypical scarring of skin 59 32 frequent (33%) Frequent (79-30%) HP:0000987
35 mask-like facies 59 32 frequent (33%) Frequent (79-30%) HP:0000298
36 arterial stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0100545
37 venous insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0005293
38 prolonged neonatal jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0006579
39 abnormal carotid artery morphology 32 frequent (33%) HP:0005344
40 hypothermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002045
41 chorea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002072
42 bowing of the long bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0006487
43 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
44 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
45 chondrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000934
46 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
47 osteomyelitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002754
48 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
49 spontaneous hematomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0007420
50 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
hypothermia
intracranial hemorrhage
hypotonia
mental retardation
more
Growth Height:
short stature

Skeletal Skull:
wormian bones

Cardiovascular Vascular:
intracranial hemorrhage

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

Growth Other:
intrauterine growth retardation

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:

46
# 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):


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

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

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:

41
Bone, Skin, Brain, Liver, Kidney, Testes, B Cells

Publications for Menkes Disease

Articles related to Menkes Disease:

(show top 50) (show all 883)
# Title Authors PMID Year
1
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. 9 38 8 71
14635105 2003
2
Lethal neonatal Menkes' disease with severe vasculopathy and fractures. 38 8 71
9894833 1998
3
Early development of occipital horns in a classical Menkes patient. 8 71
15372525 2004
4
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. 9 38 71
19194885 2009
5
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. 9 38 8
17717039 2007
6
A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation. 9 38 71
12221109 2002
7
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. 9 38 71
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. 9 38 8
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). 9 38 8
9668172 1998
10
Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. 9 38 8
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. 9 38 8
8947031 1996
12
A murine model of Menkes disease reveals a physiological function of metallothionein. 9 38 8
8640230 1996
13
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. 9 38 8
7842019 1994
14
Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice. 9 38 8
7959788 1994
15
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. 9 38 8
8490659 1993
16
Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. 9 38 8
2035533 1991
17
Menkes disease in affected females: the clinical disease spectrum. 38 8
25428120 2015
18
Clinical utility gene card for: Menkes disease. 38 71
21487442 2011
19
Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. 38 71
16826513 2006
20
Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy? 38 8
16630173 2006
21
ATP7A-Related Copper Transport Disorders 38 71
20301586 2003
22
Pamidronate treatment improves bone mineral density in children with Menkes disease. 38 8
12408189 2002
23
Clinical expression of Menkes disease in a girl with X;13 translocation. 38 8
10588844 1999
24
Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease. 38 8
9788559 1998
25
A Golgi localization signal identified in the Menkes recombinant protein. 38 8
9668166 1998
26
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. 38 8
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. 38 8
9321757 1997
28
Menkes disease: recent advances and new aspects. 38 8
9138147 1997
29
Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. 38 8
8914740 1996
30
Early copper-histidine treatment for Menkes disease. 38 8
8528242 1996
31
First trimester prenatal diagnosis of Menkes disease by DNA analysis. 38 8
7815418 1994
32
Copper-histidine therapy for Menkes disease. 38 8
8229500 1993
33
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. 38 8
8099605 1993
34
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. 38 8
8490646 1993
35
Isolation of a partial candidate gene for Menkes disease by positional cloning. 38 8
8490647 1993
36
Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient. 38 8
1427884 1992
37
Multipoint linkage analysis in Menkes disease. 38 8
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. 38 8
1348049 1992
39
High 64Cu uptake and retention values in two clinically atypical Menkes patients. 38 8
1956061 1991
40
Incidence of Menkes disease. 38 8
1999344 1991
41
Clinical expression of Menkes syndrome in females. 38 8
2289318 1990
42
Menkes' disease: a disorder of zinc metabolism? 38 8
2564143 1989
43
Vitamin C treatment in Menkes' disease: failure to affect biochemical and clinical parameters. 38 8
2512452 1989
44
Copper histidinate therapy in Menkes' disease: prevention of progressive neurodegeneration. 38 8
2512453 1989
45
The mild form of Menkes disease: progress report on the original case. 38 8
3189408 1988
46
Life-span and Menkes kinky hair syndrome: report of a 13-year course of this disease. 38 8
3359680 1988
47
Menkes syndrome in a girl with X-autosome translocation. 38 8
3812600 1987
48
Ectodermal manifestations in Menkes disease. 38 8
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. 38 8
9556668 1985
50
Measurement of copper in chorionic villi for first-trimester diagnosis of Menkes' disease. 38 8
2859482 1985

Variations for Menkes Disease

ClinVar genetic disease variations for Menkes Disease:

6 (show top 50) (show all 210)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATP7A NM_000052.7(ATP7A): c.3473C> A (p.Ser1158Ter) single nucleotide variant Pathogenic rs1557237451 X:77289281-77289281 X:78033783-78033783
2 ATP7A NM_000052.7(ATP7A): c.3049G> A (p.Gly1017Arg) single nucleotide variant Pathogenic rs1557236754 X:77284879-77284879 X:78029382-78029382
3 ATP7A NC_000023.10: g.(?_77271231)_(77271398_?)del deletion Pathogenic X:77271231-77271398 :0-0
4 ATP7A NM_000052.7(ATP7A): c.1910C> T (p.Ser637Leu) single nucleotide variant Pathogenic rs151340631 X:77266713-77266713 X:78011216-78011216
5 ATP7A NM_000052.7(ATP7A): c.2938C> T (p.Arg980Ter) single nucleotide variant Pathogenic rs72554649 X:77284768-77284768 X:78029271-78029271
6 ATP7A NM_000052.7(ATP7A): c.1707+1G> A single nucleotide variant Pathogenic X:77258734-77258734 X:78003237-78003237
7 ATP7A NM_000052.7(ATP7A): c.3056G> A (p.Gly1019Asp) single nucleotide variant Pathogenic rs72554652 X:77284886-77284886 X:78029389-78029389
8 ATP7A NM_000052.7(ATP7A): c.408_415del (p.Asn137fs) deletion Pathogenic X:77244025-77244032 X:77988529-77988536
9 ATP7A ATP7A, EX3-4 DEL deletion Pathogenic
10 ATP7A NM_000052.7(ATP7A): c.3911A> G (p.Asn1304Ser) single nucleotide variant Pathogenic rs151340632 X:77298192-77298192 X:78042694-78042694
11 ATP7A NM_000052.7(ATP7A): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs151340633 X:77244218-77244218 X:77988722-77988722
12 ATP7A NM_000052.7(ATP7A): c.1947-1G> A single nucleotide variant Pathogenic rs794729231 X:77266945-77266945 X:78011448-78011448
13 ATP7A NM_000052.7(ATP7A): c.1020_1024dup (p.Leu342fs) duplication Pathogenic rs797045327 X:77245138-77245142 X:77989642-77989646
14 ATP7A NM_000052.7(ATP7A): c.420_421AG[1] (p.Glu141fs) short repeat Pathogenic rs797045397 X:77244038-77244039 X:77988542-77988543
15 ATP7A NM_000052.7(ATP7A): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs797045399 X:77244215-77244215 X:77988719-77988719
16 ATP7A NM_000052.7(ATP7A): c.876del (p.Ser293fs) deletion Pathogenic rs797045400 X:77244994-77244994 X:77989498-77989498
17 ATP7A NM_000052.7(ATP7A): c.1006G> T (p.Glu336Ter) single nucleotide variant Pathogenic rs797045325 X:77245124-77245124 X:77989628-77989628
18 ATP7A NM_000052.7(ATP7A): c.1225C> T (p.Arg409Ter) single nucleotide variant Pathogenic rs72554636 X:77245343-77245343 X:77989847-77989847
19 ATP7A NM_000052.7(ATP7A): c.1355del (p.Val452fs) deletion Pathogenic rs797045329 X:77253993-77253993 X:77998496-77998496
20 ATP7A NM_000052.7(ATP7A): c.1460C> A (p.Ser487Ter) single nucleotide variant Pathogenic rs797045330 X:77254098-77254098 X:77998601-77998601
21 ATP7A NM_000052.7(ATP7A): c.1544-1G> A single nucleotide variant Pathogenic rs797045331 X:77258569-77258569 X:78003072-78003072
22 ATP7A NM_000052.7(ATP7A): c.1639C> T (p.Arg547Ter) single nucleotide variant Pathogenic rs797045332 X:77258665-77258665 X:78003168-78003168
23 ATP7A NM_000052.7(ATP7A): c.1667_1668del (p.Ile556fs) deletion Pathogenic rs797045333 X:77258693-77258694 X:78003196-78003197
24 ATP7A NM_000052.7(ATP7A): c.1782C> G (p.Tyr594Ter) single nucleotide variant Pathogenic rs797045336 X:77264673-77264673 X:78009176-78009176
25 ATP7A NM_000052.7(ATP7A): c.1831G> T (p.Glu611Ter) single nucleotide variant Pathogenic rs797045337 X:77264722-77264722 X:78009225-78009225
26 ATP7A NM_000052.7(ATP7A): c.1870-1G> C single nucleotide variant Pathogenic rs797045338 X:77266672-77266672 X:78011175-78011175
27 ATP7A NM_000052.7(ATP7A): c.1874T> G (p.Leu625Ter) single nucleotide variant Pathogenic rs797045339 X:77266677-77266677 X:78011180-78011180
28 ATP7A NM_000052.7(ATP7A): c.1933C> T (p.Arg645Ter) single nucleotide variant Pathogenic rs72554640 X:77266736-77266736 X:78011239-78011239
29 ATP7A NM_000052.7(ATP7A): c.1946+1G> C single nucleotide variant Pathogenic rs797045340 X:77266750-77266750 X:78011253-78011253
30 ATP7A NM_000052.7(ATP7A): c.1946+5G> A single nucleotide variant Pathogenic rs797045341 X:77266754-77266754 X:78011257-78011257
31 ATP7A NM_000052.7(ATP7A): c.1947-1G> C single nucleotide variant Pathogenic rs794729231 X:77266945-77266945 X:78011448-78011448
32 ATP7A NM_000052.7(ATP7A): c.1950G> A (p.Trp650Ter) single nucleotide variant Pathogenic rs797045342 X:77266949-77266949 X:78011452-78011452
33 ATP7A NM_000052.7(ATP7A): c.1978_2008dup (p.Tyr670fs) duplication Pathogenic rs797045343 X:77266977-77267007 X:78011480-78011510
34 ATP7A NM_000052.7(ATP7A): c.2172+5G> C single nucleotide variant Pathogenic rs797045347 X:77267176-77267176 X:78011679-78011679
35 ATP7A NM_000052.7(ATP7A): c.2173-2A> G single nucleotide variant Pathogenic rs797045349 X:77268374-77268374 X:78012877-78012877
36 ATP7A NM_000052.7(ATP7A): c.2179G> A (p.Gly727Arg) single nucleotide variant Pathogenic rs72554644 X:77268382-77268382 X:78012885-78012885
37 ATP7A NM_000052.7(ATP7A): c.2179G> T (p.Gly727Ter) single nucleotide variant Pathogenic rs72554644 X:77268382-77268382 X:78012885-78012885
38 ATP7A NM_000052.7(ATP7A): c.2187G> A (p.Trp729Ter) single nucleotide variant Pathogenic rs797045351 X:77268390-77268390 X:78012893-78012893
39 ATP7A NM_000052.7(ATP7A): c.2248_2251dup (p.Val751fs) duplication Pathogenic rs797045352 X:77268451-77268454 X:78012954-78012957
40 ATP7A NM_000052.7(ATP7A): c.2302del (p.Ala768fs) deletion Pathogenic rs797045353 X:77268505-77268505 X:78013008-78013008
41 ATP7A NM_000052.7(ATP7A): c.2357T> G (p.Met786Arg) single nucleotide variant Pathogenic rs797045354 X:77268560-77268560 X:78013063-78013063
42 ATP7A NM_000052.7(ATP7A): c.2383C> T (p.Arg795Ter) single nucleotide variant Pathogenic rs72554645 X:77268586-77268586 X:78013089-78013089
43 ATP7A NM_000052.7(ATP7A): c.2395_2405delinsAGCATC (p.His799fs) indel Pathogenic rs797045355 X:77268598-77268608 X:78013101-78013111
44 ATP7A NM_000052.7(ATP7A): c.2405_2406+1delinsT indel Pathogenic rs797045356 X:77268608-77268610 X:78013111-78013113
45 ATP7A NM_000052.7(ATP7A): c.2498+2T> A single nucleotide variant Pathogenic rs797045357 X:77270252-77270252 X:78014755-78014755
46 ATP7A NM_000052.7(ATP7A): c.2499-1G> A single nucleotide variant Pathogenic rs797045359 X:77271250-77271250 X:78015753-78015753
47 ATP7A NM_000052.7(ATP7A): c.2499-1_2504dup duplication Pathogenic rs797045358 X:77271250-77271256 X:78015753-78015759
48 ATP7A NM_000052.7(ATP7A): c.2555C> T (p.Pro852Leu) single nucleotide variant Pathogenic rs797045360 X:77271307-77271307 X:78015810-78015810
49 ATP7A NM_000052.7(ATP7A): c.2645dup (p.Ala882_Lys883insTer) duplication Pathogenic rs797045361 X:77275759-77275759 X:78020262-78020262
50 ATP7A NM_000052.7(ATP7A): c.3069_3083del (p.Ile1024_Gly1028del) deletion Pathogenic rs797045366 X:77284898-77284912 X:78029401-78029415

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

74 (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 trans-Golgi network GO:0005802 8.8 PAM ATP7B ATP7A

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.86 PAM LOX DBH CP
2 ion transport GO:0006811 9.84 CP ATP7B ATP7A ATOX1
3 lactation GO:0007595 9.58 PAM ATP7B ATP7A
4 collagen fibril organization GO:0030199 9.55 LOX ATP7A
5 glycolytic process GO:0006096 9.52 PGK1 PGAM4
6 blood vessel remodeling GO:0001974 9.51 DBH ATP7A
7 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.49 ATP7B ATP7A
8 elastic fiber assembly GO:0048251 9.48 LOX ATP7A
9 copper ion import GO:0015677 9.46 ATP7B ATP7A
10 metal ion transport GO:0030001 9.43 ATP7B ATP7A ATOX1
11 response to copper ion GO:0046688 9.33 PAM ATP7B ATP7A
12 copper ion export GO:0060003 9.32 ATP7B ATP7A
13 copper ion transmembrane transport GO:0035434 9.13 ATP7B
14 cellular copper ion homeostasis GO:0006878 9.13 ATP7B ATP7A ATOX1
15 protein maturation by copper ion transfer GO:0015680 9.07 ATP7B
16 copper ion transport GO:0006825 8.92 CP ATP7B ATP7A ATOX1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.78 PAM LOX DBH CP
2 monooxygenase activity GO:0004497 9.49 PAM DBH
3 L-ascorbic acid binding GO:0031418 9.46 PAM DBH
4 cation-transporting ATPase activity GO:0019829 9.4 ATP7B ATP7A
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 9.37 PAM DBH
6 copper-dependent protein binding GO:0032767 9.32 ATP7A ATOX1
7 copper-transporting ATPase activity GO:0043682 9.26 ATP7B ATP7A
8 copper ion binding GO:0005507 9.23 PAM LOX DBH CP COMMD1 ATP7B
9 copper-exporting ATPase activity GO:0004008 9.16 ATP7B ATP7A
10 copper ion transmembrane transporter activity GO:0005375 8.96 ATP7B ATP7A
11 metal ion binding GO:0046872 10.03 PAM LOX DBH CP COMMD1 ATP7B

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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