MNK
MCID: MNK001
MIFTS: 64

Menkes Disease (MNK)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Menkes Disease

MalaCards integrated aliases for Menkes Disease:

Name: Menkes Disease 57 11 19 42 52 58 75 73 12 53 14 38
Copper Transport Disease 57 11 19 42 75
Menkes Syndrome 57 19 42 58 73
Menkes Kinky-Hair Syndrome 11 28 5
Steely Hair Disease 57 19 73
Kinky Hair Disease 57 19 73
Mnk 57 42 73
Menkes Kinky Hair Syndrome 43 71
Steely Hair Syndrome 11 42
Menkea Syndrome 19 42
Mk 57 42
Md 58 2
X-Linked Copper Deficiency 42
Menkes Kinky Hair Disease 58
Hypocupremia, Congenital 42
Kinky Hair Syndrome 42

Characteristics:


Inheritance:

X-linked recessive 58 57

Prevelance:

1-9/1000000 (Japan) 1-9/100000 (Australia) 58

Age Of Onset:

Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

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


Summaries for Menkes Disease

MedlinePlus Genetics: 42 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 copper transport disease, 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 Detoxification of Reactive Oxygen Species and Copper homeostasis. The drugs Histidine and Copper have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are seizure and spasticity

NINDS: 52 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.

GARD: 19 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. Occipital horn syndrome is a less severe form of MD that begins in early to middle childhood. MD is caused by alterations in the ATP7A gene and is inherited in an X-linked recessive pattern. MD mainly affects boys.

UniProtKB/Swiss-Prot: 73 An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate.

CDC: 2 Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get help as early as possible. Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.

Orphanet: 58 A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair.

OMIM®: 57 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) (Updated 08-Dec-2022)

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 243)
# Related Disease Score Top Affiliating Genes
1 occipital horn syndrome 32.0 PAM LOX ELN DBH CP COX17
2 disorder of copper metabolism 31.6 ATP7B ATP7A
3 bladder diverticulum 30.8 LOX ELN DBH CP ATP7A
4 dopamine beta-hydroxylase deficiency 30.8 DBH ATP7A
5 spinal muscular atrophy, distal, x-linked 3 30.8 PAM DBH CP COX17 ATP7B ATP7A
6 cutis laxa 30.7 LOX ELN ATP7A
7 wilson disease 30.7 SOD1 SLC31A1 LOX DNAH8 DBH CP
8 hypoascorbemia 30.4 PAM DBH
9 deficiency anemia 30.0 SLC31A1 PGK1 CP COX17 ATP7A ATOX1
10 pili torti, early-onset 11.3
11 acquired kinky hair syndrome 11.3
12 hypotonia 10.6
13 hair disease 10.4
14 atp7a-related copper transport disorders 10.4
15 west syndrome 10.3
16 ureteric orifice cancer 10.3 LOX ELN
17 postcholecystectomy syndrome 10.3 SOD1 CCK
18 combat disorder 10.3 SLC31A1 ATP7B
19 tardive dyskinesia 10.3 SOD1 DBH
20 leukemia, acute myeloid 10.3
21 acute myeloid leukemia with recurrent genetic anomaly 10.3
22 exfoliation syndrome 10.3 SOD1 LOX ELN
23 postpoliomyelitis syndrome 10.3 SOD1 PAM
24 epilepsy 10.3
25 copper deficiency myelopathy 10.3 PAM CP ATP7B ATP7A
26 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.3 PAM CP ATP7B ATP7A
27 choreatic disease 10.3 SOD1 CP ATP7B
28 connective tissue disease 10.3
29 cerebral atrophy 10.3
30 craniosynostosis 1 10.2
31 rubella 10.2
32 rare neurodegenerative disease 10.2
33 autosomal recessive cutis laxa type i 10.2 LOX ELN
34 mitochondrial complex iv deficiency, nuclear type 1 10.2
35 mitochondrial disease 10.2
36 leukemia 10.2
37 autosomal recessive cutis laxa type ii classic type 10.2 ELN ATP7A
38 status epilepticus 10.2
39 pulmonary alveolar proteinosis, acquired 10.2
40 myeloid leukemia 10.2
41 metal metabolism disorder 10.1 SLC31A1 CP COX17 ATP7B ATP7A ATOX1
42 inguinal hernia 10.1
43 urinary tract infection 10.1
44 familial woolly hair syndrome 10.1
45 alzheimer disease, familial, 1 10.1 SOD1 LOX DBH CP CCK ATP7A
46 aceruloplasminemia 10.1 PAM CP COX17 CCS ATP7B ATP7A
47 ehlers-danlos syndrome, spondylodysplastic type, 3 10.1 LOX ELN
48 ataxia-telangiectasia 10.1
49 melanosis, neurocutaneous 10.1
50 ataxia with vitamin e deficiency 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 30 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001250
2 spasticity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001257
3 hypotonia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001252
4 developmental regression 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002376
5 inguinal hernia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000023
6 umbilical hernia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001537
7 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
8 feeding difficulties in infancy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008872
9 fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012378
10 aplasia/hypoplasia of the abdominal wall musculature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010318
11 dry skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000958
12 pectus excavatum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000767
13 hypopigmentation of hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005599
14 joint hyperflexibility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005692
15 intracranial hemorrhage 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002170
16 hyperextensible skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000974
17 sparse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008070
18 abnormal palate morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000174
19 woolly hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002224
20 vascular dilatation 30 Hallmark (90%) HP:0002617
21 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
22 nausea and vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002017
23 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
24 behavioral abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0000708
25 malabsorption 58 30 Frequent (33%) Frequent (79-30%)
HP:0002024
26 full cheeks 58 30 Frequent (33%) Frequent (79-30%)
HP:0000293
27 prominent occiput 58 30 Frequent (33%) Frequent (79-30%)
HP:0000269
28 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
29 atypical scarring of skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000987
30 mask-like facies 58 30 Frequent (33%) Frequent (79-30%)
HP:0000298
31 arterial stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100545
32 narrow chest 58 30 Frequent (33%) Frequent (79-30%)
HP:0000774
33 venous insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0005293
34 wormian bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0002645
35 thickened skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0001072
36 prolonged neonatal jaundice 58 30 Frequent (33%) Frequent (79-30%)
HP:0006579
37 exostoses 58 30 Frequent (33%) Frequent (79-30%)
HP:0100777
38 abnormal metaphysis morphology 30 Frequent (33%) HP:0000944
39 abnormal carotid artery morphology 30 Frequent (33%) HP:0005344
40 hypothermia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002045
41 chorea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002072
42 bowing of the long bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006487
43 hypoglycemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001943
44 osteoporosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000939
45 intrauterine growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001511
46 recurrent fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002757
47 gastrointestinal hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002239
48 bladder diverticulum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000015
49 osteomyelitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002754
50 sepsis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100806

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hypothermia
hypotonia
intracranial hemorrhage
seizures
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 (Updated 08-Dec-2022)

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 10.09 ATOX1 ATP7A ATP7B CCK CCS COX17
2 liver/biliary system MP:0005370 9.8 ATOX1 ATP7A ATP7B CP EIF2AK3 SLC31A1
3 pigmentation MP:0001186 9.72 ATOX1 ATP7A ATP7B CP SLC31A1
4 cardiovascular system MP:0005385 9.65 ATOX1 ATP7A CP DBH ELN EPS15
5 mortality/aging MP:0010768 9.47 ATOX1 ATP7A ATP7B COX17 DBH EIF2AK3

Drugs & Therapeutics for Menkes Disease

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histidine Investigational, Nutraceutical Phase 3 71-00-1 6274
2
Copper Approved, Investigational Phase 1, Phase 2 7440-50-8 27099
3
Droxidopa Approved, Investigational Phase 1, Phase 2 23651-95-8 443940 92974
4 Copper Supplement Phase 1, Phase 2
5 Trace Elements Phase 1, Phase 2
6 Micronutrients Phase 1, Phase 2
7 Antiparkinson Agents Phase 1, Phase 2

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 Completed NCT00811785 Phase 3 Copper Histidine
2 Early Copper Histidine Therapy in Menkes Disease Completed NCT00001262 Phase 1, Phase 2 Copper Histidine
3 Phase I/II Study of NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Adults With Occipital Horn Syndrome: Double-blind Placebo-controlled Randomized Crossover Clinical Trial Recruiting NCT04977388 Phase 1, Phase 2 Droxidopa
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
6 An Investigator-initiated Trial Evaluating the Efficacy and Safety of Recombinant Adeno-associated Virus Administration in Patients With Menkes Syndrome Terminated NCT05507996 Early Phase 1 Recombinant adeno-associated virus administration

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 28 ATP7A

Anatomical Context for Menkes Disease

Organs/tissues related to Menkes Disease:

MalaCards : Skin, Brain, Bone, Kidney, Liver, Bone Marrow, Temporal Lobe
ODiseA: Blood And Bone Marrow

Publications for Menkes Disease

Articles related to Menkes Disease:

(show top 50) (show all 1129)
# Title Authors PMID Year
1
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. 53 62 57 5
14635105 2003
2
Lethal neonatal Menkes' disease with severe vasculopathy and fractures. 62 57 5
9894833 1998
3
Early development of occipital horns in a classical Menkes patient. 57 5
15372525 2004
4
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. 53 62 5
19194885 2009
5
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R. 53 62 5
18752978 2008
6
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. 53 62 57
17717039 2007
7
A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation. 53 62 5
12221109 2002
8
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. 53 62 5
11241493 2001
9
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. 53 62 5
10739752 2000
10
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. 53 62 57
10484781 1999
11
Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1). 53 62 57
9668172 1998
12
Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. 53 62 57
9215672 1997
13
Identification of point mutations in 41 unrelated patients affected with Menkes disease. 53 62 5
8981948 1997
14
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. 53 62 57
8947031 1996
15
A murine model of Menkes disease reveals a physiological function of metallothionein. 53 62 57
8640230 1996
16
Diverse mutations in patients with Menkes disease often lead to exon skipping. 53 62 5
7977350 1994
17
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. 53 62 57
7842019 1994
18
Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice. 53 62 57
7959788 1994
19
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. 53 62 57
8490659 1993
20
Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. 53 62 57
2035533 1991
21
Genetic causes of fractures and subdural hematomas: fact versus fiction. 62 5
33999244 2021
22
Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects. 62 5
32293788 2020
23
Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice. 62 57
32381719 2020
24
Erratum: Correction of Error in Result: Urological Problems in Patients with Menkes Disease. 62 5
31124329 2019
25
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis. 62 5
30809870 2019
26
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease. 62 5
28397151 2017
27
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. 62 5
28389643 2017
28
Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia. 62 5
26117549 2015
29
Menkes disease in affected females: the clinical disease spectrum. 62 57
25428120 2015
30
Changes in body weight and height in survivors of Menkes disease. 62 5
25150085 2014
31
Congenital abnormalities in Japanese patients with Menkes disease. 62 5
22361452 2012
32
Splice site mutations in the ATP7A gene. 62 5
21494555 2011
33
Twenty-five novel mutations including duplications in the ATP7A gene. 62 5
21208200 2011
34
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. 62 5
20652413 2010
35
Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. 62 5
16826513 2006
36
Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy? 62 57
16630173 2006
37
ATP7A-Related Copper Transport Disorders 62 5
20301586 2003
38
Pamidronate treatment improves bone mineral density in children with Menkes disease. 62 57
12408189 2002
39
Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. 62 5
11350187 2001
40
Clinical expression of Menkes disease in a girl with X;13 translocation. 62 57
10588844 1999
41
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. 62 5
10319589 1999
42
Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease. 62 57
9788559 1998
43
A Golgi localization signal identified in the Menkes recombinant protein. 62 57
9668166 1998
44
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. 62 57
9511979 1998
45
Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. 62 57
9321757 1997
46
Menkes disease: recent advances and new aspects. 62 57
9138147 1997
47
Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. 62 57
8914740 1996
48
Early copper-histidine treatment for Menkes disease. 62 57
8528242 1996
49
First trimester prenatal diagnosis of Menkes disease by DNA analysis. 62 57
7815418 1994
50
Copper-histidine therapy for Menkes disease. 62 57
8229500 1993

Variations for Menkes Disease

ClinVar genetic disease variations for Menkes Disease:

5 (show top 50) (show all 912)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP7A NM_000052.7(ATP7A):c.1707+1G>A SNV Pathogenic
11786 rs1569549753 GRCh37: X:77258734-77258734
GRCh38: X:78003237-78003237
2 ATP7A NM_000052.7(ATP7A):c.408_415del (p.Asn137fs) DEL Pathogenic
11790 rs1569549587 GRCh37: X:77244025-77244032
GRCh38: X:77988529-77988536
3 ATP7A ATP7A, EX3-4 DEL DEL Pathogenic
11791 GRCh37:
GRCh38:
4 ATP7A NM_000052.7(ATP7A):c.1947-1G>A SNV Pathogenic
202206 rs794729231 GRCh37: X:77266945-77266945
GRCh38: X:78011448-78011448
5 ATP7A NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) DEL Pathogenic
571199 rs1569549974 GRCh37: X:77270219-77270219
GRCh38: X:78014722-78014722
6 ATP7A GRCh37/hg19 Xq21.1(chrX:77244108-77244998) CN LOSS Pathogenic
625793 GRCh37: X:77244108-77244998
GRCh38:
7 ATP7A NM_000052.7(ATP7A):c.3294+1G>A SNV Pathogenic
648378 rs797045374 GRCh37: X:77287081-77287081
GRCh38: X:78031583-78031583
8 ATP7A NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter) SNV Pathogenic
657355 rs1603391120 GRCh37: X:77298149-77298149
GRCh38: X:78042651-78042651
9 ATP7A NM_000052.7(ATP7A):c.4085C>T (p.Ala1362Val) SNV Pathogenic
1332708 GRCh37: X:77298894-77298894
GRCh38: X:78043396-78043396
10 ATP7A NC_000023.10:g.(?_77264993)_(77268389_?)del DEL Pathogenic
1356350 GRCh37: X:77264993-77268389
GRCh38:
11 ATP7A NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter) SNV Pathogenic
1403273 GRCh37: X:77244920-77244920
GRCh38: X:77989424-77989424
12 ATP7A NC_000023.10:g.(?_77227108)_(77227268_?)del DEL Pathogenic
1459436 GRCh37: X:77227108-77227268
GRCh38:
13 ATP7A NM_000052.7(ATP7A):c.1898_1911del (p.Lys633fs) DEL Pathogenic
1064448 GRCh37: X:77266696-77266709
GRCh38: X:78011199-78011212
14 ATP7A NM_000052.7(ATP7A):c.4027del (p.Ala1343fs) DEL Pathogenic
846390 rs2078061940 GRCh37: X:77298835-77298835
GRCh38: X:78043337-78043337
15 ATP7A NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter) SNV Pathogenic
945136 rs2078030304 GRCh37: X:77294348-77294348
GRCh38: X:78038850-78038850
16 ATP7A NM_000052.7(ATP7A):c.462dup (p.Lys155fs) DUP Pathogenic
964347 rs2077652014 GRCh37: X:77244078-77244079
GRCh38: X:77988582-77988583
17 ATP7A NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer) DEL Pathogenic
971523 rs2077660153 GRCh37: X:77245391-77245391
GRCh38: X:77989895-77989895
18 ATP7A NC_000023.10:g.(?_77270139)_(77271398_?)del DEL Pathogenic
1073823 GRCh37: X:77270139-77271398
GRCh38:
19 ATP7A NM_000052.7(ATP7A):c.2289_2290insCTAGTTGCAATGTATGAGAGAGCCAAAGTGAACCCTATTACTTTCTTTGACACACCCCCTATGCTGTTTGT (p.Ile764fs) INSERT Pathogenic
1073942 GRCh37: X:77268491-77268492
GRCh38: X:78012994-78012995
20 ATP7A NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) SNV Pathogenic
459840 rs1557237451 GRCh37: X:77289281-77289281
GRCh38: X:78033783-78033783
21 ATP7A NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs) DUP Pathogenic
651544 rs1603389393 GRCh37: X:77287035-77287036
GRCh38: X:78031537-78031538
22 ATP7A NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) SNV Pathogenic
11788 rs72554652 GRCh37: X:77284886-77284886
GRCh38: X:78029389-78029389
23 ATP7A NM_000052.7(ATP7A):c.1946+5G>A SNV Pathogenic
210406 rs797045341 GRCh37: X:77266754-77266754
GRCh38: X:78011257-78011257
24 ATP7A NM_000052.7(ATP7A):c.2499-1_2504dup DUP Pathogenic
210430 rs797045358 GRCh37: X:77271248-77271249
GRCh38: X:78015751-78015752
25 ATP7A NM_000052.7(ATP7A):c.2405_2406+1delinsT INDEL Pathogenic
210427 rs797045356 GRCh37: X:77268608-77268610
GRCh38: X:78013111-78013113
26 ATP7A NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg) SNV Pathogenic
210464 rs797045388 GRCh37: X:77298201-77298201
GRCh38: X:78042703-78042703
27 ATP7A NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs) DUP Pathogenic
210409 rs797045343 GRCh37: X:77266975-77266976
GRCh38: X:78011478-78011479
28 ATP7A NM_000052.6(ATP7A):c.3152_3156delACGGAins4 INDEL Pathogenic
210445 GRCh37: X:77286938-77286942
GRCh38: X:78031440-78031444
29 ATP7A NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg) SNV Pathogenic
210467 rs797045390 GRCh37: X:77298224-77298224
GRCh38: X:78042726-78042726
30 ATP7A NM_000052.7(ATP7A):c.3124del (p.Val1042fs) DEL Pathogenic
210442 rs797045368 GRCh37: X:77286909-77286909
GRCh38: X:78031411-78031411
31 ATP7A NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg) SNV Pathogenic
210424 rs797045354 GRCh37: X:77268560-77268560
GRCh38: X:78013063-78013063
32 ATP7A NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter) SNV Pathogenic
210451 rs797045377 GRCh37: X:77289187-77289187
GRCh38: X:78033689-78033689
33 ATP7A NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs) DEL Pathogenic
210396 rs797045333 GRCh37: X:77258692-77258693
GRCh38: X:78003195-78003196
34 ATP7A NM_000052.7(ATP7A):c.2645dup (p.Ala882_Lys883insTer) DUP Pathogenic
210433 rs797045361 GRCh37: X:77275758-77275759
GRCh38: X:78020261-78020262
35 ATP7A NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter) SNV Pathogenic
210454 rs797045379 GRCh37: X:77289310-77289310
GRCh38: X:78033812-78033812
36 ATP7A NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) SNV Pathogenic
210399 rs797045336 GRCh37: X:77264673-77264673
GRCh38: X:78009176-78009176
37 ATP7A NM_000052.7(ATP7A):c.4132dup (p.Met1378fs) DUP Pathogenic
210472 rs797045395 GRCh37: X:77300974-77300975
GRCh38: X:78045477-78045478
38 ATP7A NM_000052.7(ATP7A):c.2173-2A>G SNV Pathogenic
210417 rs797045349 GRCh37: X:77268374-77268374
GRCh38: X:78012877-78012877
39 ATP7A NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter) SNV Pathogenic
210414 rs797045346 GRCh37: X:77267159-77267159
GRCh38: X:78011662-78011662
40 ATP7A NC_000023.10:g.(?_77271231)_(77271398_?)del DEL Pathogenic
533690 GRCh37: X:77271231-77271398
GRCh38:
41 ATP7A NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly) INDEL Pathogenic
210443 rs797045369 GRCh37: X:77286913-77286917
GRCh38: X:78031415-78031419
42 ATP7A NM_000052.7(ATP7A):c.3069_3083del (p.Ile1024_Gly1028del) DEL Pathogenic
210440 rs797045366 GRCh37: X:77284897-77284911
GRCh38: X:78029400-78029414
43 ATP7A NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) SNV Pathogenic
210402 rs797045339 GRCh37: X:77266677-77266677
GRCh38: X:78011180-78011180
44 ATP7A NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs) INDEL Pathogenic
210460 rs797045384 GRCh37: X:77296205-77296206
GRCh38: X:78040707-78040708
45 ATP7A NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) SNV Pathogenic
Pathogenic
210425 rs72554645 GRCh37: X:77268586-77268586
GRCh38: X:78013089-78013089
46 ATP7A NM_000052.7(ATP7A):c.876del (p.Ser293fs) DEL Pathogenic
210479 rs797045400 GRCh37: X:77244994-77244994
GRCh38: X:77989498-77989498
47 ATP7A NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter) SNV Pathogenic
210446 rs797045372 GRCh37: X:77287071-77287071
GRCh38: X:78031573-78031573
48 ATP7A NM_000052.7(ATP7A):c.1355del (p.Val452fs) DEL Pathogenic
210391 rs797045329 GRCh37: X:77253993-77253993
GRCh38: X:77998496-77998496
49 ATP7A NM_000052.7(ATP7A):c.4005+1G>T SNV Pathogenic
Likely Pathogenic
210468 rs797045391 GRCh37: X:77298287-77298287
GRCh38: X:78042789-78042789
50 ATP7A NM_000052.7(ATP7A):c.3340del (p.Val1114fs) DEL Pathogenic
210449 rs797045375 GRCh37: X:77289148-77289148
GRCh38: X:78033650-78033650

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

73 (show all 47)
# 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.Ala1007Val VAR_023267
19 ATP7A p.Gly1015Asp VAR_023268
20 ATP7A p.Asp1044Gly VAR_023269
21 ATP7A p.Leu1100Pro VAR_023270
22 ATP7A p.Gly1118Asp VAR_023271 rs72554654
23 ATP7A p.Gly1255Arg VAR_023272 rs72554655
24 ATP7A p.Lys1282Glu VAR_023273
25 ATP7A p.Asn1304Lys VAR_023274
26 ATP7A p.Gly1315Arg VAR_023275 rs797045390
27 ATP7A p.Ala1325Val VAR_023276
28 ATP7A p.Ser1344Arg VAR_023277
29 ATP7A p.Ile1345Phe VAR_023278
30 ATP7A p.Gly1369Arg VAR_023279
31 ATP7A p.Ser1397Phe VAR_023280
32 ATP7A p.Thr1048Ile VAR_068831
33 ATP7A p.Glu628Val VAR_084344
34 ATP7A p.Lys633Arg VAR_084345
35 ATP7A p.Ser653Tyr VAR_084346
36 ATP7A p.Gly666Arg VAR_084347 rs797045344
37 ATP7A p.Gly728Asp VAR_084348 rs797045350
38 ATP7A p.Ser761Pro VAR_084349
39 ATP7A p.Lys802Asn VAR_084350
40 ATP7A p.Gly1005Arg VAR_084351 rs1569550143
41 ATP7A p.Lys1037Asn VAR_084352
42 ATP7A p.Asp1301Gly VAR_084353 rs1557238588
43 ATP7A p.Gly1302Glu VAR_084354
44 ATP7A p.Asp1305Gly VAR_084355
45 ATP7A p.Ala1308Asp VAR_084356
46 ATP7A p.Ala1373Pro VAR_084357
47 ATP7A p.Met1393Thr VAR_084358

Expression for Menkes Disease

Search GEO for disease gene expression data for Menkes Disease.

Pathways for Menkes Disease

GO Terms for Menkes Disease

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 glycolytic process GO:0006096 9.95 PGK1 PGAM4 PGAM1
2 monoatomic ion transport GO:0006811 9.93 SLC31A1 CP ATP7B ATP7A ATOX1
3 lactation GO:0007595 9.93 PAM ATP7B ATP7A
4 removal of superoxide radicals GO:0019430 9.85 ATP7A CCS SOD1
5 elastic fiber assembly GO:0048251 9.83 LOX ATP7A
6 copper ion homeostasis GO:0055070 9.8 ATP7B ATP7A
7 copper ion import GO:0015677 9.8 SLC31A1 ATP7B ATP7A
8 cellular copper ion homeostasis GO:0006878 9.76 SLC31A1 ATP7B ATP7A ATOX1
9 copper ion export GO:0060003 9.73 ATP7B ATP7A
10 protein maturation by copper ion transfer GO:0015680 9.71 CCS ATP7B
11 copper ion transmembrane transport GO:0035434 9.56 SLC31A1 ATP7B ATP7A
12 regulation of biological quality GO:0065008 9.51 ATP7B ATP7A
13 response to copper ion GO:0046688 9.5 SOD1 PAM ATP7B ATP7A
14 copper ion transport GO:0006825 9.4 SLC31A1 CP COX17 ATP7B ATP7A ATOX1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 10 SOD1 PAM LOX DBH CP
2 copper chaperone activity GO:0016531 9.78 COX17 ATOX1
3 phosphoglycerate mutase activity GO:0004619 9.76 PGAM4 PGAM1
4 bisphosphoglycerate mutase activity GO:0004082 9.73 PGAM4 PGAM1
5 copper-dependent protein binding GO:0032767 9.71 ATP7A ATOX1
6 superoxide dismutase activity GO:0004784 9.67 SOD1 CCS
7 cuprous ion binding GO:1903136 9.63 COX17 ATP7A ATOX1
8 P-type divalent copper transporter activity GO:0043682 9.62 ATP7A ATP7B
9 copper ion binding GO:0005507 9.62 SOD1 PAM LOX DBH CP COX17
10 P-type monovalent copper transporter activity GO:0140581 9.56 ATP7A ATP7B
11 intramolecular transferase activity, phosphotransferases GO:0016868 9.51 PGAM4 PGAM1
12 copper ion transmembrane transporter activity GO:0005375 9.43 SLC31A1 ATP7B ATP7A
13 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

Sources for Menkes Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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