MNK
MCID: MNK001
MIFTS: 64

Menkes Disease (MNK)

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

Aliases & Classifications for Menkes Disease

MalaCards integrated aliases for Menkes Disease:

Name: Menkes Disease 57 12 73 20 43 53 58 72 13 54 15 39
Menkes Syndrome 57 20 43 58 72 36
Copper Transport Disease 57 12 73 20 43
Menkes Kinky-Hair Syndrome 12 29 6
Steely Hair Disease 57 20 72
Kinky Hair Disease 57 20 72
Mnk 57 43 72
Menkes Kinky Hair Syndrome 44 70
Steely Hair Syndrome 12 43
Menkea Syndrome 20 43
Mk 57 43
Md 58 3
X-Linked Copper Deficiency 43
Copper Transport Disorders 29
Menkes Kinky Hair Disease 58
Hypocupremia, Congenital 43
Kinky Hair Syndrome 43

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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
Onset and clinical course death in childhood


Classifications:

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


Summaries for Menkes Disease

GARD : 20 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 Copper Supplement have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and liver, and related phenotypes are spasticity and developmental regression

MedlinePlus Genetics : 43 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® : 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 05-Apr-2021)

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 : 72 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 : 73 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 199)
# Related Disease Score Top Affiliating Genes
1 occipital horn syndrome 31.6 PAM LOX ELN DBH CP ATP7B
2 disorder of copper metabolism 31.5 ATP7B ATP7A
3 cutis laxa 30.4 LOX ELN ATP7A
4 spinal muscular atrophy, distal, x-linked 3 30.2 PAM DBH CP ATP7B ATP7A ATOX1
5 bladder diverticulum 30.1 LOX ELN DBH CP ATP7A
6 wilson disease 29.9 SOD1 LOX DNAH8 DBH CP COMMD1
7 inherited metabolic disorder 29.8 CP ATP7B ATP7A
8 deficiency anemia 29.3 SOD1 PGK1 CP COMMD1 ATP7B ATP7A
9 acquired kinky hair syndrome 11.2
10 familial woolly hair syndrome 11.0
11 pili torti, early-onset 11.0
12 hypotonia 10.5
13 pili torti 10.4
14 hair disease 10.4
15 atp7a-related copper transport disorders 10.3
16 west syndrome 10.3
17 ureteric orifice cancer 10.3 LOX ELN
18 leukemia, acute myeloid 10.3
19 dopamine beta-hydroxylase deficiency 10.2 DBH ATP7A ATOX1
20 epilepsy 10.2
21 aneurysm 10.2
22 cerebral atrophy 10.2
23 rubella 10.2
24 congenital rubella 10.2
25 rare neurodegenerative disease 10.2
26 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 PAM ATP7B ATP7A
27 x-linked recessive disease 10.2
28 seizure disorder 10.2
29 autosomal recessive cutis laxa type ii classic type 10.2 ELN ATP7A
30 meningitis and encephalitis 10.2 SOD1 CP
31 mansonelliasis 10.2 IGF2R ATP7A
32 status epilepticus 10.2
33 myeloid leukemia 10.1
34 eales disease 10.1 SOD1 CP
35 postcholecystectomy syndrome 10.1 SOD1 CCK
36 ataxia and polyneuropathy, adult-onset 10.1
37 autosomal recessive disease 10.1
38 inguinal hernia 10.1
39 urinary tract infection 10.1
40 ataxia-telangiectasia 10.1
41 leukoencephalopathy, hereditary diffuse, with spheroids 10.1
42 hypoascorbemia 10.1
43 melanosis, neurocutaneous 10.1
44 hydronephrosis 10.1
45 protein-energy malnutrition 10.1
46 telangiectasis 10.1
47 gingival overgrowth 10.1
48 bartter disease 10.1
49 metal metabolism disorder 10.0 CP COMMD1 ATP7B ATP7A ATOX1
50 leukemia 10.0

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 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
2 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
3 inguinal hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000023
4 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
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 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
9 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
10 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
11 hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0005599
12 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
13 intracranial hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002170
14 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
15 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
16 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
17 woolly hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002224
18 seizure 31 hallmark (90%) HP:0001250
19 hypotonia 31 hallmark (90%) HP:0001252
20 vascular dilatation 31 hallmark (90%) HP:0002617
21 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
22 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
23 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
24 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
25 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
26 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
27 abnormality of the metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0000944
28 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
29 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
30 atypical scarring of skin 58 31 frequent (33%) Frequent (79-30%) HP:0000987
31 mask-like facies 58 31 frequent (33%) Frequent (79-30%) HP:0000298
32 arterial stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0100545
33 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
34 venous insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0005293
35 wormian bones 58 31 frequent (33%) Frequent (79-30%) HP:0002645
36 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
37 prolonged neonatal jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0006579
38 exostoses 58 31 frequent (33%) Frequent (79-30%) HP:0100777
39 abnormal carotid artery morphology 31 frequent (33%) HP:0005344
40 hypothermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002045
41 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
42 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
43 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
44 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
45 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
46 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
47 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
48 bladder diverticulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000015
49 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
50 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hypothermia
intracranial hemorrhage
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 (Updated 05-Apr-2021)

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 10.06 ATOX1 ATP7A COMMD1 CP DBH EPS15
2 homeostasis/metabolism MP:0005376 10.03 ADCYAP1 ATOX1 ATP7A ATP7B CCK COMMD1
3 hematopoietic system MP:0005397 10 ADCYAP1 ATP7A ATP7B CCK CP EPS15
4 liver/biliary system MP:0005370 9.61 ADCYAP1 ATOX1 ATP7A ATP7B COMMD1 CP
5 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 Copper Supplement Phase 3
3 Trace Elements 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 Completed NCT00811785 Phase 3 Copper Histidine
2 Early Copper Histidine Therapy in Menkes Disease Completed NCT00001262 Phase 1, Phase 2 Copper Histidine
3 Copper Histidinate Treatment for Menkes Disease Available NCT04074512 Copper Histidinate
4 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
Brain, Skin, Liver, Kidney, Temporal Lobe, Bone, Heart

Publications for Menkes Disease

Articles related to Menkes Disease:

(show top 50) (show all 917)
# Title Authors PMID Year
1
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. 61 54 6 57
14635105 2003
2
Lethal neonatal Menkes' disease with severe vasculopathy and fractures. 57 6 61
9894833 1998
3
Early development of occipital horns in a classical Menkes patient. 6 57
15372525 2004
4
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 54 61 6
20170900 2010
5
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. 6 54 61
19194885 2009
6
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. 61 57 54
17717039 2007
7
A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation. 6 61 54
12221109 2002
8
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. 61 6 54
11241493 2001
9
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. 61 54 6
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. 61 57 54
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). 61 54 57
9668172 1998
12
Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. 57 54 61
9215672 1997
13
Identification of point mutations in 41 unrelated patients affected with Menkes disease. 54 61 6
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. 57 54 61
8947031 1996
15
A murine model of Menkes disease reveals a physiological function of metallothionein. 54 61 57
8640230 1996
16
Diverse mutations in patients with Menkes disease often lead to exon skipping. 54 61 6
7977350 1994
17
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. 57 61 54
7842019 1994
18
Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice. 57 61 54
7959788 1994
19
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. 61 54 57
8490659 1993
20
Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. 57 61 54
2035533 1991
21
Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice. 57 61
32381719 2020
22
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families. 6 61
28451781 2017
23
Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia. 6 61
26117549 2015
24
Menkes disease in affected females: the clinical disease spectrum. 61 57
25428120 2015
25
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy. 61 6
22210628 2012
26
Splice site mutations in the ATP7A gene. 61 6
21494555 2011
27
Twenty-five novel mutations including duplications in the ATP7A gene. 61 6
21208200 2011
28
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. 6 61
20652413 2010
29
Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. 6 61
16826513 2006
30
Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy? 57 61
16630173 2006
31
ATP7A-Related Copper Transport Disorders 6 61
20301586 2003
32
Pamidronate treatment improves bone mineral density in children with Menkes disease. 57 61
12408189 2002
33
Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. 61 6
11350187 2001
34
Clinical expression of Menkes disease in a girl with X;13 translocation. 61 57
10588844 1999
35
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. 61 6
10319589 1999
36
Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease. 57 61
9788559 1998
37
A Golgi localization signal identified in the Menkes recombinant protein. 57 61
9668166 1998
38
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. 61 57
9511979 1998
39
Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. 61 57
9321757 1997
40
Menkes disease: recent advances and new aspects. 57 61
9138147 1997
41
Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. 61 57
8914740 1996
42
Early copper-histidine treatment for Menkes disease. 57 61
8528242 1996
43
First trimester prenatal diagnosis of Menkes disease by DNA analysis. 61 57
7815418 1994
44
Copper-histidine therapy for Menkes disease. 61 57
8229500 1993
45
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. 57 61
8099605 1993
46
Isolation of a partial candidate gene for Menkes disease by positional cloning. 61 57
8490647 1993
47
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. 61 57
8490646 1993
48
Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient. 57 61
1427884 1992
49
Multipoint linkage analysis in Menkes disease. 61 57
1570830 1992
50
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. 61 57
1348049 1992

Variations for Menkes Disease

ClinVar genetic disease variations for Menkes Disease:

6 (show top 50) (show all 379)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP7A NM_000052.7(ATP7A):c.1947-1G>A SNV Pathogenic 202206 rs794729231 GRCh37: X:77266945-77266945
GRCh38: X:78011448-78011448
2 ATP7A NM_000052.7(ATP7A):c.1946+5G>A SNV Pathogenic 210406 rs797045341 GRCh37: X:77266754-77266754
GRCh38: X:78011257-78011257
3 ATP7A NM_000052.7(ATP7A):c.2499-1_2504dup Duplication Pathogenic 210430 rs797045358 GRCh37: X:77271248-77271249
GRCh38: X:78015751-78015752
4 ATP7A NM_000052.7(ATP7A):c.2405_2406+1delinsT Indel Pathogenic 210427 rs797045356 GRCh37: X:77268608-77268610
GRCh38: X:78013111-78013113
5 ATP7A NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg) SNV Pathogenic 210464 rs797045388 GRCh37: X:77298201-77298201
GRCh38: X:78042703-78042703
6 ATP7A NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs) Duplication Pathogenic 210409 rs797045343 GRCh37: X:77266975-77266976
GRCh38: X:78011478-78011479
7 ATP7A NM_000052.6(ATP7A):c.3152_3156delACGGAins4 Indel Pathogenic 210445 GRCh37: X:77286938-77286942
GRCh38: X:78031440-78031444
8 ATP7A NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg) SNV Pathogenic 210467 rs797045390 GRCh37: X:77298224-77298224
GRCh38: X:78042726-78042726
9 ATP7A NM_000052.7(ATP7A):c.3124del (p.Val1042fs) Deletion Pathogenic 210442 rs797045368 GRCh37: X:77286909-77286909
GRCh38: X:78031411-78031411
10 ATP7A NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg) SNV Pathogenic 210424 rs797045354 GRCh37: X:77268560-77268560
GRCh38: X:78013063-78013063
11 ATP7A NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter) SNV Pathogenic 210451 rs797045377 GRCh37: X:77289187-77289187
GRCh38: X:78033689-78033689
12 ATP7A NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs) Deletion Pathogenic 210396 rs797045333 GRCh37: X:77258692-77258693
GRCh38: X:78003195-78003196
13 ATP7A NM_000052.7(ATP7A):c.2645dup (p.Ala882_Lys883insTer) Duplication Pathogenic 210433 rs797045361 GRCh37: X:77275758-77275759
GRCh38: X:78020261-78020262
14 ATP7A NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter) SNV Pathogenic 210454 rs797045379 GRCh37: X:77289310-77289310
GRCh38: X:78033812-78033812
15 ATP7A NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) SNV Pathogenic 210399 rs797045336 GRCh37: X:77264673-77264673
GRCh38: X:78009176-78009176
16 ATP7A NM_000052.7(ATP7A):c.4132dup (p.Met1378fs) Duplication Pathogenic 210472 rs797045395 GRCh37: X:77300974-77300975
GRCh38: X:78045477-78045478
17 ATP7A NM_000052.7(ATP7A):c.2173-2A>G SNV Pathogenic 210417 rs797045349 GRCh37: X:77268374-77268374
GRCh38: X:78012877-78012877
18 ATP7A NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter) SNV Pathogenic 210414 rs797045346 GRCh37: X:77267159-77267159
GRCh38: X:78011662-78011662
19 ATP7A NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) SNV Pathogenic 11784 rs72554649 GRCh37: X:77284768-77284768
GRCh38: X:78029271-78029271
20 ATP7A NM_000052.7(ATP7A):c.1707+1G>A SNV Pathogenic 11786 rs1569549753 GRCh37: X:77258734-77258734
GRCh38: X:78003237-78003237
21 ATP7A NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) SNV Pathogenic 11788 rs72554652 GRCh37: X:77284886-77284886
GRCh38: X:78029389-78029389
22 ATP7A NM_000052.7(ATP7A):c.408_415del (p.Asn137fs) Deletion Pathogenic 11790 rs1569549587 GRCh37: X:77244025-77244032
GRCh38: X:77988529-77988536
23 ATP7A ATP7A, EX3-4 DEL Deletion Pathogenic 11791 GRCh37:
GRCh38:
24 ATP7A NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly) Indel Pathogenic 210443 rs797045369 GRCh37: X:77286913-77286917
GRCh38: X:78031415-78031419
25 ATP7A NM_000052.7(ATP7A):c.3069_3083del (p.Ile1024_Gly1028del) Deletion Pathogenic 210440 rs797045366 GRCh37: X:77284897-77284911
GRCh38: X:78029400-78029414
26 ATP7A NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) SNV Pathogenic 210402 rs797045339 GRCh37: X:77266677-77266677
GRCh38: X:78011180-78011180
27 ATP7A NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs) Indel Pathogenic 210460 rs797045384 GRCh37: X:77296205-77296206
GRCh38: X:78040707-78040708
28 ATP7A NM_000052.7(ATP7A):c.876del (p.Ser293fs) Deletion Pathogenic 210479 rs797045400 GRCh37: X:77244994-77244994
GRCh38: X:77989498-77989498
29 ATP7A NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter) SNV Pathogenic 210446 rs797045372 GRCh37: X:77287071-77287071
GRCh38: X:78031573-78031573
30 ATP7A NM_000052.7(ATP7A):c.1355del (p.Val452fs) Deletion Pathogenic 210391 rs797045329 GRCh37: X:77253993-77253993
GRCh38: X:77998496-77998496
31 ATP7A NM_000052.7(ATP7A):c.4005+1G>T SNV Pathogenic 210468 rs797045391 GRCh37: X:77298287-77298287
GRCh38: X:78042789-78042789
32 ATP7A NM_000052.7(ATP7A):c.3340del (p.Val1114fs) Deletion Pathogenic 210449 rs797045375 GRCh37: X:77289148-77289148
GRCh38: X:78033650-78033650
33 ATP7A NM_000052.7(ATP7A):c.4123+1G>A SNV Pathogenic 210470 rs797045393 GRCh37: X:77298933-77298933
GRCh38: X:78043435-78043435
34 ATP7A NM_000052.7(ATP7A):c.1544-1G>A SNV Pathogenic 210394 rs797045331 GRCh37: X:77258569-77258569
GRCh38: X:78003072-78003072
35 ATP7A NM_000052.7(ATP7A):c.1947-1G>C SNV Pathogenic 210407 rs794729231 GRCh37: X:77266945-77266945
GRCh38: X:78011448-78011448
36 ATP7A NM_000052.7(ATP7A):c.2499-1G>A SNV Pathogenic 210431 rs797045359 GRCh37: X:77271250-77271250
GRCh38: X:78015753-78015753
37 ATP7A NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) SNV Pathogenic 210438 rs72554650 GRCh37: X:77284786-77284786
GRCh38: X:78029289-78029289
38 ATP7A NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs) Duplication Pathogenic 210388 rs797045327 GRCh37: X:77245136-77245137
GRCh38: X:77989640-77989641
39 ATP7A NM_000052.7(ATP7A):c.3920del (p.Pro1307fs) Deletion Pathogenic 210465 rs797045389 GRCh37: X:77298198-77298198
GRCh38: X:78042700-78042700
40 ATP7A NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu) SNV Pathogenic 210458 rs797045382 GRCh37: X:77296194-77296194
GRCh38: X:78040696-78040696
41 ATP7A NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter) SNV Pathogenic 210400 rs797045337 GRCh37: X:77264722-77264722
GRCh38: X:78009225-78009225
42 ATP7A NM_000052.7(ATP7A):c.2916+3_2916+6del Deletion Pathogenic 210437 rs797045364 GRCh37: X:77276577-77276580
GRCh38: X:78021080-78021083
43 ATP7A NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) SNV Pathogenic 210418 rs72554644 GRCh37: X:77268382-77268382
GRCh38: X:78012885-78012885
44 ATP7A NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter) SNV Pathogenic 210421 rs797045351 GRCh37: X:77268390-77268390
GRCh38: X:78012893-78012893
45 ATP7A NM_000052.7(ATP7A):c.4226+5G>A SNV Pathogenic 210476 rs797045398 GRCh37: X:77301074-77301074
GRCh38: X:78045577-78045577
46 ATP7A NM_000052.7(ATP7A):c.3288C>A (p.Cys1096Ter) SNV Pathogenic 210447 rs797045373 GRCh37: X:77287074-77287074
GRCh38: X:78031576-78031576
47 ATP7A NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter) SNV Pathogenic 210478 rs797045399 GRCh37: X:77244215-77244215
GRCh38: X:77988719-77988719
48 ATP7A NM_000052.7(ATP7A):c.2302del (p.Ala768fs) Deletion Pathogenic 210423 rs797045353 GRCh37: X:77268505-77268505
GRCh38: X:78013008-78013008
49 ATP7A NM_000052.7(ATP7A):c.1946+1G>C SNV Pathogenic 210405 rs797045340 GRCh37: X:77266750-77266750
GRCh38: X:78011253-78011253
50 ATP7A NM_000052.7(ATP7A):c.2395_2405delinsAGCATC (p.His799fs) Indel Pathogenic 210426 rs797045355 GRCh37: X:77268598-77268608
GRCh38: X:78013101-78013111

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

72 (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 9.91 SOD1 PGAM1 PAM LOX ELN DBH
2 secretory granule GO:0030141 9.54 SOD1 PAM ATP7A
3 secretory granule membrane GO:0030667 9.5 PAM IGF2R DBH
4 trans-Golgi network GO:0005802 9.46 PAM IGF2R ATP7B ATP7A
5 trans-Golgi network transport vesicle GO:0030140 9.4 IGF2R ATP7A
6 extracellular space GO:0005615 9.28 SOD1 PGK1 PAM LOX IGF2R DBH
7 perikaryon GO:0043204 9.26 PAM CCK ATP7A ADCYAP1

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 9.67 SOD1 DBH ATP7A
3 cellular response to cadmium ion GO:0071276 9.58 SOD1 MT2A ATP7A
4 muscle cell cellular homeostasis GO:0046716 9.57 SOD1 LOX
5 response to metal ion GO:0010038 9.55 MTF1 MT2A
6 inorganic cation transmembrane transport GO:0098662 9.54 ATP7B ATP7A
7 glycolytic process GO:0006096 9.54 PGK1 PGAM4 PGAM1
8 detoxification of copper ion GO:0010273 9.52 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 9.48 LOX ATP7A
12 copper ion import GO:0015677 9.46 ATP7B ATP7A
13 response to copper ion GO:0046688 9.46 SOD1 PAM ATP7B ATP7A
14 divalent inorganic cation transport GO:0072511 9.43 ATP7B ATP7A
15 copper ion export GO:0060003 9.43 ATP7B ATP7A ATOX1
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 9.92 SOD1 PAM LOX DBH CP
3 chaperone binding GO:0051087 9.69 SOD1 CP ATP7A
4 L-ascorbic acid binding GO:0031418 9.54 PAM DBH
5 cation-transporting ATPase activity GO:0019829 9.49 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 copper ion transmembrane transporter activity GO:0005375 9.43 ATP7B ATP7A
9 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 9.4 PAM DBH
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....