MCID: MNK001
MIFTS: 63

Menkes Disease

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

Aliases & Classifications for Menkes Disease

MalaCards integrated aliases for Menkes Disease:

Name: Menkes Disease 57 12 76 53 25 54 59 75 13 55 15 40
Menkes Syndrome 57 53 25 59 75 37
Copper Transport Disease 57 12 76 53 25
Steely Hair Disease 57 53 59 75
Kinky Hair Disease 57 53 59 75
Mnk 57 25 59 75
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 73
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 75

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


Classifications:



Summaries for Menkes Disease

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.

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 skin, bone and brain, and related phenotypes are pectus excavatum and intellectual disability

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.

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.

UniProtKB/Swiss-Prot : 75 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 : 76 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 64)
# Related Disease Score Top Affiliating Genes
1 occipital horn syndrome 32.2 ATP7A DBH LOX
2 hair disease 30.3 ATP7A ATP7B
3 wilson disease 27.3 ATOX1 ATP7A ATP7B COMMD1 CP LOX
4 atp7a-related copper transport disorders 12.3
5 acquired kinky hair syndrome 12.1
6 meckel syndrome, type 1 11.5
7 mckusick-kaufman syndrome 11.2
8 pili torti 11.2
9 woolly hair syndrome 11.0
10 meckel syndrome, type 7 11.0
11 muenke syndrome 10.9
12 pili torti, early-onset 10.9
13 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.4 ATP7A ATP7B
14 phacogenic glaucoma 10.2 ELN LOX
15 pelvic organ prolapse 10.1 ELN LOX
16 epilepsy 10.1
17 exfoliation syndrome 10.1 ELN LOX
18 microcytic anemia 10.1
19 leukemia 10.0
20 intracranial aneurysm 9.9 ELN LOX
21 lymphoblastic leukemia 9.9
22 choroiditis 9.9
23 aneurysm 9.9
24 metal metabolism disorder 9.9 ATP7A ATP7B CP
25 colorectal cancer 9.7
26 anemia, autoimmune hemolytic 9.7
27 leukemia, acute lymphoblastic 9.7
28 gastric cancer 9.7
29 hemolytic anemia 9.7
30 scoliosis 9.7
31 pertussis 9.7
32 tetanus 9.7
33 diphtheria 9.7
34 squamous cell carcinoma 9.7
35 essential thrombocythemia 9.7
36 endometriosis 9.7
37 teratocarcinoma 9.7
38 laryngitis 9.7
39 neuronitis 9.7
40 heterotaxy 9.7
41 acute non lymphoblastic leukemia 9.7
42 mounier-kuhn syndrome 9.7
43 amyotrophic lateral sclerosis 1 9.7
44 gastroesophageal reflux 9.7
45 aging 9.7
46 stroke, ischemic 9.7
47 hepatitis 9.7
48 oculocutaneous albinism 9.7
49 x-linked disease 9.7
50 inguinal hernia 9.7

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



Diseases related to Menkes Disease

Symptoms & Phenotypes for Menkes Disease

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
hypothermia
hypertonia
intracranial hemorrhage
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

Human phenotypes related to Menkes Disease:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
6 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
7 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
8 hypothermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002045
9 chorea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002072
10 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
11 inguinal hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000023
12 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
13 bowing of the long bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0006487
14 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
15 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
16 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
17 hypertonia 59 32 Very frequent (99-80%) HP:0001276
18 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
19 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
20 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
21 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
22 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
23 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
24 exostoses 59 32 frequent (33%) Frequent (79-30%) HP:0100777
25 aplasia/hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0010318
26 abnormality of the metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0000944
27 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
28 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
29 wormian bones 59 32 frequent (33%) Frequent (79-30%) HP:0002645
30 prominent occiput 59 32 frequent (33%) Frequent (79-30%) HP:0000269
31 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
32 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
33 atypical scarring of skin 59 32 frequent (33%) Frequent (79-30%) HP:0000987
34 mask-like facies 59 32 frequent (33%) Frequent (79-30%) HP:0000298
35 spontaneous hematomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0007420
36 hypopigmentation of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
37 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
38 osteomyelitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002754
39 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
40 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
41 thickened skin 59 32 frequent (33%) Frequent (79-30%) HP:0001072
42 intracranial hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002170
43 bladder diverticulum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000015
44 arterial stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0100545
45 venous insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0005293
46 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
47 chondrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000934
48 woolly hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002224
49 prolonged neonatal jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0006579
50 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070

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 CP ATOX1 ATP7A ATP7B COMMD1
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,Phase 1,Phase 2 7440-50-8 27099
2
Histidine Approved, Nutraceutical Phase 3,Phase 1,Phase 2 71-00-1 6274
3 Micronutrients Phase 3,Phase 1,Phase 2
4 Trace Elements Phase 3,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 Recruiting NCT00811785 Phase 3 Copper Histidine
2 Copper Histidine Therapy for Menkes Diseases Completed NCT00001262 Phase 1, Phase 2 Copper Histidine
3 Assessing Tissue Remodeling in the Skin Using SFI (Skin Fluorescence Imaging) Recruiting NCT03535077

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

Publications for Menkes Disease

Articles related to Menkes Disease:

(show top 50) (show all 362)
# Title Authors Year
1
Multimodal LA-ICP-MS and nanoSIMS imaging enables copper mapping within photoreceptor megamitochondria in a zebrafish model of Menkes disease. ( 29507920 )
2018
2
Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder. ( 29789304 )
2018
3
Vacuolization in Myeloid and Erythroid Precursors in a child with Menkes Disease. ( 29716882 )
2018
4
Growing skull fracture at birth: a rare presentation of Menkes disease. ( 29853613 )
2018
5
Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report. ( 29419699 )
2018
6
A 37-years-old Menkes disease patient - Residual ATP7A activity and early copper administration as key factors in beneficial treatment. ( 28657131 )
2017
7
Neuroimaging Changes in Menkes Disease, Part 1. ( 28495946 )
2017
8
Neuroimaging in Menkes Disease. ( 29675083 )
2017
9
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. ( 28389643 )
2017
10
Menkes disease: A rare disorder. ( 28955085 )
2017
11
Menkes Disease Mimicking Child Abuse. ( 28318055 )
2017
12
Menkes disease and response to copper histidine: An Indian case series. ( 28298846 )
2017
13
Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease. ( 29687769 )
2017
14
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease. ( 28397151 )
2017
15
[Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease]. ( 28397223 )
2017
16
Neuroimaging Changes in Menkes Disease, Part 2. ( 28495940 )
2017
17
Management of hyperplastic gastric polyp following upper gastrointestinal bleeding in infant with Menkes' disease. ( 28744347 )
2017
18
Reply to the letter: "Neonatal screening for Menkes disease using urine HVA/VMA ratio". ( 27093925 )
2016
19
Menkes disease: what a multidisciplinary approach can do. ( 27574440 )
2016
20
Unusual skin manifestations in a patient with menkes disease. ( 27748070 )
2016
21
Neonatal screening for Menkes disease using urine HVA/VMA ratio. ( 27189264 )
2016
22
Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report. ( 27631241 )
2016
23
Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis. ( 27629586 )
2016
24
The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria. ( 27226607 )
2016
25
Menkes disease: importance of diagnosis with molecular analysis in the neonatal period. ( 26603002 )
2015
26
Editorial Focus on "Autonomous requirements of the Menkes disease protein in the nervous system". ( 26468209 )
2015
27
Menkes disease in affected females: the clinical disease spectrum. ( 25428120 )
2015
28
Autonomous requirements of the Menkes disease protein in the nervous system. ( 26269458 )
2015
29
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells. ( 26347346 )
2015
30
Mottled Mice and Non-Mammalian Models of Menkes Disease. ( 26732058 )
2015
31
Menkes disease with discordant phenotype in female monozygotic twins. ( 26239182 )
2015
32
Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease. ( 25583185 )
2015
33
Development of a therapeutic agent for menkes disease: solubilization of a copper-disulfiram complex. ( 25759057 )
2015
34
Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype. ( 25638460 )
2015
35
Is It a Pathogenic ATP7A Variation and Is It Menkes Disease? ( 26137332 )
2015
36
Menkes disease presenting with epilepsia partialis continua. ( 25506448 )
2014
37
Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease. ( 24556394 )
2014
38
Role of optic microscopy for early diagnosis of Menkes disease. ( 25329126 )
2014
39
Acute posterior fossa epidural hematoma in a newborn infant with Menkes disease. ( 24488163 )
2014
40
[Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk]. ( 24927440 )
2014
41
Menkes disease - An important cause of early onset refractory seizures. ( 24891895 )
2014
42
Imaging features that allow for the recognition of Menkes disease. ( 24863520 )
2014
43
Changes in body weight and height in survivors of Menkes disease. ( 25150085 )
2014
44
Determination of the serum metallothionein (MT)1/2 concentration in patients with Wilson's disease and Menkes disease. ( 25172214 )
2014
45
Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease. ( 24449426 )
2014
46
Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients. ( 25218893 )
2014
47
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients. ( 24919650 )
2014
48
EPR Spectroscopy of a Clinically Active (1:2) Copper(II)-Histidine Complex Used in the Treatment of Menkes Disease: A Fourier Transform Analysis of a Fluid CW-EPR Spectrum. ( 24434671 )
2014
49
Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model. ( 25456742 )
2014
50
Modeling of Menkes disease via human induced pluripotent stem cells. ( 24468087 )
2014

Variations for Menkes Disease

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

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

ClinVar genetic disease variations for Menkes Disease:

6
(show top 50) (show all 323)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP7A NM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu) single nucleotide variant Pathogenic rs151340631 GRCh37 Chromosome X, 77266713: 77266713
2 ATP7A NM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu) single nucleotide variant Pathogenic rs151340631 GRCh38 Chromosome X, 78011216: 78011216
3 ATP7A NM_000052.6(ATP7A): c.2938C> T (p.Arg980Ter) single nucleotide variant Pathogenic rs72554649 GRCh37 Chromosome X, 77284768: 77284768
4 ATP7A NM_000052.6(ATP7A): c.2938C> T (p.Arg980Ter) single nucleotide variant Pathogenic rs72554649 GRCh38 Chromosome X, 78029271: 78029271
5 ATP7A ATP7A, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
6 ATP7A NM_000052.6(ATP7A): c.3056G> A (p.Gly1019Asp) single nucleotide variant Pathogenic rs72554652 GRCh37 Chromosome X, 77284886: 77284886
7 ATP7A NM_000052.6(ATP7A): c.3056G> A (p.Gly1019Asp) single nucleotide variant Pathogenic rs72554652 GRCh38 Chromosome X, 78029389: 78029389
8 ATP7A ATP7A, 8-BP DEL, NT408 deletion Pathogenic
9 ATP7A ATP7A, EX3-4 DEL deletion Pathogenic
10 ATP7A NM_000052.6(ATP7A): c.3911A> G (p.Asn1304Ser) single nucleotide variant Pathogenic rs151340632 GRCh37 Chromosome X, 77298192: 77298192
11 ATP7A NM_000052.6(ATP7A): c.3911A> G (p.Asn1304Ser) single nucleotide variant Pathogenic rs151340632 GRCh38 Chromosome X, 78042694: 78042694
12 ATP7A NM_000052.6(ATP7A): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs151340633 GRCh37 Chromosome X, 77244218: 77244218
13 ATP7A NM_000052.6(ATP7A): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs151340633 GRCh38 Chromosome X, 77988722: 77988722
14 ATP7A NM_000052.6(ATP7A): c.4390A> G (p.Ile1464Val) single nucleotide variant Benign rs2234938 GRCh37 Chromosome X, 77301954: 77301954
15 ATP7A NM_000052.6(ATP7A): c.4390A> G (p.Ile1464Val) single nucleotide variant Benign rs2234938 GRCh38 Chromosome X, 78046457: 78046457
16 ATP7A NM_000052.6(ATP7A): c.2070A> G (p.Glu690=) single nucleotide variant Conflicting interpretations of pathogenicity rs146692150 GRCh37 Chromosome X, 77267069: 77267069
17 ATP7A NM_000052.6(ATP7A): c.2070A> G (p.Glu690=) single nucleotide variant Conflicting interpretations of pathogenicity rs146692150 GRCh38 Chromosome X, 78011572: 78011572
18 ATP7A NM_000052.6(ATP7A): c.1947-1G> A single nucleotide variant Pathogenic rs794729231 GRCh37 Chromosome X, 77266945: 77266945
19 ATP7A NM_000052.6(ATP7A): c.1947-1G> A single nucleotide variant Pathogenic rs794729231 GRCh38 Chromosome X, 78011448: 78011448
20 ATP7A NM_000052.6(ATP7A): c.421_422delGA (p.Glu141Alafs) deletion Pathogenic rs797045397 GRCh37 Chromosome X, 77244038: 77244039
21 ATP7A NM_000052.6(ATP7A): c.421_422delGA (p.Glu141Alafs) deletion Pathogenic rs797045397 GRCh38 Chromosome X, 77988542: 77988543
22 ATP7A NM_000052.6(ATP7A): c.565A> G (p.Ile189Val) single nucleotide variant Benign rs2228447 GRCh37 Chromosome X, 77244182: 77244182
23 ATP7A NM_000052.6(ATP7A): c.565A> G (p.Ile189Val) single nucleotide variant Benign rs2228447 GRCh38 Chromosome X, 77988686: 77988686
24 ATP7A NM_000052.6(ATP7A): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs797045399 GRCh38 Chromosome X, 77988719: 77988719
25 ATP7A NM_000052.6(ATP7A): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs797045399 GRCh37 Chromosome X, 77244215: 77244215
26 ATP7A NM_000052.6(ATP7A): c.876delG (p.Ser293Glnfs) deletion Pathogenic rs797045400 GRCh37 Chromosome X, 77244994: 77244994
27 ATP7A NM_000052.6(ATP7A): c.876delG (p.Ser293Glnfs) deletion Pathogenic rs797045400 GRCh38 Chromosome X, 77989498: 77989498
28 ATP7A NM_000052.6(ATP7A): c.1006G> T (p.Glu336Ter) single nucleotide variant Pathogenic rs797045325 GRCh38 Chromosome X, 77989628: 77989628
29 ATP7A NM_000052.6(ATP7A): c.1006G> T (p.Glu336Ter) single nucleotide variant Pathogenic rs797045325 GRCh37 Chromosome X, 77245124: 77245124
30 ATP7A NM_000052.6(ATP7A): c.1020_1024dupGGGGC (p.Leu342Argfs) duplication Pathogenic rs797045327 GRCh38 Chromosome X, 77989642: 77989646
31 ATP7A NM_000052.6(ATP7A): c.1020_1024dupGGGGC (p.Leu342Argfs) duplication Pathogenic rs797045327 GRCh37 Chromosome X, 77245138: 77245142
32 ATP7A NM_000052.6(ATP7A): c.1225C> T (p.Arg409Ter) single nucleotide variant Pathogenic rs72554636 GRCh37 Chromosome X, 77245343: 77245343
33 ATP7A NM_000052.6(ATP7A): c.1225C> T (p.Arg409Ter) single nucleotide variant Pathogenic rs72554636 GRCh38 Chromosome X, 77989847: 77989847
34 ATP7A NM_000052.6(ATP7A): c.1355delT (p.Val452Glufs) deletion Pathogenic rs797045329 GRCh38 Chromosome X, 77998496: 77998496
35 ATP7A NM_000052.6(ATP7A): c.1355delT (p.Val452Glufs) deletion Pathogenic rs797045329 GRCh37 Chromosome X, 77253993: 77253993
36 ATP7A NM_000052.6(ATP7A): c.1460C> A (p.Ser487Ter) single nucleotide variant Pathogenic rs797045330 GRCh38 Chromosome X, 77998601: 77998601
37 ATP7A NM_000052.6(ATP7A): c.1460C> A (p.Ser487Ter) single nucleotide variant Pathogenic rs797045330 GRCh37 Chromosome X, 77254098: 77254098
38 ATP7A NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143907597 GRCh37 Chromosome X, 77254154: 77254154
39 ATP7A NM_000052.6(ATP7A): c.1516A> G (p.Ile506Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143907597 GRCh38 Chromosome X, 77998657: 77998657
40 ATP7A NM_000052.6(ATP7A): c.1544-1G> A single nucleotide variant Pathogenic rs797045331 GRCh38 Chromosome X, 78003072: 78003072
41 ATP7A NM_000052.6(ATP7A): c.1544-1G> A single nucleotide variant Pathogenic rs797045331 GRCh37 Chromosome X, 77258569: 77258569
42 ATP7A NM_000052.6(ATP7A): c.1639C> T (p.Arg547Ter) single nucleotide variant Pathogenic rs797045332 GRCh38 Chromosome X, 78003168: 78003168
43 ATP7A NM_000052.6(ATP7A): c.1639C> T (p.Arg547Ter) single nucleotide variant Pathogenic rs797045332 GRCh37 Chromosome X, 77258665: 77258665
44 ATP7A NM_000052.6(ATP7A): c.1667_1668delTA (p.Ile556Argfs) deletion Pathogenic rs797045333 GRCh37 Chromosome X, 77258693: 77258694
45 ATP7A NM_000052.6(ATP7A): c.1667_1668delTA (p.Ile556Argfs) deletion Pathogenic rs797045333 GRCh38 Chromosome X, 78003196: 78003197
46 ATP7A NM_000052.6(ATP7A): c.1782C> G (p.Tyr594Ter) single nucleotide variant Pathogenic rs797045336 GRCh38 Chromosome X, 78009176: 78009176
47 ATP7A NM_000052.6(ATP7A): c.1782C> G (p.Tyr594Ter) single nucleotide variant Pathogenic rs797045336 GRCh37 Chromosome X, 77264673: 77264673
48 ATP7A NM_000052.6(ATP7A): c.1831G> T (p.Glu611Ter) single nucleotide variant Pathogenic rs797045337 GRCh38 Chromosome X, 78009225: 78009225
49 ATP7A NM_000052.6(ATP7A): c.1831G> T (p.Glu611Ter) single nucleotide variant Pathogenic rs797045337 GRCh37 Chromosome X, 77264722: 77264722
50 ATP7A NM_000052.6(ATP7A): c.1870-1G> C single nucleotide variant Pathogenic rs797045338 GRCh38 Chromosome X, 78011175: 78011175

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 ATP7A ATP7B PAM

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.88 CP DBH LOX PAM
2 ion transport GO:0006811 9.85 ATOX1 ATP7A ATP7B CP
3 extracellular matrix organization GO:0030198 9.69 ATP7A ELN LOX
4 antimicrobial humoral response GO:0019730 9.59 ATOX1 ATP7A
5 blood vessel development GO:0001568 9.58 ATP7A LOX
6 lactation GO:0007595 9.58 ATP7A ATP7B PAM
7 gluconeogenesis GO:0006094 9.57 PGAM4 PGK1
8 collagen fibril organization GO:0030199 9.56 ATP7A LOX
9 glycolytic process GO:0006096 9.54 PGAM4 PGK1
10 blood vessel remodeling GO:0001974 9.52 ATP7A DBH
11 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.49 ATP7A ATP7B
12 elastic fiber assembly GO:0048251 9.48 ATP7A LOX
13 copper ion import GO:0015677 9.46 ATP7A ATP7B
14 copper ion transmembrane transport GO:0035434 9.43 ATOX1 ATP7B
15 metal ion transport GO:0030001 9.43 ATOX1 ATP7A ATP7B
16 intracellular copper ion transport GO:0015680 9.37 ATOX1 ATP7B
17 response to copper ion GO:0046688 9.33 ATP7A ATP7B PAM
18 copper ion export GO:0060003 9.32 ATP7A ATP7B
19 cellular copper ion homeostasis GO:0006878 9.13 ATOX1 ATP7A ATP7B
20 copper ion transport GO:0006825 8.92 ATOX1 ATP7A ATP7B CP

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 CP DBH LOX PAM
2 monooxygenase activity GO:0004497 9.49 DBH PAM
3 L-ascorbic acid binding GO:0031418 9.46 DBH PAM
4 cation-transporting ATPase activity GO:0019829 9.4 ATP7A ATP7B
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen GO:0016715 9.37 DBH PAM
6 copper-dependent protein binding GO:0032767 9.32 ATOX1 ATP7A
7 copper-exporting ATPase activity GO:0004008 9.26 ATP7A ATP7B
8 copper ion binding GO:0005507 9.23 ATOX1 ATP7A ATP7B COMMD1 CP DBH
9 copper-transporting ATPase activity GO:0043682 9.16 ATP7A ATP7B
10 copper ion transmembrane transporter activity GO:0005375 9.13 ATOX1 ATP7A ATP7B
11 metal ion binding GO:0046872 10.03 ATOX1 ATP7A ATP7B COMMD1 CP DBH

Sources for Menkes Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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