MCID: MNK001
MIFTS: 64

Menkes Disease

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

Aliases & Classifications for Menkes Disease

MalaCards integrated aliases for Menkes Disease:

Name: Menkes Disease 53 12 72 49 24 50 55 71 36 13 51 14
Copper Transport Disease 53 12 72 49 24
Menkes Syndrome 53 49 24 55 71
Steely Hair Disease 53 49 55 71
Kinky Hair Disease 53 49 55 71
Mnk 53 24 55 71
Steely Hair Syndrome 12 24 55
Mk 53 24 55
Menkes Kinky-Hair Syndrome 12 28
X-Linked Copper Deficiency 24 55
Menkes Kinky Hair Syndrome 41 69
Kinky Hair Syndrome 24 55
Menkea Syndrome 49 24
Md 55 3
Copper Transport Disorders 28
Hypocupremia, Congenital 24
Trichopoliodystrophy 55
Mk; Mnk 53
Mnkd 71

Characteristics:

Orphanet epidemiological data:

55
menkes disease
Inheritance: X-linked recessive; Age of onset: Neonatal; Age of death: early childhood;

OMIM:

53
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:
Mortality/Aging death in childhood
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Menkes Disease

NINDS : 50 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 copper transport disease, is related to occipital horn syndrome and hair disease, and has symptoms including fatigue, seizures and nausea and vomiting. 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 Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are cardiovascular system and homeostasis/metabolism

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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. Last updated: 7/4/2017

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.

Genetics Home Reference : 24 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.

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 72)
# Related Disease Score Top Affiliating Genes
1 occipital horn syndrome 32.1 ATP7A DBH LOX
2 hair disease 30.1 ATP7A ATP7B
3 aneurysm 29.4 ELN LOX
4 wilson disease 28.5 ATOX1 ATP7A ATP7B COMMD1 CP LOX
5 atp7a-related copper transport disorders 12.3
6 acquired kinky hair syndrome 12.1
7 meckel syndrome, type 1 11.5
8 mckusick-kaufman syndrome 11.2
9 pili torti 11.2
10 woolly hair syndrome 11.0
11 meckel syndrome, type 7 11.0
12 muenke syndrome 10.9
13 pili torti, early-onset 10.9
14 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.3 ATP7A ATP7B
15 epilepsy 10.1
16 phacogenic glaucoma 10.1 ELN LOX
17 microcytic anemia 10.1
18 pelvic organ prolapse 10.1 ELN LOX
19 exfoliation syndrome 10.0 ELN LOX
20 leukemia 10.0
21 intracranial aneurysm 9.9 ELN LOX
22 orthostatic intolerance 9.9 DBH ELN
23 lymphoblastic leukemia 9.9
24 choroiditis 9.9
25 metal metabolism disorder 9.8 ATP7A ATP7B CP
26 beta-adrenergic stimulation, response to 9.7
27 colorectal cancer 9.7
28 anemia, autoimmune hemolytic 9.7
29 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
30 gastric cancer 9.7
31 hemolytic anemia 9.7
32 scoliosis 9.7
33 ciliopathy 9.7
34 pertussis 9.7
35 tetanus 9.7
36 diphtheria 9.7
37 squamous cell carcinoma 9.7
38 essential thrombocythemia 9.7
39 endometriosis 9.7
40 teratocarcinoma 9.7
41 laryngitis 9.7
42 neuronitis 9.7
43 acute non lymphoblastic leukemia 9.7
44 heterotaxy 9.7
45 mounier-kuhn syndrome 9.7
46 xp22.13p22.2 duplication syndrome 9.7
47 xq12-q13.3 duplication syndrome 9.7
48 amyotrophic lateral sclerosis 1 9.7
49 gastroesophageal reflux 9.7
50 blood group--diego system 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:

53
Neurologic Central Nervous System:
seizures
hypothermia
hypertonia
intracranial hemorrhage
mental retardation
more
Head And Neck Head:
microcephaly
brachycephaly
wormian bones

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

Skeletal:
joint laxity
osteoporosis

Growth Height:
short stature

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:

55 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
2 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 nausea and vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002017
4 muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0001324
5 dry skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000958
6 pectus excavatum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000767
7 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
8 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
9 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
10 hypothermia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002045
11 chorea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002072
12 developmental regression 55 31 hallmark (90%) Very frequent (99-80%) HP:0002376
13 inguinal hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000023
14 behavioral abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000708
15 bowing of the long bones 55 31 occasional (7.5%) Occasional (29-5%) HP:0006487
16 umbilical hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001537
17 malabsorption 55 31 frequent (33%) Frequent (79-30%) HP:0002024
18 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
19 hypertonia 55 31 Very frequent (99-80%) HP:0001276
20 feeding difficulties in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008872
21 osteoporosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000939
22 full cheeks 55 31 frequent (33%) Frequent (79-30%) HP:0000293
23 hypoglycemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001943
24 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
25 exostoses 55 31 frequent (33%) Frequent (79-30%) HP:0100777
26 aplasia/hypoplasia of the abdominal wall musculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0010318
27 abnormality of the metaphysis 55 31 frequent (33%) Frequent (79-30%) HP:0000944
28 narrow chest 55 31 frequent (33%) Frequent (79-30%) HP:0000774
29 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
30 wormian bones 55 31 frequent (33%) Frequent (79-30%) HP:0002645
31 prominent occiput 55 31 frequent (33%) Frequent (79-30%) HP:0000269
32 intrauterine growth retardation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001511
33 atypical scarring of skin 55 31 frequent (33%) Frequent (79-30%) HP:0000987
34 mask-like facies 55 31 frequent (33%) Frequent (79-30%) HP:0000298
35 spontaneous hematomas 55 31 occasional (7.5%) Occasional (29-5%) HP:0007420
36 hypopigmentation of hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0005599
37 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
38 osteomyelitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002754
39 recurrent fractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002757
40 sepsis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100806
41 thickened skin 55 31 frequent (33%) Frequent (79-30%) HP:0001072
42 intracranial hemorrhage 55 31 hallmark (90%) Very frequent (99-80%) HP:0002170
43 bladder diverticulum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000015
44 arterial stenosis 55 31 frequent (33%) Frequent (79-30%) HP:0100545
45 abnormality of the palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000174
46 venous insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0005293
47 hyperextensible skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000974
48 chondrocalcinosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000934
49 woolly hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002224
50 prolonged neonatal jaundice 55 31 frequent (33%) Frequent (79-30%) HP:0006579

UMLS symptoms related to Menkes Disease:


seizures

MGI Mouse Phenotypes related to Menkes Disease:

43
# 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 DBH LOX PAM ATOX1 ATP7A ATP7B
3 liver/biliary system MP:0005370 9.35 ATOX1 ATP7A ATP7B COMMD1 CP
4 pigmentation MP:0001186 8.92 ATOX1 ATP7A ATP7B CP

Drugs & Therapeutics for Menkes Disease

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Copper Approved, Investigational Phase 3,Phase 1,Phase 2 7440-50-8 27099
2 Micronutrients Phase 3,Phase 1,Phase 2
3 Trace Elements Phase 3,Phase 1,Phase 2
4 histidine Nutraceutical 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

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
2 Copper Transport Disorders 28

Anatomical Context for Menkes Disease

MalaCards organs/tissues related to Menkes Disease:

38
Skin, Bone, Brain, Kidney, Liver, Eye, Temporal Lobe

Publications for Menkes Disease

Articles related to Menkes Disease:

(show top 50) (show all 353)
# Title Authors Year
1
Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report. ( 29419699 )
2018
2
Menkes disease and response to copper histidine: An Indian case series. ( 28298846 )
2017
3
[Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease]. ( 28397223 )
2017
4
Management of hyperplastic gastric polyp following upper gastrointestinal bleeding in infant with Menkes' disease. ( 28744347 )
2017
5
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease. ( 28397151 )
2017
6
Neuroimaging Changes in Menkes Disease, Part 2. ( 28495940 )
2017
7
A 37-years-old Menkes disease patient - Residual ATP7A activity and early copper administration as key factors in beneficial treatment. ( 28657131 )
2017
8
Neuroimaging Changes in Menkes Disease, Part 1. ( 28495946 )
2017
9
Menkes Disease Mimicking Child Abuse. ( 28318055 )
2017
10
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. ( 28389643 )
2017
11
Menkes disease: A rare disorder. ( 28955085 )
2017
12
Neonatal screening for Menkes disease using urine HVA/VMA ratio. ( 27189264 )
2016
13
Unusual skin manifestations in a patient with menkes disease. ( 27748070 )
2016
14
Menkes disease: what a multidisciplinary approach can do. ( 27574440 )
2016
15
Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report. ( 27631241 )
2016
16
Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis. ( 27629586 )
2016
17
Reply to the letter: "Neonatal screening for Menkes disease using urine HVA/VMA ratio". ( 27093925 )
2016
18
The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria. ( 27226607 )
2016
19
Menkes disease: importance of diagnosis with molecular analysis in the neonatal period. ( 26603002 )
2015
20
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells. ( 26347346 )
2015
21
Mottled Mice and Non-Mammalian Models of Menkes Disease. ( 26732058 )
2015
22
Is It a Pathogenic ATP7A Variation and Is It Menkes Disease? ( 26137332 )
2015
23
Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype. ( 25638460 )
2015
24
Menkes disease with discordant phenotype in female monozygotic twins. ( 26239182 )
2015
25
Menkes disease in affected females: the clinical disease spectrum. ( 25428120 )
2015
26
Autonomous requirements of the Menkes disease protein in the nervous system. ( 26269458 )
2015
27
Editorial Focus on "Autonomous requirements of the Menkes disease protein in the nervous system". ( 26468209 )
2015
28
Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease. ( 25583185 )
2015
29
Development of a therapeutic agent for menkes disease: solubilization of a copper-disulfiram complex. ( 25759057 )
2015
30
Imaging features that allow for the recognition of Menkes disease. ( 24863520 )
2014
31
Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients. ( 25218893 )
2014
32
Insight into the gas-phase structure of a copper(II) L-histidine complex, the agent used to treat Menkes disease. ( 24528202 )
2014
33
Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment. ( 25281031 )
2014
34
Menkes disease - An important cause of early onset refractory seizures. ( 24891895 )
2014
35
A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease. ( 24630286 )
2014
36
Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice - an animal model of Menkes disease. ( 25247420 )
2014
37
Menkes disease presenting with epilepsia partialis continua. ( 25506448 )
2014
38
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients. ( 24919650 )
2014
39
[Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk]. ( 24927440 )
2014
40
Epilepsy in children with menkes disease: a systematic review of literature. ( 25038123 )
2014
41
Menkes disease in Korea: ATP7A mutation and epilepsy phenotype. ( 24882692 )
2014
42
Role of optic microscopy for early diagnosis of Menkes disease. ( 25329126 )
2014
43
Acute posterior fossa epidural hematoma in a newborn infant with Menkes disease. ( 24488163 )
2014
44
Copper mediated neurological disorder: Visions into amyotrophic lateral sclerosis, Alzheimer and Menkes disease. ( 24975171 )
2014
45
Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease. ( 24556394 )
2014
46
Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model. ( 25456742 )
2014
47
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease. ( 25771438 )
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
Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease. ( 24449426 )
2014
50
Changes in body weight and height in survivors of Menkes disease. ( 25150085 )
2014

Variations for Menkes Disease

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

71 (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 93)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP7A ATP7A, 8-BP DEL, NT408 deletion Pathogenic
2 ATP7A ATP7A, EX3-4 DEL deletion Pathogenic
3 ATP7A NM_000052.6(ATP7A): c.1910C> T (p.Ser637Leu) single nucleotide variant Pathogenic rs151340631 GRCh37 Chromosome X, 77266713: 77266713
4 ATP7A NM_000052.6(ATP7A): c.2938C> T (p.Arg980Ter) single nucleotide variant Pathogenic rs72554649 GRCh37 Chromosome X, 77284768: 77284768
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.3911A> G (p.Asn1304Ser) single nucleotide variant Pathogenic rs151340632 GRCh37 Chromosome X, 77298192: 77298192
8 ATP7A NM_000052.6(ATP7A): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs151340633 GRCh37 Chromosome X, 77244218: 77244218
9 ATP7A NM_000052.6(ATP7A): c.1947-1G> A single nucleotide variant Pathogenic rs794729231 GRCh37 Chromosome X, 77266945: 77266945
10 ATP7A NM_000052.6(ATP7A): c.421_422delGA (p.Glu141Alafs) deletion Pathogenic rs797045397 GRCh37 Chromosome X, 77244038: 77244039
11 ATP7A NM_000052.6(ATP7A): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs797045399 GRCh38 Chromosome X, 77988719: 77988719
12 ATP7A NM_000052.6(ATP7A): c.876delG (p.Ser293Glnfs) deletion Pathogenic rs797045400 GRCh37 Chromosome X, 77244994: 77244994
13 ATP7A NM_000052.6(ATP7A): c.1006G> T (p.Glu336Ter) single nucleotide variant Pathogenic rs797045325 GRCh38 Chromosome X, 77989628: 77989628
14 ATP7A NM_000052.6(ATP7A): c.1020_1024dupGGGGC (p.Leu342Argfs) duplication Pathogenic rs797045327 GRCh38 Chromosome X, 77989642: 77989646
15 ATP7A NM_000052.6(ATP7A): c.1225C> T (p.Arg409Ter) single nucleotide variant Pathogenic rs72554636 GRCh37 Chromosome X, 77245343: 77245343
16 ATP7A NM_000052.6(ATP7A): c.1355delT (p.Val452Glufs) deletion Pathogenic rs797045329 GRCh38 Chromosome X, 77998496: 77998496
17 ATP7A NM_000052.6(ATP7A): c.1460C> A (p.Ser487Ter) single nucleotide variant Pathogenic rs797045330 GRCh38 Chromosome X, 77998601: 77998601
18 ATP7A NM_000052.6(ATP7A): c.1544-1G> A single nucleotide variant Pathogenic rs797045331 GRCh38 Chromosome X, 78003072: 78003072
19 ATP7A NM_000052.6(ATP7A): c.1639C> T (p.Arg547Ter) single nucleotide variant Pathogenic rs797045332 GRCh38 Chromosome X, 78003168: 78003168
20 ATP7A NM_000052.6(ATP7A): c.1667_1668delTA (p.Ile556Argfs) deletion Pathogenic rs797045333 GRCh38 Chromosome X, 78003196: 78003197
21 ATP7A NM_000052.6(ATP7A): c.1782C> G (p.Tyr594Ter) single nucleotide variant Pathogenic rs797045336 GRCh38 Chromosome X, 78009176: 78009176
22 ATP7A NM_000052.6(ATP7A): c.1831G> T (p.Glu611Ter) single nucleotide variant Pathogenic rs797045337 GRCh38 Chromosome X, 78009225: 78009225
23 ATP7A NM_000052.6(ATP7A): c.1870-1G> C single nucleotide variant Pathogenic rs797045338 GRCh38 Chromosome X, 78011175: 78011175
24 ATP7A NM_000052.6(ATP7A): c.1874T> G (p.Leu625Ter) single nucleotide variant Pathogenic rs797045339 GRCh38 Chromosome X, 78011180: 78011180
25 ATP7A NM_000052.6(ATP7A): c.1885G> C (p.Ala629Pro) single nucleotide variant Likely pathogenic rs72554639 GRCh38 Chromosome X, 78011191: 78011191
26 ATP7A NM_000052.6(ATP7A): c.1933C> T (p.Arg645Ter) single nucleotide variant Pathogenic rs72554640 GRCh38 Chromosome X, 78011239: 78011239
27 ATP7A NM_000052.6(ATP7A): c.1946+1G> C single nucleotide variant Pathogenic rs797045340 GRCh37 Chromosome X, 77266750: 77266750
28 ATP7A NM_000052.6(ATP7A): c.1946+5G> A single nucleotide variant Pathogenic rs797045341 GRCh37 Chromosome X, 77266754: 77266754
29 ATP7A NM_000052.6(ATP7A): c.1947-1G> C single nucleotide variant Pathogenic rs794729231 GRCh37 Chromosome X, 77266945: 77266945
30 ATP7A NM_000052.6(ATP7A): c.1950G> A (p.Trp650Ter) single nucleotide variant Pathogenic rs797045342 GRCh37 Chromosome X, 77266949: 77266949
31 ATP7A NM_000052.6(ATP7A): c.1978_2008dup31 (p.Tyr670Phefs) duplication Pathogenic rs797045343 GRCh38 Chromosome X, 78011480: 78011510
32 ATP7A NM_000052.6(ATP7A): c.1996G> A (p.Gly666Arg) single nucleotide variant Likely pathogenic rs797045344 GRCh38 Chromosome X, 78011498: 78011498
33 ATP7A NM_000052.6(ATP7A): c.1996G> C (p.Gly666Arg) single nucleotide variant Pathogenic rs797045344 GRCh38 Chromosome X, 78011498: 78011498
34 ATP7A NM_000052.6(ATP7A): c.2160T> A (p.Cys720Ter) single nucleotide variant Pathogenic rs797045346 GRCh38 Chromosome X, 78011662: 78011662
35 ATP7A NM_000052.6(ATP7A): c.2172G> T (p.Gln724His) single nucleotide variant Likely pathogenic rs797045348 GRCh37 Chromosome X, 77267171: 77267171
36 ATP7A NM_000052.6(ATP7A): c.2172+5G> C single nucleotide variant Pathogenic rs797045347 GRCh38 Chromosome X, 78011679: 78011679
37 ATP7A NM_000052.6(ATP7A): c.2173-2A> G single nucleotide variant Pathogenic rs797045349 GRCh37 Chromosome X, 77268374: 77268374
38 ATP7A NM_000052.6(ATP7A): c.2179G> A (p.Gly727Arg) single nucleotide variant Pathogenic rs72554644 GRCh37 Chromosome X, 77268382: 77268382
39 ATP7A NM_000052.6(ATP7A): c.2179G> T (p.Gly727Ter) single nucleotide variant Pathogenic rs72554644 GRCh38 Chromosome X, 78012885: 78012885
40 ATP7A NM_000052.6(ATP7A): c.2183G> A (p.Gly728Asp) single nucleotide variant Likely pathogenic rs797045350 GRCh37 Chromosome X, 77268386: 77268386
41 ATP7A NM_000052.6(ATP7A): c.2187G> A (p.Trp729Ter) single nucleotide variant Pathogenic rs797045351 GRCh37 Chromosome X, 77268390: 77268390
42 ATP7A NM_000052.6(ATP7A): c.2248_2251dupATTG (p.Val751Aspfs) duplication Pathogenic rs797045352 GRCh38 Chromosome X, 78012954: 78012957
43 ATP7A NM_000052.6(ATP7A): c.2302delG (p.Ala768Glnfs) deletion Pathogenic rs797045353 GRCh38 Chromosome X, 78013008: 78013008
44 ATP7A NM_000052.6(ATP7A): c.2357T> G (p.Met786Arg) single nucleotide variant Pathogenic rs797045354 GRCh38 Chromosome X, 78013063: 78013063
45 ATP7A NM_000052.6(ATP7A): c.2383C> T (p.Arg795Ter) single nucleotide variant Pathogenic rs72554645 GRCh38 Chromosome X, 78013089: 78013089
46 ATP7A NM_000052.6(ATP7A): c.2395_2405delCATATAGCAAAinsAGCATC (p.His799Serfs) indel Pathogenic rs797045355 GRCh38 Chromosome X, 78013101: 78013111
47 ATP7A NM_000052.6(ATP7A): c.2405_2406+1delinsT indel Pathogenic rs797045356 GRCh38 Chromosome X, 78013111: 78013113
48 ATP7A NM_000052.6(ATP7A): c.2498+2T> A single nucleotide variant Pathogenic rs797045357 GRCh38 Chromosome X, 78014755: 78014755
49 ATP7A NM_000052.6(ATP7A): c.2499-1G> A single nucleotide variant Pathogenic rs797045359 GRCh38 Chromosome X, 78015753: 78015753
50 ATP7A NM_000052.6(ATP7A): c.2499-1_2504dupGTGAAGA duplication Pathogenic rs797045358 GRCh37 Chromosome X, 77271250: 77271256

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 space GO:0005615 9.35 CP DBH LOX PAM PGK1
2 trans-Golgi network GO:0005802 8.8 ATP7A ATP7B PAM

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.86 CP DBH LOX PAM
2 ion transport GO:0006811 9.84 ATOX1 ATP7A ATP7B CP
3 extracellular matrix organization GO:0030198 9.67 ATP7A ELN LOX
4 antimicrobial humoral response GO:0019730 9.57 ATOX1 ATP7A
5 collagen fibril organization GO:0030199 9.55 ATP7A LOX
6 lactation GO:0007595 9.54 ATP7A ATP7B PAM
7 blood vessel remodeling GO:0001974 9.52 ATP7A DBH
8 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.51 ATP7A ATP7B
9 elastic fiber assembly GO:0048251 9.48 ATP7A LOX
10 copper ion import GO:0015677 9.46 ATP7A ATP7B
11 copper ion transmembrane transport GO:0035434 9.43 ATOX1 ATP7B
12 metal ion transport GO:0030001 9.43 ATOX1 ATP7A ATP7B
13 intracellular copper ion transport GO:0015680 9.4 ATOX1 ATP7B
14 response to copper ion GO:0046688 9.33 ATP7A ATP7B PAM
15 copper ion export GO:0060003 9.32 ATP7A ATP7B
16 cellular copper ion homeostasis GO:0006878 9.13 ATOX1 ATP7A ATP7B
17 copper ion transport GO:0006825 8.92 ATOX1 ATP7A ATP7B CP

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.76 CP DBH LOX PAM
2 monooxygenase activity GO:0004497 9.48 DBH PAM
3 L-ascorbic acid binding GO:0031418 9.43 DBH PAM
4 cation-transporting ATPase activity GO:0019829 9.37 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 9.32 DBH PAM
6 copper-dependent protein binding GO:0032767 9.26 ATOX1 ATP7A
7 copper ion binding GO:0005507 9.23 ATOX1 ATP7A ATP7B COMMD1 CP DBH
8 copper-exporting ATPase activity GO:0004008 9.16 ATP7A ATP7B
9 copper ion transmembrane transporter activity GO:0005375 9.13 ATOX1 ATP7A ATP7B
10 metal ion binding GO:0046872 10.01 ATOX1 ATP7A ATP7B COMMD1 CP DBH

Sources for Menkes Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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