Menkes Disease malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases, Muscle diseases
50OMIM, 11Disease Ontology, 69Wikipedia, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 25GTR, 37MeSH, 66UMLS, 2CDC, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Menkes Disease:
Orphanet epidemiological data:52
Inheritance: X-linked recessive; Age of onset: Neonatal; Age of death: early childhood
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases, Muscle diseases
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
NIH Rare Diseases:46 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. additional signs and symptoms may be present. children with menkes syndrome typically begin to develop very severe symptoms during infancy. 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 slightly improve the prognosis in some affected children. last updated: 12/2/2015
MalaCards based summary: Menkes Disease, also known as menkes kinky hair syndrome, is related to acquired kinky hair syndrome and mckusick-kaufman syndrome, and has symptoms including abnormality of the palate, microcephaly and full cheeks. An important gene associated with Menkes Disease is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways is Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include skin, brain and liver, and related mouse phenotypes are pigmentation and liver/biliary system.
UniProtKB/Swiss-Prot:68 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.
CDC:2 Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get help as early as possible. Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.
NINDS:47 Menkes disease is caused by a defective gene named ATPTA 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.
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.
OMIM:50 Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features... (309400) more...
Wikipedia:69 Menkes disease (MNK), also known as Menkes syndrome, is a X-linked recessive disorder that affects... more...
Symptoms by clinical synopsis from OMIM:309400
Clinical features from OMIM:309400
Symptoms:52 (show all 55)
HPO human phenotypes related to Menkes Disease:(show all 68)
UMLS symptoms related to Menkes Disease:seizures, joint laxity
Drugs for Menkes Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Menkes Disease
MalaCards organs/tissues related to Menkes Disease:34
Skin, Brain, Liver, Kidney, Bone, Eye, Temporal lobe
MGI Mouse Phenotypes related to Menkes Disease:39
Articles related to Menkes Disease:(show top 50) (show all 341)
UniProtKB/Swiss-Prot genetic disease variations for Menkes Disease:68 (show all 33)
Clinvar genetic disease variations for Menkes Disease:5 (show all 89)
Search GEO for disease gene expression data for Menkes Disease.
Pathways related to Menkes Disease according to GeneCards Suite gene sharing:
Cellular components related to Menkes Disease according to GeneCards Suite gene sharing:
Biological processes related to Menkes Disease according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Menkes Disease according to GeneCards Suite gene sharing:(show all 9)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet