Menkes Disease

External Ids:

OMIM 57 309400 Disease Ontology 12 DOID:1838 MeSH 44 D007706 NCIt 50 C75486 SNOMED-CT 68 59178007 Orphanet 59 ORPHA565

UMLS via Orphanet 74 C0022716 ICD10 via Orphanet 34 E83.0 MedGen 42 C0022716 KEGG 37 H00209 SNOMED-CT via HPO 69 197866008 396232000 13649004 271611007 118930001 32003007 398206004 398302004 103606006 32958008 25786006 277843001 391987005 249671009 201637001 239832006 239838005 64859006 16386004 58588007 18655006 201284005 23006000 89031001 17417006 69943009 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 398151007 398152000 221360009 397790002 41581000 56731001 26544005 27911000 298203008 199612005 22033007 396347007 237630007 271327008 302866003 16932000 386689009 271700006 1386000 52564001 74474003 609225004 432119003 85659009 113194005 111253001 60168000 134291007 5468008 237836003 20696009 387712008 27173008 248274002 84229001 68109007 416189003 80400009 more UMLS 73 C0022716

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...

Clinical features from OMIM:

309400

Search NIH Clinical Center for Menkes Disease

Search GEO for disease gene expression data for Menkes Disease.