Menkes Disease (MNK)

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Disease Ontology 12 DOID:1838 OMIM® 57 309400 KEGG 36 H00209 MeSH 44 D007706 NCIt 50 C75486 SNOMED-CT 67 59178007

ICD10 via Orphanet 33 E83.0 UMLS via Orphanet 71 C0022716 Orphanet 58 ORPHA565 MedGen 41 C0022716 SNOMED-CT via HPO 68 103606006 111253001 113194005 118930001 128613002 134291007 13649004 1386000 16386004 16932000 17417006 18655006 197866008 199612005 201284005 201637001 20696009 22033007 221360009 228156007 23006000 237630007 237836003 239832006 239838005 246545002 247578003 248274002 249671009 25786006 26544005 271327008 271611007 271700006 27173008 277843001 27911000 298203008 302866003 313307000 32003007 32958008 386689009 387712008 391987005 396232000 396347007 397790002 398151007 398152000 398206004 398302004 41581000 416189003 432119003 52564001 53602002 5468008 56558005 56731001 58588007 60168000 609225004 64859006 68109007 69943009 74474003 80400009 84229001 84757009 85659009 89031001 91138005 91175000 more UMLS 70 C0022716

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...

Clinical features from OMIM®:

309400 (Updated 05-Apr-2021)

Search NIH Clinical Center for Menkes Disease

Search GEO for disease gene expression data for Menkes Disease.