{"orpha":565,"name":"Menkes disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MD","Menkes kinky hair disease","Menkes syndrome"],"definition":"A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-565/","orphanet_url":"https://www.orpha.net/en/disease/detail/565","names":{"fr":{"name":"Maladie de Menkes","synonyms":["MD","Syndrome de Menkes","Syndrome des cheveux en fils de fer de Menkes"],"definition":"Trouble congénital rare du métabolisme du cuivre qui s'accompagne des manifestations multisystémiques sévères, caractérisées principalement par une neurodégénérescence progressive et des anomalies marquées du tissu conjonctif. Une caractéristique pathognomonique est l'aspect anormal des cheveux dits en « fils de fer » et clairsemés."},"de":{"name":"Menkes-Syndrom","synonyms":["Kraushaarsyndrom","Kräuselhaarkrankheit","Kupfer-Mangel, X-chromosomaler","MK","MNK","Menkes-Krankheit","Menkes-Stahlhaarkrankheit","Trichopoliodystrophie"],"definition":"Eine seltene angeborene Störung des Kupferstoffwechsels mit schweren multisystemischen Manifestationen, die vor allem durch fortschreitende Neurodegeneration und ausgeprägte Bindegewebsanomalien gekennzeichnet sind. Ein pathognomonisches Merkmal ist das typische spärliche, abnorme stählerne Haar."},"es":{"name":"Enfermedad de Menkes","synonyms":["Enfermedad del cabello rizado de Menkes","Síndrome de Menkes"],"definition":"Es un trastorno congénito poco frecuente del metabolismo del cobre con manifestaciones multisistémicas graves caracterizado principalmente por neurodegeneración progresiva y marcadas anomalías del tejido conectivo. Una característica patognomónica es el típico cabello acerado y escaso."},"it":{"name":"Malattia di Menkes","synonyms":["MD","Malattia dei capelli crespi","Malattia dei capelli crespi di Menkes","Sindrome di Menkes"],"definition":"La malattia di Menkes (MD) è una malattia congenita rara del metabolismo del rame, associata a sintomi multisistemici gravi, caratterizzata in particolare da un deterioramento neurologico progressivo e da gravi anomalie del tessuto connettivo. I tipici capelli radi a ''filo di ferro'' sono il segno clinico patognomonico."},"nl":{"name":"Ziekte van Menkes","synonyms":["Kroeshaarziekte van Menkes","MD","Syndroom van Menkes"],"definition":"Een zeldzame congenitale aandoening van kopermetabolisme met ernstige multisystemische manifestaties die hoofdzakelijk gekenmerkt worden door progressieve neurodegeneratie en opvallende anomalieën van bindweefsel. Een pathognomonisch kenmerk is het typische schaarse, abnormale kroeshaar."},"pt":{"name":"Doença Menkes","synonyms":["Síndrome Menkes","Tricopoliodistrofia"],"definition":"A doença de Menkes (MD) é uma doença multissistémica geralmente grave do metabolismo do cobre, caracterizada por neurodegeneração progressiva e anomalias acentuadas do tecido conjuntivo, bem como cabelo tipicamente anormal, esparso com textura em palha-de-aço."},"pl":{"name":"Choroba Menkesa","synonyms":["Choroba kręconych włosów","Choroba stalowych włosów","Niedobór miedzi sprzężony z chromosomem X","Trichopoliodystrofia","Zespół kręconych włosów","Zespół Menkesa","Zespół stalowych włosów"],"definition":"Rzadkie wrodzone zaburzenie metabolizmu miedzi z poważnymi objawami wieloukładowymi, które charakteryzują się postępującą neurodegeneracją i wyraźnymi anomaliami tkanki łącznej. Cechą patognomoniczną są typowo rzadkie włosy o stalowym odcieniu."},"cs":{"name":"Menkesova nemoc","synonyms":["Kinky-hair syndrom","MD","MK","MNK","Steely hair syndrom","Trichopoliodystrofie","Nemoc kudrnatých vlasů","Menkesův syndrom","Syndrom uzlíčkovatých vlasů","X-vázaný deficit mědi"]},"uk":{"name":"Хвороба Менкеса","synonyms":["MD","Хвороба кучерявого волосся Менкеса","Синдром Менкеса"],"definition":"A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair."},"zh":{"name":"Menkes病","synonyms":["X连锁铜缺乏症"]},"tr":{"name":"Menkes hastalığı","synonyms":["MD","MK","MNK","Menkes sendromu","Kinky saç hastalığı","Kinky saç sendromu","Steely saç hastalığı","Steely saç sendromu","Trikopoliodistrofi","X'e bağlı bakır eksikliği"]}},"xrefs":[{"source":"OMIM","code":"309400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C64.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"986728180"},{"source":"MONDO","code":"0010651","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007706","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022716","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1521","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10027294","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309839,"name":"Disorder of copper metabolism","classifications":[150,156]},{"orpha":225692,"name":"Metal transport or utilization disorder with epilepsy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":79367,"name":"Syndromic hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[{"symbol":"ATP7A","name":"ATPase copper transporting alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301586[PMID]","hgnc":"869","ensembl":"ENSG00000165240","omim":"300011","loci":["Xq21.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"Europe","status":"Not yet validated","source":"1999344[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"Japan","status":"Validated","source":"15902550[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Australia","status":"Validated","source":"15902550[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002224","label":"Woolly hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005344","label":"Abnormality of the carotid arteries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000015","label":"Bladder diverticulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000934","label":"Chondrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Occasional (29-5%)","criteria":null}]}}