{"orpha":357074,"name":"Autosomal recessive cutis laxa type 2, classic type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ARCL2, Debré type","ARCL2, classic type","Autosomal recessive cutis laxa type 2, Debré type"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-357074/","orphanet_url":"https://www.orpha.net/en/disease/detail/357074","names":{"fr":{"name":"Cutis laxa autosomique récessive type 2 classique","synonyms":["ARCL2 type classique","ARCL2B type Debré","Cutis laxa autosomique récessive type 2 Debré"]},"de":{"name":"Cutis laxa, autosomal-rezessive, Typ 2, klassische","synonyms":["ARCL2 Typ Debré","ARCL2, klassischer Typ","Cutis laxa, autosomal-rezessive, Typ 2, Debré"]},"es":{"name":"Cutis laxa autosómica recesiva tipo 2, tipo clásico","synonyms":["ARCL2 tipo Debré","ARCL2 tipo clásico","Cutis laxa autosómica recesiva tipo 2, tipo Debré"]},"it":{"name":"Cutis laxa autosomica recessiva tipo 2, tipo classico","synonyms":["ARCL2, tipo Debré","ARCL2, tipo classico","Cutis laxa autosomica recessiva tipo 2, tipo Debré"]},"nl":{"name":"Autosomaal recessieve cutis laxa type 2, klassiek type","synonyms":["ARCL2, Debré-type","ARCL2, klassiek type","Autosomaal recessieve cutis laxa type 2, Debré-type"]},"pt":{"name":"Cutis laxa autossómica recessiva tipo 2, clássica"},"pl":{"name":"Autosomalna recesywna luźna skóra typu 2, typ klasyczny","synonyms":["ARCL2, typ Debré","ARCL2, typ klasyczny","Autosomalna recesywna luźna skóra typu 2, typ Debré"]},"cs":{"name":"Autozomálně recesivní cutis laxa typ 2, klasický typ","synonyms":["ARCL2, Debrého typ","ARCL2, klasický typ","Debrého syndrom","Autozomálně recesivní cutis laxa typ 2, Debrého typ"]},"uk":{"name":"Аутосомно-рецесивний тип cutis laxa, тип 2, класичний тип","synonyms":["ARCL2, класичний тип","ARCL2, тип Дебре","Аутосомно-рецесивний синдром cutis laxa типу 2, тип Дебре"]},"zh":{"name":"常染色体隐性皮肤松弛2型，经典型","synonyms":["常染色体隐性遗传性皮肤松弛症2型Debré型"]},"tr":{"name":"Otozomal resesif kutis laksa tip 2, klasik tip","synonyms":["ARCL2, Debré tipi","ARCL2, klasik tipi","Otozomal çekinik kutis laksa tip 2, Debré tipi"]}},"xrefs":[{"source":"OMIM","code":"219200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617402","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617403","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009054","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679922","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":357058,"name":"Autosomal recessive cutis laxa type 2A","classifications":[147,150,156,181,182,186,187,199]}],"children":[],"genes":[{"symbol":"ATP6V0A2","name":"ATPase H+ transporting V0 subunit a2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301755[PMID]_19321599[PMID]_18157129[PMID]","hgnc":"18481","ensembl":"ENSG00000185344","omim":"611716","loci":["12q24.31"]},{"symbol":"ATP6V1A","name":"ATPase H+ transporting V1 subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28065471[PMID]","hgnc":"851","ensembl":"ENSG00000114573","omim":"607027","loci":["3q13.31"]},{"symbol":"ATP6V1E1","name":"ATPase H+ transporting V1 subunit E1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28065471[PMID]","hgnc":"857","ensembl":"ENSG00000131100","omim":"108746","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-18","source":"18157129[PMID]_15657616[PMID]_5579863[PMID]_18716235[PMID]_19321599[PMID]_24478233[PMID]_19401719[PMID]_16780467[PMID]_9916839[PMID]_11424136[PMID]_3321993[PMID]_9916839[PMID]_8500259[PMID]_3321993[PMID]_4765201[PMID]","terms":[{"hpo":"HP:0001476","label":"Delayed closure of the anterior fontanelle","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003160","label":"Abnormal isoelectric focusing of serum transferrin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007552","label":"Abnormal subcutaneous fat tissue distribution","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025167","label":"Fragmented elastic fibers in the dermis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005272","label":"Prominent nasolabial fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007457","label":"Prominent veins on trunk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002361","label":"Psychomotor deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005989","label":"Redundant neck skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006891","label":"Thick cerebral cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025201","label":"Abnormal circulating apolipoprotein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025244","label":"Subretinal pigment epithelium hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010989","label":"Abnormality of the intrinsic pathway","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Excluded (0%)","criteria":null}]}}