{"orpha":37,"name":"Acrodermatitis enteropathica","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AEZ","Acrodermatitis enteropathica, zinc deficiency type","Inherited zinc deficiency"],"definition":"A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-37/","orphanet_url":"https://www.orpha.net/en/disease/detail/37","names":{"fr":{"name":"Acrodermatite entéropathique","synonyms":["AEZ","Déficit héréditaire en zinc"],"definition":"L'acrodermatite entéropathique (AEZ) est une erreur innée, héréditaire et rare du métabolisme conduisant à un déficit sévère en zinc, et caractérisée par une dermatite acrale, une alopécie, une diarrhée et un retard de croissance staturo-pondérale."},"de":{"name":"Acrodermatitis enteropathica","synonyms":["AEZ","Acrodermatitis enteropathica, Zink-Mangel Typ","Zink-Mangel, hereditärer","Zinkmangel-Syndrom, hereditäres"],"definition":"Eine seltene angeborene Stoffwechselstörung, die zu einem schweren Zinkmangel führt und durch akrale Dermatitis, Alopezie, Durchfall und Wachstumsstörungen gekennzeichnet ist."},"es":{"name":"Acrodermatitis enteropática","synonyms":["AEZ","Acrodermatitis enteropática tipo deficiencia de cinc","Acrodermatitis enteropática tipo deficiencia de zinc","Deficiencia de cinc hereditaria","Deficiencia de zinc hereditaria"],"definition":"Es un error innato del metabolismo poco frecuente que resulta en una deficiencia grave de cinc y que se caracteriza por dermatitis acral, alopecia, diarrea y problemas de crecimiento."},"it":{"name":"Acrodermatite enteropatica","synonyms":["AE","AEZ","Deficit ereditario dello zinco"],"definition":"L'acrodermatite enteropatica (AE) è un difetto raro ereditario del metabolismo che causa una grave carenza di zinco ed è caratterizzato da dermatite acrale, alopecia, diarrea e ritardo della crescita."},"nl":{"name":"Acrodermatitis enteropathica","synonyms":["AEZ","Acrodermatitis enteropathica, zinkdeficiëntie-type","Congenitale zinkdeficiëntie","Overgeërfde zinkdeficiëntie"],"definition":"Een zeldzaam, erfelijk, aangeboren stofwisselingsdefect dat resulteert in ernstige zinkdeficiëntie en gekarakteriseerd wordt door acrale dermatitis, alopecie, diarree en groeifalen."},"pt":{"name":"Acrodermatite enteropática","synonyms":["Acrodermatite enteropática por deficiência de zinco"]},"pl":{"name":"Acrodermatitis enteropathica","synonyms":["AEZ","Wrodzony niedobór cynku","Niedobór dziedziczny cynku","Acrodermatitis enteropathica, typ niedoboru cynku"]},"cs":{"name":"Akrodermatitis enteropathica","synonyms":["AE","AEZ","Vrozený deficit zinku"]},"uk":{"name":"Ентеропатичний акродерматит","synonyms":["Ентеропатичний акродерматит, цинкодефіцитний тип","AEZ","Спадковий дефіцит цинку"],"definition":"A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure."},"zh":{"name":"肠病性肢端皮炎","synonyms":["肠病性肢端皮炎，缺锌型"]},"tr":{"name":"Akrodermatit enteropati","synonyms":["AEZ","Kalıtsal çinko eksikliği","Akrodermatitis enteropatika, çinko eksikliği tipi"]}},"xrefs":[{"source":"OMIM","code":"201100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C64.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1813939482"},{"source":"MONDO","code":"0008713","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538178","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221036","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5723","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000596","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":309845,"name":"Disorder of zinc metabolism and transport","classifications":[150,156]},{"orpha":363306,"name":"Genetic intestinal disease due to fat malabsorption","classifications":[156]},{"orpha":104005,"name":"Intestinal disease due to fat malabsorption","classifications":[152]},{"orpha":79387,"name":"Metabolic disease with skin involvement","classifications":[156]},{"orpha":79217,"name":"Other metabolic disease with skin involvement","classifications":[187]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[],"genes":[{"symbol":"SLC39A4","name":"solute carrier family 39 member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22166942[PMID]_22082465[PMID]_12787121[PMID]","hgnc":"17129","ensembl":"ENSG00000147804","omim":"607059","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Denmark","status":"Validated","source":"17190629[PMID]_8562288[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Denmark","status":"Not yet validated","source":"17190629[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000157","label":"Abnormality of the tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000221","label":"Furrowed tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000206","label":"Glossitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001818","label":"Paronychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008402","label":"Ridged fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001807","label":"Ridged nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}