{"orpha":98907,"name":"Neutral lipid storage disease with ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDS","Chanarin-Dorfman syndrome","DCS","Dorfman-Chanarin syndrome","NLSDI"],"definition":"A form of autosomal recessive neutral lipid storage disease characterized by the accumulation of lipid vacuoles in granulocytes (so-called Jordan's anomaly) and a variety of other cell types. Clinically, the skin symptoms with ichthyosiform erythroderma and scaling are initially in the foreground. Later, steatosis hepatis, hepatomegaly and muscle weakness develop. Other manifestations include growth delay, cataracts, sensorineural hearing loss, intellectual disability and bowel disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98907/","orphanet_url":"https://www.orpha.net/en/disease/detail/98907","names":{"fr":{"name":"Lipidose avec surcharge en triglycérides et ichtyose","synonyms":["NLSDI","SCD","SDC","Syndrome de Chanarin-Dorfman","Syndrome de Dorfman-Chanarin"],"definition":"Forme autosomique récessive de lipidose avec surcharge en triglycérides caractérisée par l'accumulation de vacuoles lipidiques dans les granulocytes (dénommée anomalie de Jordan). Sur le plan clinique, des symptômes cutanés à type d'érythrodermie ichtyosiforme et de desquamation sont observés en premier lieu. Une stéatose hépatique, une hépatomégalie et une faiblesse musculaire se développent à un stade plus tardif. Les autres manifestations comprennent retard de croissance, cataracte, surdité neurosensorielle, déficience intellectuelle et troubles intestinaux."},"de":{"name":"Neutralfett-Speicherkrankheit mit Ichthyose","synonyms":["CDS","Chanarin-Dorfman-Syndrom","Dorfman-Chanarin-Krankheit","Dorfman-Chanarin-Syndrom","NLSDI"],"definition":"Eine Unterform aus der Gruppe der Neutralfett-Speicherkrankheiten, die durch die Anhäufung von Lipidvakuolen in Granulozyten (sogenannte Jordan-Anomalie im peripheren Blutausstrich) und einer Vielzahl anderer Zelltypen gekennzeichnet ist. Klinisch stehen zunächst Hautsymptome mit ichthyosiformer Erythrodermie und Schuppung im Vordergrund. Später entwickeln sich Steatosis hepatis, Hepatomegalie und Muskelschwäche. Weitere Manifestationen sind Wachstumsverzögerung, Katarakte, sensorineuraler Hörverlust, Intelligenzminderung und Darmerkrankungen."},"es":{"name":"Enfermedad por depósito de lípidos neutros con ictiosis","synonyms":["NLSDI","Síndrome de Chanarin-Dorfman","Síndrome de Dorfman-Chanarin"],"definition":"Es una forma poco frecuente de enfermedad por almacenamiento de lípidos neutros de carácter autosómico recesivo caracterizada por el acúmulo de vacuolas lipídicas en los granulocitos (conocido como anomalía de Jordan) y en otros tipos celulares. Clínicamente, la manifestación inicial más patente son los síntomas cutáneos con eritrodermia ictiosiforme y descamación. Posteriormente se desarrolla esteatosis hepática, hepatomegalia y debilidad muscular. Otras manifestaciones incluyen retraso del crecimiento, cataratas, hipoacusia neurosensorial, discapacidad intelectual y enfermedad intestinal."},"it":{"name":"Malattia da deposito di lipidi neutri con ittiosi","synonyms":["CDS","DCS","Malattia di Dorfman-Chanarin","NLSDI","Sindrome di Dorfman-Chanarin"],"definition":"Si tratta di una forma della malattia da deposito di lipidi neutri, caratterizzata dall'accumulo di vacuoli lipidici nei leucociti (noto come anomalia di Jordan, evidente negli strisci di sangue periferico) e in altri tipi di cellule. Il quadro clinico è caratterizzato dall'ittiosi congenita tipo eritroderma ittiosiforme congenito e dal coinvolgimento multisistemico variabile. I segni clinici comprendono l'epatosplenomegalia, la miopatia, la malattia intestinale, il ritardo della crescita, la cataratta, la sordità neurosensoriale e la disabilità intellettiva."},"nl":{"name":"Neutrale vetstapelingsziekte met ichthyosis","synonyms":["CDS","DCS","NLSDI","Syndroom van Chanarin-Dorfman","Syndroom van Dorfman-Chanari"],"definition":"Een vorm van autosomaal recessieve neutrale vetstapelingsziekte, gekenmerkt door accumulatie van lipidevacuolen in granulocyten (zogenaamde Jordan-anomalie) en een verscheidenheid van andere celtypes. Klinisch trekken de huidsymptomen met ichthyosiforme erytrodermie en desquamatie initieel de meeste aandacht. Later ontwikkelen leversteatose, hepatomegalie en spierzwakte. Overige manifestaties zijn onder meer groeiachterstand, cataract, sensorineuraal gehoorverlies, intellectuele achterstand, en darmziekte."},"pt":{"name":"Doença de armazenamento de lípidos neutros com ictiose","synonyms":["CDS","DCS","NLSDI","Síndrome Chanarin-Dorfman","Síndrome Dorfman-Chanarin"],"definition":"Forma da doença de armazenamento lipídico neutro autossómica recessiva caracterizada pelo acúmulo de vacúolos lipídicos em granulócitos (designada anomalia Jordan) e uma variedade de outros tipos de células. Clinicamente, os sintomas de pele com eritrodermia ictiosiforme e escamação estão inicialmente em primeiro plano. Mais tarde, desenvolvem-se esteatose hepática, hepatomegalia e fraqueza muscular. Outras manifestações incluem atraso de crescimento, catarata, perda auditiva neurossensorial, perturbação do desenvolvimento intelectual e doença intestinal."},"pl":{"name":"Neutralna choroba spichrzania lipidów z rybią łuską","synonyms":["Choroba spichrzania neutralnych tłuszczy z rybią łuską","NLSDI"]},"cs":{"name":"Dorfmanova-Chanarinova choroba","synonyms":["NLSDI","Střádavé onemocnění neutrálních lipidů s ichtyózou","Dorfman-Chanarinova choroba"]},"uk":{"name":"Хвороба накопичення нейтральних ліпідів з іхтіозом","synonyms":["CDS","Синдром Шанаріна-Дорфмана","DCS","Синдром Дорфмана-Чанаріна","NLSDI"],"definition":"A form of autosomal recessive neutral lipid storage disease characterized by the accumulation of lipid vacuoles in granulocytes (so-called Jordan's anomaly) and a variety of other cell types. Clinically, the skin symptoms with ichthyosiform erythroderma and scaling are initially in the foreground. Later, steatosis hepatis, hepatomegaly and muscle weakness develop. Other manifestations include growth delay, cataracts, sensorineural hearing loss, intellectual disability and bowel disease."},"zh":{"name":"中性脂质贮积病伴鱼鳞病","synonyms":["Dorfman-Chanarin 病"]},"tr":{"name":"İktiyoz ile seyreden nötr lipid depo hastalığı","synonyms":["NLSDI","Dorfman-Chanarin hastalığı"]}},"xrefs":[{"source":"OMIM","code":"275630","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"690728790"},{"source":"MONDO","code":"0010155","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536560","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268238","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3979","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","classifications":[156,187]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":165,"name":"Neutral lipid storage disease","classifications":[150,156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ABHD5","name":"abhydrolase domain containing 5, lysophosphatidic acid acyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18606822[PMID]","hgnc":"21396","ensembl":"ENSG00000011198","omim":"604780","loci":["3p21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-21","source":"7362208[PMID]_24836204[PMID]_7362208[PMID]_21045422[PMID]_11251597[PMID]","terms":[{"hpo":"HP:0007479","label":"Congenital nonbullous ichthyosiform erythroderma","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001911","label":"Abnormality of granulocytes","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012472","label":"Eclabion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012240","label":"Increased intramyocellular lipid droplets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000523","label":"Subcapsular cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007009","label":"Central nervous system degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001413","label":"Micronodular cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001946","label":"Ketosis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Excluded (0%)","criteria":null}]}}