{"orpha":578,"name":"Mucolipidosis type IV","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-578/","orphanet_url":"https://www.orpha.net/en/disease/detail/578","names":{"fr":{"name":"Mucolipidose type IV","definition":"Maladie de surcharge lysosomale rare caractérisée, sur le plan clinique, par un retard de développement global sévère dû à une dysmyélinisation neuronale, une hypotonie qui progresse graduellement vers une spasticité pendant l'enfance, des troubles du langage, une atteinte visuelle progressive (due à une opacité cornéenne, une dégénérescence rétinienne et une atrophie optique), une achlorhydrie avec sécrétion accrue de gastrine et anémie ferriprive, et une maladie et une insuffisance rénales, en l'absence de dysmorphie."},"de":{"name":"Mukolipidose Typ IV","definition":"Eine seltene lysosomale Speicherkrankheit, die klinisch durch eine schwere globale Entwicklungsverzögerung aufgrund neuronaler Dysmyelinisierung, Hypotonie, die im Laufe der Kindheit allmählich in Spastizität übergeht, Sprachdefizite, fortschreitende Sehbehinderung (aufgrund von Hornhauttrübung, Netzhautdegeneration und Optikusatrophie), Achlorhydrie mit erhöhter Gastrinsekretion und Eisenmangelanämie sowie Nierenerkrankungen und -versagen gekennzeichnet ist, ohne dass dysmorphe Merkmale vorliegen."},"es":{"name":"Mucolipidosis tipo IV","definition":"Es una enfermedad poco frecuente de almacenamiento lisosomal que se caracteriza clínicamente por un grave retraso global del desarrollo debido a la desmielinización neuronal, una hipotonía que progresa gradualmente hacia la espasticidad durante la infancia, déficit del habla, discapacidad visual progresiva (debido a la opacidad corneal, degeneración de la retina y atrofia óptica), aclorhidria, con aumento de la secreción de gastrina y anemia por deficiencia de hierro, y enfermedad renal que progresa a insuficiencia renal, todo ello en ausencia de rasgos dismórficos."},"it":{"name":"Mucolipidosi tipo IV","definition":"Si tratta di una malattia rara da accumulo lisosomiale caratterizzata, dal punto di vista clinico, da grave ritardo dello sviluppo globale causato dalla demielinizzazione neuronale, ipotonia che progredisce gradualmente verso la spasticità durante l'infanzia, deficit del linguaggio, compromissione progressiva della vista (causata dalle opacità della cornea, dalla degenerazione della retina e dall'atrofia ottica), acloridria con aumento della secrezione di gastrina e anemia da deficit di ferro, nefropatia e insufficienza renale. I pazienti non presentano dismorfismi."},"nl":{"name":"Mucolipidose type IV","definition":"Een zeldzame lysosomale stapelingsziekte, klinisch gekenmerkt door ernstige algehele ontwikkelingsachterstand door neuronale dysmyelinisatie, hypotonie die geleidelijk evolueert naar spasticiteit tijdens de kindertijd, spraakstoornissen, progressief verlies van gezichtsvermogen (door hoornvliestroebeling, retinadegeneratie en opticusatrofie), achloorhydrie met verhoogde secretie van gastrine en anemie door ijzerdeficiëntie, en nierziekte en -falen, allen in afwezigheid van dysmorfe kenmerken."},"pt":{"name":"Mucolipidose tipo IV","definition":"Doença de armazenamento lisossómico rara caracterizada clinicamente por perturbação grave do desenvolvimento intelectual devido a dismielinização neuronal, hipotonia que progride gradualmente para espasticidade durante a infância, défices da fala, deficiência visual progressiva (devido a opacificação da córnea, degeneração da retina e atrofia óptica), acloridria, com aumento da secreção de gastrina e anemia por deficiência de ferro, e doença e insuficiência renal, sem registo de dismorfias."},"pl":{"name":"Mukolipidoza typu IV","definition":"Rzadka lizosomalna choroba spichrzeniowa, klinicznie charakteryzująca się poważnym, globalnym opóźnieniem rozwoju, wynikającym z nieprawidłowej mielinizacji neuronów, hipotonią, która w dzieciństwie stopniowo przechodzi w spastyczność, zaburzeniami mowy, postępującym upośledzeniem wzroku (z powodu zmętnienia rogówki, zwyrodnienia siatkówki i zaniku nerwu wzrokowego), brakiem kwasu solnego w soku żołądkowym ze zwiększoną zawartością gastryny, niedokrwistością z niedoboru żelaza oraz chorobą i niewydolnością nerek, przy braku cech dysmorficznych."},"cs":{"name":"Mukolipidóza, typ IV"},"uk":{"name":"Муколіпідоз, тип IV","definition":"A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features."},"zh":{"name":"粘脂贮积症IV型"},"tr":{"name":"Mukolipidoz tip IV"}},"xrefs":[{"source":"OMIM","code":"252650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"597963317"},{"source":"MONDO","code":"0009653","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238286","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"94","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072930","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225681,"name":"Lysosomal disease with epilepsy","classifications":[156,181]},{"orpha":79212,"name":"Mucolipidosis","classifications":[147,150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"MCOLN1","name":"mucolipin TRP cation channel 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21763169[PMID]_21224396[PMID]","hgnc":"13356","ensembl":"ENSG00000090674","omim":"605248","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Specific population","status":"Validated","source":"20159435[PMID]_16287144[PMID]_16645217[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004345","label":"Abnormality of ganglioside metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011020","label":"Abnormality of mucopolysaccharide metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","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:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007281","label":"Developmental stagnation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Occasional (29-5%)","criteria":null}]}}