{"orpha":313,"name":"Lamellar ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LI"],"definition":"A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313/","orphanet_url":"https://www.orpha.net/en/disease/detail/313","names":{"fr":{"name":"Ichtyose lamellaire","synonyms":["LI"],"definition":"Ichtyose congénitale autosomique récessive rare caractérisée par la présence de grandes squames sur tout le corps, sans érythrodermie significative."},"de":{"name":"Ichthyose, lamelläre","synonyms":["Ichthyose, kongenitale lamelläre","Ichthyose, lamelläre, klassische Form","LI"],"definition":"Eine seltene autosomal-rezessive kongenitale Ichthyose, die durch das Vorhandensein von großen Schuppen am ganzen Körper ohne signifikantes Erythroderma gekennzeichnet ist."},"es":{"name":"Ictiosis lamelar","synonyms":["IL","Ictiosis laminar"],"definition":"Es una ictiosis congénita autosómica recesiva poco frecuente caracterizada por la presencia de grandes escamas en todo el cuerpo sin una eritrodermia significativa."},"it":{"name":"Ittiosi lamellare","synonyms":["LI"],"definition":"L'ittiosi lamellare (IL) è una malattia della cheratinizzazione, caratterizzata dalla presenza di squame di grandi dimensioni su tutto il corpo, in assenza di un'eritrodermia significativa."},"nl":{"name":"Lamellaire ichthyosis","synonyms":["LI"],"definition":"Een zeldzame autosomaal recessieve congenitale ichthyosis, gekenmerkt door aanwezigheid van grote schilfers over geheel lichaam zonder significante erytrodermie."},"pt":{"name":"Ictiose lamelar","synonyms":["LI"],"definition":"Ictiose congénita autossómica recessiva rara, caracterizada pela presença de grandes escamas no corpo todo, sem eritrodermia significativa."},"pl":{"name":"Rybia łuska blaszkowata","synonyms":["Klasyczna ybia łuska blaszkowata","LI","Wrodzona rybia łuska blaszkowata"]},"cs":{"name":"Lamerální ichtyóza","synonyms":["Klasická lamerální ichtyóza","Vrozená lamelární ichtyóza","LI"]},"uk":{"name":"Пластинчастий іхтіоз","synonyms":["LI"],"definition":"A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma."},"zh":{"name":"板层状鱼鳞病","synonyms":["先天性板层状鳞癣"]},"tr":{"name":"Lameller iktiyoz","synonyms":["LI","Klasik lameller iktiyoz","Doğumsal lameller iktiyoz"]}},"xrefs":[{"source":"OMIM","code":"146750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"242300","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601277","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604777","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606545","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612281","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613943","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617571","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617574","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EC20.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"600146417"},{"source":"MONDO","code":"0017778","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017490","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848247","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10803","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10023686","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281097,"name":"Autosomal recessive congenital ichthyosis","classifications":[147,156,187,189]}],"children":[],"genes":[{"symbol":"SULT2B1","name":"sulfotransferase family 2B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28575648[PMID]","hgnc":"11459","ensembl":"ENSG00000088002","omim":"604125","loci":["19q13.33"]},{"symbol":"ABCA12","name":"ATP binding cassette subfamily A member 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22739337[PMID]_20301593[PMID]","hgnc":"14637","ensembl":"ENSG00000144452","omim":"607800","loci":["2q35"]},{"symbol":"ALOX12B","name":"arachidonate 12-lipoxygenase, 12R type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22739337[PMID]_20301593[PMID]","hgnc":"430","ensembl":"ENSG00000179477","omim":"603741","loci":["17p13.1"]},{"symbol":"ALOXE3","name":"arachidonate epidermal lipoxygenase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25423909[PMID]_21668430[PMID]_19131948[PMID]","hgnc":"13743","ensembl":"ENSG00000179148","omim":"607206","loci":["17p13.1"]},{"symbol":"ASPRV1","name":"aspartic peptidase retroviral like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32516568[PMID]","hgnc":"26321","ensembl":"ENSG00000244617","omim":"611765","loci":["2p13.3"]},{"symbol":"CYP4F22","name":"cytochrome P450 family 4 subfamily F member 22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22739337[PMID]_20301593[PMID]","hgnc":"26820","ensembl":"ENSG00000171954","omim":"611495","loci":["19p13.12"]},{"symbol":"LIPN","name":"lipase family member N","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21439540[PMID]","hgnc":"23452","ensembl":"ENSG00000204020","omim":"613924","loci":["10q23.31"]},{"symbol":"NIPAL4","name":"NIPA like domain containing 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22739337[PMID]_20301593[PMID]","hgnc":"28018","ensembl":"ENSG00000172548","omim":"609383","loci":["5q33.3"]},{"symbol":"SDR9C7","name":"short chain dehydrogenase/reductase family 9C member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28906551[PMID]_28369735[PMID]","hgnc":"29958","ensembl":"ENSG00000170426","omim":"609769","loci":["12q13.3"]},{"symbol":"TGM1","name":"transglutaminase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22739337[PMID]_20301593[PMID]","hgnc":"11777","ensembl":"ENSG00000092295","omim":"190195","loci":["14q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"9887377[PMID]_22000705[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Spain","status":"Validated","source":"22000705[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Norway","status":"Validated","source":"9887377[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-06-15","source":"38588653[PMID]_24397709[PMID]_17215621[PMID]_12780701[PMID]_26206273[PMID]_34670609[PMID]_37542530[PMID]_29390542[PMID]","terms":[{"hpo":"HP:0033665","label":"Diminished health-related quality of life","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025813","label":"Eyebrow scaling skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025809","label":"Generalized scaling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002046","label":"Heat intolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031057","label":"Skin fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030053","label":"Stiff skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025608","label":"Cicatricial ectropion","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:0030001","label":"Lagophthalmos","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003121","label":"Limb joint contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009775","label":"Amniotic constriction ring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007717","label":"Chronic irritative conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012905","label":"Euryblepharon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011457","label":"Loss of eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025572","label":"Punctal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100583","label":"Corneal perforation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000621","label":"Entropion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null}]}}