{"orpha":506334,"name":"Familial steroid-resistant nephrotic syndrome with adrenal insufficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency","SPLIS","Sphingosine phosphate lyase insufficiency syndrome"],"definition":"A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-506334/","orphanet_url":"https://www.orpha.net/en/disease/detail/506334","names":{"fr":{"name":"Syndrome néphrotique familial corticorésistant avec insuffisance surrénalienne","synonyms":["SPLIS"],"definition":"Maladie avec atteinte multisystémique et glomérulopathie caractérisée par un syndrome néphrotique progressif résistant aux stéroïdes, typiquement associé à une hyalinose segmentaire et focale, ainsi qu'une insuffisance surrénale primaire avec calcifications surrénales. L'âge d'apparition et l'évolution de la maladie sont variables, certains cas se présentant sous la forme d'une anasarque foetoplacentaire sévère, tandis que la plupart des patients sont en bas âge ou dans la petite enfance et présentent une insuffisance rénale terminale qui évolue en quelques années. Parmi les autres signes cliniques figurent notamment l'ichtyose, l'hypothyroïdie primaire, l'hypogonadisme, l'immunodéficience et les manifestations neurologiques (telles que les troubles cognitifs, l'ataxie, la surdité de perception ou les crises convulsives)."},"de":{"name":"Familiäres steroidresistentes nephrotisches Syndrom mit Nebenniereninsuffizienz","synonyms":["Primäre adrenale Insuffizienz mit steroidresistentem nephrotischen Syndrom durch SGPL1-Mangel","SPLIS","Sphingosinphosphatlyase-Insuffizienzsyndrom"],"definition":"Eine seltene Erkrankung mit multisystemischer Beteiligung und Glomerulopathie, die durch ein progressives steroidresistentes nephrotisches Syndrom gekennzeichnet ist, das typischerweise mit einer fokalen segmentalen Glomerulosklerose und einer primären Nebenniereninsuffizienz mit Nebennierenverkalkung einhergeht. Das Manifestationsalter und der Krankheitsverlauf sind variabel; einige Fälle manifestieren sich als schwerer fetaler Hydrops, während die meisten Patienten im Säuglings- oder Kleinkindesalter erkranken und innerhalb weniger Jahre eine terminale Niereninsuffizienz entwickeln. Weitere Merkmale sind Ichthyose, primäre Hypothyreose, Hypogonadismus, Immundefizienz und neurologische Manifestationen (wie kognitive Beeinträchtigung, Ataxie, Schallempfindungsschwerhörigkeit oder Krampfanfälle)."},"es":{"name":"Síndrome nefrótico resistente a esteroides con insuficiencia suprarrenal familiar","synonyms":["SPLIS","Síndrome de insuficiencia de liasa de fosfato de esfingosina","Síndrome nefrótico resistente a esteroides-insuficiencia suprarrenal primaria por deficiencia de SGPL1"],"definition":"Es un trastorno poco frecuente con afectación multisistémica y glomerulopatía caracterizado por síndrome nefrótico corticorresistente progresivo, típicamente asociado a glomeruloesclerosis focal y segmentaria, así como a insuficiencia suprarrenal primaria con calcificaciones suprarrenales. La edad de inicio y el curso de la enfermedad son variables; algunos casos se presentan con hidropesía fetal grave, mientras que la mayoría de los pacientes se presentan en la lactancia o en la infancia temprana, desarrollando enfermedad renal en etapa terminal a los pocos años. Otros hallazgos adicionales incluyen ictiosis, hipotiroidismo primario, hipogonadismo, inmunodeficiencia y manifestaciones neurológicas (tales como afectación cognitiva, ataxia, pérdida auditiva neurosensorial o crisis epilépticas)."},"it":{"name":"Sindrome nefrosica familiare resistente agli steroidi con insufficienza surrenalica","synonyms":["SPLIS","Sindrome da insufficienza della sfingosina fosfato liasi","Sindrome nefrosica steroido-resistente primaria da insufficienza surrenalica dovuta a deficit di SGPL1"],"definition":"Si tratta di una malattia multisistemica rara con glomerulopatia, caratterizzata dalla sindrome nefrosica progressiva resistente agli steroidi, di solito associata a glomerulosclerosi focale segmentale e insufficienza surrenale primitiva con calcificazioni surrenali. L'età d'esordio e il decorso della malattia sono variabili; in alcuni pazienti la malattia si manifesta sotto forma di idrope fetale grave, mentre nella maggior parte dei casi esordisce nel periodo neonatale o nella prima infanzia, e progredisce verso la malattia renale terminale nell'arco di pochi anni. I pazienti possono presentare anche ittiosi, ipotiroidismo primitivo, ipogonadismo, immunodeficienza e sintomi neurologici (deficit cognitivo, atassia, sordità neurosensoriale e crisi epilettiche)."},"nl":{"name":"Familiaal steroïdresistent nefrotisch syndroom met adrenale insufficiëntie","synonyms":["Primaire adrenale insufficiëntie - steroïderesistent nefrotisch syndroom door SGPL1-deficiëntie","SPLIS","Sfingosinefosfaatlyase-insufficiëntiesyndroom"],"definition":"Een zeldzame aandoening met multisystemische betrokkenheid en glomerulopathie, gekarakteriseerd door progressief steroïdresistent nefrotisch syndroom, doorgaans geassocieerd met focale segmentale glomerulosclerose, alsook primaire bijnierschorsinsufficiëntie met calcificatie van bijnier. Aanvangsleeftijd en verloop van de ziekte zijn variabel, met sommige gevallen die zich presenteren als ernstige hydrops foetalis, terwijl de meeste patiënten zich presenteren in de zuigelingentijd of vroege kindertijd en binnen enkele jaren progressie vertonen naar terminaal nierfalen. Bijkomende kenmerken zijn onder meer ichthyosis, primaire hypothyreoïdie, hypogonadisme, immuundeficiëntie, en neurologische manifestaties (zoals cognitieve functiestoornis, ataxie, sensorineuraal gehoorverlies, of insulten)."},"pt":{"name":"Síndrome nefrótica corticorresistente familiar com insuficiência supra-renal","synonyms":["SPLIS","Síndrome de insuficiência de esfingosina fosfatase liase","Síndrome nefrótica corticorresistente-insuficiência supra-renal primária por deficiência de SGPL1"]},"pl":{"name":"Rodzinny zespół nerczycowy oporny na sterydy z niewydolnością nadnerczy","synonyms":["Pierwotny zespół nerczycowy oporny na sterydy z powodu niedoboru SGPL1","Rodzinny steroidooporny zespół nerczycowy z niedoczynnością kory nadnerczy"]},"cs":{"name":"Familiární nefrotický syndrom rezistentní vůči steroidům s adrenální insuficiencí","synonyms":["Primární nedostatecnost nadledvin a nefrotický syndrom rezistentní vuci steroidum na podklade deficitu SGPL1","Primární nedostatečnost nadledvin a nefrotický syndrom rezistentní vůči steroidům na podkladě deficitu SGPL1"]},"uk":{"name":"Сімейний стероїдорезистентний нефротичний синдром з наднирковою недостатністю","synonyms":["Первинна надниркова недостатність - стероїдорезистентний нефротичний синдром, зумовлений дефіцитом SGPL1","Синдром недостатності сфінгозинфосфатліази","SPLIS"],"definition":"A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures)."},"zh":{"name":"家族性激素抵抗性肾病综合征伴肾上腺功能不全","synonyms":["SGPL1缺乏引起的原发性肾上腺功能不全-激素抵抗性肾病综合征"]},"tr":{"name":"Adrenal yetmezlik ile seyreden ailesel steroide dirençli nefrotik sendrom","synonyms":["SGPL1 eksikliğine bağlı primer adrenal yetersizlik-steroide dirençli nefrotik sendrom"]}},"xrefs":[{"source":"OMIM","code":"617575","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"33203","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568768","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13818","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":595337,"name":"Adrenal hypoplasia congenita","classifications":[156,193]},{"orpha":352301,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis","classifications":[150,156]},{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"SGPL1","name":"sphingosine-1-phosphate lyase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28181337[PMID]_24777844[PMID]_28218265[PMID]","hgnc":"10817","ensembl":"ENSG00000166224","omim":"603729","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}