{"orpha":324737,"name":"SRD5A3-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Iq","CDG-Iq","CDG1Q","Congenital disorder of glycosylation type 1q","Congenital disorder of glycosylation type Iq"],"definition":"SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324737/","orphanet_url":"https://www.orpha.net/en/disease/detail/324737","names":{"fr":{"name":"SRD5A3-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1q","Anomalie congénitale de la glycosylation type Iq","CDG-Iq","CDG1Q","Syndrome CDG type Iq"],"definition":"Le SRD5A3-CDG est un trouble congénital rare de la glycosylation, non lié à l'X, dû à un déficit en stéroïde 5 alpha-réductase de type 3. Son phénotype est très variable et se présente habituellement par une atteinte visuelle sévère, des anomalies oculaires variables (telles qu'une hypoplasie/atrophie du nerf optique, un colobome du nerf optique et de l'iris, une cataracte congénitale, un glaucome), un déficit intellectuel, des anomalies cérébelleuses, un nystagmus, une hypotonie, une ataxie, et/ou des lésions cutanées ichtyosiformes. Les autres manifestations rapportées incluent une rétinite pigmentaire, une cyphose, des anomalies cardiaques congénitales, une hypertrichose et une coagulation anormale."},"de":{"name":"SRD5A3-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ Iq","CDG-Iq","CDG-Syndrom Iq","CDG1Q","Kohlenhydrat-defizientes Glykoprotein-Syndrom Iq","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Iq"],"definition":"SRD5A3-CDG ist eine seltene, nicht kongenitale Glykosylierungsstörung, die auf einem Steroid-5-alpha-Reduktase-Typ-3-Mangel beruht. Sie ist gekennzeichnet durch einen sehr variablen Phänotyp, der sich typischerweise in einer schweren Sehbehinderung äußert und variable Augenanomalien (wie Hypoplasie/Atrophie des Sehnervs, Iris- und Sehnervkolobom, kongenitaler Katarakt, Glaukom), Intelligenzminderung, Kleinhirnanomalien, Nystagmus, Hypotonie, Ataxie und/oder ichthyosiforme Hautveränderungen umfasst. Andere gemeldete Manifestationen umfassen Retinitis pigmentosa, Kyphose, kongenitale Herzfehler, Hypertrichose und Gerinnungsstörungen."},"es":{"name":"SRD5A3-CDG","synonyms":["CDG-Iq","CDG1Q","Síndrome CDG tipo Iq","Trastorno congénito de la glicosilación tipo 1q","Trastorno congénito de la glicosilación tipo Iq"],"definition":"El SRD5A3-CDG es un trastorno congénito poco frecuente de la glicosilación no ligado al X debido a la deficiencia de esteroide 5-alfa reductasa tipo 3. Se caracteriza por un fenotipo altamente variable, presentándose típicamente con discapacidad visual grave, anomalías oculares variables (tales como hipoplasia/atrofia del nervio óptico, coloboma del nervio óptico y del iris, catarata congénita, glaucoma), discapacidad intelectual, anomalías cerebelosas, nistagmo, hipotonía, ataxia, y/o lesiones cutáneas ictiosiformes. Otras manifestaciones descritas incluyen retinosis pigmentaria, cifosis, defectos cardíacos congénitos, hipertricosis y coagulación anómala."},"it":{"name":"SRD5A3-CDG","synonyms":["CDG-Iq","CDG1Q","Disturbo congenito della glicosilazione, tipo 1q","Disturbo congenito della glicosilazione, tipo Iq"],"definition":"SRD5A3-CDG è un disturbo della glicosilazione congenito e raro non legato all'X, causato dal deficit di steroido 5-alfa-reduttasi tipo 3; il quadro clinico è molto variabile e di solito è caratterizzato da una grave compromissione della vista, anomalie oculari di gravità variabile (ipoplasia/atrofia del nervo ottico, coloboma dell'iride e del nervo ottico, cataratta congenita e glaucoma), disabilità intellettiva, anomalie cerebellari, nistagmo, ipotonia, atassia e/o lesioni cutanee ittiosiformi. Altri segni clinici sono la retinite pigmentosa, la cifosi, le cardiopatie congenite, l'ipertricosi e le anomalie della coagulazione."},"nl":{"name":"SRD5A3-CDG","synonyms":["CDG-Iq","CDG-syndroom type Iq","CDG1Q","Congenitale defecten van de glycosylering type 1q","Congenitale defecten van de glycosylering type Iq","Congenitale glycosylatiestoornis type 1q","Congenitale glycosylatiestoornis type Iq"],"definition":"SRD5A3-CDG is een zeldzame, niet-X-gebonden congenitale stoornis van de glycosylatie ten gevolge van deficiëntie van steroïde 5-alfa-reductase type 3 en wordt gekarakteriseerd door een zeer variabel fenotype met doorgaans ernstige visuele beperking, variabele oculaire anomalieën (zoals hypoplasie/atrofie van de gezichtszenuw, coloboom van iris en gezichtszenuw, congenitaal cataract, glaucoom), intellectuele achterstand, cerebellaire afwijkingen, nystagmus, hypotonie, ataxie, en/of ichthyosiforme huidletsels. Overige gerapporteerde manifestaties zijn onder meer retinitis pigmentosa, kyfose, congenitale hartdefecten, hypertrichose, en abnormale coagulatie."},"pt":{"name":"Síndrome SRD5A3-CDG"},"pl":{"name":"SRD5A3-CDG","synonyms":["CDG1Q","CDG-Iq","Zespół CDG typu Iq","Wrodzone zaburzenie glikozylacji typu 1q","Wrodzone zaburzenie glikozylacji typu Iq"]},"cs":{"name":"SRD5A3-CDG","synonyms":["CDG-Iq","CDG1Q","Vrozená porucha glykosylace, typ 1q","Vrozená porucha glykosylace, typ Iq"]},"uk":{"name":"SRD5A3-CDG","synonyms":["Синдром CDG, тип Iq","CDG1Q","CDG-Iq","Вроджене порушення глікозилювання типу 1q","Вроджене порушення глікозилювання типу Iq"],"definition":"SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation."},"zh":{"name":"SRD5A3基因型先天性糖基化障碍","synonyms":["先天性糖基化障碍Iq型"],"definition":"SRD5A3型先天性糖基化障碍是一种罕见的、非X连锁的先天性糖基化障碍，其原因是类固醇5α还原酶3型缺乏，其特征是高度可变的表型，通常表现为严重的视力损害、多种眼部异常（如视神经发育不全/萎缩、虹膜和视神经缺损、先天性白内障、青光眼），智力障碍、小脑异常、眼球震颤、张力减退、共济失调和/或鱼鳞状皮肤病变。其他报告的表现包括视网膜色素变性，脊柱后凸，先天性心脏缺陷，多毛和凝血功能异常。"},"tr":{"name":"SRD5A3-CDG","synonyms":["CDG1Q","CDG-Iq","CDG sendromu tipi Iq","Tip 1q glikozilasyonun doğumsal bozukluğu","Tipik glikozilasyonun doğumsal bozukluğu Iq"]}},"xrefs":[{"source":"OMIM","code":"612379","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2080284881"},{"source":"MONDO","code":"0012885","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4317224","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12397","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":139477,"name":"Al-Gazali-Dattani syndrome","status":"inactive"},{"type":"Moved to","orpha":168972,"name":"Kahrizi syndrome","status":"inactive"},{"type":"Referred to","orpha":171860,"name":"OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":371200,"name":"Congenital disorder of glycosylation with skin involvement","classifications":[156,187]},{"orpha":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]},{"orpha":519345,"name":"Rare disorder with optic disc malformation","classifications":[147,156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SRD5A3","name":"steroid 5 alpha-reductase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20637498[PMID]","hgnc":"25812","ensembl":"ENSG00000128039","omim":"611715","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"18271001[PMID]_20637498[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18271001[PMID]_20637498[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-18","source":"27480077[PMID]_20637498[PMID]_18271001[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003642","label":"Type I transferrin isoform profile","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007766","label":"Optic disc hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002334","label":"Abnormality of the cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001976","label":"Reduced antithrombin III activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005585","label":"Spotty hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Excluded (0%)","criteria":null}]}}