{"orpha":168577,"name":"Hereditary cryohydrocytosis with reduced stomatin","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CHC type 2","Hereditary cryohydrocytosis type 2","Stomatin-deficient cryohydrocytosis","sdCHC"],"definition":"A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168577/","orphanet_url":"https://www.orpha.net/en/disease/detail/168577","names":{"fr":{"name":"Cryohydrocytose héréditaire avec réduction de stomatine","synonyms":["CHC type 2","Cryohydrocytose avec déficit en stomatine","Cryohydrocytose héréditaire type 2","sdCHC"],"definition":"Anémie hémolytique rare caractérisée par une association d'anomalies neurologiques, telles qu'un retard psychomoteur, des convulsions, des troubles variables du mouvement et une anémie hémolytique avec stomatocytose, entraînant une fuite des cations dans les érythrocytes, une pseudohyperkaliémie, des crises hémolytiques et une hépatosplénomégalie. La cataracte fait partie des manifestations de la maladie."},"de":{"name":"Kryohydrozytose mit reduziertem Stomatin, hereditäre Form","synonyms":["CHC Typ 2","Hereditäre Kryohydrozytose Typ 2","Kryohydrozytose vom Stomatin-Mangeltyp","sdCHC"]},"es":{"name":"Criohidrocitosis hereditaria con estomatina reducida","synonyms":["CHC tipo 2","Criohidrocitosis deficiente en estomatina","Criohidrocitosis hereditaria tipo 2","sdCHC"],"definition":"Es una anemia hemolítica poco frecuente caracterizada por afectación neurológica como retraso psicomotor, convulsiones, trastornos del movimiento y anemia hemolítica con estomatocitosis, que da lugar a alteración de la permeabilidad eritrociatria a cationes, pseudohiperpotasemia, crisis hemolíticas y hepatoesplenomegalia. Las cataratas también constituyen un rasgo característico."},"it":{"name":"Crioidrocitosi ereditaria con riduzione della stomatina","synonyms":["CHC, tipo 2","Crioidrocitosi con deficit di stomatina","Crioidrocitosi ereditaria, tipo 2","sdCHC"],"definition":"La crioidrocitosi ereditaria associata ad una riduzione della stomatina è un'anemia emolitica rara, caratterizzata da sintomi neurologici, che comprendono il ritardo psicomotorio, le crisi epilettiche e i disturbi variabili del movimento, associati ad anemia emolitica con stomatocitosi, con conseguente perdita di cationi negli eritrociti, pseudoiperkaliemia, crisi emolitiche ed epatosplenomegalia. La cataratta è un segno d'esordio."},"nl":{"name":"Erfelijke cryohydrocytose met verminderd stomatine","synonyms":["CHC type 2","Erfelijke cryohydrocytose type 2","Stomatinedeficiënte cryohydrocytose","sdCHC"],"definition":"Erfelijke cryohydrocytose met verminderde stomatine is een zeldzame hemolytische anemie die gekarakteriseerd wordt door een combinatie van neurologische kenmerken, zoals psychomotorische achterstand, insulten, variabele bewegingsstoornissen, en hemolytische anemie met stomatocytose, en die leidt tot kation-lekkende erytrocyten, pseudo-hyperkaliëmie, hemolytische crisissen en hepatosplenomegalie. Cataracten zijn ook een presenterend kenmerk."},"pt":{"name":"Criohidrocitose hereditária com estomatina reduzida"},"pl":{"name":"Dziedziczna kriohydrocytoza z obniżonym poziomem stomatyny","synonyms":["CHC typu 2","Kriohydrocytoza dziedziczna typu 2","Kriohydrocytoza z niedoborem stomatyny","sdCHC"],"definition":"*Dziedziczna kriohydrocytoza z obniżonym stężeniem stomatyny jest rzadką niedokrwistością hemolityczną, która charakteryzuje się skojarzeniem objawów neurologicznych, takich jak opóźnienie psychoruchowe, drgawki oraz zmienne zaburzenia ruchowe z niedokrwistością hemolityczną z stomatocytozą, co prowadzi do zwiększonej przepuszczalności błon erytrocytów dla kationów, rzekomej hiperkaliemii, przełomów hemolitycznych oraz powiększenia wątroby i śledziony. Występuje również zaćma."},"cs":{"name":"Dědičná kryohydrocytóza s redukovaným stomatinem","synonyms":["CHC typ 2","Stomatin-deficientní kryohydrocytóza","sdCHC","Dědičná kryohydrocytóza, typ 2"]},"uk":{"name":"Спадковий кріогідроцитоз зі зниженим вмістом стоматину","synonyms":["CHC типу 2","Спадковий кріогідроцитоз типу 2","sdCHC","Стоматин-дефіцитний кріогідроцитоз"],"definition":"A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature."},"zh":{"name":"遗传性口形红细胞增多","synonyms":["红细胞膜整合蛋白缺乏型冷水化红细胞增多症"],"definition":"遗传性口形红细胞增多症伴红细胞膜整合蛋白减少是一种罕见的溶血性贫血，其主要临床表现为精神运动发育迟缓、惊厥、表型多样的运动障碍和伴有口形红细胞增多的溶血性贫血，溶血性贫血会导致红细胞阳离子渗透、假性高钾血症、溶血危象和肝脾肿大。白内障也是该病的特征"},"tr":{"name":"Azaltılmış stomatin ile seyreden kalıtsal kriyohidrositoz","synonyms":["sdCHC","CHC tip 2","Kalıtsal kriyohidrositoz tip 2","Stomatin-eksikliği olan kriyohidrositoz"]}},"xrefs":[{"source":"OMIM","code":"608885","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D58.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1459095719"},{"source":"MONDO","code":"0012143","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190707","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98365,"name":"Hereditary stomatocytosis","classifications":[156,194]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC2A1","name":"solute carrier family 2 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21791420[PMID]","hgnc":"11005","ensembl":"ENSG00000117394","omim":"138140","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22492876[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22492876[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-13","source":"7174793[PMID]_21791420[PMID]_15071792[PMID]_22492876[PMID]_15180870[PMID]","terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011972","label":"Hypoglycorrhachia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003575","label":"Increased intracellular sodium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005525","label":"Spontaneous hemolytic crises","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004446","label":"Stomatocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000475","label":"Broad neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012430","label":"Cerebral white matter hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002908","label":"Conjugated hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012695","label":"Decreased thalamic volume","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007229","label":"Intracerebral periventricular calcifications","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010920","label":"Zonular cataract","frequency":"Occasional (29-5%)","criteria":null}]}}