{"orpha":932,"name":"Achondrogenesis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-932/","orphanet_url":"https://www.orpha.net/en/disease/detail/932","names":{"fr":{"name":"Achondrogenèse","definition":"Groupe de dysplasies squelettiques létales rares caractérisées par un défaut de l'ossification endochondrale conduisant à un retard statural et une micromélie sévères, un thorax de petite taille, un abdomen proéminent, une anasarque et un polyhydramnios. Sur les plans clinique, radiologique, histologique et génétique, on distingue 3 types d'achondrogenèses, à savoir, l'achondrogenèse type A1, type 1B et type 2."},"de":{"name":"Achondrogenesie","definition":"Eine seltene Gruppe letaler Skelettdysplasien, die durch einen Mangel an endochondraler Ossifikation gekennzeichnet sind, der zu Kleinwuchs mit extremer Mikromelie, einem kleinen Brustkorb, einem prominenten Abdomen, Anasarka und Polyhydramnion führt. Es gibt drei Arten von Achondrogenesie, die sich klinisch, radiologisch, histologisch und genetisch unterscheiden: Achondrogenesie Typ Ia, Typ Ib und Typ II."},"es":{"name":"Acondrogénesis","definition":"Es un grupo poco frecuente de displasias esqueléticas letales caracterizadas por una deficiencia de la osificación endocondral que conduce a enanismo con micromelia extrema, tórax pequeño, abdomen prominente, anasarca y polihidramnios. Existen tres tipos de acondrogénesis que difieren clínica, radiológica, histológica y genéticamente: acondrogénesis tipo 1a, tipo 1b y tipo 2."},"it":{"name":"Acondrogenesi"},"nl":{"name":"Achondrogenesie","definition":"Een zeldzame groep van letale skeletdysplasieën, gekarakteriseerd door deficiënte endochondrale ossificatie die leidt tot dwerggroei met extreme micromelie, kleine thorax, prominent abdomen, anasarca en polyhydramnion. Er bestaan drie types van achondrogenesie die klinisch, radiologisch, histologisch en genetisch verschillen: achondrogenesie type 1a, type 1 en type 2."},"pt":{"name":"Acondrogénese","definition":"Definição da doença: Um grupo raro de displasias esqueléticas letais caracterizadas por uma deficiência de ossificação endocondral que leva ao nanismo com micromelia extrema, tórax pequeno, abdómen proeminente, anasarca e polidrâmnio. Existem três tipos de acondrogénese que diferem clínica, radiológica, histológica e geneticamente: acondrogénese tipo 1a, tipo 1b e tipo 2."},"pl":{"name":"Achondrogeneza"},"cs":{"name":"Achondrogeneze"},"uk":{"name":"Ахондрогенез","definition":"A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2."},"zh":{"name":"软骨成长不全"},"tr":{"name":"Akondrogenez"}},"xrefs":[{"source":"OMIM","code":"200600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"200610","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600972","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD24.50","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"103965243"},{"source":"MONDO","code":"0019648","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C579878","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0001079","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2882","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066122","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93434,"name":"Spondylodysplastic dysplasia","classifications":[147,156,199]}],"children":[{"orpha":93299,"name":"Achondrogenesis type 1A","type":"Clinical subtype"},{"orpha":93298,"name":"Achondrogenesis type 1B","type":"Clinical subtype"},{"orpha":93296,"name":"Achondrogenesis type 2","type":"Clinical subtype"},{"orpha":93297,"name":"Hypochondrogenesis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"TRIP11","name":"thyroid hormone receptor interactor 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20089971[PMID]","hgnc":"12305","ensembl":"ENSG00000100815","omim":"604505","loci":["14q32.12"],"via":{"orpha":93299,"name":"Achondrogenesis type 1A"}},{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10797431[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"],"via":{"orpha":93296,"name":"Achondrogenesis type 2"}},{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10797431[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"],"via":{"orpha":93297,"name":"Hypochondrogenesis"}},{"symbol":"SLC26A2","name":"solute carrier family 26 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301689[PMID]","hgnc":"10994","ensembl":"ENSG00000155850","omim":"606718","loci":["5q32"],"via":{"orpha":93298,"name":"Achondrogenesis type 1B"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"France","status":"Validated","source":"2785882[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003336","label":"Abnormal enchondral ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004348","label":"Abnormality of bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Occasional (29-5%)","criteria":null}]}}