{"orpha":436174,"name":"Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAGSSS"],"definition":"A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436174/","orphanet_url":"https://www.orpha.net/en/disease/detail/436174","names":{"fr":{"name":"Syndrome de cataracte-insuffisance somatotrope-neuropathie sensorielle-surdité neurosensorielle-dysplasie squelettique","synonyms":["CAGSSS","Syndrome de cataracte-déficit en hormone de croissance-neuropathie sensorielle-surdité neurosensorielle-dysplasie squelettique"],"definition":"Maladie mitochondriale rare caractérisée par un spectre phénotypique très variable incluant un retard de développement moteur, une neuropathie périphérique, une cataracte, une petite taille due à un déficit en hormone de croissance, un nystagmus, une perte auditive neurosensorielle, une dysmorphie faciale et des malformations squelettiques correspondant à une dysplasie spondyloépimétaphysaire. Une hyperextensibilité articulaire, une achalasie et une télangiectasie ont également été décrites. La cognition est normale. L'IRM révèle une atrophie de l'hypophyse."},"de":{"name":"Katarakt-Wachstumshormonmangel-sensorische Neuropathie-sensorineurale Schwerhörigkeit-Skelettdysplasie-Syndrom","synonyms":["CAGSSS"],"definition":"Eine seltene mitochondriale Störung, mit einem sehr variablen phänotypischen Spektrum, das eine verzögerte motorische Entwicklung, periphere Neuropathie, Katarakt, Kleinwuchs durch Wachstumshormonmangel, Nystagmus, Schallempfindungsschwerhörigkeit, Gesichtsdysmorphien und Skelettanomalien im Sinne einer spondyloepimetaphysären Dysplasie umfasst. Hyperextensible Gelenke, Achalasie und Teleangiektasie sind ebenfalls beschrieben worden. Die Kognition ist normal. In der zerebralen Bildgebung wurde eine Atrophie der Hypophyse festgestellt."},"es":{"name":"Síndrome de catarata-deficiencia de hormona de crecimiento-neuropatía sensitiva-hipoacusia neurosensorial-displasia esquelética","synonyms":["CAGSSS"],"definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por un espectro fenotípico muy variable que comprende retraso del desarrollo motor, neuropatía periférica, cataratas, talla baja debido a una deficiencia de la hormona del crecimiento, nistagmo, pérdida auditiva neurosensorial, rasgos faciales dismórficos y anomalías esqueléticas compatibles con displasia espondiloepimetafisaria. También se ha descrito articulaciones hiperextensibles, acalasia y telangiectasia. La cognición es normal. Además se ha observado atrofia de la hipófisis en la neuroimagen."},"it":{"name":"Sindrome cataratta-deficit dell'ormone della crescita-neuropatia sensoriale-sordità neurosensoriale-displasia scheletrica","synonyms":["CAGSSS"],"definition":"Si tratta di una malattia mitocondriale rara, caratterizzata da un quadro clinico molto variabile che comprende il ritardo dello sviluppo motorio, la neuropatia periferica, la cataratta, la bassa statura secondaria al deficit dell'ormone della crescita, il nistagmo, la sordità neurosensoriale, i dismorfismi facciali e le anomalie scheletriche coerenti con la displasia spondiloepimetafisaria. I pazienti possono presentare anche iperlassità articolare, acalasia e telangectasia. L'intelligenza è normale. Le neuroimmagini rivelano l'atrofia dell'ipofisi."},"nl":{"name":"Cataract - deficiëntie van groeihormoon - sensorische neuropathie - sensorineuraal gehoorverlies - skeletdysplasie-syndroom","synonyms":["CAGSSS"],"definition":"Een zeldzame mitochondriale aandoening, gekarakteriseerd door een zeer variabel fenotypisch spectrum bestaande uit motorische ontwikkelingsachterstand, perifere neuropathie, cataract, kleine gestalte door deficiëntie van groeihormoon, nystagmus, sensorineuraal gehoorverlies, dysmorfe gelaatskenmerken, en skeletanomalieën die consistent zijn met spondylo-epimetafysaire dysplasie. Hypermobiele gewrichten, achalasie, en teleangiëctasie werden ook reeds beschreven. Cognitie is normaal. Atrofie van hypofyse werd waargenomen bij beeldvorming van hersenen."},"pt":{"name":"Síndrome de catarata-deficiência de hormona de crescimento-neuropatia sensitiva-perda auditiva neurossensorial-displasia esquelética"},"pl":{"name":"Zespół zaćmy, niedoboru hormonu wzrostu, neuropatii czuciowej, czuciowo-nerwowej utraty słuchu i dysplazji szkieletowej","synonyms":["CAGSSS"]},"cs":{"name":"Syndrom zahrnující kataraktu, deficit růstového hormonu, senzorickou neuropatii, senzorineurální ztrátu sluchu a kostní dysplázii","synonyms":["CAGSSS"]},"uk":{"name":"Синдром катаракти-дефіциту гормону росту-сенсорної нейропатії-сенсоневральної приглухуватості-скелетної дисплазії","synonyms":["CAGSSS"],"definition":"A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging."},"zh":{"name":"白内障-生长激素缺乏症-感觉神经病-感觉神经性听力减退-骨骼发育不良综合征","synonyms":["CAGSSS"],"definition":"一种罕见的线粒体疾病，其表型谱具有高度可变性，包括运动发育迟缓，周围神经病变，白内障，由于生长激素缺乏引起的身材矮小，眼球震颤，感觉神经性听力减退，面部畸形和与脊椎干骺端发育不良相符的骨骼异常。可过度伸展的关节，门失弛缓症和毛细血管扩张被报道。认知功能是正常的。在脑影像中可观察到垂体的萎缩。"},"tr":{"name":"Katarakt-büyüme hormonu eksikliği-duyusal nöropati-sensörinöral işitme kaybı-iskelet displazi sendromu","synonyms":["CAGSSS"]}},"xrefs":[{"source":"OMIM","code":"616007","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Z","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014455","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014942","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":156643,"name":"Genetic endocrine growth disease","classifications":[156]},{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":90692,"name":"Rare endocrine growth disease","classifications":[193]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"IARS2","name":"isoleucyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25130867[PMID]","hgnc":"29685","ensembl":"ENSG00000067704","omim":"612801","loci":["1q41"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25130867[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25130867[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-09-23","source":"25130867[PMID]_8409271[PMID]","terms":[{"hpo":"HP:0002571","label":"Achalasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008445","label":"Cervical spinal canal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007470","label":"Periarticular subcutaneous nodules","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000399","label":"Prelingual sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002655","label":"Spondyloepiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005659","label":"Thoracic kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null}]}}