{"orpha":59,"name":"Allan-Herndon-Dudley syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AHDS","MCT8 deficiency","Monocarboxylate transporter 8 deficiency","X-linked intellectual disability-hypotonia syndrome"],"definition":"A rare X-linked syndromic intellectual disability with neuromuscular involvement characterized by a varying degree of neurodevelopmental delay including hypotonia, hypokinesia, dystonia and spasticity, and a wide range of clinical sequelae secondary to chronic peripheral thyrotoxicosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-59/","orphanet_url":"https://www.orpha.net/en/disease/detail/59","names":{"fr":{"name":"Syndrome d'Allan-Herndon-Dudley","synonyms":["Déficit en MCT8","Déficit en transporteur 8 de monocarboxylate","Syndrome de déficience intellectuelle liée à l'X-hypotonie"],"definition":"Déficience intellectuelle syndromique rare liée à l'X avec atteinte neuromusculaire caractérisée par un retard neurodéveloppemental de degré variable incluant hypotonie, hypokinésie, dystonie et spasticité, ainsi que de nombreuses séquelles cliniques secondaires à une thyrotoxicose périphérique chronique."},"de":{"name":"Allan-Herndon-Dudley-Syndrom","synonyms":["AHDS","MCT8-Mangel","Monocarboxylat-Transporter 8-Mangel","X-chromosomale Intelligenzminderung mit Hypotonie"],"definition":"Eine seltene X-chromosomale syndromale Form der Intelligenzminderung mit neuromuskulärer Beteiligung, die durch ein unterschiedliches Ausmaß an neurologischer Entwicklungsverzögerung, einschließlich Hypotonie, Hypokinese, Dystonie und Spastizität, sowie durch ein breites Spektrum klinischer Folgeerscheinungen als Folge einer chronischen peripheren Thyreotoxikose gekennzeichnet ist."},"es":{"name":"Síndrome de Allan-Herndon-Dudley","synonyms":["Deficiencia de MCT8","Deficiencia del transportador de monocarboxilato 8","SAHD","Síndrome de discapacidad intelectual-hipotonía ligado al cromosoma X"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X con afectación neuromuscular caracterizada por un grado variable de retraso del desarrollo neurológico que incluye hipotonía, hipocinesia, distonía y espasticidad, así como una amplia gama de secuelas clínicas secundarias a tirotoxicosis periférica crónica."},"it":{"name":"Sindrome di Allan-Herndon-Dudley","synonyms":["AHDS","Deficit del trasportatore 8 dei monocarbossilati","Deficit di MCT8","Sindrome disabilità intellettiva legata all'X-ipotonia"],"definition":"La sindrome di Allan-Herndon-Dudley (AHDS) è una malattia da disabilità intellettiva legata all'X con interessamento neuromuscolare, caratterizzata da ipotonia infantile, ipoplasia dei muscoli, paraparesi spastica con movimenti distonici/atetosici e grave deficit cognitivo."},"nl":{"name":"Syndroom van Allan-Herndon-Dudley","synonyms":["AHDS","MCT8-deficiëntie","Monocarboxylaat-transporter 8-deficiëntie","X-gebonden intellectuele achterstand - hypotonie-syndroom"],"definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand met neuromusculaire betrokkenheid, gekenmerkt door een variabele mate van neurologische ontwikkelingsachterstand, met onder meer hypotonie, hypokinesie, dystonie en spasticiteit, en een brede waaier van klinische restverschijnselen secundair aan chronische perifere thyreotoxicose."},"pt":{"name":"Síndrome Allan-Herndon-Dudley","synonyms":["AHDS","Deficiência MCT8","Deficiência do transportador de monocarboxilato 8","Síndrome de perturbação do desenvolvimento intelectual ligado ao X-hipotonia"],"definition":"Perturbação do desenvolvimento intelectual rara sindrómica ligada ao cromossoma X, com envolvimento neuromuscular, caracterizada por graus variáveis de compromisso no desenvolvimento neurológico, incluindo hipotonia, hipocinesia, distonia e espasticidade, e uma ampla gama de sequelas clínicas secundárias à tirotoxicose periférica crónica."},"pl":{"name":"Zespół Allana, Herndona i Dudley'a","synonyms":["AHDS","Niedobór MCT8","Niedobór transportera jednowęglanów 8","Niepełnosprawność intelektualna sprzężona z chromosomem X - hipotonia"]},"cs":{"name":"Allanův-Herndonův-Dudleyův syndrom","synonyms":["AHDS","Deficit MCT8","Deficit monokarboxylátového transportéru 8","Syndrom zahrnující X-vázané mentální postižení a hypotonii","Allan-Herndon-Dudleyův syndrom"]},"uk":{"name":"Синдром Аллана-Херндона-Дадлі","synonyms":["AHDS","Дефіцит MCT8","Дефіцит монокарбоксилатного транспортера 8","Х-зчеплений синдром інтелектуальної недостатності-гіпотонії"],"definition":"An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency."},"zh":{"name":"Allan-Herndon-Dudley综合征","synonyms":["X连锁智力障碍-肌张力低下综合征"]},"tr":{"name":"Allan-Herndon-Dudley sendromu","synonyms":["AHDS","MCT8 eksikliği","Monokarboksilat taşıyıcı 8 eksikliği","X'e bağlı zihinsel yetersizlik-hipotoni sendromu"]}},"xrefs":[{"source":"OMIM","code":"300523","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E03.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"56813604"},{"source":"MONDO","code":"0010354","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537047","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795889","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5617","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078821","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":85337,"name":"X-linked intellectual disability, Zorick type","status":"inactive"},{"type":"Moved to","orpha":163982,"name":"X-linked intellectual disability-spastic quadriparesis syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320350,"name":"Pure or complex X-linked spastic paraplegia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":596426,"name":"Syndrome of reduced sensitivity to thyroid hormone","classifications":[156,193]}],"children":[],"genes":[{"symbol":"SLC16A2","name":"solute carrier family 16 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301789[PMID]_18398436[PMID]","hgnc":"10923","ensembl":"ENSG00000147100","omim":"300095","loci":["Xq13.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":320.0,"area":"Worldwide","status":"Validated","source":"25905294[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25905294[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medecines Agency 2017[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-06-23","source":"20301789[PMID]","terms":[{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002926","label":"Abnormality of thyroid physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045082","label":"Decreased body mass index","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011788","label":"Increased circulating free T3","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004488","label":"Macrocephaly at birth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very rare (<4-1%)","criteria":null}]}}