{"orpha":597874,"name":"MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-597874/","orphanet_url":"https://www.orpha.net/en/disease/detail/597874","names":{"fr":{"name":"Syndrome de retard de développement-microcéphalie-petite taille-épilepsie associé à MTHFS","definition":"Maladie neurométabolique rare, d'origine génétique, caractérisée par une microcéphalie, une petite taille, une épilepsie, une hypomyélinisation cérébrale, un retard de développement global sévère et une spasticité progressive. Des cas d'anémie macrocytaire et d'hyperthermie ont également été rapportés en association. L'imagerie cérébrale met en évidence un retard de myélinisation avec une progression minime dans le temps, une atrophie cérébelleuse légère et/ou un corps calleux fin."},"de":{"name":"MTHFS-assoziierte Entwicklungsverzögerung-Mikrozephalie-Kleinwuchs-Epilepsie-Syndrom","definition":"Eine seltene genetisch bedingte neurometabolische Störung, die durch Mikrozephalie, Kleinwuchs, Epilepsie, zerebrale Hypomyelinisierung, schwere globale Entwicklungsverzögerung und progressive Spastik gekennzeichnet ist. Makrozytäre Anämie und Hyperthermie wurden ebenfalls in Verbindung mit dieser Krankheit berichtet. Die Bildgebung des Gehirns zeigt eine verzögerte Myelinisierung mit minimaler Progression im Laufe der Zeit, eine leichte Atrophie des Kleinhirns und/oder ein dünnes Corpus Callosum."},"es":{"name":"Síndrome de retraso del desarrollo-microcefalia-talla baja-epilepsia asociado a MTHFS","definition":"Es una enfermedad neurometabólica poco frecuente de origen genético caracterizada por microcefalia, talla baja, epilepsia, hipomielinización cerebral, retraso grave del desarrollo global y espasticidad progresiva. También se han descrito asociaciones con anemia macrocítica e hipertermia. Las neuroimágenes revelan retraso del proceso de mielinización con progresión mínima en el tiempo, atrofia cerebelosa leve y/o adelgazamiento del cuerpo calloso."},"it":{"name":"Sindrome da ritardo dello sviluppo, microcefalia, bassa statura ed epilessia correlata a MTHFS"},"nl":{"name":"MTHFS-gerelateerd syndroom van ontwikkelingsachterstand - microcefalie - kleine gestalte - epilepsie","definition":"Een zeldzame, genetische neurometabole aandoening, gekenmerkt door microcefalie, kleine gestalte, epilepsie, cerebrale hypomyelinisatie, ernstige algehele ontwikkelingsachterstand, en progressieve spasticiteit. Associatie van macrocytaire anemie en hyperthermie werd ook reeds gerapporteerd. Beeldvorming van hersenen toont vertraagde myelinisatie met minimale progressie in de loop van de tijd, milde cerebellaire atrofie en/of dun corpus callosum."},"pt":{"name":"Síndrome de perturbação do desenvolvimento-microcefalia-baixa estatura-epilepsia MTHFS-relacionada","definition":"Doença neurometabólica, rara e genética caracterizada por microcefalia, baixa estatura, epilepsia, hipomielinização cerebral, atraso global do desenvolvimento grave e espasticidade progressiva. Anemia macrocítica e hipertermia também foram descritas em associação. A imagiologia cerebral revela atraso da mielinização com progressão mínima ao longo do tempo, atrofia cerebelosa ligeira e/ou corpo caloso fino."},"pl":{"name":"Zespół opóźnionego rozwoju, małogłowia, niskiego wzrostu oraz padaczki związany z MTHFS","definition":"Rzadka, genetycznie uwarunkowana choroba neurometaboliczna, charakteryzująca się małogłowiem, niskim wzrostem, epilepsją, hipomielinizacją mózgu, poważnym globalnym opóźnieniem rozwoju i postępującą spastycznością. Zgłaszano współistnienie niedokrwistości makrocytarnej i hipertermii. W badaniach obrazowych mózgu widoczna jest opóźniona mielinizację z minimalną progresją z upływem czasu, łagodny zanik móżdżku i/lub cienkie ciało modzelowate."},"cs":{"name":"Syndrom zahrnující vývojové opoždění související s MTHFS, mikrocefalii, nízký vzrůst a epilepsii"},"uk":{"name":"MTHFS-повязаний синдром затримки розвитку-мікроцефалії-низькорослості-епілепсії","definition":"A rare, genetic, neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum."},"zh":{"name":"MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome"},"tr":{"name":"MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome"}},"xrefs":[{"source":"OMIM","code":"618367","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0032705","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5193057","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":285657,"name":"Disorder of folate metabolism and transport","classifications":[150,156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":225713,"name":"Other metabolic disease with epilepsy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MTHFS","name":"methenyltetrahydrofolate synthetase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30031689[PMID]","hgnc":"7437","ensembl":"ENSG00000136371","omim":"604197","loci":["15q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"30031689[PMID]_31844630[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30031689[PMID]_31844630[PMID]_ORPHANET"}],"phenotypes":null}