{"orpha":280234,"name":"Null syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PLP1 null syndrome","Pelizaeus-Merzbacher disease, null syndrome"],"definition":"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280234/","orphanet_url":"https://www.orpha.net/en/disease/detail/280234","names":{"fr":{"name":"Maladie de Pelizaeus-Merzbacher par mutation non-sens de PLP1","definition":"La mutation non-sens de PLP1 fait partie du spectre de la maladie de Pelizaeus-Merzbacher et est caractérisée par les traits caractéristiques atténués de la maladie de PM associés à une neuropathie périphérique démyélinisante."},"de":{"name":"Null-Syndrom","synonyms":["PLP1-Null-Syndrom","Pelizaeus-Merzbacher-Krankheit, null-Form"],"definition":"Das Null-Syndrom ist Teil des Spektrums der Pelizaeus-Merzbacher-Krankheit (PMD; s. dort) und gekennzeichnet durch milde PMD-Symptome in Verbindung mit demyelinisierender peripherer Neuropathie."},"es":{"name":"Síndrome nulo","synonyms":["Enfermedad de Pelizaeus-Merzbacher, síndrome nulo","Síndrome nulo PLP1"],"definition":"El síndrome nulo forma parte del espectro de la enfermedad de Pelizaeus-Merzbacher (PMD; consulte este término), y se caracteriza por signos leves de la PMD asociados a una neuropatía periférica desmielinizante."},"it":{"name":"Sindrome null","synonyms":["Malattia di Pelizaeus-Merzbacher, sindrome null","Sindrome PLP1-null"],"definition":"La sindrome null fa parte dello spettro della malattia di Pelizaeus-Merzbacher (PMD; si veda questo termine) ed è caratterizzata dai segni lievi della PMD associati a neuropatia periferica demielinizzante."},"nl":{"name":"Nulsyndroom","synonyms":["PLP1-nulsyndroom","Ziekte van Pelizaeus-Merzbacher, nulsyndroom"],"definition":"Het nulsyndroom maakt deel uit van het spectrum van de ziekte van Pelizaeus-Merzbacher (PMD; zie deze term) en is gekenmerkt door milde kenmerken van PMD gekoppeld aan neuropathie door demyelinisatie van de perifere zenuwen."},"pt":{"name":"Síndrome 'null'","synonyms":["Doença de Pelizaeus-Merzbacher, síndrome 'null'","Síndrome 'null' PLP1"],"definition":"A síndrome nula é parte do espectro da doença de Pelizaeus-Merzbacher (PMD; ver este termo) e é caracterizada por manifestações ligeiras da PMD associadas a neuropatia periférica desmielinizante."},"pl":{"name":"Zespół Null","synonyms":["Choroba Pelizaeusa i Merzbachera, zespół null","Zespół plP1 null"]},"cs":{"name":"Nulový syndrom","synonyms":["PLP1 nulový syndrom","Pelizaeusova-Merzbacherova nemoc, nulový syndrom","Pelizaeus-Merzbacherova nemoc, nulový syndrom"]},"uk":{"name":"Нуль синдром","synonyms":["Хвороба Пеліцея-Мерцбахера, нульовий синдром","Нульовий синдром PLP1"],"definition":"The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy."},"zh":{"name":"无PLP1综合征","synonyms":["Pelizaeus-Merzbacher病null综合征"],"definition":"无效综合征是Pelizaeus-Merzbacher病（PMD；见本术语）谱系的一部分，其特征是与脱髓鞘性周围神经病相关的轻度PMD。"},"tr":{"name":"Boş sendrom","synonyms":["PLP1 null sendromu","Pelizaeus-Merzbacher hastalığı, null sendromu"]}},"xrefs":[{"source":"OMIM","code":"312080","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1663254692"},{"source":"MONDO","code":"0017225","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5439441","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":702,"name":"Pelizaeus-Merzbacher disease","classifications":[156,181,189]}],"children":[],"genes":[{"symbol":"PLP1","name":"proteolipid protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301361[PMID]","hgnc":"9086","ensembl":"ENSG00000123560","omim":"300401","loci":["Xq22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-07","source":"32809357[PMID]_22343157[PMID]_20301361[PMID]","terms":[{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011096","label":"Peripheral demyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002478","label":"Progressive spastic quadriplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Excluded (0%)","criteria":null}]}}