Create issue ticket

1,036 Possible Causes for Pelizaeus-Merzbacher Disease

  • Hypomyelinating Leukodystrophy Type 5

    Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. Semin Neurol. 2012;32:62–67. Grossi S et al.[rarediseases.org] Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination. Neurology 2005 ; 65 : 701 –06 Varho T, Komu M, Sonninen P, et al.[ajnr.org] ) no typical peripheral nervous system involvement Pelizaeus-Merzbacher disease and Pelizaeus-Merzbacher like disease Tay syndrome (trichothiodystrophy with hypersensitivity[radiopaedia.org]

  • Pelizaeus-Merzbacher Disease

    […] type PELIZAEUS-MERZBACHER DISEASE PELIZAEUS-MERZBACHER DISEASE; PMD Pelizaeus Merzbacher disease Leukodystrophy, Hypomyelinating, 1[wikidata.org] "Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-Like Disease 1, and Related Hypomyelinating Disorders".[en.wikipedia.org] In most cases, Pelizaeus-Merzbacher disease is caused by mutations of PLP1 on the long arm of the X chromosome (Xq22).[emedicine.com]

  • Leukodystrophy

    Krabbes disease Metachromatic leucodystrophy (disorder) Metachromatic leukodystrophy Pelizaeus Merzbacher disease Pelizaeus-Merzbacher disease Spongy degeneration of central[icd9data.com] […] nervous system Applies To Krabbe's disease Leukodystrophy: NOS globoid cell metachromatic sudanophilic Pelizaeus-Merzbacher disease Sulfatide lipidosis ICD-9-CM Volume 2[icd9data.com] Specific leukodystrophies include metachromatic leukodystrophy, Krabbé disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with[ninds.nih.gov]

  • X-Linked Spastic Paraplegia Type 2

    Abstract Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are two sides of the same coin.[ncbi.nlm.nih.gov] Abstract Pelizaeus-Merzbacher disease (PMD) and its allelic disorder, spastic paraplegia type 2 (SPG2), are among the best-characterized dysmyelinating leukodystrophies of[ncbi.nlm.nih.gov] disease.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 44

    Disease description An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease.[uniprot.org] Hudson LD: Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. J Child Neurol 2003, 18 :616–624.[link.springer.com] Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.[mybiosource.com]

  • Diomedi-Bernardi-Placidi Syndrome

    Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. Seminars in neurology. 2012;32(1):62-7. Barkovich AJ, Deon S.[plaza.umin.ac.jp] These genes cause primarily complicated forms of HSP, including X-linked intellectual disability – Claes-Jensen type, L1 syndrome, Pelizaeus-Merzbacher disease, MCT8-specific[invitae.com] […] kinky hair, metaphyseal changes, limited spontaneous movement, hypertonicity, seizures, hypothermia, lethargy, arterial tortuosity, death in early childhood ATP7A, Xpl3.3 PelizaeusMerzbacher[pediatrics.aappublications.org]

  • Adult Krabbe Disease

    (CTX), Globoid Cell (Krabbes) Leukodystrophy, Metachromatic Leukodystrophy (MLD), Ovarioleukodystrophy, Pelizaeus-Merzbacher Disease, Refsum Disease, van der Knaap syndrome[kumc.edu] ペリツェウス・メルツバッハー Pelizaeus-Merzbacher disease ペリツェウス・メルツバッハー病 Perthes ペルテス Perthes disease ペルテス病 GeorgClemens Perthes (1869-1927) German surgeon Peutz-Jegher ポイツ・ジェガース Peutz-Jeghers[jams.med.or.jp] , CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts & Leukoencephalopathy), Canavan Disease (Spongy Degeneration), Cerebrotendinous Xanthomatosis[kumc.edu]

  • X-linked Spastic Paraplegia Type 16

    SPG2 is allelic to the more severe Pelizaeus-Merzbacher disease ( 312080 ).[disorders.eyes.arizona.edu] Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. J Child Neurol. 2003 Sep;18(9):616-24. Review.[ghr.nlm.nih.gov] These genes cause primarily complicated forms of HSP, including X-linked intellectual disability – Claes-Jensen type, L1 syndrome, Pelizaeus-Merzbacher disease, MCT8-specific[invitae.com]

  • Autosomal Recessive Spastic Paraplegia Type 18

    PMD can be classified into different types: Pelizaeus Merzbacher disease, PMD: an X-linked recessive disease with the mutation at Xq22. [ 2 ] Pelizaeus Merzbacher disease,[patient.info] Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. J Child Neurol. 2003 Sep;18(9):616-24. Review.[ghr.nlm.nih.gov] Interestingly, duplications of this gene give rise to the congenital hipomyelinating Pelizaeus-Merzbacher disease 25.[scielo.br]

  • 17q11 Microdeletion Syndrome

    […] syndrome 8q23.3-q24.11 deletion Leri-Weill dyschondrosteosis Xp22.33/Yp11.32 Miller-Dieker lissencephaly syndrome 17p13.3 deletion Nephronophthisis 1 2q13 homozygous deletion Pelizaeus-Merzbacher[chginc.org] OMIM 115470) DiGeorge syndrome (22q11.2 deletion syndrome; OMIM 188400) 22q11.2 duplication syndrome (OMIM 608363) Velocardiofacial (22q11.2 deletion syndrome; OMIM 192430) Pelizaeus-Merzbacher[viapath.co.uk] Russell-Silver Syndrome (RSS) 11p15 region, H19, IGF2, CDKN1C, KCNQ1 P015-MECP2 RETT syndrome MECP2, Xq28 P018-SHOX CE Idiopathic growth retardation SHOX-Xp22 P022 -PLP1 Pelizaeus-Merzbacher[gen-diagnostics.com]

Further symptoms