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463 Possible Causes for Hypomyelinating Leukoencephalopathy

  • Autosomal Recessive Spastic Paraplegia Type 44

    Spastic paraplegia type 44, AR (SPG44, sequence analysis of GJC2 gene) This is a clinical test intended for Help Purposes or indications for the test. Lab-provided. : Diagnosis 1 condition tested. Click Indication tab for more information. Spastic paraplegia 44, autosomal recessive (SPG44) Molecular Genetics C Sequence[…][ncbi.nlm.nih.gov]

  • Hypomyelinating Leukodystrophy Type 5

    […] distinction of HCC from other forms of hypomyelinating leukoencephalopathies.[ncbi.nlm.nih.gov] […] of the basal ganglia and cerebellum. 3 However, hypomyelinating disorders still represent the largest single category among unclassified leukoencephalopathies. 1 Hypomyelination[ajnr.org] Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. Neurology 2014; 82: 2230-7.[plaza.umin.ac.jp]

  • Pelizaeus-Merzbacher Disease

    Hypomyelinating leukoencephalopathy is a heterogeneous disorder caused by mutations in several-different genes.[ncbi.nlm.nih.gov] BACKGROUND: Among the hypomyelinating leukoencephalopathies with onset in childhood, Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD) constitute[ncbi.nlm.nih.gov] […] or dysmyelinating. [2] PMD is a hypomyelinating leukoencephalopathy and close clinico-radiological differentials are Pelizaeus-Merzbacher-like disorder (PMLD) and Salla disease[annalsofian.org]

  • Haddad Syndrome

    Shimbo H, Ninomiya S, Kurosawa K, Wada T Journal of human genetics 59(7) 408-410 2014年7月 [査読有り] Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies[researchmap.jp] Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.[kyouindb.iimc.kyoto-u.ac.jp] leukoencephalopathies.[kyouindb.iimc.kyoto-u.ac.jp]

  • Familial Hypercholesterolemia

    , 2 1 Leukodystrophy, Hypomyelinating, 4 1 Leukoencephalopathy With Vanishing White Matter 9 Leydig Cell Hypoplasia, Type I 1 Li-Fraumeni Syndrome 15 Li-Fraumeni Syndrome[preventiongenetics.com] Congenital Contracture Syndrome 1 4 Lethal Congenital Contracture Syndrome 5 1 Lethal Multiple Pterygium Syndrome 6 Leukocyte Adhesion Deficiency, Type III 1 Leukodystrophy, Hypomyelinating[preventiongenetics.com]

  • Hereditary North American Indian Childhood Cirrhosis

    Saitsu H, Osaka H, Sasaki M et al. (2011) Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal‐recessive hypomyelinating leukoencephalopathy[els.net]

  • Retinitis Pigmentosa

    leukoencephalopathies , see TUBB4A-related leukodystrophy TUBB4A-related hypomyelinating leukodystrophy , see TUBB4A-related leukodystrophy TUBB4A-related leukodystrophy[herenciageneticayenfermedad.blogspot.com] , see Turner syndrome TSD , see Tay-Sachs disease TSEs , see Prion disease TTD , see Trichothiodystrophy TTP , see Thrombotic thrombocytopenic purpura TUBB4A-associated hypomyelinating[herenciageneticayenfermedad.blogspot.com]

  • Progressive Myoclonic Epilepsy Type 3

    […] type 8 POLR3B Leukodystrophy hypomyelinating type 9 RARS Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation DARS2 Leukoencephalopathy with[centogene.com] […] type 4 HSPD1 Leukodystrophy hypomyelinating type 5 FAM126A Leukodystrophy hypomyelinating type 6 TUBB4A Leukodystrophy hypomyelinating type 7 POLR3A Leukodystrophy hypomyelinating[centogene.com] […] syndrome HPRT1 Leukodystrophy demyelinating adult-onset, autosomal dominant LMNB1 Leukodystrophy hypomyelinating GJC2 Leukodystrophy hypomyelinating type 3 AIMP1 Leukodystrophy hypomyelinating[centogene.com]

  • Unverricht-Lundborg Syndrome

    […] type 8 POLR3B Leukodystrophy hypomyelinating type 9 RARS Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation DARS2 Leukoencephalopathy with[centogene.com] […] type 4 HSPD1 Leukodystrophy hypomyelinating type 5 FAM126A Leukodystrophy hypomyelinating type 6 TUBB4A Leukodystrophy hypomyelinating type 7 POLR3A Leukodystrophy hypomyelinating[centogene.com] […] syndrome HPRT1 Leukodystrophy demyelinating adult-onset, autosomal dominant LMNB1 Leukodystrophy hypomyelinating GJC2 Leukodystrophy hypomyelinating type 3 AIMP1 Leukodystrophy hypomyelinating[centogene.com]

  • Progressive Myoclonic Epilepsy Type 8

    […] type 8 POLR3B Leukodystrophy hypomyelinating type 9 RARS Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation DARS2 Leukoencephalopathy with[centogene.com] […] type 4 HSPD1 Leukodystrophy hypomyelinating type 5 FAM126A Leukodystrophy hypomyelinating type 6 TUBB4A Leukodystrophy hypomyelinating type 7 POLR3A Leukodystrophy hypomyelinating[centogene.com] […] syndrome HPRT1 Leukodystrophy demyelinating adult-onset, autosomal dominant LMNB1 Leukodystrophy hypomyelinating GJC2 Leukodystrophy hypomyelinating type 3 AIMP1 Leukodystrophy hypomyelinating[centogene.com]

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