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708 Possible Causes for Hypomyelinating Leukodystrophy

  • Hypomyelinating Leukodystrophy Type 5

    Hypomyelinating leukodystrophy 6 (HLD6) (OMIM 612438 ) (hypomyelination with atrophy of the basal ganglia and cerebellum syndrome (H-ABC)) caused by pathogenic variants in[ncbi.nlm.nih.gov] Reinisch & Pietro De Camilli Nature Cell Biology (2016) Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies Yurika Numata, Leo Gotoh, Akiko[nature.com] Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein Biancheri R, Scarf?"[disorders.eyes.arizona.edu]

  • Leukodystrophy

    Mutations in genes coding for Pol III subunits are a major cause of childhood-onset hypomyelinating leukodystrophies with prominent cerebellar dysfunction, oligodontia, and[ncbi.nlm.nih.gov] Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development.[ncbi.nlm.nih.gov] Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM: 616420).[ncbi.nlm.nih.gov]

  • Pelizaeus-Merzbacher Disease

    (disorder) HLD1 PMD Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher[wikidata.org] We report mutations in the thyroid hormone transporter gene MCT8 in 11% of 53 families affected by hypomyelinating leukodystrophies of unknown aetiology.[ncbi.nlm.nih.gov] Abstract Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 44

    Involvement in disease Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]; also known as Pelizaeus-Merzbacher-like disease autosomal[abcam.com] leukodystrophy 2 [AR] Spastic paraplegia 44 [AR] OMIM OMIM GK Glycerol kinase deficiency [XL] OMIM GLA Fabry disease [XL] GHR GeneReviews OMIM[genepeeks.com] Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2); also known as Pelizaeus-Merzbacher-like disease autosomal recessive type 1.[mybiosource.com]

  • Diomedi-Bernardi-Placidi Syndrome

    Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol. 2014;76(1):5-19.[plaza.umin.ac.jp] Leukodystrophy, Hypomyelinating, 15 Clinical Characteristics Ocular Features: Severe optic atrophy with marked vision loss is commonly present.[disorders.eyes.arizona.edu] Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.[plaza.umin.ac.jp]

  • Autosomal Recessive Primary Microcephaly Type 10

    Cataract Syndrome Leukodystrophy , Hypomyelinating, 5 Madras Motor Neuron Disease Mast Syndrome Microcephalic Primordial Dwarfism Due To Znf335 Deficiency Orofaciodigital[familydiagnosis.com] Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental[pubfacts.com] leukodystrophy type 10 with microcephaly .[worldwidescience.org]

  • Boucher-Neuhäuser Syndrome

    leukodystrophy Hypotonia I Inflammatory demyelinating neuropathy K Kufor-Rakeb syndrome L Lissencephaly Lowe oculocerebrorenal syndrome M Marinesco-Sjögren syndrome Menkes[genomediagnosticsnijmegen.nl] […] syndrome Friedreich Ataxia Frontotemporal dementia G GLUT1 deficiency syndrome Gyrate atrophy of choroid and retina H Hartsfield syndrome Hemiplegic migraine Hyperlysinemia Hypomyelinating[genomediagnosticsnijmegen.nl]

  • X-Linked Spastic Paraplegia Type 2

    Proteolipid protein 1 gene (PLP1) mutations result in a continuum of neurological findings characterized by X-linked hypomyelinating leukodystrophies of the central nervous[ncbi.nlm.nih.gov] leukodystrophy-4 AD, AR 18 KIF5A 602821 spastic paraplegia 10 AD 34 NIPA1 608145 spastic paraplegia type 6 AD 15 REEP1 609139 spastic paraplegia 31; Neuronopathy, distal[centogene.com] […] spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy AD, AR 16 HSPD1 118190 spastic paraplegia 13; hypomyelinating[centogene.com]

  • Autosomal Recessive Spastic Paraplegia Type 56

    A severe a utosomal recessive hypomyelinating leukodystrophy.[nectarmutation.org] Acetazolamide & Phenytoin Cognition: Impaired Laboratory EEG: Generalized slowing CSF Glucose & Lactate: Low Hypomyelinating Leukodystrophy 6 (HLD6; HABC) Sporadic, ?[neuromuscular.wustl.edu] leukodystrophy-4 AD, AR 18 KIF5A 602821 spastic paraplegia 10 AD 34 NIPA1 608145 spastic paraplegia type 6 AD 15 REEP1 609139 spastic paraplegia 31; Neuronopathy, distal[centogene.com]

  • Kallmann Syndrome Type 4

    Other names for 4H syndrome: Ataxia, Hypodontia and Hypomyelination (AHH) Ataxia, delayed dentition and Hypomyelination (ADD) Pol III – related Leukodystrophy[leukodystrophyresourceresearch.org] Incidence: It is believed to be very rare with a small number of people diagnosed but a significant number people with an unspecified hypomyelinating Leukodystrophy could[leukodystrophyresourceresearch.org]

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