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Condition report · Neurological

Leukodystrophy

Inherited conditions that affect the white matter (myelin) of the brain and spinal cord and are not covered by a dedicated report, such as Sjogren-Larsson syndrome and rare mitochondrial and other leukoencephalopathies. X-linked adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy, Canavan disease, Alexander disease, Pelizaeus-Merzbacher and hypomyelinating leukodystrophies, vanishing white matter disease, MLC, adult-onset leukodystrophies, Zellweger spectrum disorders, cerebrotendinous xanthomatosis, Aicardi-Goutieres syndrome and CADASIL have their own reports.

A condition report looks for rare variants known to cause the conditions it covers.

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Leukodystrophy (other and unspecified types)

Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

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Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

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Más néven

hypomyelinating leukodystrophy; hypomyelinating leukoencephalopathy

176 kapcsolódó altípust tartalmaz ↓
  • AARS1-related leukoencephalopathy
  • adrenoleukodystrophy
  • adrenomyeloneuropathy
  • adult Krabbe disease
  • adult Refsum disease due to PEX7 defect
  • adult-onset autosomal dominant demyelinating leukodystrophy
  • adult-onset progressive leukoencephalopathy-early-onset deafness
  • Aicardi-Goutieres syndrome
  • Aicardi-Goutieres syndrome 1
  • Aicardi-Goutieres syndrome 2
  • Aicardi-Goutieres syndrome 3
  • Aicardi-Goutieres syndrome 4
  • Aicardi-Goutieres syndrome 5
  • Aicardi-Goutieres syndrome 6
  • Aicardi-Goutieres syndrome 7
  • Aicardi-Goutieres syndrome 8
  • Aicardi-Goutieres syndrome 9
  • Alexander disease
  • Alexander disease type I
  • Alexander disease type II
  • alkaline ceramidase 3 deficiency
  • basal ganglia calcification, idiopathic, childhood-onset
  • BLOC1S1-related complex neurodevelopmental disorder with leukodystrophy
  • c11orf73-related autosomal recessive hypomyelinating leukodystrophy
  • CADDS
  • Canavan disease
  • cerebrotendinous xanthomatosis
  • congenital or early infantile CACH syndrome
  • cystic leukoencephalopathy without megalencephaly
  • dermatoleukodystrophy
  • developmental and epileptic encephalopathy, 29
  • early-onset calcifying leukoencephalopathy-skeletal dysplasia
  • episodic memory defect leukoencephalopathy
  • hereditary spastic paraplegia 2
  • hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
  • hypomyelination with brain stem and spinal cord involvement and leg spasticity
  • hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
  • infantile Krabbe disease
  • isolated adrenal insufficiency
  • juvenile or adult CACH syndrome
  • Krabbe disease
  • late infantile CACH syndrome
  • late-infantile/juvenile Krabbe disease
  • leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy
  • leukodystrophy, childhood-onset, remitting
  • leukodystrophy, demyelinating, adult-onset
  • leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical
  • leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical
  • leukodystrophy, hypomyelinating, 10
  • leukodystrophy, hypomyelinating, 11
  • leukodystrophy, hypomyelinating, 12
  • leukodystrophy, hypomyelinating, 13
  • leukodystrophy, hypomyelinating, 14
  • leukodystrophy, hypomyelinating, 15
  • leukodystrophy, hypomyelinating, 16
  • leukodystrophy, hypomyelinating, 17
  • leukodystrophy, hypomyelinating, 18
  • leukodystrophy, hypomyelinating, 19, transient infantile
  • leukodystrophy, hypomyelinating, 2
  • leukodystrophy, hypomyelinating, 20
  • leukodystrophy, hypomyelinating, 21
  • leukodystrophy, hypomyelinating, 22
  • leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
  • leukodystrophy, hypomyelinating, 24
  • leukodystrophy, hypomyelinating, 25
  • leukodystrophy, hypomyelinating, 26, with chondrodysplasia
  • leukodystrophy, hypomyelinating, 27
  • leukodystrophy, hypomyelinating, 28
  • leukodystrophy, hypomyelinating, 3
  • leukodystrophy, hypomyelinating, 4
  • leukodystrophy, hypomyelinating, 5
  • leukodystrophy, hypomyelinating, 6
  • leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
  • leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
  • leukodystrophy, hypomyelinating, 9
  • leukoencephalopathy with bilateral anterior temporal lobe cysts
  • leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
  • leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • leukoencephalopathy with vanishing white matter
  • leukoencephalopathy with vanishing white matter 1
  • leukoencephalopathy with vanishing white matter 2
  • leukoencephalopathy with vanishing white matter 3
  • leukoencephalopathy with vanishing white matter 4
  • leukoencephalopathy with vanishing white matter 5
  • leukoencephalopathy without lacunae, adult-onset
  • leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  • leukoencephalopathy, diffuse hereditary, with spheroids 1
  • leukoencephalopathy, hereditary diffuse, with spheroids 2
  • leukoencephalopathy, porphyria-related
  • leukoencephalopathy, progressive, with ovarian failure
  • megalencephalic leukoencephalopathy with subcortical cysts
  • megalencephalic leukoencephalopathy with subcortical cysts 1
  • megalencephalic leukoencephalopathy with subcortical cysts 2A
  • megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
  • metachromatic leukodystrophy
  • metachromatic leukodystrophy due to saposin B deficiency
  • metachromatic leukodystrophy, adult form
  • metachromatic leukodystrophy, juvenile form
  • metachromatic leukodystrophy, late infantile form
  • mild Canavan disease
  • multiple mitochondrial dysfunctions syndrome 4
  • neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
  • non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
  • non-Zellweger spectrum disorder
  • null syndrome
  • odontoleukodystrophy
  • Pelizaeus-Merzbacher disease in female carriers
  • Pelizaeus-Merzbacher disease, classic form
  • Pelizaeus-Merzbacher disease, connatal form
  • Pelizaeus-Merzbacher disease, transitional form
  • Pelizaeus-Merzbacher spectrum disorder
  • Pelizaeus-Merzbacher-like disease
  • peroxisome biogenesis disorder
  • peroxisome biogenesis disorder 10A (Zellweger)
  • peroxisome biogenesis disorder 10B
  • peroxisome biogenesis disorder 11A (Zellweger)
  • peroxisome biogenesis disorder 11B
  • peroxisome biogenesis disorder 12A (Zellweger)
  • peroxisome biogenesis disorder 13A (Zellweger)
  • peroxisome biogenesis disorder 14B
  • peroxisome biogenesis disorder 1A (Zellweger)
  • peroxisome biogenesis disorder 1B
  • peroxisome biogenesis disorder 2A (Zellweger)
  • peroxisome biogenesis disorder 2B
  • peroxisome biogenesis disorder 3A (Zellweger)
  • peroxisome biogenesis disorder 4A (Zellweger)
  • peroxisome biogenesis disorder 4B
  • peroxisome biogenesis disorder 5A (Zellweger)
  • peroxisome biogenesis disorder 5B
  • peroxisome biogenesis disorder 6A (Zellweger)
  • peroxisome biogenesis disorder 6B
  • peroxisome biogenesis disorder 7A (Zellweger)
  • peroxisome biogenesis disorder 7B
  • peroxisome biogenesis disorder 8A (Zellweger)
  • peroxisome biogenesis disorder 8B
  • peroxisome biogenesis disorder 9B
  • peroxisome biogenesis disorder due to PEX1 defect
  • peroxisome biogenesis disorder due to PEX10 defect
  • peroxisome biogenesis disorder due to PEX11B defect
  • peroxisome biogenesis disorder due to PEX12 defect
  • peroxisome biogenesis disorder due to PEX13 defect
  • peroxisome biogenesis disorder due to PEX14 defect
  • peroxisome biogenesis disorder due to PEX16 defect
  • peroxisome biogenesis disorder due to PEX19 defect
  • peroxisome biogenesis disorder due to PEX2 defect
  • peroxisome biogenesis disorder due to PEX26 defect
  • peroxisome biogenesis disorder due to PEX3 defect
  • peroxisome biogenesis disorder due to PEX5 defect
  • peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
  • peroxisome biogenesis disorder due to PEX6 defect
  • peroxisome biogenesis disorder due to PEX7 defect
  • peroxisome biogenesis disorder type 3B
  • peroxisome biogenesis disorder, complementation group 2
  • peroxisome biogenesis disorder, complementation group 3
  • peroxisome biogenesis disorder, complementation group K
  • POLR-related leukodystrophy
  • POLR3-related leukodystrophy
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
  • progressive cavitating leukoencephalopathy
  • progressive encephalopathy with leukodystrophy due to DECR deficiency
  • ravine syndrome
  • rhizomelic chondrodysplasia punctata type 1
  • rhizomelic chondrodysplasia punctata type 5
  • ribose-5-P isomerase deficiency
  • severe Canavan disease
  • Sjogren-Larsson syndrome
  • spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
  • sterol carrier protein 2 deficiency
  • tremor-ataxia-central hypomyelination syndrome
  • TREX1-related autosomal dominant Aicardi-Goutieres syndrome
  • trichothiodystrophy 8, nonphotosensitive
  • unknown leukodystrophy
  • X-linked cerebral adrenoleukodystrophy
  • Zellweger spectrum disorders
MONDO:0019046Orphanet 68356MedGen 6070

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