Leukodystrophy

Symptom Information:

Symptom ID: HPO:0002415
Synonyms:
Leukodystrophy [OMIM:Leukodystrophy]
Leukodystrophy (in 1 of 2 patients) [OMIM:Leukodystrophy (in 1 of 2 patients)]
Leukodystrophies [MedDRA:10068202]
Leukodystrophy [MedDRA:10024381]
Quality:
Cross references:
OMIM: "Leukodystrophy" [OMIM:Leukodystrophy]
OMIM: "Leukodystrophy (in 1 of 2 patients)" [OMIM:Leukodystrophy (in 1 of 2 patients)]
Is a (Direct Parents):
HPO         Abnormal CNS myelination
MedDRA Lysosomal storage disorders
MedDRA Demyelinating disorders
Is a (Whole tree): HPO:
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Demyelinating disorders(MedDRA:10012303)
       Leukodystrophy(HPO:0002415)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Lysosomal storage disorders(MedDRA:10024579)
          Leukodystrophy(HPO:0002415)
Database Frequency: 30 / 7739
Resource:

All diseases associated with this symptom:

2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Adult-onset autosomal dominant leukodystrophy (Orphanet:99027)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Coats plus syndrome (Orphanet:313838)
DERMATOLEUKODYSTROPHY (OMIM:221790)
Gamma-aminobutyric acid transaminase deficiency (Orphanet:2066)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hypomyelination - congenital cataract (Orphanet:85163)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/ORHYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Leigh syndrome with leukodystrophy (Orphanet:255241)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Odontoleukodystrophy (Orphanet:77295)
PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Pelizaeus-Merzbacher-like disease (Orphanet:280270)
Pelizaeus-Merzbacher-like due to GJC2 mutation (Orphanet:280282)
Pelizaeus-Merzbacher-like due to HSPD1 mutation (Orphanet:280288)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Waardenburg-Shah syndrome (Orphanet:897)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)