Genes associated with “leukodystrophy”
How are genes scored? (0–100 composite)
Strong Candidates
58 genesproteolipid protein 1
Pelizeaus-Merzbacher spectrum disorder
arylsulfatase A
aminoacyl tRNA synthetase complex interacting multifunctional protein 1
hypomyelinating leukodystrophy 3
gap junction protein gamma 2
hypomyelinating leukodystrophy 2
delta 4-desaturase, sphingolipid 1
tubulin beta 4A class IVa
hypomyelinating leukodystrophy 6
ATP binding cassette subfamily D member 1
heat shock protein family D (Hsp60) member 1
hypomyelinating leukodystrophy 4
adenosine deaminase RNA specific
Aicardi-Goutieres syndrome 6
peroxisome biogenesis disorder 1B
peroxisome biogenesis disorder 8B
Wiedemann-Rautenstrauch syndrome
Aicardi-Goutieres syndrome 5
three prime repair exonuclease 1
peroxisome biogenesis disorder 6B
peroxisomal biogenesis factor 6
galactosylceramidase
aspartoacylase
peroxisomal biogenesis factor 12
peroxisomal biogenesis factor 5
leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical
hypomyelinating leukodystrophy 10
hypomyelinating leukodystrophy 13
peroxisomal biogenesis factor 26
hereditary spastic paraplegia 35
eukaryotic translation initiation factor 2B subunit delta
leukodystrophy, hypomyelinating, 16
glial fibrillary acidic protein
cytochrome P450 family 27 subfamily A member 1
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Aicardi-Goutieres syndrome 4
eukaryotic translation initiation factor 2B subunit alpha
peroxisomal biogenesis factor 3
alanyl-tRNA synthetase 2, mitochondrial
ribonuclease H2 subunit B
ribonuclease H2 subunit C
aspartyl-tRNA synthetase 2, mitochondrial
hypomyelinating leukodystrophy 11
interferon induced with helicase C domain 1
multiple mitochondrial dysfunctions syndrome 4
hypomyelinating leukodystrophy 5
Allan-Herndon-Dudley syndrome
peroxisomal biogenesis factor 2
peroxisomal biogenesis factor 13
eukaryotic translation initiation factor 2B subunit epsilon
hepatic and glial cell adhesion molecule
eukaryotic translation initiation factor 2B subunit beta
colony stimulating factor 1 receptor
peroxisomal biogenesis factor 7
peroxisomal biogenesis factor 19
peroxisomal biogenesis factor 14
eukaryotic translation initiation factor 2B subunit gamma
peroxisomal biogenesis factor 11 beta
leukodystrophy, hypomyelinating, 17
modulator of VRAC current 1
aldehyde dehydrogenase 3 family member A2
Consider
76 genesribonuclease T2
NK6 homeobox 2
cerebroretinal microangiopathy with calcifications and cysts 1
PCWH syndrome
peroxisomal acyl-CoA oxidase deficiency
gastrointestinal defects and immunodeficiency syndrome 2
alkaline ceramidase 3 deficiency
progressive encephalopathy with leukodystrophy due to DECR deficiency
leukodystrophy, hypomyelinating, 19, transient infantile
mitochondrial DNA depletion syndrome 13
mitochondrial complex I deficiency, nuclear type 4
mitochondrial complex I deficiency, nuclear type 21
mitochondrial complex I deficiency, nuclear type 5
mitochondrial complex I deficiency, nuclear type 1
Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical
LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10
LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11
LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12
LEUKODYSTROPHY, HYPOMYELINATING, 13; HLD13
LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3
LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8
LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA; LDAMD
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY; MLDSAPB
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES; NEDSPLB
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY; SEMDHL
mitochondrial complex 2 deficiency, nuclear type 4
Waardenburg syndrome type 4A
GABA aminotransaminase deficiency
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
multiple mitochondrial dysfunctions syndrome 2
multiple mitochondrial dysfunctions syndrome 3
developmental delay with or without intellectual impairment or behavioral abnormalities
mitochondrial complex IV deficiency, nuclear type 7
de Sanctis-Cacchione syndrome
leukodystrophy, childhood-onset, remitting
lipoic acid synthetase deficiency
multiple mitochondrial dysfunctions syndrome 5
leukodystrophy, hypomyelinating, 15
combined oxidative phosphorylation defect type 13
combined oxidative phosphorylation defect type 4
leukodystrophy, hypomyelinating, 27
leukodystrophy, hypomyelinating, 26, with chondrodysplasia
hypomyelinating leukodystrophy 9
leukodystrophy and acquired microcephaly with or without dystonia;
spasticity-ataxia-gait anomalies syndrome
developmental delay, impaired speech, and behavioral abnormalities
Possible
10 genes — click to expand
leukodystrophy, hypomyelinating, 24
mitochondrial complex IV deficiency, nuclear type 17
LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA; HLD26
LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6
LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.