Leukodystrophy malady

MedlinePlus: The leukodystrophies are rare diseases that affect the cells of the brain. specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. damage to this sheath slows down or blocks messages between the brain and the rest of the body. this leads to problems with movement speaking vision hearing mental and physical development most of the leukodystrophies are genetic. they usually appear during infancy or childhood. they can be hard to detect early because children seem healthy at first. however, symptoms gradually get worse over time. there are no cures for any of the leukodystrophies. medicines, speech therapy and physical therapy might help with symptoms. researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies. nih: national institute of neurological disorders and stroke²³

MalaCards: Leukodystrophy, also known as leukodystrophies, is related to metachromatic leukodystrophy and krabbe disease. An important gene associated with Leukodystrophy is GALC (galactosylceramidase), and among its related pathways are Recycling of eIF2:GDP and Sphingolipid metabolism. The compounds formylglycine and mucopolysaccharide have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, brain and skin, and related mouse phenotypes are skeleton and hearing/vestibular/ear.

Disease Ontology: A cerebral degeneration characterized by dysfunction of the white matter of the brain.⁶

NIH Rare Diseases: Leukodystrophy refers to the progressive degeneration of the white matter of the brain due to abnormalities of myelin, the fatty covering that insulates nerves. The leukodystrophies are a group of disorders caused by mutations in the genes involved in the production of myelin. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, X-linked adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a leukodystrophy is a gradual decline in functioning of an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. ³⁰

NINDS: Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabb³¹

Wikipedia: Leukodystrophy refers to a group of disorders characterized by dysfunction of the white matter of the...⁴⁴ more...

Aliases & Descriptions:

leukodystrophy 6 7 30 31 8 32 43 leukodystrophies 44 23 leucodystrophy nos (disorder) 6

leukodystrophy (disorder) 6 leucodystrophy (disorder) 6

Diseases related to leukodystrophy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 196)

id	Related Disease	Score	Top Affiliating Genes
1	metachromatic leukodystrophy	38.1	ARSH, ARSA, ARSB, GLA, SUMF1, HEXA
2	krabbe disease	34.1	ARSA, MBP, GLB1, HEXA, PSAP, GALC
3	alexander disease	32.9	CRYAB, NDUFV1, GFAP
4	pelizaeus-merzbacher disease	31.3	MPZ, MBP, GPM6B, GJC2, AIMP1, PLP1
5	leukoencephalopathy with vanishing white matter	30.8	EIF2B2, EIF2B3, EIF2B1, EIF2B4, EIF2B5
6	aicardi-goutieres syndrome	28.7	SDHB, MT-ND5, MBP, SURF1, NDUFS4, EIF2B5
7	adrenoleukodystrophy	28.6	MPZ, MBP, TNF, PLP1, ABCD1, ACOX1
8	sphingolipidosis	28.1	ARSA, PSAP, ADPRH, GALC
9	ovarioleukodystrophy	28.1	EIF2B2, EIF2B3, EIF2B1, EIF2B4, EIF2B5
10	tremor	27.6	MPZ, ASPA, ARSA, PLP1, GFAP, POLR3A
11	gaucher's disease	27.2	ARSH, ARSA, IDUA, GLA, TNF, HEXA
12	peripheral neuropathy	26.1	MPV17, MPZ, CD40LG, ARSA, MAG, GJA3
13	nervous system disease	26.1	MPZ, CD40LG, ARSA, MBP, MAG, TNF
14	neurologic diseases	25.0	MT-ND5, MPZ, ASPA, ARSA, MBP, TNF
15	spasticity	24.5	SDHA, MT-ND6, MPZ, FOLR1, MLC1, ARSA
16	retinitis	23.2	SDHB, MT-ND5, MT-ND6, CD79A, CD40LG, FOLR1
17	ataxia	22.5	MT-ND3, MPZ, CD79A, FOLR1, MLC1, ARSA
18	neuronitis	22.0	NCAM1, LMNB1, SDHB, UGT8, MPZ, CD79A
19	cerebritis	21.9	NCAM1, LMNB1, SDHB, MT-ND5, MT-ND6, MPV17
20	neuropathy	18.8	NCAM1, LMNB1, SDHA, MT-ND5, MT-ND3, MT-ND6
21	mucopolysaccharidosis vi	13.9	ARSH, ARSA, ARSB
22	mucosulfatidosis	13.9	ARSH, ARSA, ARSB, SUMF1, STS
23	tay-sachs disease	13.9	ARSA, GLA, HEXA, PSAP
24	hereditary spastic paraplegia	13.8	FA2H, HSPD1, GJC2, PLP1, GALC
25	pelizaeus-merzbacher-like disease	13.8	GJC2, AIMP1, PLP1
26	ichthyosis	13.7	ARSH, ARSE, ARSA, ARSB, SUMF1, STS
27	fucosidosis	13.7	MAL, GLA, HEXA
28	corneal clouding	13.7	ARSB, IDUA, GLB1, GALNS
29	gangliosidosis gm1	13.7	ARSA, GLA, GLB1, HEXA, PSAP, GALNS
30	oligodendroglioma	13.7	OLIG1, OLIG2, GFAP
31	mucopolysaccharidosis iv	13.7	ARSH, GLB1, GALNS
32	gangliosidosis	13.6	ARSH, ARSA, GLA, GLB1, HEXA, PSAP
33	mucolipidosis ii	13.6	ARSH, PSAP, ADPRH
34	mucolipidosis	13.6	ARSH, ARSA, GLB1, SUMF1, HEXA, ADPRH
35	chondrodysplasia punctata	13.6	ARSD, ARSH, ARSE, ARSA, ARSB, SUMF1
36	hereditary neuropathies	13.5	MPZ, MAG, PLP1
37	chondrodysplasia	13.5	ARSD, ARSH, ARSE, ARSA, ARSB, SUMF1
38	premature ejaculation	13.5	HTR1A, SLC6A3, SLC6A4
39	albinism	13.5	ARSH, ARSE, PLP1, GFAP, STS, SLC6A4
40	mayer-rokitansky-kuster-hauser syndrome	13.5	MPZ, ASPA, ARSH, GLA, PLP1, HEXA
41	hydrocephalus	13.5	ARSH, ARSA, ARSB, MBP, SUMF1, GFAP
42	was-related disorders	13.5	MPZ, FA2H, IDUA, PLP1, EIF2B2, EIF2B3
43	mucopolysaccharidosis	13.5	ARSD, ARSH, ARSA, ARSB, IDUA, GLA
44	spastic ataxia	13.4	GJC2, GFAP, POLR3A
45	mucopolysaccharidosis i	13.4	ARSH, IDUA
46	spastic paraplegia	13.4	MPZ, FOLR1, FA2H, GPM6B, HSPD1, GJC2
47	cocaine abuse	13.4	MBP, PLP1, SLC6A3, SLC6A4
48	lysosomal storage disease	13.4	ARSH, ARSA, ARSB, IDUA, GLA, GLB1
49	ppm-x syndrome	13.4	ARSA, HTR1A, SOD2, SLC6A3, SLC6A4
50	central nervous system disease	13.4	MBP, IDUA, CRYAB, PLP1, GFAP, SLC6A3

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to leukodystrophy:

²²

MGI Mouse Phenotypes related to leukodystrophy:

²⁵ (show all 15)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	skeleton phenotype	MP:0005390	9.9	NDUFS4, HEXA, TYMP, PSAP, GALC, CRYAB
2	hearing/vestibular/ear phenotype	MP:0005377	9.4	PSAP, HEXA, CTSL1, IDUA, MBP, ARSB
3	hematopoietic system phenotype	MP:0005397	9.1	SOD2, CTSL1, CTC1, SUMF1, TREX1, GJC2
4	renal/urinary system phenotype	MP:0005367	9.0	CTSL1, HEXA, PSAP, SOD2, GALC, GALNS
5	muscle phenotype	MP:0005369	8.8	NDUFS4, GFAP, PSAP, SOD2, SLC6A3, SLC6A4
6	liver/biliary system phenotype	MP:0005370	8.6	CTSL1, ACOX1, HEXA, PSAP, SOD2, GALC
7	nervous system phenotype	MP:0003631	8.0	LMNB1, GLB1, HTR1A, IDUA, MAL, MAG
8	vision/eye phenotype	MP:0005391	7.8	CTSL1, CRYAB, PLP1, NDUFS4, HEXA, GFAP
9	reproductive system phenotype	MP:0005389	7.6	PLP1, ABCD1, EIF2S2, ACOX1, HEXA, PSAP
10	growth/size phenotype	MP:0005378	7.1	GFAP, HEXA, ACOX1, NDUFS4, PLP1, CRYAB
11	behavior/neurological phenotype	MP:0005386	6.9	GAL3ST1, SUMF1, TNF, GJC2, GLB1, GLA
12	immune system phenotype	MP:0005387	6.7	CTSL1, CRYAB, PLP1, NDUFS4, ABCD1, ACOX1
13	mortality/aging	MP:0010768	5.9	EIF2S2, NDUFS4, PLP1, CRYAB, CTSL1, CTC1
14	homeostasis/metabolism phenotype	MP:0005376	5.9	ACOX1, EIF2B5, ABCD1, NDUFS4, PLP1, CTSL1
15	cellular phenotype	MP:0005384	5.6	GFAP, EIF2S2, NDUFS4, PLP1, CTSL1, CTC1

Articles related to leukodystrophy:

(show top 50)    (show all 198)

id	Title	Authors	Year	Affiliating Genes
1	Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a pr eviously reported case. (21265945)	Hayashi T.... Sano A.	2011	ARSA
2	Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. (21855841)	Bernard G.... Brais B.	2011	POLR3A
3	Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function an d disease. (20816241)	Padiath Q.S.... Fu Y.H.	2010	LMNB1
4	Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy. (19054018)	Bisgaard A.M.... Christensen E.	2009	ARSA
5	Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy. (19174759)	Matzner U.... Gieselmann V.	2009	ARSA
6	Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. (18571143)	Magen D.... Mandel H.	2008	HSPD1, PLP1, GJC2
7	A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy. (17204333)	Saravanan K.... Franken S.	2007	ARSA
8	C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. (17660820)	Richards A.... Atkinson J.P.	2007	TREX1
9	Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. (16441258)	Vaurs-Barriere C.... Boespflug-Tanguy O.	2006	MBP, PLP1, GJC2
10	Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. (16678723)	Bertelli M.... Pandolfo M.	2006	ARSA
11	Galactosylceramidase deficiency causes sperm abnormalities in the mouse model of globoid cell leukodystrophy. (15707574)	Luddi A.... Costantino-Ceccarini E.	2005	GALC
12	Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. (16140556)	Lugowska A.... Czartoryska B.	2005	ARSA
13	Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. (15710861)	Marcao A.M.... Gieselmann V.	2005	ARSA
14	An arylsulphatase A (ARSA) frameshift mutation (289in sG) in metachromatic leukodystrophy (MLD). (19565006)	Perkins K.J.... Morris C.P.	2005	ARSA
15	Alexander disease: a leukodystrophy caused by a mutation in GFAP. (15139294)	Johnson A.B.	2004	GFAP
16	The effect of genotype on the natural history of eIF2B-related leukodystrophies. (15136673)	Fogli A.... Boespflug-Tanguy O.	2004	EIF2B5
17	Infantile metachromatic leukodystrophy (MLD) in a com pound heterozygote for the c.459 + 1G > A mutation and a complete deletion o f the ARSA gene. (15211666)	Eng B.... Waye J.S.	2004	ARSA
18	Globoid cell leukodystrophy (Krabbe's disease): update. (14572137)	Suzuki K.	2003	GALC, PSAP
19	High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy. (12081727)	Lugowska A.... Molzer B.	2002	ARSA
20	Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy (12442547)	Horovenko N.H.... Pichkur N.O.	2002	ARSA
21	Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations. (11850723)	Matzner U.... Gieselmann V.	2002	ARSA
22	Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP. (12696672)	Nielsen A.L.... rgensen A.L.	2002	GFAP
23	A SURF1 gene mutation presenting as isolated leukodystrophy. (11409433)	Rahman S.... Brown G.K.	2001	SURF1
24	Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor. (11726558)	Matsuda J.... Suzuki K.	2001	GALC
25	Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). (11461188)	Luzi P.... Wenger D.A.	2001	GALC
26	Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. (10751093)	Hermann S.... Gieselmann V.	2000	ARSA
27	Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy). (10713632)	DeGasperi R.... Krivit W.	2000	ARSA, GALC, ARSB
28	Molecular basis of late-life globoid cell leukodystrophy. (10477434)	De Gasperi R.... Kolodny E.H.	1999	GALC
29	Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. (10477432)	Gort L.... Chabas A.	1999	ARSA
30	An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. (10196694)	Regis S.... Gatti R.	1999	PSAP
31	Metachromatic leukodystrophy: molecular genetics and an animal model. (9728336)	Gieselmann V.... Nagels G.	1998	ARSA
32	Transduced fibroblasts and metachromatic leukodystrophy lymphocytes transfer arylsulfatase A to myelinating glia and deficient cells in vitro. (9759937)	Sangalli A.... Severini G.M.	1998	ARSA
33	Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy. (9452102)	Coulter-Mackie M.B.... Gagnier L.	1998	ARSA
34	A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms. (9490297)	Regis S.... Gatti R.	1998	ARSA
35	Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta). (10090061)	Baskin G.B.... Wenger D.A.	1998	GALC
36	Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene. (9090526)	Draghia R.... Caillaud C.	1997	ARSA
37	Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy. (9096767)	Berger J.... Molzer B.	1997	ARSA
38	Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. (9192853)	Luzi P.... Wenger D.A.	1997	GALC
39	Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele. (9007312)	Tylki-Szymanska A.... Molzer B.	1996	ARSA
40	Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy. (8554069)	Henseler M.... Sandhoff K.	1996	ARSA, PSAP
41	A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy. (8982952)	Lissens W.... Liebaers I.	1996	ARSA
42	Discrimination between metachromatic leukodystrophy and pseudo-deficiency of arylsulfatase A by restriction digest of amplified gene fragments. (7847447)	Ben-Yoseph Y.... Mitchell D.A.	1995	ARSA
43	Krabbe disease (globoid cell leukodystrophy) (8577041)	Sakai N.... Okada S.	1995	GALC
44	Rapid detection of common mutation of arylsulfatase A in metachromatic leukodystrophy by polymerase chain reaction with a mismatched primer. (7908679)	Ohshima T.... Sakuragawa N.	1994	ARSA
45	An arylsulfatase A (ARSA) missense mutation (T274M) causing late- infantile metachromatic leukodystrophy. (8104633)	Harvey J.S.... Morris C.P.	1993	ARSA
46	The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications. (1362438)	Powers J.M.... Moser H.W.	1992	CD40LG, CD79A
47	Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. (1817026)	Kolodny E.H.... Krivit W.	1991	GALC
48	Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy. (1673291)	Kondo R.... Tsuji S.	1991	ARSA
49	Molecular genetics of metachromatic leukodystrophy. (1687778)	Gieselmann V.... von Figura K.	1991	ARSA
50	Molecular basis of different forms of metachromatic leukodystrophy. (1670590)	Polten A.... Gieselmann V.	1991	ARSA

Genes related to leukodystrophy according to GeneCards:

(show top 50)    (show all 89)

id	Symbol	Description	Score	GeneCards Section Context
1	GALC	galactosylceramidase	11.1	Summaries, Publications
2	PSAP	prosaposin	11.1	Publications, Summaries
3	FA2H	fatty acid 2-hydroxylase	11.1	Publications, Summaries
4	LMNB1	lamin B1	11.1	Summaries, Publications
5	EIF2B3	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	11.0	Summaries
6	POLR3B	polymerase (RNA) III (DNA directed) polypeptide B	11.0	Summaries, Publications
7	ARSA	arylsulfatase A	11.0	Publications, Orthologs
8	ARSH	arylsulfatase family, member H	11.0	Publications
9	TREX1	three prime repair exonuclease 1	11.0	Publications
10	SUMF1	sulfatase modifying factor 1	11.0	Publications
11	HEXA	hexosaminidase A (alpha polypeptide)	11.0
12	ARSB	arylsulfatase B	11.0	Publications
13	STS	steroid sulfatase (microsomal), isozyme S	11.0
14	HSPD1	heat shock 60kDa protein 1 (chaperonin)	11.0	Publications
15	GJC2	gap junction protein, gamma 2, 47kDa	11.0	Publications
16	EIF2B5	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	11.0	Publications
17	GAL3ST1	galactose-3-O-sulfotransferase 1	11.0	Publications
18	EIF2B2	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	11.0
19	MAL	mal, T-cell differentiation protein	11.0	Publications
20	ASPA	aspartoacylase	11.0	Publications
21	MAP9	microtubule-associated protein 9	11.0
22	MLC1	megalencephalic leukoencephalopathy with subcortical cysts 1	11.0	Publications
23	SOX10	SRY (sex determining region Y)-box 10	11.0
24	SURF1	surfeit 1	11.0	Publications
25	IDUA	iduronidase, alpha-L-	11.0	Publications
26	UGT8	UDP glycosyltransferase 8	11.0	Publications
27	PLP1	proteolipid protein 1	11.0	Publications
28	FAM126A	family with sequence similarity 126, member A	11.0
29	GALNS	galactosamine (N-acetyl)-6-sulfate sulfatase	11.0	Orthologs
30	ARSG	arylsulfatase G	11.0	Orthologs
31	CTSL1	cathepsin L1	11.0	Publications
32	CRYAB	crystallin, alpha B	11.0
33	GFAP	glial fibrillary acidic protein	11.0	Publications
34	GLA	galactosidase, alpha	11.0
35	TYMP	thymidine phosphorylase	11.0
36	HTR1A	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	11.0	Publications
37	SLC6A4	solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	11.0	Publications
38	SLC6A3	solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	11.0	Publications
39	OLIG1	oligodendrocyte transcription factor 1	11.0	Publications
40	NDUFAF4	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	11.0
41	OLIG2	oligodendrocyte lineage transcription factor 2	11.0	Publications
42	NDUFA11	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	11.0
43	NDUFA1	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	11.0
44	HRSP12	heat-responsive protein 12	11.0	Publications
45	EIF2B1	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	11.0
46	FOXRED1	FAD-dependent oxidoreductase domain containing 1	11.0
47	NDUFS7	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	11.0
48	NDUFAF3	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	11.0
49	MPV17	MpV17 mitochondrial inner membrane protein	11.0	Publications
50	HEPACAM	hepatic and glial cell adhesion molecule	11.0

Pathways related to leukodystrophy according to GeneDecks:

(show all 18)

id	Pathway	Score	Top Affiliating Genes
1	Recycling of eIF2:GDP38	10.5	EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
2	Sphingolipid metabolism20	10.3	GAL3ST1, GALC, GLB1, GLA, ARSA, UGT8
3	Glycosaminoglycan degradation20	10.3	GALNS, HEXA, GLB1, IDUA, ARSB
4	Lysosome20	10.2	CTSL1, HEXA, PSAP, GALC, GALNS, SUMF1
5	Translation_Insulin regulation of translation41	10.1	EIF2S2, EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
6	CS/DS degradation38	10.1	HEXA, IDUA, ARSB
7	Translation Insulin regulation of translation10	10.1	EIF2S2, EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
8	Translation _Regulation of EIF2 activity41	10.0	EIF2B3, EIF2B1, EIF2B4, EIF2B5, EIF2S2, EIF2B2
9	RNA transport20	10.0	EIF2B2, EIF2B3, EIF2B1, EIF2B4, EIF2B5, EIF2S2
10	Metabolism of lipids and lipoproteins38	9.9	GAL3ST1, GALC, PSAP, STS, ACOX1, ABCD1
11	Metformin Pathway, Pharmacodynamic34	9.9	NDUFV1, NDUFS4, NDUFS2, NDUFS1, NDUFA11, NDUFA1
12	Translation Regulation activity of EIF210	9.9	EIF2S2, EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
13	Huntingtons disease20	9.2	NDUFS4, NDUFS7, NDUFV1, SOD2, NDUFS2, NDUFS1
14	Alzheimers disease20	9.0	NDUFV1, NDUFS7, NDUFS4, NDUFS2, NDUFS1, NDUFA11
15	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.38	8.6	NDUFS2, NDUFS4, NDUFS7, NDUFV1, NDUFS1, NDUFA11
16	Oxidative phosphorylation20	8.3	NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFV1, NDUFA11
17	Parkinsons disease20	8.2	SDHA, SLC6A3, NDUFV1, NDUFS7, NDUFS4, NDUFS2
18	Metabolic pathways20	7.3	NDUFS4, NDUFS7, NDUFV1, ACOX1, HEXA, TYMP

Compounds related to leukodystrophy according to GeneDecks:

(show top 50)    (show all 84)

id	Compound	Score	Top Affiliating Genes
1	formylglycine32	10.8	SUMF1, ARSB, ARSA, ARSH
2	mucopolysaccharide32	10.8	STS, IDUA, ARSB, ARSA, ARSH
3	n-acetylgalactosamine 6-sulfate32	10.7	GALNS, ARSA, ARSH
4	psychosine32	10.7	GAL3ST1, GALC, PSAP
5	glycosphingolipid32	10.6	PSAP, GFAP, GLA, ARSA, UGT8
6	lactosylceramide32	10.6	UGT8, GLA, PSAP, GAL3ST1
7	mannose 6-phosphate32 18	11.5	GALC, ADPRH, PSAP, HEXA, CTSL1, GLA
8	galactosylceramide32	10.5	GAL3ST1, GALC, PSAP, MBP, ARSA
9	glycolipid32	10.4	GAL3ST1, GALC, PSAP, HEXA, GLA, MAG
10	cerebroside32	10.3	ARSH, ARSA, ARSB, MBP, GLA, HEXA
11	p-chloroamphetamine32	10.3	SLC6A4, SLC6A3, HTR1A
12	carbon-1132	10.2	SLC6A4, SLC6A3, HTR1A
13	sulfate32 18	11.2	GALNS, PSAP, STS, IDUA, MAG, ARSB
14	mannose32	10.2	ADPRH, HEXA, CTSL1, GLA, HSPD1, IDUA
15	glucuronic acid32	10.1	GALNS, ADPRH, HEXA, MAG, ARSH, NCAM1
16	clomipramine32 34 9 9	13.1	SLC6A4, SLC6A3, HTR1A, MPZ
17	2,3-cyclic nucleotide32	10.1	GFAP, PLP1, MAG, MBP, MPZ
18	gm1 ganglioside32	10.1	PSAP, MBP, CD79A
19	chondroitin sulfate32 18	11.0	GALNS, GFAP, CTSL1, GLB1, MAG, ARSB
20	thenoyltrifluoroacetone32 9 9	12.0	SOD2, NDUFS4, SDHB, SDHA
21	sulfatide32	9.8	UGT8, GAL3ST1, PSAP, MPZ, ARSH, ARSA
22	biotin32 9 18 9	12.7	ADPRH, SLC6A4, SLC6A3, HSPD1, CD40LG, CD79A
23	cocaine32 9 9	11.7	ADPRH, SLC6A4, SLC6A3, GFAP, PLP1, MBP
24	manganese superoxide32	9.6	SOD2, ABCD1, NDUFS4, CRYAB, TNF, HSPD1
25	polyethylene glycol32	9.5	ADPRH, GFAP, HSPD1, MBP, FOLR1, CD40LG
26	nmda32 42	10.5	ADPRH, SLC6A4, SLC6A3, GFAP, HSPD1, HTR1A
27	pyruvate32	9.4	SOD2, STS, ACOX1, NDUFS4, CRYAB, SURF1
28	rotenone32	9.3	SLC6A3, SOD2, NDUFS4, MT-ND6, SDHB
29	polysaccharide32	9.3	CTSL1, ST8SIA4, ST8SIA2, ADPRH, GALNS, HSPD1
30	valine32	9.3	ADPRH, SLC6A4, SLC6A3, SOD2, PSAP, GLA
31	galactose32	9.2	ST8SIA4, GLA, MAG, CD79A, NCAM1, GAL3ST1
32	ganglioside32	9.2	GLA, GLB1, HEXA, GFAP, PSAP, IDUA
33	methionine32	9.2	GFAP, EIF2S2, PLP1, CRYAB, GLA, ARSA
34	acetylcholine32 9 18 9	11.9	PLP1, GFAP, SOD2, SLC6A3, HTR1A, MAG
35	dopamine32 9 18 9	11.9	SLC6A4, SLC6A3, SOD2, GFAP, NDUFS4, HTR1A
36	glutamate32	8.9	GLA, CTSL1, PLP1, NDUFS4, GFAP, MBP
37	aspartate32	8.8	CRYAB, GFAP, SOD2, SLC6A3, SLC6A4, ADPRH
38	iron32 18	9.8	NDUFS2, NDUFS4, NDUFS7, NDUFV1, GFAP, SOD2
39	norepinephrine32 9 18 9	11.7	SLC6A4, SLC6A3, SOD2, NDUFS4, HTR1A, MBP
40	creatinine32	8.6	GLA, CTSL1, GFAP, TYMP, SOD2, SLC6A3
41	cyclosporin a32 42	9.6	GALNS, SOD2, CTSL1, TNF, HSPD1, IDUA
42	arginine32	8.6	GFAP, PSAP, SOD2, SLC6A3, SLC6A4, ADPRH
43	oxygen32 18	9.3	NDUFS4, ACOX1, GFAP, TYMP, STS, SOD2
44	h2o232	8.3	ACOX1, SOD2, SLC6A3, SLC6A4, ADPRH, NDUFS4
45	lactate32	8.2	TNF, SURF1, ACOX1, GFAP, SOD2, ADPRH
46	cysteine32	8.0	PLP1, NDUFS4, GFAP, TYMP, STS, PSAP
47	alanine32	7.9	HSPD1, CTSL1, EIF2S2, GFAP, SLC6A4, ADPRH
48	lipid32	7.8	GJA3, TNF, PLP1, NDUFS4, ABCD1, ACOX1
49	nadh32 9 18 9	10.7	NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFV1, SOD2
50	serine32	6.7	NDUFS4, EIF2S2, HEXA, GFAP, TYMP, STS

Cellular components related to leukodystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	eukaryotic translation initiation factor 2B complex	GO:005851	10.4	EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
2	lysosomal lumen	GO:043202	10.1	ARSA, GALNS, GALC, PSAP, HEXA, CTSL1
3	lysosome	GO:005764	10.0	GALC, STS, CTSL1, GLA, ARSB, ARSA
4	endoplasmic reticulum lumen	GO:005788	9.8	STS, SUMF1, ARSB, ARSA, ARSE, ARSG
5	mitochondrial respiratory chain complex I	GO:005747	9.7	NDUFV1, NDUFS7, NDUFS4, NDUFS2, NDUFS1, NDUFA11
6	membrane raft	GO:045121	9.3	TNF, GJA3, GPM6B, MAL, MLC1, CD79A
7	mitochondrial inner membrane	GO:005743	8.3	NDUFV1, NDUFS7, NDUFS4, NDUFS2, NDUFS1, NDUFAF6
8	mitochondrion	GO:005739	8.2	NDUFAF4, NDUFS2, NDUFS4, ACOX1, PSAP, NUBPL

Biological processes related to leukodystrophy according to GeneDecks:

(show all 24)

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of translational initiation in response to stress	GO:032057	10.5	EIF2B5, EIF2B4, EIF2B1, EIF2B3
2	cellular response to stimulus	GO:051716	10.5	EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
3	oligodendrocyte development	GO:014003	10.5	EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
4	response to peptide hormone stimulus	GO:043434	10.4	STS, EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
5	response to heat	GO:009408	10.4	EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
6	galactosylceramide biosynthetic process	GO:006682	10.4	UGT8, GAL3ST1
7	response to glucose stimulus	GO:009749	10.4	EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
8	cell death	GO:008219	10.3	SLC6A3, HEXA, PLP1, TREX1, GJC2, FA2H
9	response to pH	GO:009268	10.2	STS, GJA3, ARSB
10	oligosaccharide metabolic process	GO:009311	10.2	MAN1B1, GLA, ST8SIA4, ST8SIA2
11	keratan sulfate catabolic process	GO:042340	10.2	GALNS, HEXA, GLB1
12	myelination	GO:042552	10.1	GAL3ST1, HEXA, EIF2B5, EIF2B4, EIF2B2, OLIG2
13	translational initiation	GO:006413	10.1	EIF2S2, EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
14	chondroitin sulfate catabolic process	GO:030207	10.1	ARSB, IDUA, HEXA
15	glycosphingolipid metabolic process	GO:006687	10.1	GAL3ST1, ARSH, ARSG, ARSE, ARSA, ARSB
16	post-translational protein modification	GO:043687	10.1	STS, ST8SIA2, SUMF1, MAN1B1, ARSB, ARSA
17	phospholipid metabolic process	GO:006644	10.1	SUMF1, HEXA, STS, PSAP, GALC, GAL3ST1
18	sphingolipid metabolic process	GO:006665	10.1	GAL3ST1, GALC, ARSD, ARSH, ARSG, ARSE
19	B cell proliferation	GO:042100	10.0	CD79A, CD40LG, HSPD1
20	mitochondrial electron transport, NADH to ubiquinone	GO:006120	10.0	NDUFV1, NDUFS7, NDUFS4, NDUFS2, NDUFS1, NDUFA1
21	cellular protein metabolic process	GO:044267	9.6	EIF2B3, EIF2B1, EIF2B4, EIF2B5, EIF2S2, ST8SIA2
22	respiratory electron transport chain	GO:022904	9.6	NDUFV1, NDUFS7, NDUFS4, NDUFS2, NDUFS1, NDUFA11
23	mitochondrial respiratory chain complex I assembly	GO:032981	8.8	NUBPL, NDUFS7, NDUFS4, NDUFAF6, NDUFAF5, NDUFAF4
24	small molecule metabolic process	GO:044281	8.4	ABCD1, NDUFV1, NDUFS7, NDUFS4, NDUFS2, ACOX1

Molecular functions related to leukodystrophy according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	sulfuric ester hydrolase activity	GO:008484	10.4	GALNS, STS, ARSA
2	arylsulfatase activity	GO:004065	10.4	ARSD, ARSH, ARSG, ARSE, ARSA, ARSB
3	cation binding	GO:043169	10.2	GALC, HEXA, GLB1, GLA, IDUA
4	translation initiation factor activity	GO:003743	10.2	EIF2S2, EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
5	succinate dehydrogenase (ubiquinone) activity	GO:008177	10.1	SDHA, SDHB
6	structural constituent of myelin sheath	GO:019911	10.1	PLP1, MAL, MBP
7	guanyl-nucleotide exchange factor activity	GO:005085	10.1	EIF2B5, EIF2B4, EIF2B1, EIF2B3, EIF2B2
8	N-acetylgalactosamine-4-sulfatase activity	GO:003943	10.1	ARSB, GALNS
9	4 iron, 4 sulfur cluster binding	GO:051539	9.7	NUBPL, NDUFV1, NDUFS7, NDUFS2, NDUFS1, SDHB
10	NADH dehydrogenase (ubiquinone) activity	GO:008137	9.7	NDUFV1, NDUFS7, NDUFS4, NDUFS2, NDUFS1, NDUFAF2
11	metal ion binding	GO:046872	9.0	NDUFS2, NDUFS7, NDUFV1, EIF2S2, STS, NUBPL