Metachromatic Leukodystrophy malady

NIH Rare Diseases: Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.³⁰

MalaCards: Metachromatic Leukodystrophy, also known as arylsulfatase a deficiency, is related to leukodystrophy and mucosulfatidosis. An important gene associated with Metachromatic Leukodystrophy is PSAP (prosaposin), and among its related pathways are CS/DS degradation and Sphingolipid metabolism. The compounds p-nitrocatechol sulfate and psychosine 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.

NINDS: Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies. These diseases impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of a mixture of fats and proteins. ³¹

Genetics Home Reference: Metachromatic leukodystrophy is an inherited disorder characterized by accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter, which consists of nerve fibers covered by myelin. Myelin is a substance that insulates and protects nerves.¹⁷

Wikipedia: Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is a lysosomal storage...⁴⁴ more...

OMIM: 250100

GeneReviews summary for mld

Aliases & Descriptions:

metachromatic leukodystrophy 6 7 15 30 17 31 8 33 arylsulfatase a deficiency 15 30 16 43 arsa deficiency 15 30 16 17 leukodystrophy metachromatic 30 16 32 sulfatide lipidosis 6 30 17 mld 30 16 17 sulfatidosis 17 43 cerebral sclerosis, diffuse, metachromatic form 17 deficiency of cerebroside-sulfatase (disorder) 6 cerebral sclerosis diffuse metachromatic form 30 cerebroside sulphatase deficiency disease 17 metachromatic leucodystrophy (disorder) 6 metachromatic leukodystrophy (disorder) 6

arylsulfatase a deficiency (disorder) 6 metachromatic leukodystrophy, infant 43 arylsulfatase a deficiency disease 17 metachromatic leukoencephalopathy 30 cerebroside sulfatase deficiency 30 leukodystrophy, metachromatic 43 scholz cerebral sclerosis 6 sulfatide lipoidosis 6 tuberous sclerosis 43 greenfield disease 17 leukodystrophies 17 leukodystrophy 43 malnutrition 43

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

(show top 50)    (show all 490)

id	Related Disease	Score	Top Affiliating Genes
1	leukodystrophy	31.5	CTSL1, HEXA, STS, PSAP, SLC6A3, SLC6A4
2	mucosulfatidosis	30.7	STS, SUMF1, ARSB, ARSA, ARSH
3	sphingolipidosis	30.5	GALC, PSAP, ARSA
4	peripheral neuropathy	29.8	ARSA, HEXA, PSAP, GALC
5	gaucher's disease	29.4	GALC, PSAP, HEXA, IDUA, ARSA, ARSH
6	krabbe disease	29.3	GALC, PSAP, HEXA, GLB1, ARSA
7	seizures	28.9	SLC6A4, SLC6A3, PSAP, GLB1, HTR1A, ARSA
8	antisocial personality disorder	27.4	SLC6A4, SLC6A3
9	alcoholism	27.1	ARSA, HTR1A, SLC6A3, SLC6A4
10	mucopolysaccharidosis i	26.6	ARSH, IDUA
11	tay-sachs disease	26.3	PSAP, HEXA
12	ketothiolase deficiency	26.3	GALNS, ARSH
13	mucopolysaccharidosis vi	26.1	ARSH, ARSA, ARSB
14	mucopolysaccharidosis iv	25.8	GALNS, GLB1, ARSH
15	gangliosidosis gm1	25.1	GALNS, PSAP, HEXA, GLB1, ARSA
16	eating disorder	24.0	HTR1A, SLC6A3, SLC6A4
17	ataxia	23.7	SLC6A3, PSAP, HEXA, SUMF1, GLB1, HTR1A
18	neuronitis	23.7	SLC6A4, GALC, GALNS, GAL3ST1, SLC6A3, PSAP
19	cholesterol	21.6	GAL3ST1, GALC, SLC6A4, SLC6A3, PSAP, STS
20	tuberous sclerosis	14.4
21	gastric dilatation	13.5	ARSE, ARSD
22	lipid storage disease	13.4	GALC, PSAP
23	farber lipogranulomatosis	13.3	GALC, PSAP
24	mucolipidosis ii	13.3	PSAP, ARSH
25	sandhoff disease	13.3	HEXA, ARSA
26	hurler syndrome	13.2	GLB1, IDUA
27	beta-ketothiolase deficiency	13.2	GALNS, ARSH
28	sialidosis	13.2	PSAP, GLB1
29	endometriosis of ovary	13.2	STS, ARSH
30	x-linked ichthyosis	13.2	STS, ARSH
31	niemann–pick disease	13.2	UGT8, HEXA, PSAP
32	fucosidosis	13.0	HEXA, MAL
33	endogenous depression	12.7	SLC6A4, HTR1A
34	bipolar disorder	12.6	SLC6A4, HTR1A
35	neurotic disorder	12.6	SLC6A4, HTR1A
36	mucolipidosis	12.6	HEXA, SUMF1, GLB1, ARSA, ARSH
37	corneal clouding	12.6	GALNS, GLB1, IDUA, ARSB
38	alcoholic psychosis	12.6	SLC6A4, SLC6A3
39	craniofacial abnormalities	12.5	ARSB, IDUA
40	generalized anxiety disorder	12.5	SLC6A4, HTR1A
41	central pontine myelinolysis	12.5	GALC, SLC6A3, PSAP, ARSA
42	postpartum depression	12.5	SLC6A4, HTR1A
43	albinism	12.5	SLC6A4, STS, ARSE, ARSH
44	personality disorder	12.5	SLC6A4, SLC6A3
45	panic disorder	12.4	SLC6A4, HTR1A
46	central nervous system disease	12.3	SLC6A4, SLC6A3, IDUA
47	social phobia	12.3	HTR1A, SLC6A4
48	wilson disease	12.3	ARSA, SLC6A3, SLC6A4
49	parametritis	12.3	SLC6A3, HTR1A
50	ichthyosis	12.2	STS, SUMF1, ARSB, ARSA, ARSE, ARSH

Clinical features from OMIM: 250100

Approved drugs:

Drug clinical trials:

Cell-based therapeutics:

Genetic tests related to metachromatic leukodystrophy:

id	Genetic test	Affiliating Genes
1	Metachromatic Leukodystrophy clinical/research	ARSA

MalaCards organs/tissues related to metachromatic leukodystrophy:

²²

MGI Mouse Phenotypes related to metachromatic leukodystrophy:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	skeleton phenotype	MP:0005390	9.1	GALC, PSAP, HEXA, CTSL1, SUMF1, IDUA
2	hearing/vestibular/ear phenotype	MP:0005377	8.8	PSAP, HEXA, CTSL1, IDUA, ARSB, ARSA
3	hematopoietic system phenotype	MP:0005397	8.6	SUMF1, GLB1, ARSB, ARSA, ARSG, CTSL1
4	liver/biliary system phenotype	MP:0005370	8.3	GALC, PSAP, HEXA, CTSL1, SUMF1, GLB1
5	vision/eye phenotype	MP:0005391	8.2	GALNS, GALC, PSAP, HEXA, CTSL1, IDUA
6	renal/urinary system phenotype	MP:0005367	7.8	GALNS, GALC, PSAP, HEXA, CTSL1, GLB1
7	growth/size phenotype	MP:0005378	6.1	GALC, SLC6A4, SLC6A3, PSAP, HEXA, CTSL1
8	homeostasis/metabolism phenotype	MP:0005376	5.4	HEXA, PSAP, SLC6A3, SLC6A4, GALC, GALNS
9	behavior/neurological phenotype	MP:0005386	5.4	HEXA, PSAP, SLC6A3, SLC6A4, GALC, GAL3ST1
10	nervous system phenotype	MP:0003631	5.3	UGT8, GAL3ST1, GALC, SLC6A4, SLC6A3, PSAP

Articles related to metachromatic leukodystrophy:

(show top 50)    (show all 124)

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	Molecular bases of metachromatic leukodystrophy in Polish patients. (20339381)	Lugowska A.... Tylki-Szymanska A.	2010	ARSA
3	Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. (19267410)	Kuchar L.... Harzer K.	2009	PSAP
4	Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy. (19054018)	Bisgaard A.M.... Christensen E.	2009	ARSA
5	Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy. (19224915)	Matzner U.... Gieselmann V.	2009	ARSA, PSAP
6	Identification of a new Arylsulfatase A (ARSA) gene m utation in Tunisian patients with metachromatic leukodystrophy (MLD). (19699491)	Dorboz I.... Boespflug-Tanguy O.	2009	ARSA
7	Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy. (18768108)	Onder E.... Ozkara H.A.	2009	ARSA, PSAP
8	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. (18693274)	Grossi S.... Filocamo M.	2008	ARSA, PSAP
9	Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. (18339182)	Gieselmann V.	2008	ARSA
10	Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency. (17616409)	Deconinck N.... Dan B.	2008	PSAP
11	Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts. (17341424)	Consiglio A.... Bordignon C.	2007	ARSA
12	A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy. (17204333)	Saravanan K.... Franken S.	2007	ARSA
13	ARSA gene mutations in five Chinese metachromatic leukodystrophy patients. (17560502)	Wang J.... Jiang Y.	2007	ARSA
14	Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient. (16782379)	Regis S.... Filocamo M.	2006	ARSA
15	Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy. (16554462)	Givogri M.I.... Bongarzone E.	2006	ARSA
16	Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. (16678723)	Bertelli M.... Pandolfo M.	2006	ARSA
17	Gene therapy of metachromatic leukodystrophy. (15709909)	Matzner U.... Gieselmann V.	2005	ARSA
18	Coexpression of formylglycine-generating enzyme is essential for synthesis and secretion of functional arylsulfatase A in a mouse model of metachromatic leukodystrophy. (16076251)	Takakusaki Y.... Shimada T.	2005	ARSA, SUMF1
19	An arylsulphatase A (ARSA) frameshift mutation (289in sG) in metachromatic leukodystrophy (MLD). (19565006)	Perkins K.J.... Morris C.P.	2005	ARSA
20	Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. (15772092)	Matzner U.... Gieselmann V.	2005	ARSA
21	An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient. (14571263)	Regis S.... Filocamo M.	2004	ARSA
22	Metachromatic leukodystrophy: recent research developments. (14572136)	Gieselmann V.	2003	ARSA, MAL
23	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
24	Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy. (11430883)	D'Hooge R.... De Deyn P.P.	2001	ARSA
25	In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice. (11231629)	Consiglio A.... Naldini L.	2001	ARSA
26	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
27	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
28	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
29	Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation. (9600244)	Gomez-Lira M.... Salviati A.	1998	ARSA
30	The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. (9744473)	Ricketts M.H.... Manowitz P.	1998	ARSA
31	A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient. (9272717)	Regis S.... Gatti R.	1997	ARSA
32	Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy. (9096767)	Berger J.... Molzer B.	1997	ARSA
33	Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. (8962139)	Hess B.... Gieselmann V.	1996	ARSA
34	Gene therapy for metachromatic leukodystrophy. (8677802)	Ohashi T.... Eto Y.	1996	ARSA, ARSH
35	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
36	Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. (7825603)	Heinisch U.... Gieselmann V.	1995	ARSA
37	Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD) (8577048)	Eto Y.... Tsuda T.	1995	ARSH
38	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
39	Molecular genetics of metachromatic leukodystrophy. (7866401)	Gieselmann V.... Morris C.P.	1994	ARSA, PSAP
40	High residual arylsulfatase A (ARSA) activity in a patient with late- infantile metachromatic leukodystrophy. (8101038)	Kreysing J.... Gieselmann V.	1993	ARSA
41	Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. (7906588)	Barth M.L.... Harris A.	1993	ARSA
42	Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. (8095918)	Barth M.L.... Harris A.	1993	ARSA
43	An arylsulfatase A (ARSA) missense mutation (T274M) causing late- infantile metachromatic leukodystrophy. (8104633)	Harvey J.S.... Morris C.P.	1993	ARSA
44	Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activity. (1359786)	Molzer B.... Zobel M.	1992	ARSA
45	Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. (1684088)	Fluharty A.L.... Gieselmann V.	1991	ARSA
46	An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy. (1676699)	Bohne W.... Gieselmann V.	1991	ARSA
47	Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. (1678251)	Gieselmann V.... von Figura K.	1991	ARSA
48	The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy. (2066109)	Zhang X.L.... Wenger D.A.	1991	PSAP
49	Adult forms of metachromatic leukodystrophy: clinical and biochemical approach. (1687776)	Baumann N.... Turpin J.C.	1991	ARSA
50	An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. (1671769)	Gieselmann V.	1991	ARSA

Genes related to metachromatic leukodystrophy according to GeneCards:

(show all 23)

id	Symbol	Description	Score	GeneCards Section Context
1	PSAP	prosaposin	11.1	Publications, Summaries
2	ARSA	arylsulfatase A	11.0	Publications, Orthologs
3	GAL3ST1	galactose-3-O-sulfotransferase 1	11.0	Publications
4	MAL	mal, T-cell differentiation protein	11.0	Publications
5	ARSH	arylsulfatase family, member H	11.0	Publications
6	ARSE	arylsulfatase E (chondrodysplasia punctata 1)	11.0
7	MAP9	microtubule-associated protein 9	11.0
8	IDUA	iduronidase, alpha-L-	11.0	Publications
9	SUMF1	sulfatase modifying factor 1	11.0	Publications
10	UGT8	UDP glycosyltransferase 8	11.0	Publications
11	ARSD	arylsulfatase D	11.0
12	GALC	galactosylceramidase	11.0	Publications
13	ARSG	arylsulfatase G	11.0	Orthologs
14	CTSL1	cathepsin L1	11.0	Publications
15	MAN1B1	mannosidase, alpha, class 1B, member 1	11.0
16	HEXA	hexosaminidase A (alpha polypeptide)	11.0
17	GALNS	galactosamine (N-acetyl)-6-sulfate sulfatase	11.0	Orthologs
18	ARSB	arylsulfatase B	11.0	Publications
19	GLB1	galactosidase, beta 1	11.0
20	STS	steroid sulfatase (microsomal), isozyme S	11.0
21	SLC6A3	solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	11.0	Publications
22	SLC6A4	solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	11.0	Publications
23	HTR1A	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	11.0	Publications

Pathways related to metachromatic leukodystrophy according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	CS/DS degradation38	9.2	HEXA, IDUA, ARSB
2	Sphingolipid metabolism20	9.1	UGT8, ARSA, GLB1, GALC, GAL3ST1
3	Glycosaminoglycan degradation20	8.7	GALNS, HEXA, GLB1, IDUA, ARSB
4	Metabolism of lipids and lipoproteins38	8.1	STS, PSAP, GALC, GAL3ST1, SUMF1, ARSA
5	Metabolic pathways20	7.7	GALNS, GALC, HEXA, GLB1, IDUA, MAN1B1
6	Lysosome20	7.4	ARSG, GALNS, GALC, PSAP, HEXA, CTSL1

Compounds related to metachromatic leukodystrophy according to GeneDecks:

(show top 50)    (show all 100)

id	Compound	Score	Top Affiliating Genes
1	p-nitrocatechol sulfate32	10.4	ARSH, ARSA
2	psychosine32	10.3	GAL3ST1, GALC, PSAP
3	lactosylceramide32	10.3	PSAP, UGT8, GAL3ST1
4	glycosphingolipid32	10.2	PSAP, UGT8, ARSA
5	n-acetylgalactosamine 6-sulfate32	10.2	GALNS, ARSH, ARSA
6	galactosylceramide32	10.1	PSAP, GALC, GAL3ST1, ARSA
7	estradiol sulfate32	10.1	ARSH, STS
8	4-methylumbelliferyl sulfate32	10.0	STS, ARSH
9	formylglycine32	9.9	ARSH, SUMF1, ARSB, ARSA
10	medrogestone32	9.8	STS, ARSH
11	estrone-3-o-sulfamate32	9.8	ARSH, STS
12	4-methylumbelliferyl-beta-d-glucoside32	9.7	PSAP, GALC
13	glucuronic acid32	9.7	GALNS, HEXA, ARSH
14	estrone sulfate32 18	10.7	ARSH, ARSD, ARSE, STS
15	glycolipid32	9.7	HEXA, PSAP, GALC, GAL3ST1, UGT8
16	ganglioside32	9.5	ARSA, PSAP, HEXA, IDUA, GLB1
17	sulfatide32	9.5	UGT8, PSAP, ARSA, ARSH, GAL3ST1, GLB1
18	glycosaminoglycan32	9.5	ARSA, GALNS, IDUA, ARSB, ARSH
19	mannose32	9.4	ARSA, ARSB, CTSL1, HEXA, IDUA
20	mucopolysaccharide32	9.4	ARSB, STS, ARSH, IDUA, ARSA
21	(123i)-2beta-carbomethoxy-3beta-(4-iodophenyl)tropane32	9.3	SLC6A3, SLC6A4
22	chondroitin32 18	10.3	GALNS, ARSB, CTSL1, GLB1
23	gbr 1293532	9.3	SLC6A4, SLC6A3
24	5-methoxy-6-methyl-2-aminoindan32	9.3	SLC6A3, SLC6A4
25	heparan sulfate32 18	10.3	HEXA, CTSL1, IDUA, ARSA, ARSH, GALNS
26	estrone32 9 18 9	12.2	STS, ARSA, ARSE, ARSD, ARSH, ARSB
27	chondroitin sulfate32 18	10.2	GLB1, ARSB, ARSH, GALNS, CTSL1
28	2beta-carbomethoxy-3beta-(4-iodophenyl)tropane32	9.1	SLC6A4, SLC6A3
29	mannose 6-phosphate32 18	10.0	ARSA, GALC, PSAP, HEXA, CTSL1, IDUA
30	gbr 1290932	9.0	SLC6A4, SLC6A3
31	125i32	9.0	SLC6A4, PSAP, SLC6A3
32	rimcazole32	8.9	SLC6A3, SLC6A4
33	carbon-1132	8.9	SLC6A3, SLC6A4, HTR1A
34	p-chloroamphetamine32	8.9	HTR1A, SLC6A4, SLC6A3
35	escitalopram32 34 9 18 9	12.9	HTR1A, SLC6A4, SLC6A3
36	mdma32	8.9	HTR1A, SLC6A4, SLC6A3
37	nefazodone34 32 9 9	11.9	SLC6A3, HTR1A, SLC6A4
38	trimipramine32 34 9 9	11.9	SLC6A4, HTR1A, SLC6A3
39	venlafaxine32 34 9 18 9	12.9	SLC6A4, HTR1A, SLC6A3
40	maoa32	8.9	SLC6A4, SLC6A3, HTR1A
41	cerebroside32	8.9	ARSA, STS, UGT8, HEXA, GAL3ST1, ARSH
42	sertraline32 34 9 18 9	12.9	HTR1A, SLC6A3, SLC6A4
43	clomipramine32 34 9 9	11.8	SLC6A3, SLC6A4, HTR1A
44	fluvoxamine32 34 9 9	11.8	HTR1A, SLC6A4, SLC6A3
45	nortriptyline32 34 9 9	11.7	SLC6A3, HTR1A, SLC6A4
46	paroxetine32 34 9 9	11.7	SLC6A4, SLC6A3, HTR1A
47	sulfate32 18	9.4	ARSH, ARSA, ARSB, ARSD, IDUA, ARSE
48	lipid32	8.3	GALC, HEXA, STS, PSAP, MAL, ARSB
49	calcium32 9 18 9	10.4	ARSG, PSAP, STS, CTSL1, SUMF1, ARSE
50	cysteine32	7.1	GALNS, SLC6A4, SLC6A3, ARSH, ARSA, ARSB

Cellular components related to metachromatic leukodystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	lysosome	GO:005764	8.3	STS, CTSL1, ARSB, ARSA, ARSG, ARSD
2	endoplasmic reticulum lumen	GO:005788	7.9	STS, SUMF1, ARSB, ARSA, ARSE, ARSG
3	lysosomal lumen	GO:043202	7.7	ARSA, GALNS, GALC, PSAP, HEXA, CTSL1

Biological processes related to metachromatic leukodystrophy according to GeneDecks:

(show all 16)

id	Name	GO ID	Score	Top Affiliating Genes
1	galactosylceramide biosynthetic process	GO:006682	10.2	GAL3ST1, UGT8
2	myelination	GO:042552	9.8	MAL, HEXA, GAL3ST1
3	chondroitin sulfate catabolic process	GO:030207	9.7	HEXA, IDUA, ARSB
4	response to pH	GO:009268	9.5	ARSB, STS
5	keratan sulfate catabolic process	GO:042340	9.5	GLB1, HEXA, GALNS
6	chondroitin sulfate metabolic process	GO:030204	9.4	HEXA, IDUA, ARSB
7	keratan sulfate metabolic process	GO:042339	9.3	GLB1, HEXA, GALNS
8	glycosaminoglycan metabolic process	GO:030203	8.9	GALNS, HEXA, GLB1, IDUA, ARSB
9	monoamine transport	GO:015844	8.7	SLC6A3, SLC6A4
10	carbohydrate metabolic process	GO:005975	8.6	ARSB, IDUA, GLB1, HEXA, GALC, GALNS
11	post-translational protein modification	GO:043687	8.1	STS, SUMF1, MAN1B1, ARSB, ARSA, ARSE
12	cellular protein metabolic process	GO:044267	8.1	STS, SUMF1, MAN1B1, ARSB, ARSA, ARSE
13	glycosphingolipid metabolic process	GO:006687	7.1	GAL3ST1, ARSD, ARSH, ARSG, ARSE, ARSA
14	sphingolipid metabolic process	GO:006665	7.1	HEXA, STS, PSAP, GALC, GAL3ST1, SUMF1
15	phospholipid metabolic process	GO:006644	7.1	SUMF1, GLB1, ARSB, ARSA, ARSE, ARSG
16	small molecule metabolic process	GO:044281	6.5	HEXA, STS, PSAP, GALC, GALNS, GAL3ST1

Molecular functions related to metachromatic leukodystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sulfuric ester hydrolase activity	GO:008484	9.5	ARSA, STS, GALNS
2	N-acetylgalactosamine-4-sulfatase activity	GO:003943	9.4	ARSB, GALNS
3	cation binding	GO:043169	9.2	GALC, HEXA, GLB1, IDUA
4	arylsulfatase activity	GO:004065	9.1	ARSD, ARSB, ARSA, ARSE, ARSG, ARSH
5	monoamine transmembrane transporter activity	GO:008504	9.0	SLC6A3, SLC6A4
6	metal ion binding	GO:046872	7.9	GALNS, STS, SUMF1, ARSB, ARSE, ARSG