PedAM

Pediatric Disease Annotations & Medicines


	metachromatic leukodystrophy

Disease ID	76
Disease	metachromatic leukodystrophy
Definition	An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
Synonym	arylsulfatase a defic dis arylsulfatase a deficiency disease cerebral sclerosis, diffuse, metachromatic form cerebroside sulfatase deficiency cerebroside sulphatase defic dis cerebroside sulphatase deficiency disease familial progressive cerebral sclerosis leukodystrophies, metachromatic leukodystrophy metachromatic leukodystrophy, metachromatic leukodystrophy, metachromatic [disease/finding] leukoencephalopathies, metachromatic leukoencephalopathy, metachromatic lipidosis, sulfatide metachromatic leucodystrophy metachromatic leucodystrophy (disorder) metachromatic leukodystrophies metachromatic leukodystrophy (disorder) metachromatic leukodystrophy (disorder) [ambiguous] metachromatic leukodystrophy, nos metachromatic leukoencephalopathies metachromatic leukoencephalopathy metachromatic leukoencephaly mld mld - metachromatic leucodystrophy mld, nos scholz cerebral sclerosis scholz-bielschowsky-henneberg diffuse cerebral sclerosis severe deficiency of arylsulfatase sulfatide lipidosis sulfatide lipidosis, nos sulfatide lipoidosis sulphatide lipidosis van bogaert-nijssen disease
Orphanet	ORPHANET:512
OMIM	OMIM:250100 OMIM:615843
DOID	DOID:10581
ICD10	ICD10CM:E75.25
UMLS	C0023522
MeSH	D007966
SNOMED-CT	SNOMEDCT_US_2016_09_01:396338004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0020619 \| hypogonadism \| 1 C0677607 \| hashimoto thyroiditis \| 1 C0442874 \| neuropathy \| 1 C0271623 \| hypogonadotrophic hypogonadism \| 1 C0013421 \| dystonia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) SUMF1 \| 285362 \| UniProtKB-KW ARSA \| 410 \| CLINVAR;CTD_human;UNIPROT;GHR;UniProtKB-KW ARSB \| 411 \| UniProtKB-KW DEGS1 \| 8560 \| OMIM PSAP \| 5660 \| UniProtKB-KW;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 410 \| ARSA \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:82) 4074 \| M6PR \| DISEASES 8935 \| SKAP2 \| DISEASES 28954 \| REM1 \| DISEASES 410 \| ARSA \| DISEASES 5816 \| PVALB \| DISEASES 412 \| STS \| DISEASES 79152 \| FA2H \| DISEASES 54623 \| PAF1 \| DISEASES 8529 \| CYP4F2 \| DISEASES 50856 \| CLEC4A \| DISEASES 80218 \| NAA50 \| DISEASES 4035 \| LRP1 \| DISEASES 6351 \| CCL4 \| DISEASES 1022 \| CDK7 \| DISEASES 53 \| ACP2 \| DISEASES 90070 \| LACRT \| DISEASES 80896 \| NPL \| DISEASES 6498 \| SKIL \| DISEASES 3832 \| KIF11 \| DISEASES 2581 \| GALC \| DISEASES 4001 \| LMNB1 \| DISEASES 3074 \| HEXB \| DISEASES 9368 \| SLC9A3R1 \| DISEASES 7305 \| TYROBP \| DISEASES 175 \| AGA \| DISEASES 411 \| ARSB \| DISEASES 3371 \| TNC \| DISEASES 793 \| CALB1 \| DISEASES 3073 \| HEXA \| DISEASES 285362 \| SUMF1 \| DISEASES 146433 \| IL34 \| DISEASES 6006 \| RHCE \| DISEASES 5267 \| SERPINA4 \| DISEASES 762 \| CA4 \| DISEASES 29 \| ABR \| DISEASES 5354 \| PLP1 \| DISEASES 2548 \| GAA \| DISEASES 2720 \| GLB1 \| DISEASES 6620 \| SNCB \| DISEASES 23209 \| MLC1 \| DISEASES 4118 \| MAL \| DISEASES 493829 \| TRIM72 \| DISEASES 6448 \| SGSH \| DISEASES 2744 \| GLS \| DISEASES 3214 \| HOXB4 \| DISEASES 6007 \| RHD \| DISEASES 3423 \| IDS \| DISEASES 9514 \| GAL3ST1 \| DISEASES 5926 \| ARID4A \| DISEASES 26503 \| SLC17A5 \| DISEASES 3482 \| IGF2R \| DISEASES 2760 \| GM2A \| DISEASES 1903 \| S1PR3 \| DISEASES 51150 \| SDF4 \| DISEASES 4638 \| MYLK \| DISEASES 2673 \| GFPT1 \| DISEASES 280 \| AMY2B \| DISEASES 5654 \| HTRA1 \| DISEASES 5688 \| PSMA7 \| DISEASES 11253 \| MAN1B1 \| DISEASES 10555 \| AGPAT2 \| DISEASES 5476 \| CTSA \| DISEASES 5456 \| POU3F4 \| DISEASES 2707 \| GJB3 \| DISEASES 7498 \| XDH \| DISEASES 347527 \| ARSH \| DISEASES 415 \| ARSE \| DISEASES 4155 \| MBP \| DISEASES 4099 \| MAG \| DISEASES 1267 \| CNP \| DISEASES 5660 \| PSAP \| DISEASES 8341 \| HIST1H2BN \| DISEASES 5649 \| RELN \| DISEASES 3702 \| ITK \| DISEASES 3908 \| LAMA2 \| DISEASES 5830 \| PEX5 \| DISEASES 629 \| CFB \| DISEASES 222659 \| PXT1 \| DISEASES 3295 \| HSD17B4 \| DISEASES 10424 \| PGRMC2 \| DISEASES 3347 \| HTN3 \| DISEASES 5053 \| PAH \| DISEASES
Locus	(Waiting for update.)

Disease ID	76
Disease	metachromatic leukodystrophy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:22) HP:0001324 \| Muscle weakness HP:0003011 \| Abnormality of the musculature HP:0000708 \| Behavioral abnormality HP:0001315 \| Reduced tendon reflexes HP:0009830 \| Peripheral neuropathy HP:0002816 \| Genu recurvatum HP:0001251 \| Ataxia HP:0100576 \| Amaurosis fugax HP:0001250 \| Seizures HP:0001257 \| Spasticity HP:0002376 \| Developmental regression HP:0001252 \| Muscular hypotonia HP:0001259 \| Coma HP:0000762 \| Decreased nerve conduction velocity HP:0002251 \| Aganglionic megacolon HP:0002167 \| Neurological speech impairment HP:0001347 \| Hyperreflexia HP:0000639 \| Nystagmus HP:0001249 \| Intellectual disability HP:0000648 \| Optic atrophy HP:0001387 \| Joint stiffness HP:0001288 \| Gait disturbance
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0000135 \| Hypogonadism \| 1 HP:0000044 \| Hypogonadotrophic hypogonadism \| 1 HP:0002333 \| Progressive degeneration of movement \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0005266 \| Intestinal polyp \| 1 HP:0001942 \| Metabolic acidosis \| 1 HP:0001332 \| Dystonia \| 1 HP:0001941 \| acidemia \| 1 HP:0100762 \| Hemobilia \| 1

Disease ID	76
Disease	metachromatic leukodystrophy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:10) C0748607 \| recurrent seizures C0497327 \| dementia C0442874 \| neuropathy C0426970 \| spastic quadriplegia C0338451 \| frontotemporal dementia C0268435 \| proximal renal tubular acidosis C0033975 \| psychosis C0031117 \| peripheral nerve disorders C0018994 \| hemobilia C0016977 \| biliary disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0018994 \| hemobilia \| 1 C0442874 \| neuropathy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:151)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434215	9600244	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy (MLD) is an autosomal recessive storage disease caused by deficiency of the lysosomal enzyme, arylsulfatase A.	0.514051057	1998	ARSA	22	50627221	A	G
rs148092995	14517960	410	ARSA	umls:C0023522	UNIPROT	Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).	0.514051057	2003	ARSA	22	50626154	C	T
rs148403406	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50626862	C	T
rs199476339	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50627721	G	T
rs199476340	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50627686	C	G
rs199476341	19606494	410	ARSA	umls:C0023522	UNIPROT	Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.	0.514051057	2009	ARSA	22	50626878	C	T,G
rs199476342	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50626594	T	C
rs199476343	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50626221	C	G
rs199476344	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50625657	A	T
rs199476345	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50626910	T	C
rs199476346	15326627	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused by the deficiency of arylsulphatase A (ASA).	0.514051057	2004	ARSA	22	50627689	C	T
rs199476347	15326627	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused by the deficiency of arylsulphatase A (ASA).	0.514051057	2004	ARSA	22	50626246	C	T
rs199476348	15326627	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused by the deficiency of arylsulphatase A (ASA).	0.514051057	2004	ARSA	22	50627046	A	G
rs199476349	15326627	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused by the deficiency of arylsulphatase A (ASA).	0.514051057	2004	ARSA	22	50626250	C	T
rs199476349	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626250	C	T
rs199476350	14517960	410	ARSA	umls:C0023522	UNIPROT	Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).	0.514051057	2003	ARSA	22	50627680	C	T
rs199476351	10477432	410	ARSA	umls:C0023522	UNIPROT	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.	0.514051057	1999	ARSA	22	50627571	A	G
rs199476352	10477432	410	ARSA	umls:C0023522	UNIPROT	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.	0.514051057	1999	ARSA	22	50627375	G	A
rs199476353	10477432	410	ARSA	umls:C0023522	UNIPROT	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.	0.514051057	1999	ARSA	22	50627345	G	C
rs199476354	10477432	410	ARSA	umls:C0023522	UNIPROT	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.	0.514051057	1999	ARSA	22	50626760	G	A
rs199476355	10477432	410	ARSA	umls:C0023522	UNIPROT	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.	0.514051057	1999	ARSA	22	50626264	C	T
rs199476356	8891236	410	ARSA	umls:C0023522	UNIPROT	Two novel mutations in the arylsulfatase A (ASA) gene from a Japanese patient with the late-infantile form of metachromatic leukodystrophy (MLD) were identified.	0.514051057	1996	ARSA	22	50626204	C	T,A
rs199476356	10477432	410	ARSA	umls:C0023522	UNIPROT	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.	0.514051057	1999	ARSA	22	50626204	C	T,A
rs199476357	19606494	410	ARSA	umls:C0023522	UNIPROT	Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.	0.514051057	2009	ARSA	22	50627619	A	G
rs199476358	19606494	410	ARSA	umls:C0023522	UNIPROT	Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.	0.514051057	2009	ARSA	22	50627213	G	C,A
rs199476359	19606494	410	ARSA	umls:C0023522	UNIPROT	Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.	0.514051057	2009	ARSA	22	50626216	G	A
rs199476360	19606494	410	ARSA	umls:C0023522	UNIPROT	Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.	0.514051057	2009	ARSA	22	50626208	C	T,G,A
rs199476361	19606494	410	ARSA	umls:C0023522	UNIPROT	Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.	0.514051057	2009	ARSA	22	50625453	T	C
rs199476362	8707308	410	ARSA	umls:C0023522	BeFree	Apparently, the substitution of leucine 76 by proline is a common ASA polymorphism, neither being related to MLD nor creating ASA pseudodeficiency.	0.514051057	1996	ARSA	22	50627398	A	G
rs199476363	9090526	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.	0.514051057	1997	ARSA	22	50627341	C	T
rs199476364	9090526	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.	0.514051057	1997	ARSA	22	50627270	C	T
rs199476365	9090526	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.	0.514051057	1997	ARSA	22	50627171	C	G,A
rs199476366	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626708	C	T
rs199476366	9090526	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.	0.514051057	1997	ARSA	22	50626708	C	T
rs199476367	9090526	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.	0.514051057	1997	ARSA	22	50626690	G	T
rs199476368	9090526	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.	0.514051057	1997	ARSA	22	50626187	C	T
rs199476369	9090526	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.	0.514051057	1997	ARSA	22	50625936	C	G
rs199476370	9090526	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.	0.514051057	1997	ARSA	22	50625633	G	A
rs199476371	7825603	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A.	0.514051057	1995	NA	NA	NA	NA	NA
rs199476372	7825603	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A.	0.514051057	1995	ARSA	22	50626942	C	G
rs199476373	11020646	410	ARSA	umls:C0023522	UNIPROT	These mutations in the ARSA gene have not been previously reported and may be useful when diagnosing metachromatic leukodystrophy in other affected Vietnamese individuals.	0.514051057	2000	ARSA	22	50627198	G	C
rs199476374	10381328	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy (MLD) is a lysosomal storage disease resulting from the deficient activity of arylsulfatase A (ASA) and the accumulation of sulfatides.	0.514051057	1999	ARSA	22	50626941	G	T
rs199476375	10381328	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy (MLD) is a lysosomal storage disease resulting from the deficient activity of arylsulfatase A (ASA) and the accumulation of sulfatides.	0.514051057	1999	ARSA	22	50627182	G	A
rs199476376	20339381	410	ARSA	umls:C0023522	UNIPROT	Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.	0.514051057	2010	ARSA	22	50625594	G	A
rs199476377	8891236	410	ARSA	umls:C0023522	UNIPROT	Two novel mutations in the arylsulfatase A (ASA) gene from a Japanese patient with the late-infantile form of metachromatic leukodystrophy (MLD) were identified.	0.514051057	1996	ARSA	22	50627166	C	T,G
rs199476378	14517960	410	ARSA	umls:C0023522	UNIPROT	Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).	0.514051057	2003	ARSA	22	50626970	A	T
rs199476379	14517960	410	ARSA	umls:C0023522	UNIPROT	Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).	0.514051057	2003	ARSA	22	50626211	A	G
rs199476380	14517960	410	ARSA	umls:C0023522	UNIPROT	Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).	0.514051057	2003	ARSA	22	50625383	T	G
rs199476381	7581401	410	ARSA	umls:C0023522	UNIPROT	Identification of seven novel mutations associated with metachromatic leukodystrophy.	0.514051057	1995	ARSA	22	50626997	C	T
rs199476382	7581401	410	ARSA	umls:C0023522	UNIPROT	Identification of seven novel mutations associated with metachromatic leukodystrophy.	0.514051057	1995	ARSA	22	50626195	C	T
rs199476383	15710861	410	ARSA	umls:C0023522	UNIPROT	Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.	0.514051057	2005	ARSA	22	50626857	A	C
rs199476384	20339381	410	ARSA	umls:C0023522	UNIPROT	Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.	0.514051057	2010	ARSA	22	50626699	A	G
rs199476385	14680985	410	ARSA	umls:C0023522	UNIPROT	Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.	0.514051057	2003	ARSA	22	50625263	G	C
rs199476386	10533072	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.	0.514051057	1999	ARSA	22	50626598	C	A
rs199476387	15026521	410	ARSA	umls:C0023522	UNIPROT	Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.	0.514051057	2004	ARSA	22	50626249	C	T
rs199476388	15026521	410	ARSA	umls:C0023522	UNIPROT	Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.	0.514051057	2004	ARSA	22	50625204	A	G,C
rs199476389	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626234	A	G
rs199476389	9819708	410	ARSA	umls:C0023522	UNIPROT	Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.	0.514051057	1998	ARSA	22	50626234	A	G
rs199476390	10751093	410	ARSA	umls:C0023522	UNIPROT	Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.	0.514051057	2000	ARSA	22	50626191	C	A
rs199476391	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625614	C	T,A
rs199476391	20339381	410	ARSA	umls:C0023522	UNIPROT	Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.	0.514051057	2010	ARSA	22	50625614	C	T,A
rs199476392	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50625386	A	G
rs2071421	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625988	T	C
rs2071421	16613739	410	ARSA	umls:C0023522	BeFree	In addition, the presence of the most common mutations associated with ASA pseudo-deficiency (N350S, 1524+95 A>G) and metachromatic leukodystrophy (P426L) was detected in all investigated patients.	0.514051057	2006	ARSA	22	50625988	T	C
rs28940893	16613739	410	ARSA	umls:C0023522	BeFree	In addition, the presence of the most common mutations associated with ASA pseudo-deficiency (N350S, 1524+95 A>G) and metachromatic leukodystrophy (P426L) was detected in all investigated patients.	0.514051057	2006	ARSA	22	50625392	G	A
rs28940893	16140556	410	ARSA	umls:C0023522	BeFree	Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.	0.514051057	2005	ARSA	22	50625392	G	A
rs28940893	20339381	410	ARSA	umls:C0023522	BeFree	Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A).	0.514051057	2010	ARSA	22	50625392	G	A
rs28940893	20339381	410	ARSA	umls:C0023522	UNIPROT	Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.	0.514051057	2010	ARSA	22	50625392	G	A
rs28940893	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625392	G	A
rs28940894	11061266	410	ARSA	umls:C0023522	UNIPROT	Adult-onset MLD: a gene mutation with isolated polyneuropathy.	0.514051057	2000	ARSA	22	50626271	T	G
rs28940894	12035837	410	ARSA	umls:C0023522	BeFree	A homozygous mutation, thr286pro, found in her arylsulfatase A gene, decreased enzyme activity to a level consistent with a late onset form of MLD.	0.514051057	2002	ARSA	22	50626271	T	G
rs28940895	11456299	410	ARSA	umls:C0023522	UNIPROT	We report the case of a 50-year-old woman and her 32-year-old daughter, both of whom are affected with adult-onset metachromatic leukodystrophy (MLD) clinically presenting as peripheral neuropathy.	0.514051057	2001	ARSA	22	50625446	G	A
rs398123411	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625683	T	C
rs398123412	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625663	AG	-
rs398123414	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50627585	G	-
rs398123415	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50627746	C	-
rs398123416	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626935	A	-
rs398123418	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626057	G	A
rs398123419	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626052	C	A
rs60504011	14680985	410	ARSA	umls:C0023522	UNIPROT	Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.	0.514051057	2003	ARSA	22	50627219	G	A,C,T
rs6151411	7581401	410	ARSA	umls:C0023522	UNIPROT	Identification of seven novel mutations associated with metachromatic leukodystrophy.	0.514051057	1995	ARSA	22	50627380	G	A
rs6151425	14680985	410	ARSA	umls:C0023522	UNIPROT	Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.	0.514051057	2003	ARSA	22	50625640	G	C,A
rs6151428	9744473	410	ARSA	umls:C0023522	BeFree	The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy.	0.514051057	1998	ARSA	22	50625182	C	T,A
rs6151429	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625049	T	C
rs74315455	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50627329	C	T,A
rs74315455	1673291	410	ARSA	umls:C0023522	BeFree	In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD.	0.514051057	1991	ARSA	22	50627329	C	T,A
rs74315455	10477432	410	ARSA	umls:C0023522	UNIPROT	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.	0.514051057	1999	ARSA	22	50627329	C	T,A
rs74315455	21265945	410	ARSA	umls:C0023522	UNIPROT	She was diagnosed with MLD by genetic analysis, which revealed compound heterozygous ARSA missense mutations (p.G99D and p.T409I).	0.514051057	2011	ARSA	22	50627329	C	T,A
rs74315456	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50627338	G	A
rs74315456	1678251	410	ARSA	umls:C0023522	UNIPROT	Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.	0.514051057	1991	ARSA	22	50627338	G	A
rs74315457	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626976	A	C
rs74315457	9007312	410	ARSA	umls:C0023522	BeFree	It seems that I179S mutation on one allele with another mutation on the other allele reduces ASA activity, but the enzyme can still cope with a part of the substrate influx, leading to late-juvenile-onset MLD with such strikingly similar phenotypes remaining a little bit of the adult (psychiatric) type.	0.514051057	1996	ARSA	22	50626976	A	C
rs74315457	20339381	410	ARSA	umls:C0023522	UNIPROT	Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.	0.514051057	2010	ARSA	22	50626976	A	C
rs74315457	20339381	410	ARSA	umls:C0023522	BeFree	Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A).	0.514051057	2010	ARSA	22	50626976	A	C
rs74315458	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50627374	C	T
rs74315458	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50627374	C	T
rs74315459	15326627	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused by the deficiency of arylsulphatase A (ASA).	0.514051057	2004	ARSA	22	50626202	C	T
rs74315460	10751093	410	ARSA	umls:C0023522	UNIPROT	Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.	0.514051057	2000	ARSA	22	50627368	C	T
rs74315461	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50627261	C	T,A
rs74315461	7902317	410	ARSA	umls:C0023522	UNIPROT	We have identified a new mutation in the ASA gene of a patient with adult-type MLD.	0.514051057	1993	ARSA	22	50627261	C	T,A
rs74315462	7860068	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy is a lysosomal storage disease caused by deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of an Ashkenazi Jewish patient suffering from the severe late infantile form of the disease revealed a point mutation in exon 2 causing proline 136 to be substituted by leucine.	0.514051057	1995	ARSA	22	50627218	G	A
rs74315463	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50627051	C	T
rs74315463	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50627051	C	T
rs74315464	14517960	410	ARSA	umls:C0023522	UNIPROT	Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).	0.514051057	2003	ARSA	22	50627048	G	C,A
rs74315464	NA	410	ARSA	umls:C0023522	UNIPROT	NA	0.514051057	NA	ARSA	22	50627048	G	C,A
rs74315465	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50627012	G	C
rs74315465	NA	410	ARSA	umls:C0023522	UNIPROT	NA	0.514051057	NA	ARSA	22	50627012	G	C
rs74315466	NA	410	ARSA	umls:C0023522	UNIPROT	NA	0.514051057	NA	ARSA	22	50627007	C	T,A
rs74315467	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626877	G	T,A
rs74315467	14517960	410	ARSA	umls:C0023522	UNIPROT	Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).	0.514051057	2003	ARSA	22	50626877	G	T,A
rs74315468	7906588	410	ARSA	umls:C0023522	UNIPROT	Novel predicted disease-causing mutations have been defined in three patients with metachromatic leukodystrophy (MLD).	0.514051057	1993	ARSA	22	50626841	G	A
rs74315468	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626841	G	A
rs74315469	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626748	G	T
rs74315469	NA	410	ARSA	umls:C0023522	UNIPROT	NA	0.514051057	NA	ARSA	22	50626748	G	T
rs74315470	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626709	G	A
rs74315470	NA	410	ARSA	umls:C0023522	UNIPROT	NA	0.514051057	NA	ARSA	22	50626709	G	A
rs74315471	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626706	C	T
rs74315471	8101083	410	ARSA	umls:C0023522	UNIPROT	Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.	0.514051057	1993	ARSA	22	50626706	C	T
rs74315472	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626618	G	A
rs74315472	8723680	410	ARSA	umls:C0023522	UNIPROT	Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A.	0.514051057	1996	ARSA	22	50626618	G	A
rs74315473	20339381	410	ARSA	umls:C0023522	UNIPROT	Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.	0.514051057	2010	ARSA	22	50626265	G	A
rs74315473	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626265	G	A
rs74315474	7906588	410	ARSA	umls:C0023522	UNIPROT	Novel predicted disease-causing mutations have been defined in three patients with metachromatic leukodystrophy (MLD).	0.514051057	1993	ARSA	22	50626243	G	T
rs74315475	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626033	T	A
rs74315475	20339381	410	ARSA	umls:C0023522	UNIPROT	Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.	0.514051057	2010	ARSA	22	50626033	T	A
rs74315476	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625675	G	A
rs74315476	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50625675	G	A
rs74315477	NA	410	ARSA	umls:C0023522	UNIPROT	NA	0.514051057	NA	ARSA	22	50625674	C	T,G
rs74315478	10477432	410	ARSA	umls:C0023522	UNIPROT	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.	0.514051057	1999	ARSA	22	50625653	G	T,A
rs74315479	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625639	C	T
rs74315479	20339381	410	ARSA	umls:C0023522	UNIPROT	Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.	0.514051057	2010	ARSA	22	50625639	C	T
rs74315480	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625615	G	C,A
rs74315480	20339381	410	ARSA	umls:C0023522	UNIPROT	Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.	0.514051057	2010	ARSA	22	50625615	G	C,A
rs74315481	21265945	410	ARSA	umls:C0023522	UNIPROT	She was diagnosed with MLD by genetic analysis, which revealed compound heterozygous ARSA missense mutations (p.G99D and p.T409I).	0.514051057	2011	ARSA	22	50625443	G	A
rs74315481	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625443	G	A
rs74315483	18693274	410	ARSA	umls:C0023522	UNIPROT	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.	0.514051057	2008	ARSA	22	50626682	C	T
rs74315483	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626682	C	T
rs74315484	12788103	410	ARSA	umls:C0023522	UNIPROT	Sedimentation analysis was used to study the oligomerization capacity of C300F and P425T-substituted ARSA, two MLD-associated forms of the enzyme displaying reduced lysosomal half-lives.	0.514051057	2003	ARSA	22	50626228	C	A
rs74315485	12788103	410	ARSA	umls:C0023522	UNIPROT	Sedimentation analysis was used to study the oligomerization capacity of C300F and P425T-substituted ARSA, two MLD-associated forms of the enzyme displaying reduced lysosomal half-lives.	0.514051057	2003	ARSA	22	50625396	G	T
rs743616	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625611	G	C
rs754722529	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626153	C	A,T
rs765905826	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625444	TGGTATCAC	-
rs774153480	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625182	-	G,GGGG
rs786204599	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50627390	-	G
rs786204673	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50627327	G	-
rs794727904	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625257	GTCACAGCTGC	-
rs80338815	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50627165	C	T
rs80338819	10751093	410	ARSA	umls:C0023522	UNIPROT	Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.	0.514051057	2000	ARSA	22	50626676	C	T,G
rs80338819	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50626676	C	T,G
rs80338820	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625578	C	T
rs80338823	NA	410	ARSA	umls:C0023522	CLINVAR	NA	0.514051057	NA	ARSA	22	50625258	TCACAGCTGCG	-

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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