DisGeNET - a database of gene-disease associations

Leukodystrophy, Metachromatic, C0023522

Gene: ARSA ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs777431148

ARSA

0.010

GeneticVariation

BEFREE

The novel p.L113P mutation in a Pakistani family with late infantile MLD has a pathogenic and destructive effect on the protein structure and function of ARSA.

28799099

2017

dbSNP:

rs1410667898

ARSA

0.010

GeneticVariation

BEFREE

A metachromatic leukodystrophy was diagnosed by decreased arylsulfatase-A activity in leucocytes/fibroblasts and identification of a compound heterozygous mutation in the ARSA gene: c.542T>G (exon 3) and the novel mutation c.1013T>C (exon 6).

26890752

2016

dbSNP:

rs1220454918

ARSA

0.010

GeneticVariation

BEFREE

The significant association of age at the onset of MLD symptoms with APOE ε2/ε3/ε4 and LRP1 c.766C>T polymorphisms was shown in multivariate stepwise regression analysis, in which other factors known to affect age at onset of the disease, i.e. clinical type of MLD, family connection of the patient and sex were also analyzed.

23701968

2013

dbSNP:

rs2071421

ARSA

0.010

GeneticVariation

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.

16613739

2006

dbSNP:

rs1199771724

ARSA

0.010

GeneticVariation

BEFREE

Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type.

16110195

2005

dbSNP:

rs199476375

ARSA

0.010

GeneticVariation

BEFREE

Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.

10381328

1999

dbSNP:

rs6151428

ARSA

0.010

GeneticVariation

BEFREE

It is therefore concluded that the R496H mutation of ARSA does not negatively influence the activity of ARSA and is not a cause of MLD.

9744473

1998

dbSNP:

rs199476362

ARSA

0.010

GeneticVariation

BEFREE

Apparently, the substitution of leucine 76 by proline is a common ASA polymorphism, neither being related to MLD nor creating ASA pseudodeficiency.

8707308

1996

dbSNP:

rs1057516730

ARSA

0.700

GeneticVariation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs199476352

ARSA

0.700

CausalMutation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs199476355

ARSA

0.700

CausalMutation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs199476355

ARSA

0.700

GeneticVariation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs398123411

ARSA

0.700

CausalMutation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs74315467

ARSA

0.700

CausalMutation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs74315472

ARSA

0.700

CausalMutation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs74315473

ARSA

0.700

CausalMutation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs74315473

ARSA

0.700

GeneticVariation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs74315479

ARSA

0.700

GeneticVariation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs74315479

ARSA

0.700

CausalMutation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs74315479

ARSA

0.700

GeneticVariation

CLINVAR

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.

27261095

2016

dbSNP:

rs761555167

ARSA

0.700

GeneticVariation

CLINVAR

Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree.

27374302

2016

dbSNP:

rs786204673

ARSA

0.700

CausalMutation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs80338815

ARSA

0.700

CausalMutation

CLINVAR

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

26462614

2016

dbSNP:

rs1057517036

ARSA

0.700

GeneticVariation

CLINVAR

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.

26131420

2015

dbSNP:

rs1375757476

ARSA

0.700

CausalMutation

CLINVAR

Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.

26553228

2015