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	maroteaux lamy syndrome

Disease ID	1036
Disease	maroteaux lamy syndrome
Definition	Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
Synonym	arsb - arylsulfatase b deficiency arsb - arylsulphatase b deficiency arsb deficiencies arsb deficiency arylsulfatase b deficiencies arylsulfatase b deficiency arylsulphatase b deficiency deficiencies, arsb deficiencies, arylsulfatase b deficiencies, n-acetylgalactosamine-4-sulfatase deficiency of n-acetylgalactosamine-4-sulfatase deficiency of n-acetylgalactosamine-4-sulfatase (disorder) deficiency of n-acetylgalactosamine-4-sulphatase deficiency, arsb deficiency, arylsulfatase b deficiency, n-acetylgalactosamine-4-sulfatase dwarfism, polydystrophic maroteaux - lamy syndrome maroteaux-lamy disease maroteaux-lamy syndrome maroteaux-lamy syndrome (disorder) maroteaux-lamy syndrome, nos mps 6 mps vi mps vi - mucopolysaccharidosis vi mps6 mucopolysaccharidosis 6 mucopolysaccharidosis chondroitin sulfate b mucopolysaccharidosis chondroitin sulphate b mucopolysaccharidosis type 6 mucopolysaccharidosis type vi mucopolysaccharidosis vi mucopolysaccharidosis vi [disease/finding] mucopolysaccharidosis, mps-vi mucopolysaccharidosis, type vi n-acetylgalactosamine-4-sulfatase deficiencies n-acetylgalactosamine-4-sulfatase deficiency n-acetylgalactosamine-4-sulphatase deficiency polydystrophic dwarfism syndrome, maroteaux-lamy type 6, mucopolysaccharidosis type vi, mucopolysaccharidosis
Orphanet	ORPHANET:583
OMIM	OMIM:253200
DOID	DOID:12800
UMLS	C0026709
MeSH	D009087
SNOMED-CT	SNOMEDCT_US_2016_09_01:52677002;SNOMEDCT_US_2016_09_01:69463008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0020255 \| hydrocephalus \| 2 C0007222 \| cardiovascular disease \| 1 C0042373 \| vascular disease \| 1 C0037928 \| myelopathy \| 1 C0026265 \| mitral valve disease \| 1 C0015469 \| facial paralysis \| 1 C0026266 \| mitral valve regurgitation \| 1 C0022658 \| nephropathy \| 1 C0025289 \| meningitis \| 1 C0042373 \| vascular disorder \| 1 C0007222 \| cardiovascular disorders \| 1 C0025309 \| meningoencephalitis \| 1 C0026709 \| mps vi \| 1 C0042373 \| vascular disorders \| 1 C0017665 \| membranous nephropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 411 \| ARSB \| CLINVAR;CTD_human;GHR;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:12) 347527 \| ARSH \| 4.06 \| DISEASES 51676 \| ASB2 \| 3.638 \| DISEASES 720 \| C4A \| 2.44 \| DISEASES 5476 \| CTSA \| 1.695 \| DISEASES 2098 \| ESD \| 2.731 \| DISEASES 55763 \| EXOC1 \| 4.431 \| DISEASES 3052 \| HCCS \| 3.328 \| DISEASES 3109 \| HLA-DMB \| 2.321 \| DISEASES 3980 \| LIG3 \| 3.281 \| DISEASES 222659 \| PXT1 \| 2.951 \| DISEASES 57556 \| SEMA6A \| 3.999 \| DISEASES 51366 \| UBR5 \| 2.188 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1036
Disease	maroteaux lamy syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:19) HP:0002176 \| Spinal cord compression \| 2 HP:0000924 \| Abnormality of the skeletal system \| 2 HP:0000238 \| Nonsyndromal hydrocephalus \| 2 HP:0001653 \| Mitral valve insufficiency \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0007209 \| Facial paresis \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0011450 \| CNS infection \| 1 HP:0100814 \| Mongolian spot \| 1 HP:0002196 \| Myelopathy \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0012578 \| Membranous glomerulonephritis \| 1 HP:0010543 \| Opsoclonus \| 1 HP:0000112 \| Nephropathy \| 1 HP:0001724 \| Aortic dilatation \| 1 HP:0001287 \| Meningitis \| 1 HP:0000969 \| Dropsy \| 1 HP:0003470 \| Inability to move \| 1 HP:0001714 \| Ventricular hypertrophy \| 1

Disease ID	1036
Disease	maroteaux lamy syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:14)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1065757	14974081	411	ARSB	umls:C0026709	BeFree	The two common polymorphisms c.1072G>A [p.V358M] and c.1126G>A [p.V376M] were identified among the patients, along with the silent mutation c.1191A>G. Cultured fibroblast ARSB mutant protein and residual activity were determined for each patient, and, together with genotype information, were used to predict the expected clinical severity of each MPS VI patient.	0.537935027	2004	ARSB	5	78885654	C	T,G,A
rs1071598	14974081	411	ARSB	umls:C0026709	BeFree	The two common polymorphisms c.1072G>A [p.V358M] and c.1126G>A [p.V376M] were identified among the patients, along with the silent mutation c.1191A>G. Cultured fibroblast ARSB mutant protein and residual activity were determined for each patient, and, together with genotype information, were used to predict the expected clinical severity of each MPS VI patient.	0.537935027	2004	ARSB	5	78885600	C	T
rs118203938	1718978	411	ARSB	umls:C0026709	BeFree	Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.	0.537935027	1991	ARSB	5	78969095	C	T,A
rs118203941	NA	411	ARSB	umls:C0026709	CLINVAR	NA	0.537935027	NA	ARSB	5	78781974	C	T
rs118203942	NA	411	ARSB	umls:C0026709	CLINVAR	NA	0.537935027	NA	ARSB	5	78984965	C	T
rs118203943	NA	411	ARSB	umls:C0026709	CLINVAR	NA	0.537935027	NA	ARSB	5	78964477	T	C
rs118203943	11939792	411	ARSB	umls:C0026709	BeFree	Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.	0.537935027	2002	ARSB	5	78964477	T	C
rs118203943	21514195	411	ARSB	umls:C0026709	BeFree	Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene.	0.537935027	2011	ARSB	5	78964477	T	C
rs118203944	NA	411	ARSB	umls:C0026709	CLINVAR	NA	0.537935027	NA	ARSB	5	78839391	T	G
rs201101343	NA	411	ARSB	umls:C0026709	CLINVAR	NA	0.537935027	NA	ARSB	5	78780549	T	C
rs201101343	14974081	411	ARSB	umls:C0026709	UNIPROT	The two common polymorphisms c.1072G>A [p.V358M] and c.1126G>A [p.V376M] were identified among the patients, along with the silent mutation c.1191A>G. Cultured fibroblast ARSB mutant protein and residual activity were determined for each patient, and, together with genotype information, were used to predict the expected clinical severity of each MPS VI patient.	0.537935027	2004	ARSB	5	78780549	T	C
rs25414	14974081	411	ARSB	umls:C0026709	UNIPROT	The two common polymorphisms c.1072G>A [p.V358M] and c.1126G>A [p.V376M] were identified among the patients, along with the silent mutation c.1191A>G. Cultured fibroblast ARSB mutant protein and residual activity were determined for each patient, and, together with genotype information, were used to predict the expected clinical severity of each MPS VI patient.	0.537935027	2004	ARSB	5	78839418	C	T
rs431905495	NA	411	ARSB	umls:C0026709	CLINVAR	NA	0.537935027	NA	ARSB	5	78839427	C	G
rs431905496	NA	411	ARSB	umls:C0026709	CLINVAR	NA	0.537935027	NA	ARSB	5	78839434	A	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1036
Disease	maroteaux lamy syndrome
Case	(Waiting for update.)

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