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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mucopolysaccharidoses (D009083)
..Starting node ..Mucopolysaccharidosis VI (D009087)
Child Nodes:
Sister Nodes:
..Hyaluronidase Deficiency (C563209)
..Mucopolysaccharidoses, Unclassified Types (C562442)
..Mucopolysaccharidosis I (D008059)
..Mucopolysaccharidosis II (D016532)
..Mucopolysaccharidosis III (D009084)
..Mucopolysaccharidosis IV (D009085) 1
..Mucopolysaccharidosis Type VIII (C563094)
..Mucopolysaccharidosis VI (D009087)
..Mucopolysaccharidosis VII (D016538)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7436

Name:

Mucopolysaccharidosis VI

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).

Alternative IDs:

OMIM:253200

ParentIDs:

MESH:D009083

TreeNumbers:

C16.320.565.202.715.670 |C16.320.565.595.600.670 |C17.300.550.575.670 |C18.452.648.202.715.670 |C18.452.648.595.600.670

Synonyms:

Slim Mappings:

Connective tissue disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: D009087
MeSH: D009087
OMIM: 253200;

Genes: ARSB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001654	Abnormal heart valve morphology
3	HP:0008432	Anterior wedging of L1
4	HP:0011941	Anterior wedging of L2
5	HP:0000885	Broad ribs
6	HP:0001638	Cardiomyopathy
7	HP:0002318	Cervical myelopathy
8	HP:0000280	Coarse facial features
9	HP:0012185	Constrictive median neuropathy
10	HP:0005280	Depressed nasal bridge
11	HP:0008301	Dermatan sulfate excretion in urine
12	HP:0003521	Disproportionate short-trunk short stature
13	HP:0000268	Dolichocephaly
14	HP:0000943	Dysostosis multiplex
15	HP:0002656	Epiphyseal dysplasia
16	HP:0002869	Flared iliac wing
17	HP:0002857	Genu valgum
18	HP:0000501	Glaucoma
19	HP:0000365	Hearing impairment
20	HP:0002240	Hepatomegaly
21	HP:0001385	Hip dysplasia
22	HP:0001007	Hirsutism
23	HP:0000238	Hydrocephalus
24	HP:0003311	Hypoplasia of the odontoid process
25	HP:0003274	Hypoplastic acetabulae
26	HP:0002866	Hypoplastic iliac wing
27	HP:0000023	Inguinal hernia
28	HP:0001387	Joint stiffness
29	HP:0002938	Lumbar hyperlordosis
30	HP:0000256	Macrocephaly
31	HP:0000158	Macroglossia
32	HP:0003025	Metaphyseal irregularity
33	HP:0003016	Metaphyseal widening
34	HP:0007759	Opacification of the corneal stroma
35	HP:0003300	Ovoid vertebral bodies
36	HP:0000884	Prominent sternum
37	HP:0002788	Recurrent upper respiratory tract infections
38	HP:0001744	Splenomegaly
39	HP:0001171	Split hand
40	HP:0001537	Umbilical hernia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000046.3(ARSB):c.1450A>G (p.Arg484Gly)	411	ARSB	Likely pathogenic	201101343	RCV000169649;	N	MedGen:C0026709,OMIM:253200,ORPHA:583	5	78076372	78076372	NM_000046.3:c.1450A>G	NP_000037.2:p.Arg484Gly	NC_000005.9:g.78076372T>C	-	C0026709 253200 Mucopolysaccharidosis type VI
NM_000046.3(ARSB):c.1214G>A (p.Cys405Tyr)	411	ARSB	Pathogenic	118203941	RCV000000928; RCV000179701;	N	MedGen:C0026709,OMIM:253200,ORPHA:583; MedGen:CN068452	5	78077797	78077797	NM_000046.3:c.1214G>A	NP_000037.2:p.Cys405Tyr	NC_000005.9:g.78077797C>T	OMIM Allelic Variant:611542.0004	C0026709 253200 Mucopolysaccharidosis type VI; CN068452 Mucopolysaccharidosis, type vi, severe
NM_000046.3(ARSB):c.1178A>C (p.His393Pro)	411	ARSB	Pathogenic	118203944	RCV000000934;	N	MedGen:C0026709,OMIM:253200,ORPHA:583	5	78135214	78135214	NM_000046.3:c.1178A>C	NP_000037.2:p.His393Pro	NC_000005.9:g.78135214T>G	OMIM Allelic Variant:611542.0010	C0026709 253200 Mucopolysaccharidosis type VI
NM_000046.3(ARSB):c.1143-1G>C	411	ARSB	Pathogenic	431905495	RCV000000935;	N	MedGen:C0026709,OMIM:253200,ORPHA:583	5	78135250	78135250	NM_000046.3:c.1143-1G>C		NC_000005.9:g.78135250C>G	OMIM Allelic Variant:611542.0011	C0026709 253200 Mucopolysaccharidosis type VI
NM_000046.3(ARSB):c.1143-8T>G	411	ARSB	Pathogenic	431905496	RCV000000936;	N	MedGen:C0026709,OMIM:253200,ORPHA:583	5	78135257	78135257	NM_000046.3:c.1143-8T>G		NC_000005.9:g.78135257A>C	OMIM Allelic Variant:611542.0012	C0026709 253200 Mucopolysaccharidosis type VI
NM_000046.3(ARSB):c.629A>G (p.Tyr210Cys)	411	ARSB	Pathogenic	118203943	RCV000000933; RCV000078003;	N	MedGen:C0026709,OMIM:253200,ORPHA:583; MedGen:CN221809	5	78260300	78260300	NM_000046.3:c.629A>G	NP_000037.2:p.Tyr210Cys	NC_000005.9:g.78260300T>C	HGMD:CM960081,OMIM Allelic Variant:611542.0009	C0026709 253200 Mucopolysaccharidosis type VI; CN221809 not provided
NM_000046.3(ARSB):c.284G>A (p.Arg95Gln)	411	ARSB	Pathogenic	118203942	RCV000000932; RCV000078002;	N	MedGen:C0026709,OMIM:253200,ORPHA:583; MedGen:CN221809	5	78280788	78280788	NM_000046.3:c.284G>A	NP_000037.2:p.Arg95Gln	NC_000005.9:g.78280788C>T	HGMD:CM960080,OMIM Allelic Variant:611542.0008	C0026709 253200 Mucopolysaccharidosis type VI; CN221809 not provided