ORPHA:276223

Mucopolysaccharidosis type 6, slowly progressing

Synonyms: Arylsulfatase B deficiency, slowly progressing · MPS6, slowly progressing · MPSVI, slowly progressing · Mucopolysaccharidosis type VI, slowly progressing

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Status: active

This disease is described under Mucopolysaccharidosis type 6

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Mucopolysaccharidosis type 6, slowly progressing	Arylsulfatase B deficiency, slowly progressing · MPS6, slowly progressing · MPSVI, slowly progressing · Mucopolysaccharidosis type VI, slowly progressing
fr	Mucopolysaccharidose type 6, forme lentement progressive	Déficit en arylsulfatase B, forme lentement progressive · MPS6, forme lentement progressive · MPSVI, forme lentement progressive · Mucopolysaccharidose type VI, forme lentement progressive
de	Mukopolysaccharidose Typ 6, langsam fortschreitend	Langsam fortschreitende Mukopolysaccharidose Typ VI · Langsam fortschreitender Arylsulfatase B-Mangel · MPS6, langsam fortschreitend · MPSVI, langsam fortschreitend
es	Mucopolisacaridosis tipo 6 de progresión lenta	Deficiencia de arilsulfatasa B de progresión lenta · MPS6 de progresión lenta · MPSVI de progresión lenta · Mucopolisacaridosis tipo VI de progresión lenta
it	Mucopolisaccaridosi tipo 6, a progressione lenta	Deficit di arilsulfatasi B, a progressione lenta · MPS6 a progressione lenta · MPSVI a progressione lenta · Mucopolisaccaridosi tipo VI, a progressione lenta
nl	Mucopolysacharidose type 6, traag progressief	Arylsulfatase B-deficiëntie, traag progressief · MPS6, traag progressief · MPSVI, traag progressief · Mucopolysacharidose type VI, traag progressief
pt	Mucopolissacaridose tipo 6 de progressão lenta
pl	Mukopolisacharydoza typu 6, wolno postępująca	MPS6, wolno postępująca · MPSVI, wolno postępująca · Mukopolisacharydoza typu VI, wolno postępująca · Niedobór arylosulfatzy B, wolno postępujący
cs	Mukopolysacharidóza, typ 6, pomalu progredující	Deficit arylsulfatázy B, pomalu progredující · MPS6, pomalu progredující · MPSVI, pomalu progredující · Mukopolysacharidóza, typ VI, pomalu progredující
uk	Мукополісахаридоз, тип 6, повільно прогресуючий	Дефіцит арилсульфатази В, повільно прогресуючий · MPS6, повільно прогресує · MPSVI, повільно прогресує · Мукополісахаридоз VI типу, повільно прогресуючий
zh	粘多糖贮积症6型，进展缓慢	进展缓慢的黏多糖贮积症VI型
tr	Mukopolisakkaridoz tip 6, yavaş ilerleyen	MPS6, yavaş ilerleyen · MPSVI, yavaş ilerleyen · Arilsülfataz B eksikliği, yavaş ilerleyen · Mukopolisakkaridoz tip VI, yavaş ilerleyen

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	253200	NTBT		validated
ICD-10	E76.2	NTBT	attributed	validated
ICD-11	5C56.33	NTBT	attributed	validated
MONDO	0017172	E		validated
UMLS	C5679780	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (1):

ORPHA:583Mucopolysaccharidosis type 6
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders; rare bone diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ARSB	Disease-causing germline mutation(s) in	Assessed	HGNC:714	ENSG00000113273	611542	5q14.1	arylsulfatase B

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/276223
This record as JSON: /data/d/276223.json