Mucopolysaccharidosis, Type Vi; Mps6

Description

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

Clinical Features

Top most frequent phenotypes and symptoms related to Mucopolysaccharidosis, Type Vi; Mps6

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture
  • Depressed nasal bridge
  • Hepatomegaly
  • Macrocephaly
  • Abnormality of the skeletal system
  • Respiratory distress

And another 63 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Mucopolysaccharidosis, Type Vi; Mps6 Is also known as maroteaux-lamy syndrome, mps vi, n-acetylgalactosamine-4-sulfatase deficiency, arsb deficiency, arylsulfatase b deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Mucopolysaccharidosis, Type Vi; Mps6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ARSB Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ARSB
Specificity
100 %
Genes
100 %
ARSB Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ARSB
Specificity
100 %
Genes
100 %
ARSB Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ARSB
Specificity
100 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Maroteaux-Lamy syndrome.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

ARSB
Specificity
100 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SGSH, SLC17A5, SMPD1, MCOLN1, NPC2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, GNPTG, CTNS, CTSD, CTSK, HGSNAT, MFSD8, GNPTAB, AGA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
ARSB Gene Sequencing.

By GeneDx (United States).

ARSB
Specificity
100 %
Genes
100 %

We have 48 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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