Mucopolysaccharidosis, Type Ix; Mps9

Clinical Features

Top most frequent phenotypes and symptoms related to Mucopolysaccharidosis, Type Ix; Mps9

  • Short stature
  • Scoliosis
  • Cleft palate
  • Pain
  • Depressed nasal bridge
  • Kyphosis
  • Bifid uvula
  • Abnormality of the skin
  • Otitis media
  • Recurrent otitis media

And another 5 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 Ix; Mps9 Is also known as hyaluronidase deficiency, mps ix.

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 Ix; Mps9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
Mucopolysaccharidosis type IX (sequence analysis of HYAL1 gene).

By CGC Genetics (Portugal).

HYAL1
Specificity
100 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Mucopolysaccharidosis Type IX via HYAL1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

HYAL1
Specificity
100 %
Genes
100 %
Mucopolysaccharidosis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SGSH, MCOLN1, GNPTG, HGSNAT, GNPTAB, GALNS, GLB1, GNS, GUSB, HYAL1, IDS, IDUA, ARSB, NAGLU
Specificity
8 %
Genes
100 %
Mucopolysaccharidosis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SGSH, MCOLN1, GNPTG, HGSNAT, GNPTAB, GALNS, GLB1, GNS, GUSB, HYAL1, IDS, IDUA, ARSB, NAGLU
Specificity
8 %
Genes
100 %

We have 21 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

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like YOU-HOOVER-FONG SYNDROME; YHFS HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1 HYPEREKPLEXIA, HEREDITARY 1; HKPX1 PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE; PPKN

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