Mucopolysaccharidosis, Type Ix; Mps9

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Mucopolysaccharidosis, Type Ix; Mps9

HYAL1

View recommended genes panels

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.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (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.

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 Panel complete gene list SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS, CTSC, CTSD, CTSK, HGSNAT, MFSD8, DHCR7, GNPTAB, ATP13A2, AGA, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNS, GPC3, GUSB, HEXA, HEXB, HRAS, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, ARSA, KMT2D, ARSB, ASAH1, NAGA, NAGLU, NEU1, NPC1, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PHYH, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5, RAI1 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 Panel complete gene list SGSH, SLC17A5, SMPD1, MCOLN1, NPC2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, GNPTG, CTNS, CTSD, CTSK, HGSNAT, MFSD8, GNPTAB, AGA, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNS, GRN, GUSB, HEXA, HEXB, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, ARSA, ARSB, ASAH1, NAGA, NAGLU, NEU1, NPC1, CTSA, PPT1, PSAP 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 Panel complete gene list SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST, CLCN7, VIPAS39, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, BLOC1S3, VMA21, PEX26, GNPTG, LMBRD1, MFF, CTNS, CTSD, CTSF, CTSK, FAR1, HGSNAT, MFSD8, DNASE1, GNPTAB, DNM1L, LAMTOR2, ATP13A2, ECM1, AGA, EHHADH, AGPS, AGXT, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GNPAT, AMACR, GRN, GUSB, HEXA, HPS1, HSD17B4, HYAL1, IDH1, IDS, IDUA, IGF2R, AP3B1, LAMP2, LIPA, ABCD3, ABCD4, MAN2B1, MANBA, ARSA, ARSB, ASAH1, TRIM37, NAGA, NAGLU, NEU1, NPC1, ATP6V1B1, ATP6V1B2, ATP6V0A4, ATP6AP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PMVK, PPARG, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5 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 Panel complete gene list SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST, CLCN7, VIPAS39, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, BLOC1S3, VMA21, PEX26, GNPTG, LMBRD1, MFF, CTNS, CTSD, CTSF, CTSK, FAR1, HGSNAT, MFSD8, DNASE1, GNPTAB, DNM1L, LAMTOR2, ATP13A2, ECM1, AGA, EHHADH, AGPS, AGXT, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GNPAT, AMACR, GRN, GUSB, HEXA, HPS1, HSD17B4, HYAL1, IDH1, IDS, IDUA, IGF2R, AP3B1, LAMP2, LIPA, ABCD3, ABCD4, MAN2B1, MANBA, ARSA, ARSB, ASAH1, TRIM37, NAGA, NAGLU, NEU1, NPC1, ATP6V1B1, ATP6V1B2, ATP6V0A4, ATP6AP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PMVK, PPARG, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5 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 %

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Sources and references

You can check the following sources for additional information.

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