MCID: MCP051
MIFTS: 36

Mucopolysaccharidosis, Type Ix

Categories: Genetic diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Respiratory diseases, Blood diseases

Aliases & Classifications for Mucopolysaccharidosis, Type Ix

MalaCards integrated aliases for Mucopolysaccharidosis, Type Ix:

Name: Mucopolysaccharidosis, Type Ix 57
Mucopolysaccharidosis Type Ix 57 59 75 37 13
Hyaluronidase Deficiency 57 59 75 73
Mps9 57 59 75
Mucopolysaccharidosis Ix 12 15
Mps Ix 57 75
Mucopolysaccharidosis Type 9 59
Mucopolysaccharidosis 9 75
Mpsix 59

Characteristics:

Orphanet epidemiological data:

59
hyaluronidase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
mucopolysaccharidosis, type ix:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601492
Disease Ontology 12 DOID:0050809
Orphanet 59 ORPHA67041
UMLS via Orphanet 74 C1291490
ICD10 via Orphanet 34 E76.2
MedGen 42 C1291490
MeSH 44 D009083
KEGG 37 H00133
UMLS 73 C1291490

Summaries for Mucopolysaccharidosis, Type Ix

UniProtKB/Swiss-Prot : 75 Mucopolysaccharidosis 9: A lysosomal storage disease characterized by high hyaluronan concentration in the serum. The clinical features are periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement.

MalaCards based summary : Mucopolysaccharidosis, Type Ix, also known as mucopolysaccharidosis type ix, is related to natowicz syndrome and arthritis. An important gene associated with Mucopolysaccharidosis, Type Ix is HYAL1 (Hyaluronoglucosaminidase 1), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. Affiliated tissues include skin and bone, and related phenotypes are short stature and abnormality of the acetabulum

Disease Ontology : 12 A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.

Description from OMIM: 601492

Related Diseases for Mucopolysaccharidosis, Type Ix

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Ix

Symptoms via clinical synopsis from OMIM:

57
Growth:
short stature

Nose:
flat nasal bridge

Skin:
generalized cutaneous swelling

Lab:
hyaluronidase deficiency
elevated plasma hyaluronan

Mouth:
bifid uvula
submucosal cleft palate

Joints:
popliteal cyst
multiple periarticular soft-tissue masses
joint effusion
acetabular erosions

Misc:
frequent episodes of otitis media


Clinical features from OMIM:

601492

Human phenotypes related to Mucopolysaccharidosis, Type Ix:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of the acetabulum 59 32 hallmark (90%) Very frequent (99-80%) HP:0003170
3 depressed nasal bridge 32 HP:0005280
4 recurrent otitis media 32 HP:0000403
5 bifid uvula 32 HP:0000193
6 abnormality of the skin 32 HP:0000951
7 submucous cleft hard palate 32 HP:0000176
8 heparan sulfate excretion in urine 32 HP:0002159
9 keratan sulfate excretion in urine 32 HP:0012069

Drugs & Therapeutics for Mucopolysaccharidosis, Type Ix

Search Clinical Trials , NIH Clinical Center for Mucopolysaccharidosis, Type Ix

Genetic Tests for Mucopolysaccharidosis, Type Ix

Anatomical Context for Mucopolysaccharidosis, Type Ix

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Ix:

41
Skin, Bone

Publications for Mucopolysaccharidosis, Type Ix

Articles related to Mucopolysaccharidosis, Type Ix:

# Title Authors Year
1
Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis. ( 26122630 )
2015

Variations for Mucopolysaccharidosis, Type Ix

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis, Type Ix:

75
# Symbol AA change Variation ID SNP ID
1 HYAL1 p.Glu268Lys VAR_023643 rs104893743

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Ix:

6
(show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 HYAL1 NM_153281.1(HYAL1): c.802G> A (p.Glu268Lys) single nucleotide variant Pathogenic rs104893743 GRCh37 Chromosome 3, 50339586: 50339586
2 HYAL1 NM_153281.1(HYAL1): c.802G> A (p.Glu268Lys) single nucleotide variant Pathogenic rs104893743 GRCh38 Chromosome 3, 50302155: 50302155
3 HYAL1 NM_153281.1(HYAL1): c.751_787del37insTTCCGTGTGGCCCG (p.Val251Phefs) indel Pathogenic GRCh37 Chromosome 3, 50339601: 50339637
4 HYAL1 NM_153281.1(HYAL1): c.751_787del37insTTCCGTGTGGCCCG (p.Val251Phefs) indel Pathogenic GRCh38 Chromosome 3, 50302170: 50302206
5 HYAL1 NM_153281.1(HYAL1): c.*434C> T single nucleotide variant Uncertain significance rs182987423 GRCh38 Chromosome 3, 50300049: 50300049
6 HYAL1 NM_153281.1(HYAL1): c.*434C> T single nucleotide variant Uncertain significance rs182987423 GRCh37 Chromosome 3, 50337480: 50337480
7 HYAL1 NM_153281.1(HYAL1): c.1292G> A (p.Arg431Gln) single nucleotide variant Uncertain significance rs368957453 GRCh38 Chromosome 3, 50300499: 50300499
8 HYAL1 NM_153281.1(HYAL1): c.1292G> A (p.Arg431Gln) single nucleotide variant Uncertain significance rs368957453 GRCh37 Chromosome 3, 50337930: 50337930
9 HYAL1 NM_153281.1(HYAL1): c.1175C> T (p.Thr392Met) single nucleotide variant Likely benign rs117179004 GRCh38 Chromosome 3, 50300616: 50300616
10 HYAL1 NM_153281.1(HYAL1): c.1175C> T (p.Thr392Met) single nucleotide variant Likely benign rs117179004 GRCh37 Chromosome 3, 50338047: 50338047
11 HYAL1 NM_153281.1(HYAL1): c.766G> A (p.Gly256Arg) single nucleotide variant Likely benign rs116482870 GRCh38 Chromosome 3, 50302191: 50302191
12 HYAL1 NM_153281.1(HYAL1): c.766G> A (p.Gly256Arg) single nucleotide variant Likely benign rs116482870 GRCh37 Chromosome 3, 50339622: 50339622
13 HYAL1 NM_153281.1(HYAL1): c.384C> T (p.Ile128=) single nucleotide variant Likely benign rs116097974 GRCh38 Chromosome 3, 50302573: 50302573
14 HYAL1 NM_153281.1(HYAL1): c.384C> T (p.Ile128=) single nucleotide variant Likely benign rs116097974 GRCh37 Chromosome 3, 50340004: 50340004
15 HYAL1 NM_153281.1(HYAL1): c.-191+15A> G single nucleotide variant Uncertain significance rs886058695 GRCh37 Chromosome 3, 50347075: 50347075
16 HYAL1 NM_153281.1(HYAL1): c.-191+15A> G single nucleotide variant Uncertain significance rs886058695 GRCh38 Chromosome 3, 50309644: 50309644
17 HYAL1 NM_153281.1(HYAL1): c.-241C> A single nucleotide variant Uncertain significance rs12631938 GRCh38 Chromosome 3, 50309709: 50309709
18 HYAL1 NM_153281.1(HYAL1): c.-241C> A single nucleotide variant Uncertain significance rs12631938 GRCh37 Chromosome 3, 50347140: 50347140
19 HYAL1 NM_153281.1(HYAL1): c.-272C> T single nucleotide variant Uncertain significance rs139571382 GRCh38 Chromosome 3, 50309740: 50309740
20 HYAL1 NM_153281.1(HYAL1): c.-272C> T single nucleotide variant Uncertain significance rs139571382 GRCh37 Chromosome 3, 50347171: 50347171
21 HYAL1 NM_153281.1(HYAL1): c.-320_-319delCT deletion Uncertain significance rs782640837 GRCh38 Chromosome 3, 50312273: 50312274
22 HYAL1 NM_153281.1(HYAL1): c.-320_-319delCT deletion Uncertain significance rs782640837 GRCh37 Chromosome 3, 50349704: 50349705
23 HYAL1 NM_153281.1(HYAL1): c.-384G> A single nucleotide variant Uncertain significance rs886058698 GRCh38 Chromosome 3, 50312338: 50312338
24 HYAL1 NM_153281.1(HYAL1): c.-384G> A single nucleotide variant Uncertain significance rs886058698 GRCh37 Chromosome 3, 50349769: 50349769
25 HYAL1 NM_153281.1(HYAL1): c.*492C> T single nucleotide variant Likely benign rs1283 GRCh38 Chromosome 3, 50299991: 50299991
26 HYAL1 NM_153281.1(HYAL1): c.*492C> T single nucleotide variant Likely benign rs1283 GRCh37 Chromosome 3, 50337422: 50337422
27 HYAL1 NM_153281.1(HYAL1): c.846G> A (p.Pro282=) single nucleotide variant Uncertain significance rs782094366 GRCh37 Chromosome 3, 50339542: 50339542
28 HYAL1 NM_153281.1(HYAL1): c.846G> A (p.Pro282=) single nucleotide variant Uncertain significance rs782094366 GRCh38 Chromosome 3, 50302111: 50302111
29 HYAL1 NM_153281.1(HYAL1): c.-5G> A single nucleotide variant Uncertain significance rs368638384 GRCh37 Chromosome 3, 50340392: 50340392
30 HYAL1 NM_153281.1(HYAL1): c.-5G> A single nucleotide variant Uncertain significance rs368638384 GRCh38 Chromosome 3, 50302961: 50302961
31 HYAL1 NM_153281.1(HYAL1): c.-414G> A single nucleotide variant Uncertain significance rs587609136 GRCh38 Chromosome 3, 50312368: 50312368
32 HYAL1 NM_153281.1(HYAL1): c.-414G> A single nucleotide variant Uncertain significance rs587609136 GRCh37 Chromosome 3, 50349799: 50349799
33 HYAL1 NM_153281.1(HYAL1): c.*459G> A single nucleotide variant Uncertain significance rs150976767 GRCh38 Chromosome 3, 50300024: 50300024
34 HYAL1 NM_153281.1(HYAL1): c.*459G> A single nucleotide variant Uncertain significance rs150976767 GRCh37 Chromosome 3, 50337455: 50337455
35 HYAL1 NM_153281.1(HYAL1): c.*173T> C single nucleotide variant Uncertain significance rs184872974 GRCh38 Chromosome 3, 50300310: 50300310
36 HYAL1 NM_153281.1(HYAL1): c.*173T> C single nucleotide variant Uncertain significance rs184872974 GRCh37 Chromosome 3, 50337741: 50337741
37 HYAL1 NM_153281.1(HYAL1): c.1277C> G (p.Ala426Gly) single nucleotide variant Uncertain significance rs142342237 GRCh38 Chromosome 3, 50300514: 50300514
38 HYAL1 NM_153281.1(HYAL1): c.1277C> G (p.Ala426Gly) single nucleotide variant Uncertain significance rs142342237 GRCh37 Chromosome 3, 50337945: 50337945
39 HYAL1 NM_153281.1(HYAL1): c.630T> C (p.Tyr210=) single nucleotide variant Uncertain significance rs781838448 GRCh38 Chromosome 3, 50302327: 50302327
40 HYAL1 NM_153281.1(HYAL1): c.630T> C (p.Tyr210=) single nucleotide variant Uncertain significance rs781838448 GRCh37 Chromosome 3, 50339758: 50339758
41 HYAL1 NM_153281.1(HYAL1): c.-89G> A single nucleotide variant Uncertain significance rs141540659 GRCh37 Chromosome 3, 50341283: 50341283
42 HYAL1 NM_153281.1(HYAL1): c.-89G> A single nucleotide variant Uncertain significance rs141540659 GRCh38 Chromosome 3, 50303852: 50303852
43 HYAL1 NM_153281.1(HYAL1): c.-240A> G single nucleotide variant Uncertain significance rs12634784 GRCh38 Chromosome 3, 50309708: 50309708
44 HYAL1 NM_153281.1(HYAL1): c.-240A> G single nucleotide variant Uncertain significance rs12634784 GRCh37 Chromosome 3, 50347139: 50347139
45 HYAL1 NM_153281.1(HYAL1): c.-310+12dupC duplication Uncertain significance rs886058696 GRCh38 Chromosome 3, 50312252: 50312252
46 HYAL1 NM_153281.1(HYAL1): c.-310+12dupC duplication Uncertain significance rs886058696 GRCh37 Chromosome 3, 50349683: 50349683
47 HYAL1 NM_153281.1(HYAL1): c.*221T> C single nucleotide variant Uncertain significance rs192692460 GRCh38 Chromosome 3, 50300262: 50300262
48 HYAL1 NM_153281.1(HYAL1): c.*221T> C single nucleotide variant Uncertain significance rs192692460 GRCh37 Chromosome 3, 50337693: 50337693
49 HYAL1 NM_153281.1(HYAL1): c.270G> C (p.Glu90Asp) single nucleotide variant Likely benign rs74342080 GRCh37 Chromosome 3, 50340118: 50340118
50 HYAL1 NM_153281.1(HYAL1): c.270G> C (p.Glu90Asp) single nucleotide variant Likely benign rs74342080 GRCh38 Chromosome 3, 50302687: 50302687

Expression for Mucopolysaccharidosis, Type Ix

Search GEO for disease gene expression data for Mucopolysaccharidosis, Type Ix.

Pathways for Mucopolysaccharidosis, Type Ix

Pathways related to Mucopolysaccharidosis, Type Ix according to KEGG:

37
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

GO Terms for Mucopolysaccharidosis, Type Ix

Cellular components related to Mucopolysaccharidosis, Type Ix according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anchored component of membrane GO:0031225 9.16 HYAL2 SPAM1
2 cytoplasmic vesicle GO:0031410 9.13 HYAL1 HYAL2 HYAL3
3 lysosome GO:0005764 8.8 HYAL1 HYAL2 HYAL3

Biological processes related to Mucopolysaccharidosis, Type Ix according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.8 HYAL1 HYAL2 HYAL3 SPAM1
2 carbohydrate metabolic process GO:0005975 9.67 HYAL1 HYAL2 HYAL3 SPAM1
3 response to virus GO:0009615 9.65 HYAL1 HYAL2 HYAL3
4 cartilage development GO:0051216 9.61 HYAL1 HYAL2 HYAL3
5 negative regulation of cell growth GO:0030308 9.58 HYAL1 HYAL2
6 kidney development GO:0001822 9.57 HAS2 HYAL2
7 cellular response to fibroblast growth factor stimulus GO:0044344 9.56 HYAL1 HYAL2
8 cellular response to tumor necrosis factor GO:0071356 9.56 HAS2 HYAL1 HYAL2 HYAL3
9 cellular response to platelet-derived growth factor stimulus GO:0036120 9.55 HAS2 HYAL1
10 positive regulation of urine volume GO:0035810 9.54 HAS2 HYAL2
11 response to reactive oxygen species GO:0000302 9.52 HYAL1 HYAL2
12 hyaluronan metabolic process GO:0030212 9.51 HAS2 HYAL1
13 response to antibiotic GO:0046677 9.5 HYAL1 HYAL2 HYAL3
14 hyaluronan biosynthetic process GO:0030213 9.46 HAS2 HYAL1
15 renal water absorption GO:0070295 9.4 HAS2 HYAL2
16 hyaluronan catabolic process GO:0030214 9.33 HYAL1 HYAL2 HYAL3
17 cellular response to interleukin-1 GO:0071347 9.26 HAS2 HYAL1 HYAL2 HYAL3
18 cellular response to UV-B GO:0071493 8.8 HYAL1 HYAL2 HYAL3

Molecular functions related to Mucopolysaccharidosis, Type Ix according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.71 HYAL1 HYAL2 HYAL3 SPAM1
2 catalytic activity GO:0003824 9.54 HYAL1 HYAL2 HYAL3
3 virus receptor activity GO:0001618 9.5 HYAL1 HYAL2 HYAL3
4 hyaluronan synthase activity GO:0050501 9.26 HAS2 HYAL1
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 HYAL1 HYAL2 HYAL3 SPAM1
6 hyaluronoglucuronidase activity GO:0033906 9.16 HYAL2 HYAL3
7 hyalurononglucosaminidase activity GO:0004415 8.92 HYAL1 HYAL2 HYAL3 SPAM1

Sources for Mucopolysaccharidosis, Type Ix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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