MPS9
MCID: MCP051
MIFTS: 39

Mucopolysaccharidosis, Type Ix (MPS9)

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

Aliases & Classifications for Mucopolysaccharidosis, Type Ix

MalaCards integrated aliases for Mucopolysaccharidosis, Type Ix:

Name: Mucopolysaccharidosis, Type Ix 57
Mucopolysaccharidosis Type Ix 57 58 72 36 13
Hyaluronidase Deficiency 57 58 72 70
Mps Ix 57 72 6
Mps9 57 58 72
Mucopolysaccharidosis Ix 12 15
Mucopolysaccharidosis Type 9 58
Mucopolysaccharidosis 9 72
Mpsix 58

Characteristics:

Orphanet epidemiological data:

58
hyaluronidase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
mucopolysaccharidosis, type ix:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050809
OMIM® 57 601492
OMIM Phenotypic Series 57 PS607014
KEGG 36 H00133
MeSH 44 D009083
ICD10 via Orphanet 33 E76.2
UMLS via Orphanet 71 C1291490
Orphanet 58 ORPHA67041
MedGen 41 C1291490
UMLS 70 C1291490

Summaries for Mucopolysaccharidosis, Type Ix

UniProtKB/Swiss-Prot : 72 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 mucopolysaccharidosis-plus syndrome and lysosomal storage disease. An important gene associated with Mucopolysaccharidosis, Type Ix is HYAL1 (Hyaluronidase 1), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. Affiliated tissues include eye, and related phenotypes are short stature and abnormality of the acetabulum

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

KEGG : 36 Mucopolysaccharidosis type IX (MPS9) is a very rare autosomal recessive lysosomal storage disorder caused by deficient activity of lysosomal hyaluronidase.

Wikipedia : 73 Hyaluronidase deficiency is a condition caused by mutations in HYAL1, and characterized by multiple... more...

More information from OMIM: 601492 PS607014

Related Diseases for Mucopolysaccharidosis, Type Ix

Graphical network of the top 20 diseases related to Mucopolysaccharidosis, Type Ix:



Diseases related to Mucopolysaccharidosis, Type Ix

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Ix

Human phenotypes related to Mucopolysaccharidosis, Type Ix:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of the acetabulum 58 31 hallmark (90%) Very frequent (99-80%) HP:0003170
3 depressed nasal bridge 31 HP:0005280
4 recurrent otitis media 31 HP:0000403
5 bifid uvula 31 HP:0000193
6 abnormality of the skin 31 HP:0000951
7 submucous cleft hard palate 31 HP:0000176
8 heparan sulfate excretion in urine 31 HP:0002159
9 keratan sulfate excretion in urine 31 HP:0012069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Eye

Publications for Mucopolysaccharidosis, Type Ix

Articles related to Mucopolysaccharidosis, Type Ix:

# Title Authors PMID Year
1
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. 57 6
10339581 1999
2
Clinical and biochemical manifestations of hyaluronidase deficiency. 6 57
8793927 1996
3
Spectrum of common and uncommon causes of knee joint hyaline cartilage degeneration and their key imaging features. 61
32534353 2020
4
Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis. 61
26122630 2016

Variations for Mucopolysaccharidosis, Type Ix

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Ix:

6 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HYAL1 NM_033159.4(HYAL1):c.751_787delinsTTCCGTGTGGCCCG (p.Val251fs) Indel Pathogenic 3531 rs1553713075 GRCh37: 3:50339601-50339637
GRCh38: 3:50302170-50302206
2 HYAL1 NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter) SNV Pathogenic 643652 rs1575517577 GRCh37: 3:50340255-50340255
GRCh38: 3:50302824-50302824
3 HYAL1 NC_000003.11:g.(?_50339478)_(50341042_?)del Deletion Pathogenic 830555 GRCh37: 3:50339478-50341042
GRCh38:
4 HYAL1 NM_033159.4(HYAL1):c.441C>G (p.Tyr147Ter) SNV Pathogenic 941180 GRCh37: 3:50339947-50339947
GRCh38: 3:50302516-50302516
5 HYAL1 NM_033159.4(HYAL1):c.44del (p.Leu15fs) Deletion Pathogenic 951930 GRCh37: 3:50340344-50340344
GRCh38: 3:50302913-50302913
6 HYAL1 NM_033159.4(HYAL1):c.773C>G (p.Ser258Ter) SNV Pathogenic 955013 GRCh37: 3:50339615-50339615
GRCh38: 3:50302184-50302184
7 HYAL1 NM_033159.4(HYAL1):c.621C>A (p.Cys207Ter) SNV Pathogenic 963698 GRCh37: 3:50339767-50339767
GRCh38: 3:50302336-50302336
8 HYAL1 NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) SNV Conflicting interpretations of pathogenicity 741222 rs377105091 GRCh37: 3:50338181-50338181
GRCh38: 3:50300750-50300750
9 HYAL1 NM_033159.4(HYAL1):c.853C>T (p.Pro285Ser) SNV Uncertain significance 841922 GRCh37: 3:50339535-50339535
GRCh38: 3:50302104-50302104
10 HYAL1 NM_033159.4(HYAL1):c.*333C>G SNV Uncertain significance 899843 GRCh37: 3:50337581-50337581
GRCh38: 3:50300150-50300150
11 HYAL1 NM_033159.4(HYAL1):c.*106G>C SNV Uncertain significance 899844 GRCh37: 3:50337808-50337808
GRCh38: 3:50300377-50300377
12 HYAL1 NM_153281.1(HYAL1):c.-384G>A SNV Uncertain significance 346100 rs886058698 GRCh37: 3:50349769-50349769
GRCh38: 3:50312338-50312338
13 HYAL1 NM_153281.1(HYAL1):c.-89G>A SNV Uncertain significance 346091 rs141540659 GRCh37: 3:50341283-50341283
GRCh38: 3:50303852-50303852
14 HYAL1 NM_153281.1(HYAL1):c.-191+15A>G SNV Uncertain significance 346094 rs886058695 GRCh37: 3:50347075-50347075
GRCh38: 3:50309644-50309644
15 HYAL1 NM_153281.1(HYAL1):c.-90C>T SNV Uncertain significance 346092 rs886058694 GRCh37: 3:50341284-50341284
GRCh38: 3:50303853-50303853
16 HYAL1 NM_033159.4(HYAL1):c.*459G>A SNV Uncertain significance 346078 rs150976767 GRCh37: 3:50337455-50337455
GRCh38: 3:50300024-50300024
17 HYAL1 NM_153281.1(HYAL1):c.-310+9dup Duplication Uncertain significance 346098 rs886058696 GRCh37: 3:50349682-50349683
GRCh38: 3:50312251-50312252
18 HYAL1 NM_033159.4(HYAL1):c.*173T>C SNV Uncertain significance 346081 rs184872974 GRCh37: 3:50337741-50337741
GRCh38: 3:50300310-50300310
19 HYAL1 NM_153281.1(HYAL1):c.-395G>A SNV Uncertain significance 346101 rs886058699 GRCh37: 3:50349780-50349780
GRCh38: 3:50312349-50312349
20 HYAL1 NM_033159.4(HYAL1):c.630T>C (p.Tyr210=) SNV Uncertain significance 346087 rs781838448 GRCh37: 3:50339758-50339758
GRCh38: 3:50302327-50302327
21 HYAL1 NM_033159.4(HYAL1):c.*434C>T SNV Uncertain significance 346079 rs182987423 GRCh37: 3:50337480-50337480
GRCh38: 3:50300049-50300049
22 HYAL1 NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln) SNV Uncertain significance 346082 rs368957453 GRCh37: 3:50337930-50337930
GRCh38: 3:50300499-50300499
23 HYAL1 NM_153281.1(HYAL1):c.-320_-319del Deletion Uncertain significance 346099 rs782640837 GRCh37: 3:50349704-50349705
GRCh38: 3:50312273-50312274
24 HYAL1 NM_033159.4(HYAL1):c.-5G>A SNV Uncertain significance 346090 rs368638384 GRCh37: 3:50340392-50340392
GRCh38: 3:50302961-50302961
25 HYAL1 NM_033159.4(HYAL1):c.846G>A (p.Pro282=) SNV Uncertain significance 346085 rs782094366 GRCh37: 3:50339542-50339542
GRCh38: 3:50302111-50302111
26 HYAL1 NM_033159.4(HYAL1):c.1112G>A (p.Arg371His) SNV Uncertain significance 968114 GRCh37: 3:50338110-50338110
GRCh38: 3:50300679-50300679
27 HYAL1 NM_033159.4(HYAL1):c.1047G>C (p.Leu349=) SNV Uncertain significance 991891 GRCh37: 3:50338175-50338175
GRCh38: 3:50300744-50300744
28 HYAL1 NM_033159.4(HYAL1):c.796G>A (p.Val266Met) SNV Uncertain significance 991892 GRCh37: 3:50339592-50339592
GRCh38: 3:50302161-50302161
29 HYAL1 NM_033159.4(HYAL1):c.587G>A (p.Arg196His) SNV Uncertain significance 991893 GRCh37: 3:50339801-50339801
GRCh38: 3:50302370-50302370
30 HYAL1 NM_033159.4(HYAL1):c.551C>T (p.Ala184Val) SNV Uncertain significance 991894 GRCh37: 3:50339837-50339837
GRCh38: 3:50302406-50302406
31 HYAL1 NM_033159.4(HYAL1):c.1138C>T (p.Leu380Phe) SNV Uncertain significance 1007713 GRCh37: 3:50338084-50338084
GRCh38: 3:50300653-50300653
32 HYAL1 NM_033159.4(HYAL1):c.545G>C (p.Trp182Ser) SNV Uncertain significance 1014561 GRCh37: 3:50339843-50339843
GRCh38: 3:50302412-50302412
33 HYAL1 NM_033159.4(HYAL1):c.200G>A (p.Arg67His) SNV Uncertain significance 1018908 GRCh37: 3:50340188-50340188
GRCh38: 3:50302757-50302757
34 HYAL1 NM_033159.4(HYAL1):c.408C>G (p.Arg136=) SNV Uncertain significance 969399 GRCh37: 3:50339980-50339980
GRCh38: 3:50302549-50302549
35 HYAL1 NM_153281.1(HYAL1):c.-319T>C SNV Uncertain significance 899905 GRCh37: 3:50349704-50349704
GRCh38: 3:50312273-50312273
36 HYAL1 NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp) SNV Uncertain significance 901013 GRCh37: 3:50337932-50337932
GRCh38: 3:50300501-50300501
37 HYAL1 NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln) SNV Uncertain significance 901014 GRCh37: 3:50337966-50337966
GRCh38: 3:50300535-50300535
38 HYAL1 NM_033159.4(HYAL1):c.1176G>A (p.Thr392=) SNV Uncertain significance 901015 GRCh37: 3:50338046-50338046
GRCh38: 3:50300615-50300615
39 HYAL1 NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser) SNV Uncertain significance 901016 GRCh37: 3:50338134-50338134
GRCh38: 3:50300703-50300703
40 HYAL1 NM_033159.4(HYAL1):c.1047G>A (p.Leu349=) SNV Uncertain significance 901017 GRCh37: 3:50338175-50338175
GRCh38: 3:50300744-50300744
41 HYAL1 NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr) SNV Uncertain significance 901574 GRCh37: 3:50339709-50339709
GRCh38: 3:50302278-50302278
42 HYAL1 NM_033159.4(HYAL1):c.168C>T (p.Phe56=) SNV Uncertain significance 903506 GRCh37: 3:50340220-50340220
GRCh38: 3:50302789-50302789
43 HYAL1 NM_153281.1(HYAL1):c.-237A>T SNV Uncertain significance 903507 GRCh37: 3:50347136-50347136
GRCh38: 3:50309705-50309705
44 HYAL1 NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys) SNV Uncertain significance 3530 rs104893743 GRCh37: 3:50339586-50339586
GRCh38: 3:50302155-50302155
45 HYAL1 NM_033159.4(HYAL1):c.1291C>T (p.Arg431Trp) SNV Uncertain significance 1041971 GRCh37: 3:50337931-50337931
GRCh38: 3:50300500-50300500
46 HYAL1 NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser) SNV Likely benign 725404 rs587637619 GRCh37: 3:50339969-50339969
GRCh38: 3:50302538-50302538
47 HYAL1 NM_033159.4(HYAL1):c.483T>C (p.Asp161=) SNV Likely benign 739148 rs368360137 GRCh37: 3:50339905-50339905
GRCh38: 3:50302474-50302474
48 HYAL1 NM_033159.4(HYAL1):c.150C>T (p.Asp50=) SNV Likely benign 765955 rs377272298 GRCh37: 3:50340238-50340238
GRCh38: 3:50302807-50302807
49 HYAL1 NM_033159.4(HYAL1):c.915C>T (p.His305=) SNV Likely benign 766075 rs1290078379 GRCh37: 3:50338494-50338494
GRCh38: 3:50301063-50301063
50 HYAL1 NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp) SNV Likely benign 787973 rs587774476 GRCh37: 3:50339934-50339934
GRCh38: 3:50302503-50302503

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

72
# Symbol AA change Variation ID SNP ID
1 HYAL1 p.Glu268Lys VAR_023643 rs104893743

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:

36
# 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 lysosome GO:0005764 9.26 HYAL2 HYAL1 HGSNAT GM2A
2 lysosomal lumen GO:0043202 9.16 HYAL1 GM2A
3 cytoplasmic vesicle GO:0031410 9.02 SPAM1 HYAL4 HYAL2 HYAL1 HAS2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cellular response to tumor necrosis factor GO:0071356 9.69 HYAL2 HYAL1 HAS2
2 carbohydrate metabolic process GO:0005975 9.62 SPAM1 HYAL4 HYAL2 HYAL1
3 response to virus GO:0009615 9.58 HYAL2 HYAL1
4 viral entry into host cell GO:0046718 9.58 HYAL2 HYAL1
5 cartilage development GO:0051216 9.57 HYAL2 HYAL1
6 cellular response to fibroblast growth factor stimulus GO:0044344 9.56 HYAL2 HYAL1
7 response to antibiotic GO:0046677 9.55 HYAL2 HYAL1
8 cellular response to platelet-derived growth factor stimulus GO:0036120 9.54 HYAL1 HAS2
9 cellular response to interleukin-1 GO:0071347 9.54 HYAL2 HYAL1 HAS2
10 response to reactive oxygen species GO:0000302 9.52 HYAL2 HYAL1
11 positive regulation of urine volume GO:0035810 9.49 HYAL2 HAS2
12 chondroitin sulfate catabolic process GO:0030207 9.48 HYAL4 HYAL1
13 hyaluronan metabolic process GO:0030212 9.46 HYAL1 HAS2
14 metabolic process GO:0008152 9.46 SPAM1 HYAL4 HYAL2 HYAL1
15 cellular response to UV-B GO:0071493 9.43 HYAL2 HYAL1
16 hyaluronan biosynthetic process GO:0030213 9.4 HYAL1 HAS2
17 renal water absorption GO:0070295 9.26 HYAL2 HAS2
18 glycosaminoglycan catabolic process GO:0006027 9.13 HYAL4 HYAL2 HGSNAT
19 hyaluronan catabolic process GO:0030214 8.92 SPAM1 HYAL4 HYAL2 HYAL1

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 9.72 SPAM1 HYAL4 HYAL2 HYAL1 GM2A
2 catalytic activity GO:0003824 9.56 SPAM1 HYAL4 HYAL2 HYAL1
3 virus receptor activity GO:0001618 9.37 HYAL2 HYAL1
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 SPAM1 HYAL4 HYAL2 HYAL1
5 hyaluronan synthase activity GO:0050501 9.16 HYAL1 HAS2
6 hyalurononglucosaminidase activity GO:0004415 8.92 SPAM1 HYAL4 HYAL2 HYAL1

Sources for Mucopolysaccharidosis, Type Ix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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