MCID: MCP037
MIFTS: 50

Mucopolysaccharidosis is malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases, Skin diseases categories

Summaries for Mucopolysaccharidosis is

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NIH Rare Diseases:41 Mucopolysaccharidosis i (mps i) is a condition that affects many different parts of the body. it is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. mps i is caused by reduced levels or the complete lack of the idua enzyme. without the proper amount of this enzyme, many different organs and tissues of the body become enlarged, resulting in various medical problems. this condition is usually divided into two subtypes, severe mps i and attenuated mps i. while both types can cause similar symptoms, people with severe mps i typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. although there is no cure for mps i, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition. last updated: 7/15/2008

MalaCards based summary: Mucopolysaccharidosis is, also known as scheie syndrome, is related to mucopolysaccharidosis and mucopolysaccharidosis ih/s, and has symptoms including sinusitis, coarse facial features and otitis media. An important gene associated with Mucopolysaccharidosis is is IDUA (iduronidase, alpha-L-). The drug laronidase has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart.

Disease Ontology:9 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-l-iduronidase.

Genetics Home Reference:21 Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.

OMIM:45 The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in... (607016) more...

GeneReviews summary for mps1

Aliases & Classifications for Mucopolysaccharidosis is

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 45OMIM, 10diseasecard, 30LifeMap Discovery®, 20GeneTests, 47Orphanet, 60UMLS, 19GeneReviews, 43Novoseek, 22GTR, 38NCIt, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Mucopolysaccharidosis is, Aliases & Descriptions:

Name: Mucopolysaccharidosis is 45 10 30
Scheie Syndrome 45 9 41 20 21 47
Mucopolysaccharidosis Type I 19 41 21 43 47
Alpha-L-Iduronidase Deficiency 19 41 47 60
Mucopolysaccharidosis Type 1 41 20 47 22
Mucopolysaccharidosis I 30 9 21 60
Hurler-Scheie Syndrome 9 41 21 60
Idua Deficiency 19 41 21
Hurler Syndrome 9 41 21
Mps I 19 41 21
Mucopolysaccharidosis Type is 9 47
Mucopolysaccharidosis Type 1s 9 47
Mps1 41 47
Iduronidase Deficiency Disease 9
 
Mucopolysaccharidosis, Type 1 9
Mucopolysaccharidosis, Mps-I 9
Mucopolysaccharidosis Type V 9
Pfaundler-Hurler Syndrome 60
Mucopolysaccharidosis V 60
Mps I - Hurler Syndrome 9
Lipochondrodystrophy 9
Attenuated Mps I 41
Severe Mps I 41
Mps I H-S 21
Mps I H 21
Mps I S 21
Mps1s 47
Mps 1 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
mucopolysaccharidosis type i:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: adolescent,late childhood
scheie syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood; Age of death: elderly


External Ids:

OMIM45 607016
Disease Ontology9 DOID:12802, DOID:0060222
NCIt38 C85053
MeSH33 D008059
Orphanet47 579, 93474
MESH via Orphanet34 D008059
ICD10 via Orphanet26 E76.0
UMLS via Orphanet61 C0023786, C2713321
ICD1025 E76.0

Related Diseases for Mucopolysaccharidosis is

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Diseases in the Mucopolysaccharidosis family:

Mucopolysaccharidosis Type Ivb Mucopolysaccharidosis Type Ix
Mucopolysaccharidosis Ih mucopolysaccharidosis is
Mucopolysaccharidosis Ih/s Mucopolysaccharidosis Type Vi
Mucopolysaccharidosis Vii Mucopolysaccharidosis Type Iiic
Mucopolysaccharidosis Type Iiid Mucopolysaccharidosis Iva
Mucopolysaccharidosis Type Iiib Mucopolysaccharidosis Ii
Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv
Mucopolysaccharidosis Type 2, Severe Form

Diseases related to Mucopolysaccharidosis is via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis10.7
2mucopolysaccharidosis ih/s10.6
3mucopolysaccharidosis ih10.4
4metachromatic leukodystrophy10.3
5hematopoietic stem cell transplantation10.3
6leukodystrophy10.3
7melanoma10.3
8adrenoleukodystrophy10.2
9factor vii deficiency10.2
10coronary artery disease10.2
11craniosynostosis10.2
12portal hypertension10.2
13artery disease10.2
14endocarditis10.2
15neurologic diseases10.2
16nodular regenerative hyperplasia10.2
17aneurysm10.2
18macular corneal dystrophy10.1
19arthritis10.1
20pseudopapilledema10.1
21cerebritis10.1
22cervicitis10.1
23corneal dystrophy10.1
24myopathy10.1
25trigger thumb10.1
26diarrhea10.1
27mongolian spot10.1
28lissencephaly10.1
29fabry disease10.1
30hydrocephalus10.1
31endocardial fibroelastosis10.1
32dysostosis10.1
33eye disease10.1
34sleep disorder10.1
35ataxia10.1
36blindness10.1
37breast cancer10.0
38pancreatic ductal adenocarcinoma10.0
39adenocarcinoma10.0
40pancreatitis10.0
41glioblastoma10.0

Graphical network of the top 20 diseases related to Mucopolysaccharidosis is:



Diseases related to mucopolysaccharidosis is

Symptoms for Mucopolysaccharidosis is

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Symptoms by clinical synopsis from OMIM:

607016

Clinical features from OMIM:

607016

Symptoms:

 47 (show all 64)
  • coarse face
  • corneal clouding/opacity/vascularisation
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • chronic/relapsing otitis
  • scoliosis
  • abnormal vertebral size/shape
  • herniae
  • inguinal/inguinoscrotal/crural hernia
  • claw hand/retracted fingers
  • hirsutism/hypertrichosis/increased body hair
  • storage liver disease
  • splenomegaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • metaphyseal anomaly
  • epiphyseal anomaly
  • restricted joint mobility/joint stiffness/ankylosis
  • mucopolysacchariduria
  • short stature/dwarfism/nanism
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • dolichocephaly/scaphocephaly
  • low hair line-front
  • face/facial anomalies
  • broad cheeks/cherub-like/cherubin face
  • glaucoma
  • retinopathy
  • long/large/bulbous nose
  • depressed nasal bridge
  • flared/thick ala nasi
  • thick lips
  • protruding lips
  • thickened/hypertrophic/fibromatous gingivae
  • complete/partial microdontia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • hearing loss/hypoacusia/deafness
  • sensorineural deafness/hearing loss
  • wide rib cage/thorax
  • tonsil anomaly/hypertrophy/adenoiditis
  • malabsorption/chronic diarrhea/steatorrhea
  • apnea/sleep apnea
  • cough
  • repeat respiratory infections
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • articular/joint pain/arthralgia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • rachidian/spine canal stenosis
  • cardiac valvulopathy
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • cardiomyopathy/hypertrophic/dilated
  • heart/cardiac failure
  • hydrocephaly
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • osteonecrosis/bone infarction
  • joint dislocation/subluxation
  • tendon rupture/tendinitis/bursitis/tenosynovitis
  • nerve conduction abnormality
  • acute palsy
  • anomalies of bones/skeletal anomalies
  • hepatomegaly/liver enlargement (excluding storage disease)
  • macrostomia/big mouth
  • hypertonia/spasticity/rigidity/stiffness

HPO human phenotypes related to Mucopolysaccharidosis is:

(show all 76)
id Description Frequency HPO Source Accession
1 sinusitis hallmark (90%) HP:0000246
2 coarse facial features hallmark (90%) HP:0000280
3 otitis media hallmark (90%) HP:0000388
4 abnormality of the metaphyses hallmark (90%) HP:0000944
5 hypertrichosis hallmark (90%) HP:0000998
6 limitation of joint mobility hallmark (90%) HP:0001376
7 abnormality of the voice hallmark (90%) HP:0001608
8 splenomegaly hallmark (90%) HP:0001744
9 scoliosis hallmark (90%) HP:0002650
10 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
11 hernia of the abdominal wall hallmark (90%) HP:0004299
12 short stature hallmark (90%) HP:0004322
13 abnormality of the epiphyses hallmark (90%) HP:0005930
14 opacification of the corneal stroma hallmark (90%) HP:0007759
15 mucopolysacchariduria hallmark (90%) HP:0008155
16 glaucoma hallmark (90%) HP:0000501
17 decreased nerve conduction velocity hallmark (90%) HP:0000762
18 abnormality of the aortic valve hallmark (90%) HP:0001646
19 cerebral palsy hallmark (90%) HP:0100021
20 thick lower lip vermilion typical (50%) HP:0000179
21 gingival overgrowth typical (50%) HP:0000212
22 everted lower lip vermilion typical (50%) HP:0000232
23 macrocephaly typical (50%) HP:0000256
24 dolichocephaly typical (50%) HP:0000268
25 full cheeks typical (50%) HP:0000293
26 low anterior hairline typical (50%) HP:0000294
27 sensorineural hearing impairment typical (50%) HP:0000407
28 abnormality of the nasal alae typical (50%) HP:0000429
29 retinopathy typical (50%) HP:0000488
30 glaucoma typical (50%) HP:0000501
31 microdontia typical (50%) HP:0000691
32 malabsorption typical (50%) HP:0002024
33 apnea typical (50%) HP:0002104
34 recurrent respiratory infections typical (50%) HP:0002205
35 developmental regression typical (50%) HP:0002376
36 arthralgia typical (50%) HP:0002829
37 abnormality of the hip bone typical (50%) HP:0003272
38 paresthesia typical (50%) HP:0003401
39 abnormal nasal morphology typical (50%) HP:0005105
40 depressed nasal bridge typical (50%) HP:0005280
41 cognitive impairment typical (50%) HP:0100543
42 enlarged thorax typical (50%) HP:0100625
43 abnormality of the tonsils typical (50%) HP:0100765
44 coarse facial features typical (50%) HP:0000280
45 splenomegaly typical (50%) HP:0001744
46 hepatomegaly typical (50%) HP:0002240
47 hydrocephalus occasional (7.5%) HP:0000238
48 visual impairment occasional (7.5%) HP:0000505
49 optic atrophy occasional (7.5%) HP:0000648
50 joint dislocation occasional (7.5%) HP:0001373
51 congestive heart failure occasional (7.5%) HP:0001635
52 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
53 abnormality of the aortic valve occasional (7.5%) HP:0001646
54 spinal canal stenosis occasional (7.5%) HP:0003416
55 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
56 aseptic necrosis occasional (7.5%) HP:0010885
57 abnormal tendon morphology occasional (7.5%) HP:0100261
58 wide mouth occasional (7.5%) HP:0000154
59 sinusitis occasional (7.5%) HP:0000246
60 sensorineural hearing impairment occasional (7.5%) HP:0000407
61 hypertonia occasional (7.5%) HP:0001276
62 glaucoma rare (5%) HP:0000501
63 retinal degeneration rare (5%) HP:0000546
64 autosomal recessive inheritance HP:0000007
65 broad face HP:0000283
66 full cheeks HP:0000293
67 mandibular prognathia HP:0000303
68 wide nose HP:0000445
69 short neck HP:0000470
70 aortic valve stenosis HP:0001650
71 aortic regurgitation HP:0001659
72 pes cavus HP:0001761
73 genu valgum HP:0002857
74 obstructive sleep apnea HP:0002870
75 depressed nasal bridge HP:0005280
76 corneal opacity HP:0007957

Drugs & Therapeutics for Mucopolysaccharidosis is

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Genetic Tests for Mucopolysaccharidosis is

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Genetic tests related to Mucopolysaccharidosis is:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type I20 22 IDUA
2 Scheie Syndrome20

Anatomical Context for Mucopolysaccharidosis is

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MalaCards organs/tissues related to Mucopolysaccharidosis is:

31
Bone, Bone marrow, Heart, Liver, Tonsil, Eye

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Mucopolysaccharidosis is:
id TissueAnatomical CompartmentCell Relevance
1 BoneBone MarrowBone Marrow Stromal Cells Potential therapeutic candidate

Animal Models for Mucopolysaccharidosis is or affiliated genes

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Publications for Mucopolysaccharidosis is

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Variations for Mucopolysaccharidosis is

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UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis is:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1IDUAp.Arg89GlnVAR_003354
2IDUAp.Arg89TrpVAR_003355
3IDUAp.Gln380ArgVAR_003366
4IDUAp.Arg383HisVAR_003367
5IDUAp.Leu490ProVAR_003374
6IDUAp.Arg492ProVAR_003375
7IDUAp.Asn350IleVAR_020983
8IDUAp.Ser423ArgVAR_020985
9IDUAp.Tyr76CysVAR_066215
10IDUAp.Gly219GluVAR_066220
11IDUAp.Glu276LysVAR_066222
12IDUAp.Trp306LeuVAR_066223
13IDUAp.Asn348LysVAR_066224
14IDUAp.Leu18ProVAR_072367

Clinvar genetic disease variations for Mucopolysaccharidosis is:

6
id Gene Variation Type Significance SNP ID Assembly Location
1IDUANM_000203.4(IDUA): c.1874A> G (p.Tyr625Cys)single nucleotide variantPathogenicGRCh37Chr 4, 998093: 998093
2IDUANM_000203.4(IDUA): c.1598C> G (p.Pro533Arg)single nucleotide variantPathogenicrs121965021GRCh37Chr 4, 997206: 997206
3IDUAIDUA, IVS5AS, G-A, -7single nucleotide variantPathogenic
4IDUANM_000203.4(IDUA): c.192C> A (p.Tyr64Ter)single nucleotide variantPathogenicrs121965022GRCh37Chr 4, 981630: 981630
5IDUANM_000203.4(IDUA): c.928C> T (p.Gln310Ter)single nucleotide variantPathogenicrs121965023GRCh37Chr 4, 995905: 995905
6IDUANM_000203.4(IDUA): c.1096A> C (p.Thr366Pro)single nucleotide variantPathogenicrs121965024GRCh37Chr 4, 996180: 996180
7IDUANM_000203.4(IDUA): c.1861C> T (p.Arg621Ter)single nucleotide variantPathogenicrs121965025GRCh37Chr 4, 998080: 998080
8IDUANM_000203.4(IDUA): c.1475G> C (p.Arg492Pro)single nucleotide variantPathogenicrs121965026GRCh37Chr 4, 996896: 996896
9IDUANM_000203.4(IDUA): c.1037T> G (p.Leu346Arg)single nucleotide variantPathogenicrs121965033GRCh37Chr 4, 996121: 996121

Expression for genes affiliated with Mucopolysaccharidosis is

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Search GEO for disease gene expression data for Mucopolysaccharidosis is.

Pathways for genes affiliated with Mucopolysaccharidosis is

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Compounds for genes affiliated with Mucopolysaccharidosis is

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GO Terms for genes affiliated with Mucopolysaccharidosis is

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Products for genes affiliated with Mucopolysaccharidosis is

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mucopolysaccharidosis is

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet