MPS1H
MCID: MCP012
MIFTS: 41

Mucopolysaccharidosis Ih (MPS1H) malady

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

Aliases & Classifications for Mucopolysaccharidosis Ih

Aliases & Descriptions for Mucopolysaccharidosis Ih:

Name: Mucopolysaccharidosis Ih 54 50 13
Hurler Syndrome 54 50 24 56 66
Mucopolysaccharidosis Type Ih 50 56 66
Mps1h 50 56 66
Alpha-L-Iduronidase Deficiency 66 69
Mucopolysaccharidosis Type 1h 50 56
Hurler's Syndrome 66 29
Hurler Disease 50 56
Mps Ih 24 66
Mpsih 50 56
Pfaundler-Hurler Syndrome 69
Mucopolysaccharidosis 1h 66
Mucopolysaccharidosis I 69
Severe Mps 1 24
Mps1-H 50
Mps 1h 24
Mps-Ih 66

Characteristics:

Orphanet epidemiological data:

56
hurler syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom),1-9/1000000 (Germany),1-9/1000000 (Denmark),1-9/100000 (Portugal),<1/1000000 (Taiwan, Province of China),1-9/1000000 (Australia); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

HPO:

32
mucopolysaccharidosis ih:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 607014
Orphanet 56 ORPHA93473
ICD10 via Orphanet 34 E76.0
MedGen 40 C0086795
MeSH 42 D008059

Summaries for Mucopolysaccharidosis Ih

OMIM : 54 The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in... (607014) more...

MalaCards based summary : Mucopolysaccharidosis Ih, also known as hurler syndrome, is related to mucopolysaccharidosis ih/s and mucopolysaccharidosis is, and has symptoms including angina pectoris, abnormal pyramidal signs and short neck. An important gene associated with Mucopolysaccharidosis Ih is IDUA (Iduronidase, Alpha-L-). The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin.

UniProtKB/Swiss-Prot : 66 Mucopolysaccharidosis 1H: A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.

Related Diseases for Mucopolysaccharidosis Ih

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



Diseases related to Mucopolysaccharidosis Ih

Symptoms & Phenotypes for Mucopolysaccharidosis Ih

Symptoms by clinical synopsis from OMIM:

607014

Clinical features from OMIM:

607014

Human phenotypes related to Mucopolysaccharidosis Ih:

56 32 (show top 50) (show all 89)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 angina pectoris 56 32 Occasional (29-5%) HP:0001681
2 abnormal pyramidal signs 56 32 Occasional (29-5%) HP:0007256
3 short neck 56 32 Very frequent (99-80%) HP:0000470
4 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
5 abnormality of epiphysis morphology 56 32 Frequent (79-30%) HP:0005930
6 hydrocephalus 56 32 Frequent (79-30%) HP:0000238
7 depression 56 32 Frequent (79-30%) HP:0000716
8 hypertension 56 32 Frequent (79-30%) HP:0000822
9 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
10 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
11 sleep disturbance 56 32 Frequent (79-30%) HP:0002360
12 scoliosis 56 32 Frequent (79-30%) HP:0002650
13 large face 56 32 Very frequent (99-80%) HP:0100729
14 macroglossia 56 32 Frequent (79-30%) HP:0000158
15 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
16 hearing impairment 56 32 Frequent (79-30%) HP:0000365
17 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
18 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
19 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
20 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
21 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
22 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
23 corneal opacity 56 32 Frequent (79-30%) HP:0007957
24 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
25 abnormality of the vertebrae 56 32 Very frequent (99-80%) HP:0003468
26 thick vermilion border 56 32 Frequent (79-30%) HP:0012471
27 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
28 thick eyebrow 56 32 Very frequent (99-80%) HP:0000574
29 short stature 56 32 Frequent (79-30%) HP:0004322
30 mucopolysacchariduria 56 32 Very frequent (99-80%) HP:0008155
31 retinopathy 56 32 Frequent (79-30%) HP:0000488
32 full cheeks 56 32 Very frequent (99-80%) HP:0000293
33 feeding difficulties 56 32 Frequent (79-30%) HP:0011968
34 abnormality of the heart valves 56 32 Very frequent (99-80%) HP:0001654
35 hernia 56 32 Very frequent (99-80%) HP:0100790
36 generalized hirsutism 56 32 Very frequent (99-80%) HP:0002230
37 dolichocephaly 56 32 Frequent (79-30%) HP:0000268
38 limitation of joint mobility 56 32 Very frequent (99-80%) HP:0001376
39 everted lower lip vermilion 56 32 Frequent (79-30%) HP:0000232
40 cardiomyopathy 56 32 Very frequent (99-80%) HP:0001638
41 glaucoma 56 32 Frequent (79-30%) HP:0000501
42 abnormality of the tonsils 56 32 Very frequent (99-80%) HP:0100765
43 abnormality of the ribs 56 32 Frequent (79-30%) HP:0000772
44 chronic diarrhea 56 32 Frequent (79-30%) HP:0002028
45 spinal canal stenosis 56 32 Occasional (29-5%) HP:0003416
46 abnormality of the elbow 56 32 Frequent (79-30%) HP:0009811
47 cerebral palsy 56 32 Very frequent (99-80%) HP:0100021
48 abnormality of skin pigmentation 56 32 Occasional (29-5%) HP:0001000
49 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
50 abnormality of the clavicle 56 32 Frequent (79-30%) HP:0000889

UMLS symptoms related to Mucopolysaccharidosis Ih:


joint stiffness

Drugs & Therapeutics for Mucopolysaccharidosis Ih

Drugs for Mucopolysaccharidosis Ih (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 68)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 1,Phase 2
2 Immunoglobulins Phase 4,Phase 1,Phase 2
3 Pharmaceutical Solutions Phase 3
4
Busulfan Approved, Investigational Phase 2 55-98-1 2478
5
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
6
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
8
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
9
Cyclosporine Approved, Investigational, Vet_approved Phase 1, Phase 2 79217-60-0, 59865-13-3 5284373 6435893
10
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
11
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
12
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
13
Thiotepa Approved Phase 2,Phase 1 52-24-4 5453
14
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
15
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
16
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
17
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
18
rituximab Approved Phase 2 174722-31-7 10201696
19
Acetaminophen Approved Phase 2 103-90-2 1983
20
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
21
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
22
Promethazine Approved Phase 2 60-87-7 4927
23
Vidarabine Approved Phase 2 24356-66-9 32326 21704
24
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
25
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
26
Zinc Approved Phase 1, Phase 2 7440-66-6 32051 23994
27
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
28
Mesna Approved Phase 2 3375-50-6 598
29
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
30 tannic acid Approved, Nutraceutical Phase 2
31 Alkylating Agents Phase 2
32 Antilymphocyte Serum Phase 2
33 Antineoplastic Agents, Alkylating Phase 2
34 Antirheumatic Agents Phase 2,Phase 1
35 Immunosuppressive Agents Phase 2,Phase 1
36 Methylprednisolone acetate Phase 2
37 Methylprednisolone Hemisuccinate Phase 2
38 Prednisolone acetate Phase 2
39 Prednisolone hemisuccinate Phase 2
40 Prednisolone phosphate Phase 2
41 Antifungal Agents Phase 1, Phase 2
42 Anti-Infective Agents Phase 1, Phase 2
43 Antimetabolites Phase 1, Phase 2
44 Antimetabolites, Antineoplastic Phase 1, Phase 2
45 Calcineurin Inhibitors Phase 1, Phase 2
46 Dermatologic Agents Phase 1, Phase 2
47 N-monoacetylcystine Phase 2
48 Thioctic Acid Phase 2
49 Tocopherols Phase 2
50 Tocotrienols Phase 2

Interventional clinical trials:

(show all 39)
id Name Status NCT ID Phase
1 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
2 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients Completed NCT00144768 Phase 4
3 A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Recruiting NCT00418821 Phase 4
4 Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I Completed NCT00912925 Phase 3
5 Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00258011 Phase 3
6 Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00146770 Phase 3
7 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
8 Stem Cell Transplant w/Laronidase for Hurler Completed NCT00176891 Phase 2
9 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2
10 Immune Tolerance Study With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2
11 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
12 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
13 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
14 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
15 Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I Active, not recruiting NCT03053089 Phase 1, Phase 2
16 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2
17 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
18 Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I Enrolling by invitation NCT03071341 Phase 1, Phase 2
19 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
20 Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD) Withdrawn NCT02715505 Phase 1, Phase 2
21 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1
22 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
23 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
24 Intrathecal Enzyme Replacement for Hurler Syndrome Active, not recruiting NCT00638547 Phase 1
25 Administration of IV Laronidase Post Bone Marrow Transplant in Hurler Active, not recruiting NCT01173016 Phase 1
26 Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I Active, not recruiting NCT02371226 Phase 1
27 Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181 Enrolling by invitation NCT02597114 Phase 1
28 Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I Terminated NCT00786968 Phase 1
29 Effects of Growth Hormone in Chronically Ill Children Unknown status NCT00286689
30 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
31 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Completed NCT00852358
32 Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome Recruiting NCT01572636
33 Biomarker for Patients With Hurler Disease or High-grade Suspicion for Hurler Disease Recruiting NCT02298712
34 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
35 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
36 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Recruiting NCT01938014
37 Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants Available NCT01881334
38 Ultrasonographic Assessment of Carpal Tunnel Syndrome Enrolling by invitation NCT02196220
39 Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project) Terminated NCT02095015

Search NIH Clinical Center for Mucopolysaccharidosis Ih

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Mucopolysaccharidosis Ih

Genetic tests related to Mucopolysaccharidosis Ih:

id Genetic test Affiliating Genes
1 Hurler Syndrome 29 24

Anatomical Context for Mucopolysaccharidosis Ih

MalaCards organs/tissues related to Mucopolysaccharidosis Ih:

39
Bone, Heart, Skin, Eye, Tonsil

Publications for Mucopolysaccharidosis Ih

Articles related to Mucopolysaccharidosis Ih:

id Title Authors Year
1
Clinical, confocal, and morphological investigations on the cornea in human mucopolysaccharidosis IH-S. ( 24212765 )
2014
2
Sinus complications in mucopolysaccharidosis IH/S (Hurler-Scheie syndrome). ( 8444549 )
1993
3
A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH). ( 8477267 )
1993
4
Hurler/Scheie genetic compound (mucopolysaccharidosis IH/IS) in Japanese brothers. ( 4373197 )
1974

Variations for Mucopolysaccharidosis Ih

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

66 (show all 18)
id Symbol AA change Variation ID SNP ID
1 IDUA p.Gly51Asp VAR_003351 rs794726877
2 IDUA p.Ala75Thr VAR_003352 rs758452450
3 IDUA p.Leu218Pro VAR_003358 rs869025584
4 IDUA p.Asp315Tyr VAR_003360
5 IDUA p.Ala327Pro VAR_003361 rs199801029
6 IDUA p.Asp349Asn VAR_003362 rs368454909
7 IDUA p.Thr366Pro VAR_003365 rs121965024
8 IDUA p.Thr388Arg VAR_003368
9 IDUA p.Gly409Arg VAR_003370 rs11934801
10 IDUA p.Arg489Pro VAR_003373 rs4690226
11 IDUA p.Pro533Arg VAR_003378 rs121965021
12 IDUA p.Met133Ile VAR_020977 rs558683362
13 IDUA p.Glu182Lys VAR_020978 rs754154200
14 IDUA p.Gly208Asp VAR_020979
15 IDUA p.Asp349Tyr VAR_020982
16 IDUA p.Thr103Pro VAR_066217
17 IDUA p.Pro385Arg VAR_066225
18 IDUA p.Val620Phe VAR_072368

ClinVar genetic disease variations for Mucopolysaccharidosis Ih:

6 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1 IDUA NM_000203.4(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 GRCh37 Chromosome 4, 996535: 996535
2 IDUA NM_000203.4(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 GRCh37 Chromosome 4, 981646: 981646
3 IDUA NM_000203.4(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh37 Chromosome 4, 997206: 997206
4 IDUA IDUA, 1-BP DEL, 1702G deletion Pathogenic
5 IDUA NM_000203.4(IDUA): c.192C> A (p.Tyr64Ter) single nucleotide variant Pathogenic rs121965022 GRCh37 Chromosome 4, 981630: 981630
6 IDUA NM_000203.4(IDUA): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic rs121965023 GRCh37 Chromosome 4, 995905: 995905
7 IDUA NM_000203.4(IDUA): c.1096A> C (p.Thr366Pro) single nucleotide variant Pathogenic rs121965024 GRCh37 Chromosome 4, 996180: 996180
8 IDUA NM_000203.4(IDUA): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs121965025 GRCh37 Chromosome 4, 998080: 998080
9 IDUA NM_000203.4(IDUA): c.1469T> C (p.Leu490Pro) single nucleotide variant Pathogenic rs121965027 GRCh37 Chromosome 4, 996890: 996890
10 IDUA NM_000203.4(IDUA): c.613_617dupTGCTC (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh37 Chromosome 4, 995490: 995494
11 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh37 Chromosome 4, 981704: 981704
12 IDUA NM_000203.4(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 GRCh37 Chromosome 4, 996121: 996121
13 IDUA NM_000203.4(IDUA): c.1045G> A (p.Asp349Asn) single nucleotide variant Pathogenic rs368454909 GRCh37 Chromosome 4, 996129: 996129
14 IDUA NM_000203.4(IDUA): c.1402+1G> C single nucleotide variant Pathogenic rs398123254 GRCh37 Chromosome 4, 996733: 996733
15 IDUA NM_000203.4(IDUA): c.1650+5G> A single nucleotide variant Pathogenic rs398123256 GRCh37 Chromosome 4, 997263: 997263
16 IDUA NM_000203.4(IDUA): c.1799delC (p.Ser600Terfs) deletion Pathogenic rs398123258 GRCh37 Chromosome 4, 997871: 997871
17 IDUA NM_000203.4(IDUA): c.299+1G> T single nucleotide variant Pathogenic rs398123259 GRCh37 Chromosome 4, 981738: 981738
18 IDUA NM_000203.4(IDUA): c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) deletion Pathogenic rs398123260 GRCh37 Chromosome 4, 980918: 980929
19 IDUA NM_000203.4(IDUA): c.501C> G (p.Tyr167Ter) single nucleotide variant Pathogenic rs200726100 GRCh37 Chromosome 4, 995263: 995263
20 IDUA NM_000203.4(IDUA): c.1874A> G (p.Tyr625Cys) single nucleotide variant Pathogenic rs587779401 GRCh37 Chromosome 4, 998093: 998093
21 IDUA NM_000203.4(IDUA): c.979G> C (p.Ala327Pro) single nucleotide variant Pathogenic rs199801029 GRCh37 Chromosome 4, 996063: 996063
22 IDUA NM_000203.4(IDUA): c.164delC (p.Pro55Argfs) deletion Pathogenic rs727503966 GRCh37 Chromosome 4, 981602: 981602
23 IDUA NM_000203.4(IDUA): c.1614delG (p.His539Thrfs) deletion Pathogenic rs727503967 GRCh37 Chromosome 4, 997222: 997222
24 IDUA NM_000203.4(IDUA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs794726877 GRCh37 Chromosome 4, 981024: 981024
25 IDUA NM_000203.4(IDUA): c.1529C> G (p.Pro510Arg) single nucleotide variant Likely pathogenic rs794727017 GRCh37 Chromosome 4, 997137: 997137
26 IDUA NM_000203.4(IDUA): c.191_192delAC (p.Tyr64Cysfs) deletion Pathogenic rs794727240 GRCh37 Chromosome 4, 981629: 981630
27 IDUA NM_000203.4(IDUA): c.494-1G> C single nucleotide variant Pathogenic rs794727701 GRCh37 Chromosome 4, 995255: 995255
28 IDUA NM_000203.4(IDUA): c.972+1G> A single nucleotide variant Pathogenic rs794727840 GRCh37 Chromosome 4, 995950: 995950
29 IDUA NM_000203.4(IDUA): c.523T> C (p.Trp175Arg) single nucleotide variant Likely pathogenic rs875989946 GRCh38 Chromosome 4, 1001497: 1001497
30 IDUA NM_000203.4(IDUA): c.612_615dupCTGC (p.Ser206Leufs) duplication Pathogenic rs875989947 GRCh38 Chromosome 4, 1001701: 1001704
31 IDUA NM_000203.4(IDUA): c.1855C> T (p.Arg619Ter) single nucleotide variant Pathogenic rs121965031 GRCh37 Chromosome 4, 998074: 998074
32 IDUA NM_000203.4(IDUA): c.1898C> G (p.Ser633Trp) single nucleotide variant Pathogenic rs886043347 GRCh37 Chromosome 4, 998117: 998117

Expression for Mucopolysaccharidosis Ih

Search GEO for disease gene expression data for Mucopolysaccharidosis Ih.

Pathways for Mucopolysaccharidosis Ih

GO Terms for Mucopolysaccharidosis Ih

Sources for Mucopolysaccharidosis Ih

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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33 ICD10
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37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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55 OMIM via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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