MCID: MCP012
MIFTS: 44

Mucopolysaccharidosis Ih

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

Aliases & Classifications for Mucopolysaccharidosis Ih

MalaCards integrated aliases for Mucopolysaccharidosis Ih:

Name: Mucopolysaccharidosis Ih 54 13
Hurler Syndrome 56 71 29
Alpha-L-Iduronidase Deficiency 71 69
Mucopolysaccharidosis Type Ih 56 71
Mps1h 56 71
Mucopolysaccharidosis Type 1h 56
Pfaundler-Hurler Syndrome 69
Mucopolysaccharidosis 1h 71
Mucopolysaccharidosis I 69
Hurler's Syndrome 71
Hurler Disease 56
Mps Ih 71
Mps-Ih 71
Mpsih 56

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;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age
enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration
alpha-l-iduronidase activity is <1% for all forms of mps1
mps1 types are distinguished clinically by age of onset and progression or by mutation(s)


HPO:

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


Classifications:



Summaries for Mucopolysaccharidosis Ih

OMIM : 54
The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function. Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH), Scheie (MPS IS; 607016), and Hurler-Scheie (MPS IH/S; 607015) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972). MPS I is more frequent than MPS II (Hunter syndrome; 309900), which has no corneal clouding and pursues a slower course. (607014)

MalaCards based summary : Mucopolysaccharidosis Ih, also known as hurler syndrome, is related to mucopolysaccharidosis ih/s and mucopolysaccharidosis is, and has symptoms including short stature, scoliosis and macroglossia. 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, brain and bone marrow.

UniProtKB/Swiss-Prot : 71 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

Symptoms & Phenotypes for Mucopolysaccharidosis Ih

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Nose:
anteverted nostrils
broad nasal tip
low nasal bridge

Skin Nails & Hair- Hair:
hirsutism

Abdomen- Liver:
hepatomegaly

Skeletal- Skull:
hydrocephalus
premature closure of the metopic suture
premature closure of the sagittal suture
j-shaped sella turcica

Head And Neck- Mouth:
full lips
gum hypertrophy
enlarged tongue
hypertrophy of alveolar ridge

Head And Neck- Neck:
short neck

Genitourinary- External Genitalia Male:
inguinal hernia

Head And Neck- Face:
coarse face
full cheeks

Head And Neck- Eyes:
retinal degeneration (in some patients)
glaucoma (in some patients)
cloudy corneas

Skin Nails & Hair- Skin:
dermal melanocytosis

Respiratory:
frequent upper and lower respiratory tract infections

Respiratory- Larynx:
enlarged vocal cords

Chest- Ribs Sternum Clavicles And Scapulae:
oar-shaped ribs (narrow at vertebral end, broad at sternal end)
short, thick, irregular clavicles

Skeletal- Hands:
bullet-shaped phalanges
carpal tunnel syndrome
claw-hand deformity

Skeletal:
joint contractures
dysostosis multiplex
joint stiffness

Neurologic- Central Nervous System:
mental retardation
neurodegeneration
developmental delay evident by 12-24 months of age
progressive mental deterioration

Abdomen- External Features:
umbilical hernia

Abdomen- Spleen:
splenomegaly

Skeletal- Pelvis:
coxa valga
flared iliac wings

Head And Neck- Teeth:
small teeth
misaligned teeth

Head And Neck- Head:
macrocephaly

Cardiovascular- Heart:
cardiomyopathy
endocardial fibroelastosis
mitral valve thickening
aortic regurgitation (in some patients)
mitral regurgitation (in some patients)
more
Head And Neck- Ears:
hearing loss (in some patients)
recurrent ear infections

Skeletal- Spine:
odontoid hypoplasia
dysplastic vertebral bodies
gibbus

Cardiovascular- Vascular:
narrow coronary arteries
thickened coronary arteries

Respiratory- Nasopharynx:
enlarged tonsils
enlarged adenoids

Respiratory- Airways:
narrow trachea
thickened mainstem bronchi
chronic obstructive airway disease

Skeletal- Limbs:
small femoral heads

Laboratory- Abnormalities:
excretion of dermatan sulfate and heparan sulfate in urine


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 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
3 macroglossia 56 32 frequent (33%) Frequent (79-30%) HP:0000158
4 recurrent respiratory infections 56 32 very rare (1%) Frequent (79-30%) HP:0002205
5 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
6 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001744
7 hydrocephalus 56 32 frequent (33%) Frequent (79-30%) HP:0000238
8 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
9 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
10 hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0100790
11 glaucoma 56 32 occasional (7.5%) Frequent (79-30%) HP:0000501
12 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
13 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
14 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
15 depression 56 32 frequent (33%) Frequent (79-30%) HP:0000716
16 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
17 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
18 cardiomyopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001638
19 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
20 full cheeks 56 32 hallmark (90%) Very frequent (99-80%) HP:0000293
21 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
22 spastic paraparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002313
23 endocardial fibroelastosis 56 32 very rare (1%) Occasional (29-5%) HP:0001706
24 feeding difficulties 56 32 frequent (33%) Frequent (79-30%) HP:0011968
25 dolichocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000268
26 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
27 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
28 retinopathy 56 32 frequent (33%) Frequent (79-30%) HP:0000488
29 cerebral palsy 56 32 hallmark (90%) Very frequent (99-80%) HP:0100021
30 rhinitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0012384
31 chronic diarrhea 56 32 frequent (33%) Frequent (79-30%) HP:0002028
32 corneal opacity 56 32 frequent (33%) Frequent (79-30%) HP:0007957
33 hearing impairment 56 32 occasional (7.5%) Frequent (79-30%) HP:0000365
34 spinal canal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003416
35 generalized hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0002230
36 sleep disturbance 56 32 frequent (33%) Frequent (79-30%) HP:0002360
37 angina pectoris 56 32 occasional (7.5%) Occasional (29-5%) HP:0001681
38 large face 56 32 hallmark (90%) Very frequent (99-80%) HP:0100729
39 everted lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000232
40 abnormality of epiphysis morphology 56 32 frequent (33%) Frequent (79-30%) HP:0005930
41 abnormal pyramidal signs 56 32 occasional (7.5%) Occasional (29-5%) HP:0007256
42 abnormality of the vertebrae 56 32 hallmark (90%) Very frequent (99-80%) HP:0003468
43 thick vermilion border 56 32 frequent (33%) Frequent (79-30%) HP:0012471
44 thick eyebrow 56 32 hallmark (90%) Very frequent (99-80%) HP:0000574
45 mucopolysacchariduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0008155
46 abnormality of the heart valves 56 32 hallmark (90%) Very frequent (99-80%) HP:0001654
47 limitation of joint mobility 56 32 hallmark (90%) Very frequent (99-80%) HP:0001376
48 abnormality of the tonsils 56 32 hallmark (90%) Very frequent (99-80%) HP:0100765
49 abnormality of the ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000772
50 abnormality of the elbow 56 32 frequent (33%) Frequent (79-30%) HP:0009811

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 59)
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
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
10
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
11
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
12 Thiotepa Approved Phase 2,Phase 1 52-24-4 5453
13
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
14
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
15
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
16
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
17
rituximab Approved Phase 2 174722-31-7 10201696
18
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
19
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
20
Zinc Approved Phase 1, Phase 2 7440-66-6 32051 23994
21
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
22
Mesna Approved Phase 2 3375-50-6 598
23 Tocopherol Approved, Nutraceutical Phase 2
24
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
25 tannic acid Approved, Nutraceutical Phase 2
26 Alkylating Agents Phase 2
27 Antilymphocyte Serum Phase 2
28 Antirheumatic Agents Phase 2,Phase 1
29 Immunosuppressive Agents Phase 2,Phase 1
30 Methylprednisolone acetate Phase 2
31 Methylprednisolone Hemisuccinate Phase 2
32 Prednisolone acetate Phase 2
33 Prednisolone hemisuccinate Phase 2
34 Prednisolone phosphate Phase 2
35 Antifungal Agents Phase 1, Phase 2
36 Anti-Infective Agents Phase 1, Phase 2
37 Antimetabolites Phase 1, Phase 2
38 Antimetabolites, Antineoplastic Phase 1, Phase 2
39 Calcineurin Inhibitors Phase 1, Phase 2
40 Cyclosporins Phase 1, Phase 2
41 Dermatologic Agents Phase 1, Phase 2
42 N-monoacetylcystine Phase 2
43 Thioctic Acid Phase 2
44 Tocopherols Phase 2
45 Tocotrienols Phase 2
46 Vitamins Phase 2
47 Nucleic Acid Synthesis Inhibitors Phase 2
48 Antibodies, Monoclonal Phase 1, Phase 2
49 Hypoglycemic Agents Phase 1, Phase 2
50 insulin Phase 1, Phase 2

Interventional clinical trials:

(show all 34)

id Name Status NCT ID Phase Drugs
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 laronidase
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 Laronidase ERT
9 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
10 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
11 Immune Tolerance Study With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2 Cyclosporine A (CsA);Azathioprine (Aza)
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 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
14 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
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 AGT-181
16 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
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 AGT-181
19 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
20 Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD) Withdrawn NCT02715505 Phase 1, Phase 2 Umbilical cord blood transplantation with HSC835
21 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
22 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
23 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
24 Intrathecal Enzyme Replacement for Hurler Syndrome Active, not recruiting NCT00638547 Phase 1 IRT Laronidase
25 Administration of IV Laronidase Post Bone Marrow Transplant in Hurler Active, not recruiting NCT01173016 Phase 1 Laronidase
26 Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I Active, not recruiting NCT02371226 Phase 1 AGT-181 (HIRMAb-IDUA)
27 Effects of Growth Hormone in Chronically Ill Children Unknown status NCT00286689 Growth Hormone
28 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
29 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
30 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Completed NCT00852358 laronidase
31 Biomarker for Patients With Hurler Disease or High-grade Suspicion for Hurler Disease Recruiting NCT02298712
32 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
33 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
34 Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome Active, not recruiting NCT01572636 Laronidase

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, Brain, Bone Marrow, Tonsil, Heart, Trachea, Tongue

Publications for Mucopolysaccharidosis Ih

Articles related to Mucopolysaccharidosis Ih:

id Title Authors Year
1
Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome]. ( 28755358 )
2017
2
Clinical, confocal, and morphological investigations on the cornea in human mucopolysaccharidosis IH-S. ( 24212765 )
2014
3
Sinus complications in mucopolysaccharidosis IH/S (Hurler-Scheie syndrome). ( 8444549 )
1993
4
A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH). ( 8477267 )
1993
5
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:

71 (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
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 GRCh38 Chromosome 4, 1001702: 1001706
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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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