MPS1H
MCID: HRL003
MIFTS: 66

Hurler Syndrome (MPS1H)

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

Aliases & Classifications for Hurler Syndrome

MalaCards integrated aliases for Hurler Syndrome:

Name: Hurler Syndrome 57 73 20 58 72 29 6 39
Mucopolysaccharidosis Ih 57 12 20 13 15
Mucopolysaccharidosis Type Ih 57 20 58 72
Mps1-H 57 12 20
Mps1h 20 58 72
Alpha-L-Iduronidase Deficiency 72 70
Mucopolysaccharidosis Type 1h 20 58
Hurler Disease 20 58
Mpsih 20 58
Mucopolysaccharidosis Type I Severe Form 12
Mucopolysaccharidosis Type Ih; Mps1-H 57
L-Iduronidase Deficiency, Hurler Type 12
Dysostosis Multiplex Syndrome 12
Hurler Disease Mps Type 1h 12
Hurler-Pfaundler Syndrome 12
Pfaundler-Hurler Syndrome 70
Mucopolysaccharidosis 1h 72
Mucopolysaccharidosis I 70
Dysostosis Multiplex 12
Hurler's Syndrome 72
Gargoylism 12
Mps Ih 72
Mps-Ih 72

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 20-May-2021)
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:

31
hurler syndrome:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Hurler Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93473 Definition Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. Epidemiology The prevalence of the Hurler subtype of MPS1 is estimated at 1/200,000 in Europe. Clinical description Patients present within the first year of life with musculoskeletal alterations including short stature, dysostosis multiplex, thoracic-lumbar kyphosis, progressive coarsening of the facial features (including large head with bulging frontal bones, depressed nasal bridge with broad nasal tip and anteverted nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion. Developmental delay is usually observed between 12 and 24 months of life and is primarily in the realm of speech with progressive cognitive and sensorial deterioration. Hydrocephaly can occur after the age of two. Diffuse corneal compromise leading to corneal opacity becomes detectable from three years of age onwards. Other manifestations include organomegaly, hernias and hirsutism. Etiology Hurler syndrome is caused by mutations in the IDUA gene (4p16.3) leading to a complete deficiency in the alpha-L-iduronidase enzyme and lysosomal accumulation of dermatan sulfate and heparan sulfate. Diagnostic methods Early diagnosis is difficult as the first clinical manifestations are not specific. Diagnosis is based on detection of increased urinary excretion of heparan and dermatan sulfate and confirmed by demonstration of enzymatic deficiency in leukocytes or fibroblasts. Genetic testing is available. Differential diagnosis Differential diagnoses include the milder form of mucopolysaccharidosis type 1, the Hurler-Scheie syndrome (see this term), although this form is associated with only slight cognitive impairment. Differential diagnoses also include mucopolysaccharidosis type 6 and type 2 and mucolipidosis type 2 (see these terms). Antenatal diagnosis Antenatal diagnosis is possible by measurement of enzymatic activity in cultivated chorionic villus or amniocytes and by genetic testing if the disease-causing mutation is known. Genetic counseling Transmission is autosomal recessive. Genetic counseling and testing should be offered to couples with a positive family history. Management and treatment Management is multidisciplinary. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for patients with Hurler syndrome under 2.5 years of age (and in selected patients over this age limit) as it can prolong survival, preserve neurocognition, and ameliorate some somatic features. HSCT should be performed early in the disease course, before developmental deterioration begins. Enzyme replacement therapy (ERT) with laronidase is recommended for all Hurler patients and is a lifelong therapy which alleviates non neurological symptoms. The early use of ERT has been shown to delay or even prevent the development of some of the clinical features of this condition. Additional management of Hurler syndrome is largely supportive, and includes surgical interventions (e.g. adenotonsillectomy, hernia repair, ventriculoperitoneal shunt, cardiac valve replacement, carpal tunnel release, spinal decompression); physical, occupational, and speech therapies; respiratory support (e.g., continuous positive pressure ventilation with oxygen supplementation); hearing aids; and medications for pain and gastrointestinal disturbances. Prognosis Patients often succumb to the condition in the first decade from respiratory and cardiac complications but ERT and HSCT can improve life expectancy. The timing of diagnosis, and therefore of treatment initiation, is an important factor for the success of both HSCT and laronidase.

MalaCards based summary : Hurler Syndrome, also known as mucopolysaccharidosis ih, is related to mucolipidosis iii gamma and multiple sulfatase deficiency, and has symptoms including joint stiffness An important gene associated with Hurler Syndrome is IDUA (Alpha-L-Iduronidase), and among its related pathways/superpathways are Metabolism and Innate Immune System. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and bone marrow, and related phenotypes are intellectual disability and frontal bossing

Disease Ontology : 12 A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has material basis in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3.

OMIM® : 57 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly... more...

Related Diseases for Hurler Syndrome

Diseases related to Hurler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 171)
# Related Disease Score Top Affiliating Genes
1 mucolipidosis iii gamma 31.9 GNPTG GNPTAB
2 multiple sulfatase deficiency 31.4 SUMF1 GNS GALNS ARSB
3 galactosialidosis 31.3 NEU4 NEU1 IDUA GLB1 GALNS CTSA
4 mucopolysaccharidosis, type vii 31.3 NAGLU IDUA IDS GUSB GNS GALNS
5 hurler-scheie syndrome 31.2 SUMF1 SLC26A1 NAGLU IDUA GALNS FUCA2
6 mucopolysaccharidosis, type vi 31.0 SUMF1 NAGLU IDUA IDS GUSB GNS
7 glycoproteinosis 31.0 NEU4 NEU1 GLB1 GALNS FUCA2 CTSA
8 mucolipidosis ii alpha/beta 30.9 NAGLU IDUA GUSB GNPTG GNPTAB GALNS
9 fucosidosis 30.8 NAGLU MAN2B1 IDUA GLB1 GALNS FUCA2
10 mannosidosis, alpha b, lysosomal 30.7 MAN2B1 IDUA GUSB FUCA2 FUCA1
11 mucolipidosis iii alpha/beta 30.6 NAGLU GUSB GNPTG GNPTAB FUCA2 FUCA1
12 metachromatic leukodystrophy 30.2 SUMF1 IDUA IDS ARSB
13 krabbe disease 30.2 IDUA IDS GLB1 ARSB
14 mucopolysaccharidosis iv 30.2 SUMF1 NAGLU IDUA IDS GUSB GNS
15 gangliosidosis 30.0 NEU1 GLB1 GALNS CTSA
16 mucopolysaccharidoses 29.9 SLC26A1 NAGLU IDUA GUSB ARSB
17 mongolian spot 29.9 NEU1 NAGLU IDUA GLB1
18 tay-sachs disease 29.8 NEU4 NEU1 IDUA IDS GLB1
19 scheie syndrome 29.7 SUMF1 SLC26A1 NAGLU MAN2B1 IDUA IDS
20 morquio syndrome 29.5 NEU1 GUSB GLB1 GALNS CTSA
21 gm1 gangliosidosis 29.1 SUMF1 NEU1 NAGLU IDUA GLB1 GALNS
22 mucopolysaccharidosis, type ii 28.6 SUMF1 NAGLU IDUA IDS GUSB GNS
23 mucopolysaccharidosis, type iiia 28.5 SUMF1 NAGLU IDUA IDS GUSB GNS
24 mucopolysaccharidosis iii 28.3 SUMF1 NAGLU IDUA IDS GUSB GNS
25 lysosomal storage disease 28.1 SUMF1 NEU1 NAGLU MAN2B1 IDUA IDS
26 mucopolysaccharidosis-plus syndrome 27.9 SUMF1 NEU1 NAGLU MAN2B1 IDUA IDS
27 mucolipidosis 27.7 SUMF1 NEU4 NEU1 MAN2B1 IDUA GNPTG
28 macular dystrophy, corneal 11.2
29 neuraminidase deficiency 11.1
30 gm1-gangliosidosis, type i 11.0
31 hydrocephalus, congenital, 1 11.0
32 carpal tunnel syndrome 10.2
33 graft-versus-host disease 10.2
34 hydrocephalus 10.2
35 dysostosis 10.2
36 acute graft versus host disease 10.2
37 leukodystrophy 10.2
38 lysosomal storage disease with skeletal involvement 10.2
39 tarsal tunnel syndrome 10.2 GNPTG GNPTAB
40 tibial neuropathy 10.1 GNPTG GNPTAB
41 adrenoleukodystrophy 10.1
42 autosomal recessive disease 10.1
43 adrenomyeloneuropathy 10.1
44 retinitis pigmentosa 10.1
45 yemenite deaf-blind hypopigmentation syndrome 10.1
46 neuroretinitis 10.1
47 retinitis 10.1
48 mucolipidoses 10.1 GNPTG GNPTAB
49 inguinal hernia 10.1
50 atrophic rhinitis 10.1 NEU1 CTSA

Graphical network of the top 20 diseases related to Hurler Syndrome:



Diseases related to Hurler Syndrome

Symptoms & Phenotypes for Hurler Syndrome

Human phenotypes related to Hurler Syndrome:

58 31 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 large face 58 31 hallmark (90%) Very frequent (99-80%) HP:0100729
4 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
5 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
6 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
8 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
9 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
10 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
11 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
12 abnormal vertebral morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003468
13 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
14 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
15 mucopolysacchariduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0008155
16 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
17 abnormal heart valve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001654
18 hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100790
19 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
20 abnormality of the tonsils 58 31 hallmark (90%) Very frequent (99-80%) HP:0100765
21 cerebral palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100021
22 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
23 cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001638
24 rhinitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012384
25 hypotonia 31 hallmark (90%) HP:0001252
26 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
27 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
28 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
29 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
30 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
31 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
32 hearing impairment 58 31 occasional (7.5%) Frequent (79-30%) HP:0000365
33 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
34 recurrent respiratory infections 58 31 very rare (1%) Frequent (79-30%) HP:0002205
35 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
36 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
37 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
38 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
39 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
40 glaucoma 58 31 occasional (7.5%) Frequent (79-30%) HP:0000501
41 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
42 abnormality of epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005930
43 chronic diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002028
44 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
45 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
46 abnormal diaphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000940
47 narrow pelvis bone 58 31 frequent (33%) Frequent (79-30%) HP:0003275
48 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
49 abnormal clavicle morphology 31 frequent (33%) HP:0000889
50 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

Head And Neck Neck:
short neck

Abdomen Liver:
hepatomegaly

Skeletal:
joint stiffness
dysostosis multiplex
joint contractures

Growth Height:
short stature

Skeletal Pelvis:
coxa valga
flared iliac wings

Skin Nails Hair Hair:
hirsutism

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

Head And Neck Ears:
recurrent ear infections
hearing loss (in some patients)

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

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

Skeletal Limbs:
small femoral heads

Cardiovascular Vascular:
narrow coronary arteries
thickened coronary arteries

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

Abdomen Spleen:
splenomegaly

Genitourinary External Genitalia Male:
inguinal hernia

Abdomen External Features:
umbilical hernia

Head And Neck Face:
full cheeks
coarse face

Cardiovascular Heart:
cardiomyopathy
endocardial fibroelastosis
aortic valve thickening
aortic regurgitation (in some patients)
mitral regurgitation (in some patients)
more
Head And Neck Nose:
broad nasal tip
anteverted nostrils
low nasal bridge

Respiratory Nasopharynx:
enlarged tonsils
enlarged adenoids

Head And Neck Teeth:
small teeth
misaligned teeth

Skeletal Spine:
gibbus
odontoid hypoplasia
dysplastic vertebral bodies

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

Skin Nails Hair Skin:
dermal melanocytosis

Respiratory:
frequent upper and lower respiratory tract infections

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

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

Clinical features from OMIM®:

607014 (Updated 20-May-2021)

UMLS symptoms related to Hurler Syndrome:


joint stiffness

GenomeRNAi Phenotypes related to Hurler Syndrome according to GeneCards Suite gene sharing:

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.81 ARSB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.81 ARSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.81 GALNS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.81 SLC26A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.81 ARSB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.81 ARSB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.81 IDS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.81 SLC26A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.81 GALNS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.81 IDS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.81 GALNS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.81 SLC26A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.81 GALNS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.81 IDS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.81 GALNS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.81 ARSB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.81 SLC26A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.81 SLC26A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.81 ARSB SLC26A1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.81 IDS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.81 IDS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.81 SLC26A1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.81 SLC26A1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.81 SLC26A1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.81 GALNS
26 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.81 GALNS
27 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.81 GALNS IDS SLC26A1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.81 IDS

MGI Mouse Phenotypes related to Hurler Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 ARSB CTSA FUCA1 GALNS GLB1 GNPTAB
2 behavior/neurological MP:0005386 10.4 ARSB CTSA FUCA1 GLB1 GNPTAB GNS
3 homeostasis/metabolism MP:0005376 10.33 ARSB CTSA FUCA1 GALNS GLB1 GNPTAB
4 growth/size/body region MP:0005378 10.32 ARSB CTSA GLB1 GNPTAB GUSB IDS
5 hematopoietic system MP:0005397 10.26 ARSB CTSA GLB1 GNPTAB GNS GUSB
6 cardiovascular system MP:0005385 10.25 ARSB CTSA FUCA1 GNPTAB IDUA MAN2B1
7 craniofacial MP:0005382 10.18 ARSB CTSA GNPTAB GUSB IDS IDUA
8 immune system MP:0005387 10.17 CTSA GLB1 GNPTAB GNS IDS IDUA
9 hearing/vestibular/ear MP:0005377 10.1 ARSB FUCA1 GUSB IDS IDUA MAN2B1
10 integument MP:0010771 10.01 CTSA GNPTAB GUSB IDS IDUA NAGLU
11 liver/biliary system MP:0005370 9.97 CTSA GLB1 IDS IDUA MAN2B1 NAGLU
12 nervous system MP:0003631 9.93 ARSB FUCA1 GLB1 GNPTAB GNS IDS
13 limbs/digits/tail MP:0005371 9.91 ARSB GNPTAB GUSB IDS IDUA PITX1
14 muscle MP:0005369 9.8 ARSB GNPTAB IDS IDUA MAN2B1 NEU1
15 renal/urinary system MP:0005367 9.77 ARSB CTSA FUCA1 GALNS GLB1 GNPTAB
16 skeleton MP:0005390 9.4 ARSB GALNS GLB1 GNPTAB GUSB IDS

Drugs & Therapeutics for Hurler Syndrome

Drugs for Hurler Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4
2 Antibodies Phase 4
3 Hormones Phase 2, Phase 3
4
Mycophenolic acid Approved Phase 2 24280-93-1 446541
5
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
7
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
8
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
9
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
10
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
11
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
12
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
13
tannic acid Approved Phase 2 1401-55-4
14
Mesna Approved, Investigational Phase 2 3375-50-6 598
15
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
16
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
17
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
18
Adalimumab Approved, Experimental Phase 1, Phase 2 331731-18-1 16219006
19
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
20
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
21
Tocopherol Approved, Investigational Phase 2 1406-66-2
22
rituximab Approved Phase 2 174722-31-7 10201696
23
alemtuzumab Approved, Investigational Phase 2 216503-57-0
24
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
25
Busulfan Approved, Investigational Phase 2 55-98-1 2478
26
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
27
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
28 Tocotrienol Investigational Phase 2 6829-55-6
29 Cyclosporins Phase 1, Phase 2
30 Insulin, Globin Zinc Phase 1, Phase 2
31 insulin Phase 1, Phase 2
32 Antibodies, Monoclonal Phase 1, Phase 2
33 Methylprednisolone Acetate Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Antifungal Agents Phase 1, Phase 2
36 Calcineurin Inhibitors Phase 1, Phase 2
37 Dermatologic Agents Phase 1, Phase 2
38 Antimetabolites Phase 1, Phase 2
39 Anti-Bacterial Agents Phase 2
40 Antibiotics, Antitubercular Phase 2
41 Antitubercular Agents Phase 2
42 Antilymphocyte Serum Phase 1, Phase 2
43 Thymoglobulin Phase 1, Phase 2
44 Anti-Inflammatory Agents Phase 1, Phase 2
45 Pharmaceutical Solutions Phase 1, Phase 2
46 Alpha-lipoic Acid Phase 2
47 Tocotrienols Phase 2
48 Vitamins Phase 2
49 N-monoacetylcystine Phase 2
50 Thioctic Acid Phase 2

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Multinational, Open-Label Study of the Effects of Aldurazyme (Laronidase) Treatment on Lactation in Women With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Unknown status NCT00418821 Phase 4
2 A Multicenter, Multinational, Randomized, Dose-Optimization Study of the Safety and Pharmacodynamic Response of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00144781 Phase 4
3 A Multicenter, Multinational, Open-Label Study of Anti-Laronidase Antibody Formation and Urinary GAG Levels in Patients With Mucopolysaccharidosis I (MPS I) Being Treated With Aldurazyme® (Laronidase). Completed NCT00144768 Phase 4 laronidase
4 A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Multinational, Clinical Study of Recombinant Human Alpha L-Iduronidase In Patients With Mucopolysaccharidosis I Completed NCT00912925 Phase 3
5 A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00146770 Phase 3
6 A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00258011 Phase 3
7 Phase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short Stature Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
8 Phase II Study of Combined Laronidase (AldurazymeTM) Enzyme Replacement Therapy (ERT) With Hematopoietic Stem Cell Transplantation (HSCT) for Hurler Syndrome (MPS IH) Completed NCT00176891 Phase 2 Laronidase ERT
9 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
10 A Two-Stage, Phase 1/2, Open-Label Study of the Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome) Completed NCT03053089 Phase 1, Phase 2 AGT-181
11 Pilot Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
12 A Trial of Antigen-specific Immune Tolerance Induction in Mucopolysaccharidosis I (MPS I) Patients Initiating Enzyme Replacement Therapy With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2 Cyclosporine A (CsA);Azathioprine (Aza)
13 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
14 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
15 A Phase II Open-Label Clinical Trial of Recombinant Human Alpha-L-iduronidase (Aldurazyme®) to Evaluate the Safety and Pharmacokinetics in Mucopolysaccharidosis I (MPS I) Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
16 An Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Patients With Mucopolysaccharidosis I Who Were Previously Enrolled in Studies With AGT-181 Completed NCT03071341 Phase 1, Phase 2 AGT-181
17 Phase I/II Study of JR-171 ㏌ Patients With Mucopolysaccharidosis Type I Recruiting NCT04227600 Phase 1, Phase 2 JR-171
18 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
19 A Phase I/II Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of Intracisternal RGX-111 in Subjects With Mucopolysaccharidosis Type I Recruiting NCT03580083 Phase 1, Phase 2
20 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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)
21 Phase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I and II Recruiting NCT03153319 Phase 1, Phase 2 Adalimumab Injection [Humira];Saline Solution for Injection
22 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
23 Phase I/II Study Evaluating Safety and Efficacy of Autologous Hematopoietic Stem and Progenitor Cells Genetically Modified With IDUA Lentiviral Vector Encoding for the Human α-L-iduronidase Gene for the Treatment of Patients Affected by Mucopolysaccharidosis Type I, Hurler Variant Active, not recruiting NCT03488394 Phase 1, Phase 2
24 A Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-318, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis I (MPS I) Active, not recruiting NCT02702115 Phase 1, Phase 2
25 Sleeping Beauty Transposon-Engineered Plasmablasts for Expression and Delivery of Alpha-L-iduronidase in Patients With Hurler Syndrome That Have Previously Undergone Allogeneic Transplantation Not yet recruiting NCT04284254 Phase 1, Phase 2 Autologous Plasmablasts
26 An Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type I Not yet recruiting NCT04453085 Phase 1, Phase 2 JR-171
27 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
28 A Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Adult Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome) Unknown status NCT02371226 Phase 1 AGT-181 (HIRMAb-IDUA)
29 Intrathecal Enzyme Replacement Therapy For Patients With Mucopolysaccharidosis Type I (Hurler Syndrome) Completed NCT00638547 Phase 1 IRT Laronidase
30 Pilot Study of Administration of Intravenous Laronidase Following Allogeneic Transplantation for Hurler Syndrome Completed NCT01173016 Phase 1 Laronidase
31 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
32 An Extension Study of AGT-181-102 Evaluating Safety and Glycosaminoglycans (GAGs) in Adult Patients With Hurler-Scheie or Scheie Syndrome Who Have Completed 8-Weeks of Dosing With AGT-181 in Study AGT-181-102 Completed NCT02597114 Phase 1 AGT-181
33 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
34 An Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00786968 Phase 1 laronidase
35 A Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00215527 Phase 1 laronidase
36 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
37 Magnetic Resonance Spectroscopy (MRS) to Determine Neuroinflammation and Oxidative Stress in MPS I Completed NCT03576729
38 A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I Completed NCT00852358 laronidase
39 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
40 Characterizing the Neurobehavioral Phenotype(s) in MPS III Completed NCT01873911
41 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
42 Behavioral Challenges in Children With Mucopolysaccharidosis Type I-III and Parental Coping Strategies Completed NCT03161171
43 Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products at St. Jude Children's Research Hospital Recruiting NCT00695279
44 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
45 Biomarker for Hurler Disease - An International, Multicenter, Epidemiological Protocol Active, not recruiting NCT02298712
46 Long-Term Follow-up of Subjects Who Were Treated With SB-318, SB-913, or SB-FIX, for Targeted Genome Editing Into the Albumin Gene in the Liver Enrolling by invitation NCT04628871
47 Expanded Access Protocol for CaspaCIDe T Cells From An HLA-Partially Matched Related Donor After Negative Selection of TCR αβ+T Cells In Pediatric Patients Affected by Hematological and Other Disorders No longer available NCT03639844 rimiducid
48 MT2011-21C Laronidase (Aldurazyme TM) Enzyme Replacement Therapy (ERT) With Hematopoietic Stem Cell Transplantation (HSCT) for Hurler Syndrome (MPS IH). Terminated NCT01572636 Laronidase
49 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
50 An Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I Terminated NCT02232477 Intrathecal recombinant human alpha iduronidase

Search NIH Clinical Center for Hurler Syndrome

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Laronidase

Genetic Tests for Hurler Syndrome

Genetic tests related to Hurler Syndrome:

# Genetic test Affiliating Genes
1 Hurler Syndrome 29 IDUA

Anatomical Context for Hurler Syndrome

MalaCards organs/tissues related to Hurler Syndrome:

40
Eye, Bone, Bone Marrow, Brain, Spleen, Spinal Cord, Liver

Publications for Hurler Syndrome

Articles related to Hurler Syndrome:

(show top 50) (show all 592)
# Title Authors PMID Year
1
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. 61 57 6
19396826 2009
2
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. 57 6 61
11159948 2001
3
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. 61 57 6
8664897 1996
4
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. 61 57 6
8680403 1995
5
Hurler syndrome: a patient with abnormally high levels of alpha-L-iduronidase protein. 61 6 57
1627351 1992
6
Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II. 6 57
19748810 2009
7
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. 6 57
11735025 2001
8
Unique frequency of known mutations in Brazilian MPS I patients. 57 6
10607946 2000
9
Mutations among Italian mucopolysaccharidosis type I patients. 6 57
9427149 1997
10
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 6 57
7550242 1995
11
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. 57 6
7951228 1994
12
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. 6 61
31194252 2019
13
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome. 61 6
29843745 2018
14
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. 6 61
27146977 2016
15
Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation. 6 61
27392569 2016
16
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation. 6 61
26825088 2016
17
Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantation. 6 61
25614311 2015
18
Early treatment is associated with improved cognition in Hurler syndrome. 61 57
25103575 2014
19
[Hurler syndrome: early diagnosis and treatment]. 6 61
24698225 2014
20
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. 61 6
24368159 2014
21
Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H). 61 6
21253827 2011
22
Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation. 61 6
19751987 2010
23
Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. 61 57
19396827 2009
24
Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic. 6 61
18463126 2009
25
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). 6 61
17606547 2007
26
The molecular basis of mucopolysaccharidosis type I in two Thai patients. 61 6
16438163 2005
27
Prevention of neuropathology in the mouse model of Hurler syndrome. 61 57
15236403 2004
28
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. 61 6
15081804 2004
29
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation. 61 6
14559116 2003
30
Usefulness of bone marrow transplantation in the Hurler syndrome. 6 61
14516901 2003
31
Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. 57 61
12873889 2003
32
Mucopolysaccharidosis Type I 6 61
20301341 2002
33
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity. 6 61
12189649 2002
34
[Mucopolysaccharidosis type I in Morocco: clinical features and genetic profile]. 61 6
10911525 2000
35
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. 6 61
10466419 1999
36
Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects. 6 61
10738517 1999
37
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union. 6 61
9787109 1998
38
Murine MPS I: insights into the pathogenesis of Hurler syndrome. 61 57
9660052 1998
39
Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. 57 61
9516162 1998
40
Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene. 57 61
9097952 1997
41
Spinal problems in mucopolysaccharidosis I (Hurler syndrome). 57 61
8951011 1996
42
Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow. 61 57
8700879 1996
43
The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). 57 61
7780260 1995
44
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). 6 61
7550232 1995
45
Enzyme replacement in a canine model of Hurler syndrome. 61 57
7809150 1994
46
A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH). 61 6
8019572 1994
47
The mucopolysaccharidoses: characterization by cranial MR imaging. 61 57
8279321 1993
48
Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies. 61 57
7507293 1993
49
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. 6 61
8328452 1993
50
Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings. 57 61
8468655 1993

Variations for Hurler Syndrome

ClinVar genetic disease variations for Hurler Syndrome:

6 (show top 50) (show all 464)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IDUA , SLC26A1 NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) SNV Benign, other 195038 rs58037052 GRCh37: 4:981673-981673
GRCh38: 4:987885-987885
2 IDUA , SLC26A1 NM_000203.5(IDUA):c.246C>G (p.His82Gln) SNV Uncertain significance, other 92637 rs148775298 GRCh37: 4:981684-981684
GRCh38: 4:987896-987896
3 IDUA NM_000203.5(IDUA):c.965T>A (p.Val322Glu) SNV Benign, other 222992 rs76722191 GRCh37: 4:995942-995942
GRCh38: 4:1002154-1002154
4 IDUA , SLC26A1 NM_000203.5(IDUA):c.246C>G (p.His82Gln) SNV Likely benign, other 92637 rs148775298 GRCh37: 4:981684-981684
GRCh38: 4:987896-987896
5 IDUA NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) SNV other 426817 rs183347428 GRCh37: 4:995544-995544
GRCh38: 4:1001756-1001756
6 IDUA , SLC26A1 NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) SNV Pathogenic 11909 rs121965020 GRCh37: 4:981646-981646
GRCh38: 4:987858-987858
7 IDUA NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) SNV Pathogenic 11910 rs121965021 GRCh37: 4:997206-997206
GRCh38: 4:1003418-1003418
8 IDUA NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) SNV Pathogenic 11917 rs121965025 GRCh37: 4:998080-998080
GRCh38: 4:1004292-1004292
9 IDUA NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) SNV Pathogenic 280976 rs121965031 GRCh37: 4:998074-998074
GRCh38: 4:1004286-1004286
10 IDUA NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) SNV Pathogenic 265418 rs148789453 GRCh37: 4:995590-995590
GRCh38: 4:1001802-1001802
11 IDUA NM_000203.5(IDUA):c.386-2A>G SNV Pathogenic 222994 rs777295041 GRCh37: 4:994668-994668
GRCh38: 4:1000880-1000880
12 IDUA , SLC26A1 NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) SNV Pathogenic 222993 rs758452450 GRCh37: 4:981661-981661
GRCh38: 4:987873-987873
13 IDUA NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) SNV Pathogenic 222995 rs869025584 GRCh37: 4:995530-995530
GRCh38: 4:1001742-1001742
14 IDUA NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) SNV Pathogenic 11908 rs121965019 GRCh37: 4:996535-996535
GRCh38: 4:1002747-1002747
15 IDUA NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) SNV Pathogenic 11908 rs121965019 GRCh37: 4:996535-996535
GRCh38: 4:1002747-1002747
16 IDUA NM_000203.5(IDUA):c.876del (p.Asp292fs) Deletion Pathogenic 456720 rs1553917209 GRCh37: 4:995853-995853
GRCh38: 4:1002065-1002065
17 IDUA NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) SNV Pathogenic 11925 rs121965032 GRCh37: 4:996175-996175
GRCh38: 4:1002387-1002387
18 IDUA NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) Deletion Pathogenic 92636 rs398123258 GRCh37: 4:997871-997871
GRCh38: 4:1004083-1004083
19 IDUA NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) SNV Pathogenic 496861 rs772416503 GRCh37: 4:996908-996908
GRCh38: 4:1003120-1003120
20 IDUA NM_000203.5(IDUA):c.936G>A (p.Trp312Ter) SNV Pathogenic 855322 GRCh37: 4:995913-995913
GRCh38: 4:1002125-1002125
21 IDUA , SLC26A1 NM_000203.5(IDUA):c.164dup (p.Leu56fs) Duplication Pathogenic 855487 GRCh37: 4:981596-981597
GRCh38: 4:987808-987809
22 IDUA NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) SNV Pathogenic 222997 rs764196171 GRCh37: 4:996113-996113
GRCh38: 4:1002325-1002325
23 IDUA NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) SNV Pathogenic 11919 rs121965027 GRCh37: 4:996890-996890
GRCh38: 4:1003102-1003102
24 IDUA NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) SNV Pathogenic 496834 rs794727896 GRCh37: 4:996247-996247
GRCh38: 4:1002459-1002459
25 IDUA NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) SNV Pathogenic 11927 rs121965033 GRCh37: 4:996121-996121
GRCh38: 4:1002333-1002333
26 IDUA , SLC26A1 NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) Deletion Pathogenic 92643 rs398123260 GRCh37: 4:980907-980918
GRCh38: 4:987119-987130
27 IDUA , SLC26A1 NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) SNV Pathogenic 222993 rs758452450 GRCh37: 4:981661-981661
GRCh38: 4:987873-987873
28 IDUA NM_000203.5(IDUA):c.386-2A>G SNV Pathogenic 222994 rs777295041 GRCh37: 4:994668-994668
GRCh38: 4:1000880-1000880
29 IDUA NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) Duplication Pathogenic 11921 rs786200915 GRCh37: 4:995488-995489
GRCh38: 4:1001700-1001701
30 IDUA , SLC26A1 NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) SNV Pathogenic 11909 rs121965020 GRCh37: 4:981646-981646
GRCh38: 4:987858-987858
31 IDUA NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) SNV Pathogenic 280976 rs121965031 GRCh37: 4:998074-998074
GRCh38: 4:1004286-1004286
32 IDUA NM_000203.5(IDUA):c.1190-10_*10del Deletion Pathogenic 973582 GRCh37: 4:996510-998191
GRCh38: 4:1002722-1004403
33 IDUA NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter) SNV Pathogenic 1032924 GRCh37: 4:997367-997367
GRCh38: 4:1003579-1003579
34 IDUA NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) SNV Pathogenic 984180 GRCh37: 4:995287-995287
GRCh38: 4:1001499-1001499
35 IDUA NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) SNV Pathogenic 11908 rs121965019 GRCh37: 4:996535-996535
GRCh38: 4:1002747-1002747
36 IDUA , SLC26A1 NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) SNV Pathogenic 11909 rs121965020 GRCh37: 4:981646-981646
GRCh38: 4:987858-987858
37 IDUA NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) SNV Pathogenic 11910 rs121965021 GRCh37: 4:997206-997206
GRCh38: 4:1003418-1003418
38 IDUA NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) SNV Pathogenic 11911 rs11934801 GRCh37: 4:996555-996555
GRCh38: 4:1002767-1002767
39 IDUA NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) SNV Pathogenic 11917 rs121965025 GRCh37: 4:998080-998080
GRCh38: 4:1004292-1004292
40 IDUA NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) Duplication Pathogenic 11921 rs786200915 GRCh37: 4:995488-995489
GRCh38: 4:1001700-1001701
41 IDUA NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) SNV Pathogenic 11927 rs121965033 GRCh37: 4:996121-996121
GRCh38: 4:1002333-1002333
42 IDUA , SLC26A1 NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) SNV Pathogenic 11922 rs121965029 GRCh37: 4:981704-981704
GRCh38: 4:987916-987916
43 IDUA , SLC26A1 NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) SNV Pathogenic 193061 rs794726877 GRCh37: 4:981024-981024
GRCh38: 4:987236-987236
44 IDUA NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) SNV Pathogenic 11919 rs121965027 GRCh37: 4:996890-996890
GRCh38: 4:1003102-1003102
45 IDUA NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) SNV Pathogenic 167190 rs199801029 GRCh37: 4:996063-996063
GRCh38: 4:1002275-1002275
46 IDUA NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) SNV Pathogenic 222997 rs764196171 GRCh37: 4:996113-996113
GRCh38: 4:1002325-1002325
47 IDUA NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) SNV Pathogenic 222995 rs869025584 GRCh37: 4:995530-995530
GRCh38: 4:1001742-1001742
48 IDUA , SLC26A1 NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) SNV Pathogenic 193061 rs794726877 GRCh37: 4:981024-981024
GRCh38: 4:987236-987236
49 IDUA NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) SNV Pathogenic 11910 rs121965021 GRCh37: 4:997206-997206
GRCh38: 4:1003418-1003418
50 IDUA , SLC26A1 NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) SNV Pathogenic 11922 rs121965029 GRCh37: 4:981704-981704
GRCh38: 4:987916-987916

UniProtKB/Swiss-Prot genetic disease variations for Hurler Syndrome:

72 (show all 18)
# 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 rs794727896
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 rs143068187
15 IDUA p.Asp349Tyr VAR_020982
16 IDUA p.Thr103Pro VAR_066217
17 IDUA p.Pro385Arg VAR_066225 rs155391730
18 IDUA p.Val620Phe VAR_072368

Expression for Hurler Syndrome

Search GEO for disease gene expression data for Hurler Syndrome.

Pathways for Hurler Syndrome

Pathways related to Hurler Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 SUMF1 SLC26A1 NEU4 NEU1 NAGLU MAN2B1
2
Show member pathways
13.75 NEU1 MAN2B1 GUSB GNS GLB1 GALNS
3
Show member pathways
12.76 NEU4 NEU1 GLB1 FUCA1 CTSA
4
Show member pathways
12.66 SLC26A1 NAGLU MAN2B1 IDUA IDS GUSB
5
Show member pathways
12.35 NAGLU IDUA IDS GUSB GLB1 ARSB
6
Show member pathways
12.21 SUMF1 NEU4 NEU1 GLB1 CTSA ARSB
7
Show member pathways
12.02 NEU4 NEU1 GLB1 CTSA
8 11.63 SUMF1 NEU1 NAGLU MAN2B1 IDUA IDS
9 10.89 NEU4 NEU1 MAN2B1 GLB1 FUCA2 FUCA1
10
Show member pathways
10.86 NAGLU IDUA IDS GUSB GNS GLB1

GO Terms for Hurler Syndrome

Cellular components related to Hurler Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.07 NEU1 NAGLU MAN2B1 IDUA GUSB GNS
2 extracellular region GO:0005576 10.06 NEU1 MAN2B1 GUSB GNS GNPTG GLB1
3 intracellular membrane-bounded organelle GO:0043231 9.95 NEU4 NEU1 MAN2B1 GUSB GNPTG GLB1
4 azurophil granule lumen GO:0035578 9.81 MAN2B1 GUSB GNS GLB1 GALNS FUCA2
5 lysosomal lumen GO:0043202 9.77 NEU4 NEU1 NAGLU MAN2B1 IDUA IDS
6 ficolin-1-rich granule lumen GO:1904813 9.67 GUSB GNS GLB1 ARSB
7 lysosome GO:0005764 9.47 NEU4 NEU1 NAGLU MAN2B1 IDUA IDS

Biological processes related to Hurler Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.86 NEU4 NEU1 MAN2B1 IDUA GUSB GLB1
2 neutrophil degranulation GO:0043312 9.85 NEU1 MAN2B1 GUSB GNS GLB1 GALNS
3 glycosphingolipid metabolic process GO:0006687 9.72 SUMF1 NEU4 NEU1 GLB1 CTSA
4 lysosome organization GO:0007040 9.63 NAGLU GNPTAB ARSB
5 chondroitin sulfate catabolic process GO:0030207 9.61 IDUA IDS ARSB
6 metabolic process GO:0008152 9.61 NEU4 NEU1 NAGLU MAN2B1 IDUA GUSB
7 keratan sulfate catabolic process GO:0042340 9.58 GNS GLB1 GALNS
8 oligosaccharide catabolic process GO:0009313 9.54 NEU4 NEU1 MAN2B1
9 carbohydrate phosphorylation GO:0046835 9.52 GNPTG GNPTAB
10 ganglioside catabolic process GO:0006689 9.51 NEU4 NEU1
11 fucose metabolic process GO:0006004 9.49 FUCA2 FUCA1
12 glycoside catabolic process GO:0016139 9.48 FUCA2 FUCA1
13 glycosaminoglycan catabolic process GO:0006027 9.17 NAGLU IDUA IDS GUSB GNS GLB1

Molecular functions related to Hurler Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.91 MAN2B1 IDS GNS GALNS ARSB
2 hydrolase activity GO:0016787 9.8 NEU4 NEU1 NAGLU MAN2B1 IDUA IDS
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.58 IDUA GUSB GLB1
4 arylsulfatase activity GO:0004065 9.52 GALNS ARSB
5 exo-alpha-(2->8)-sialidase activity GO:0052796 9.49 NEU4 NEU1
6 exo-alpha-(2->6)-sialidase activity GO:0052795 9.48 NEU4 NEU1
7 exo-alpha-(2->3)-sialidase activity GO:0052794 9.46 NEU4 NEU1
8 sulfuric ester hydrolase activity GO:0008484 9.46 IDS GNS GALNS ARSB
9 exo-alpha-sialidase activity GO:0004308 9.43 NEU4 NEU1
10 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 9.37 GNPTG GNPTAB
11 alpha-L-fucosidase activity GO:0004560 9.32 FUCA2 FUCA1
12 hydrolase activity, acting on glycosyl bonds GO:0016798 9.28 NEU4 NEU1 NAGLU MAN2B1 IDUA GUSB
13 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.26 GALNS ARSB

Sources for Hurler Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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