Hurler syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MPS1-H
MPS1H
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH
Number of Symptoms 220
OrphanetNr: 93473
OMIM Id: 607014
ICD-10: E76.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.76 of 100 000 - PMID: 18796143 [IBIS]
Inheritance: Autosomal recessive
- PMID: 813180 [IBIS]
Age of onset: Neonatal
Infancy
- PMID: 24675674 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal disease with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Lysosomal disease with restrictive cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Mucopolysaccharidosis type 1
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Mucopolysaccharidosis type I (MPS I) is a panethnic, chronic and progressive, autosomal recessive lysosomal storage disease in which degradation of the glycoaminoglycans (GAGs) dermatan and heparan sulphate is deficient. Currently three clinical syndromes are often referred to which, from severe through intermediate to mild phenotypes, are termed Hurler, Hurler-Scheie and Scheie. It is clear however that this is an oversimplification and that the full phenotypic spectrum of disease forms a continuum (PMID:18796143).

Symptom Information: Sort by abundance 

1
 (HPO:0001538) Protuberant abdomen 3922223 IBIS 36 / 7739
2
 (HPO:0002027) Abdominal pain 19117856 IBIS 184 / 7739
3
 (HPO:0002019) Constipation 19117856 IBIS 194 / 7739
4
 (HPO:0002014) Diarrhea 19117856 IBIS 225 / 7739
5
 (HPO:0011968) Feeding difficulties 813180 IBIS 240 / 7739
6
 (HPO:0002013) Vomiting 813180 IBIS 191 / 7739
7
 (HPO:0000316) Hypertelorism 813180; 25134498 IBIS 644 / 7739
8
 (HPO:0000520) Proptosis 813180 IBIS 192 / 7739
9
 (HPO:0000586) Shallow orbits 25134498 IBIS 23 / 7739
10
 (HPO:0001131) Corneal dystrophy 22074387 IBIS 56 / 7739
11
 (HPO:0007957) Corneal opacity Frequent [IBIS] 24675674; 19117856; 813180; 25134498; 23531928; 22074387; 3922223 IBIS 84 / 7739
12
 (HPO:0000546) Retinal degeneration 19117856 IBIS 61 / 7739
13
 (HPO:0000496) Abnormality of eye movement 19117856 IBIS 79 / 7739
14
 (HPO:0000577) Exotropia 813180; 3922223 IBIS 43 / 7739
15
 (HPO:0000662) Nyctalopia 19117856 IBIS 92 / 7739
16
 (HPO:0007994) Peripheral visual field loss 19117856 IBIS 13 / 7739
17
 (HPO:0000572) Visual loss 19117856 IBIS 272 / 7739
18
 (HPO:0000529) Progressive visual loss 19117856; 813180 IBIS 54 / 7739
19
 (HPO:0000501) Glaucoma Rare [IBIS] Frequent [Orphanet] 24675674; 19117856 IBIS 180 / 7739
20
 (HPO:0002099) Asthma Occasional [IBIS] 24675674; 19117856 IBIS 62 / 7739
21
 (HPO:0002093) Respiratory insufficiency 19117856 IBIS 410 / 7739
22
 (HPO:0002094) Dyspnea 22074387 IBIS 132 / 7739
23
 (HPO:0002090) Pneumonia 813180 IBIS 59 / 7739
24
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 19117856; 23531928; 3922223 IBIS 254 / 7739
25
 (HPO:0002788) Recurrent upper respiratory tract infections 813180 IBIS 31 / 7739
26
 (HPO:0012384) Rhinitis 3922223 IBIS 18 / 7739
27
 (HPO:0002257) Chronic rhinitis 19117856 IBIS 10 / 7739
28
 (HPO:0002091) Restrictive ventilatory defect 19117856 IBIS 46 / 7739
29
 (HPO:0002777) Tracheal stenosis 19117856 IBIS 35 / 7739
30
 (HPO:0004322) Short stature Frequent [Orphanet] 24675674; 19117856; 813180; 25134498; 22074387 IBIS 1232 / 7739
31
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 22074387 IBIS 492 / 7739
32
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [IBIS] Very frequent [Orphanet] 23531928; 22074387 IBIS 17 / 7739
33
 (HPO:0008301) Dermatan sulfate excretion in urine 813180; 3922223 IBIS 8 / 7739
34
 (HPO:0002159) Heparan sulfate excretion in urine 813180; 3922223 IBIS 12 / 7739
35
 (HPO:0004371) Abnormality of glycosaminoglycan metabolism 19117856 IBIS 3 / 7739
36
 (HPO:0003541) Urinary glycosaminoglycan excretion 19117856; 813180 IBIS 6 / 7739
37
 (HPO:0001640) Cardiomegaly 813180; 22074387 IBIS 81 / 7739
38
 (HPO:0001712) Left ventricular hypertrophy 813180 IBIS 76 / 7739
39
 (HPO:0001648) Cor pulmonale Rare [IBIS] 24675674; 19117856 IBIS 16 / 7739
40
 (HPO:0001633) Abnormality of the mitral valve 19117856; 25134498; 22074387 IBIS 69 / 7739
41
 (HPO:0001653) Mitral regurgitation 19117856; 22074387 IBIS 64 / 7739
42
 (HPO:0001654) Abnormality of the heart valves Frequent [IBIS] Very frequent [Orphanet] 24675674; 19117856 IBIS 49 / 7739
43
 (HPO:0001646) Abnormality of the aortic valve 19117856; 25134498 IBIS 55 / 7739
44
 (HPO:0001659) Aortic regurgitation 19117856; 813180 IBIS 36 / 7739
45
 (HPO:0001638) Cardiomyopathy Occasional [IBIS] Very frequent [Orphanet] 24675674; 19117856; 813180; 25134498 IBIS 192 / 7739
46
 (HPO:0011675) Arrhythmia 19117856 IBIS 226 / 7739
47
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 19117856 IBIS 58 / 7739
48
 (HPO:0001635) Congestive heart failure Rare [IBIS] 24675674; 19117856 IBIS 232 / 7739
49
 (HPO:0000822) Hypertension Frequent [Orphanet] 19117856 IBIS 224 / 7739
50
 (HPO:0001658) Myocardial infarction 19117856 IBIS 30 / 7739
51
 (HPO:0004356) Abnormality of lysosomal metabolism 23531928; 22074387 IBIS 6 / 7739
52
 (HPO:0100540) Palpebral edema 25134498 IBIS 31 / 7739
53
 (HPO:0000403) Recurrent otitis media 19117856; 813180 IBIS 61 / 7739
54
 (HPO:0001987) Hyperammonemia 813180 IBIS 50 / 7739
55
 (HPO:0003202) Skeletal muscle atrophy 25134498 IBIS 281 / 7739
56
 (HPO:0000158) Macroglossia Frequent [IBIS] Frequent [Orphanet] 24675674; 19117856; 813180; 25134498; 23531928; 22074387; 3922223 IBIS 119 / 7739
57
 (HPO:0010808) Protruding tongue 25134498 IBIS 28 / 7739
58
 (HPO:0003698) Difficulty standing 25134498 IBIS 8 / 7739
59
 (MedDRA:10007697) Carpal tunnel syndrome Occasional [IBIS] 24675674 IBIS 16 / 7739
60
 (HPO:0002301) Hemiplegia 813180 IBIS 42 / 7739
61
 (HPO:0000708) Behavioral abnormality 19117856 IBIS 212 / 7739
62
 (HPO:0001268) Mental deterioration 24675674 IBIS 88 / 7739
63
 (HPO:0001263) Global developmental delay 19117856; 813180; 25134498; 22074387 IBIS 853 / 7739
64
 (HPO:0011344) Severe global developmental delay 24675674 IBIS 46 / 7739
65
 (HPO:0001249) Intellectual disability 813180; 25134498; 3922223 IBIS 1089 / 7739
66
 (HPO:0002187) Intellectual disability, profound 23531928 IBIS 44 / 7739
67
 (HPO:0002360) Sleep disturbance Frequent [IBIS] Frequent [Orphanet] 24675674 IBIS 113 / 7739
68
 (HPO:0002870) Obstructive sleep apnea 19117856 IBIS 16 / 7739
69
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 24675674 IBIS 230 / 7739
70
 (HPO:0000750) Delayed speech and language development 22074387 IBIS 197 / 7739
71
 (HPO:0002463) Language impairment 19117856 IBIS 15 / 7739
72
 (HPO:0002540) Inability to walk 25134498 IBIS 19 / 7739
73
 (HPO:0002315) Headache 813180 IBIS 175 / 7739
74
 (HPO:0002857) Genu valgum Occasional [IBIS] 24675674; 19117856; 813180 IBIS 144 / 7739
75
 (HPO:0006371) Broad long bone diaphyses 813180 IBIS 2 / 7739
76
 (HPO:0100490) Camptodactyly of finger 813180 IBIS 212 / 7739
77
 (HPO:0009769) Bullet-shaped phalanges of the hand 813180; 25134498 IBIS 2 / 7739
78
 (HPO:0001840) Metatarsus adductus 813180 IBIS 49 / 7739
79
 (HPO:0006429) Broad femoral neck 813180 IBIS 18 / 7739
80
 (HPO:0002673) Coxa valga 813180; 25134498; 22074387 IBIS 57 / 7739
81
 (HPO:0002812) Coxa vara 813180 IBIS 58 / 7739
82
 (HPO:0008103) Delayed tarsal ossification 25134498 IBIS 3 / 7739
83
 (HPO:0001761) Pes cavus Occasional [IBIS] 24675674 IBIS 225 / 7739
84
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 25134498 IBIS 123 / 7739
85
 (HPO:0002869) Flared iliac wings 813180; 25134498 IBIS 20 / 7739
86
 (HPO:0000946) Hypoplastic ilia 25134498 IBIS 21 / 7739
87
 (HPO:0100865) Broad ischia 25134498 IBIS 4 / 7739
88
 (HPO:0003172) Abnormality of the pubic bone 25134498 IBIS 5 / 7739
89
 (HPO:0001385) Hip dysplasia Occasional [IBIS] 24675674; 19117856 IBIS 242 / 7739
90
 (HPO:0003015) Flared metaphysis 25134498 IBIS 44 / 7739
91
 (HPO:0001216) Delayed ossification of carpal bones 25134498 IBIS 30 / 7739
92
 (HPO:0005922) Abnormal hand morphology 25134498 IBIS 6 / 7739
93
 (HPO:0004052) Delayed ossification of the hand bones 813180 IBIS 1 / 7739
94
 (HPO:0003020) Enlargement of the wrists 813180 IBIS 9 / 7739
95
 (HPO:0006119) Proximal tapering of metacarpals 813180 IBIS 3 / 7739
96
 (HPO:0001171) Split hand 23531928 IBIS 72 / 7739
97
 (HPO:0002987) Elbow flexion contracture 25134498 IBIS 64 / 7739
98
 (HPO:0003871) Deformed humerus 25134498 IBIS 1 / 7739
99
 (HPO:0000929) Abnormality of the skull 25134498 IBIS 53 / 7739
100
 (HPO:0000347) Micrognathia 25134498 IBIS 426 / 7739
101
 (HPO:0003778) Short mandibular rami 25134498 IBIS 7 / 7739
102
 (HPO:0007628) Mandibular condyle hypoplasia 25134498 IBIS 4 / 7739
103
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 813180; 22074387 IBIS 144 / 7739
104
 (HPO:0002680) J-shaped sella turcica 813180 IBIS 15 / 7739
105
 (HPO:0002690) Large sella turcica 813180 IBIS 12 / 7739
106
 (HPO:0002694) Sclerosis of skull base 813180 IBIS 10 / 7739
107
 (HPO:0002737) Thick skull base 813180 IBIS 3 / 7739
108
 (HPO:0001363) Craniosynostosis 25134498 IBIS 132 / 7739
109
 (HPO:0004442) Sagittal craniosynostosis 813180 IBIS 16 / 7739
110
 (HPO:0002084) Encephalocele 813180 IBIS 70 / 7739
111
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 3922223 IBIS 366 / 7739
112
 (HPO:0000256) Macrocephaly 19117856; 25134498; 22074387; 3922223 IBIS 298 / 7739
113
 (HPO:0011220) Prominent forehead 813180; 25134498 IBIS 137 / 7739
114
 (HPO:0002684) Thickened calvaria 813180; 25134498 IBIS 32 / 7739
115
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 813180; 25134498 IBIS 146 / 7739
116
 (HPO:0000907) Anterior rib cupping 25134498 IBIS 12 / 7739
117
 (HPO:0000904) Flaring of rib cage 813180 IBIS 4 / 7739
118
 (HPO:0000768) Pectus carinatum 25134498 IBIS 136 / 7739
119
 (HPO:0000884) Prominent sternum 25134498 IBIS 11 / 7739
120
 (HPO:0003423) Thoracolumbar kyphoscoliosis 3922223 IBIS 4 / 7739
121
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 25134498 IBIS 172 / 7739
122
 (HPO:0004568) Beaking of vertebral bodies 23531928 IBIS 19 / 7739
123
 (HPO:0003311) Hypoplasia of the odontoid process 23531928 IBIS 34 / 7739
124
 (HPO:0002947) Cervical kyphosis 25134498 IBIS 6 / 7739
125
 (HPO:0008434) Hypoplastic cervical vertebrae 23531928 IBIS 4 / 7739
126
 (HPO:0003308) Cervical subluxation 19117856 IBIS 6 / 7739
127
 (HPO:0000470) Short neck Very frequent [Orphanet] 25134498; 22074387; 3922223 IBIS 345 / 7739
128
 (HPO:0008454) Lumbar kyphosis 19117856; 25134498; 3922223 IBIS 3 / 7739
129
 (HPO:0004621) Enlarged vertebral pedicles 813180 IBIS 2 / 7739
130
 (HPO:0003414) Atlantoaxial dislocation 23531928 IBIS 5 / 7739
131
 (HPO:0003418) Back pain 19117856 IBIS 17 / 7739
132
 (HPO:0002808) Kyphosis Frequent [IBIS] 24675674; 19117856; 813180; 25134498 IBIS 289 / 7739
133
 (HPO:0002751) Kyphoscoliosis 19117856 IBIS 131 / 7739
134
 (HPO:0002938) Lumbar hyperlordosis 813180 IBIS 73 / 7739
135
 (HPO:0002650) Scoliosis Occasional [IBIS] Frequent [Orphanet] 24675674; 19117856; 813180; 25134498 IBIS 705 / 7739
136
 (HPO:0000938) Osteopenia 19117856; 25134498 IBIS 138 / 7739
137
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 24675674; 19117856; 22074387 IBIS 322 / 7739
138
 (HPO:0005198) Stiff interphalangeal joints 813180 IBIS 2 / 7739
139
 (HPO:0011729) Abnormality of joint mobility 22074387 IBIS 2 / 7739
140
 (HPO:0001376) Limitation of joint mobility 19117856; 813180; 25134498; 3922223; 3922223 IBIS 27 / 7739
141
 (HPO:0003040) Arthropathy 19117856 IBIS 19 / 7739
142
 (HPO:0000940) Abnormal diaphysis morphology Frequent [Orphanet] 25134498 IBIS 41 / 7739
143
 (HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 25134498 IBIS 119 / 7739
144
 (HPO:0000943) Dysostosis multiplex Frequent [IBIS] 24675674; 19117856; 813180; 25134498; 22074387; 3922223 IBIS 22 / 7739
145
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 25134498; 25134498; 22074387 IBIS 113 / 7739
146
 (HPO:0000664) Synophrys 813180; 3922223 IBIS 112 / 7739
147
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 25134498 IBIS 96 / 7739
148
 (HPO:0000527) Long eyelashes 25134498 IBIS 46 / 7739
149
 (HPO:0002230) Generalized hirsutism 813180 IBIS 32 / 7739
150
 (HPO:0001007) Hirsutism 813180 IBIS 91 / 7739
151
 (HPO:0000998) Hypertrichosis 23531928 IBIS 52 / 7739
152
 (HPO:0002245) Meckel diverticulum 3922223 IBIS 12 / 7739
153
 (HPO:0002910) Elevated hepatic transaminases 813180 IBIS 158 / 7739
154
 (HPO:0002240) Hepatomegaly Frequent [IBIS] Very frequent [Orphanet] 24675674 IBIS 467 / 7739
155
 (HPO:0001433) Hepatosplenomegaly 19117856; 813180; 25134498; 22074387; 3922223 IBIS 78 / 7739
156
 (HPO:0001744) Splenomegaly Frequent [IBIS] Very frequent [Orphanet] 24675674; 22074387 IBIS 337 / 7739
157
 (HPO:0001540) Diastasis recti 813180 IBIS 23 / 7739
158
 (HPO:0001537) Umbilical hernia 19117856; 813180; 22074387; 3922223 IBIS 206 / 7739
159
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 19117856; 813180; 22074387 IBIS 176 / 7739
160
 (HPO:0000023) Inguinal hernia 19117856; 813180 IBIS 181 / 7739
161
 (HPO:0001626) Abnormality of the cardiovascular system 22074387 IBIS 73 / 7739
162
 (HPO:0001999) Abnormal facial shape 25134498; 22074387 IBIS 169 / 7739
163
 (HPO:0000280) Coarse facial features Frequent [IBIS] Very frequent [Orphanet] 24675674; 19117856; 813180; 25134498; 23531928; 22074387; 3922223 IBIS 189 / 7739
164
 (HPO:0200095) Anterior open bite 25134498 IBIS 8 / 7739
165
 (HPO:0000336) Prominent supraorbital ridges 25134498 IBIS 45 / 7739
166
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 813180; 25134498; 22074387; 3922223 IBIS 115 / 7739
167
 (HPO:0000168) Abnormality of the gingiva 19117856 IBIS 51 / 7739
168
 (HPO:0000212) Gingival overgrowth 813180; 25134498 IBIS 43 / 7739
169
 (HPO:0000230) Gingivitis 3922223 IBIS 31 / 7739
170
 (HPO:0002705) High, narrow palate 25134498 IBIS 308 / 7739
171
 (HPO:0000164) Abnormality of the teeth 19117856; 813180; 22074387 IBIS 291 / 7739
172
 (HPO:0000682) Abnormality of dental enamel 19117856; 25134498 IBIS 102 / 7739
173
 (HPO:0011080) Abnormality of premolar morphology 25134498 IBIS 1 / 7739
174
 (HPO:0000698) Conical tooth 25134498 IBIS 14 / 7739
175
 (HPO:0000685) Hypoplasia of teeth 25134498 IBIS 12 / 7739
176
 (HPO:0000670) Carious teeth 19117856 IBIS 145 / 7739
177
 (HPO:0000684) Delayed eruption of teeth 25134498 IBIS 117 / 7739
178
 (HPO:0000687) Widely spaced teeth 25134498; 3922223 IBIS 40 / 7739
179
 (HPO:0000343) Long philtrum 25134498 IBIS 262 / 7739
180
 (HPO:0000154) Wide mouth 25134498 IBIS 137 / 7739
181
 (HPO:0000454) Flared nostrils 25134498 IBIS 11 / 7739
182
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 813180 IBIS 305 / 7739
183
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 813180; 25134498; 23531928 IBIS 381 / 7739
184
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 3922223 IBIS 290 / 7739
185
 (HPO:0000445) Wide nose 3922223 IBIS 190 / 7739
186
 (HPO:0000407) Sensorineural hearing impairment 19117856 IBIS 524 / 7739
187
 (HPO:0100765) Abnormality of the tonsils Occasional [IBIS] Very frequent [Orphanet] 24675674; 19117856; 22074387 IBIS 10 / 7739
188
 (HPO:0000405) Conductive hearing impairment 19117856 IBIS 164 / 7739
189
 (HPO:0004452) Abnormality of the middle ear ossicles 19117856 IBIS 26 / 7739
190
 (HPO:0009748) Large earlobe 25134498 IBIS 27 / 7739
191
 (HPO:0002086) Abnormality of the respiratory system 22074387 IBIS 17 / 7739
192
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 19117856 IBIS 114 / 7739
193
 (HPO:0000951) Abnormality of the skin 25134498 IBIS 147 / 7739
194
 (HPO:0000958) Dry skin 25134498 IBIS 152 / 7739
195
 (HPO:0000980) Pallor 25134498 IBIS 52 / 7739
196
 (HPO:0001051) Seborrheic dermatitis 813180 IBIS 25 / 7739
197
 (HPO:0001072) Thickened skin 813180 IBIS 87 / 7739
198
 (HPO:0005462) Calcification of falx cerebri 25134498 IBIS 6 / 7739
199
 (HPO:0001371) Flexion contracture 24675674 IBIS 220 / 7739
200
 (HPO:0002828) Multiple joint contractures Frequent [IBIS] 24675674 IBIS 16 / 7739
201
 (HPO:0010307) Stridor 25134498 IBIS 19 / 7739
202
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 19117856 IBIS 539 / 7739
203
 (HPO:0001730) Progressive hearing impairment 813180; 23531928 IBIS 29 / 7739
204
 (HPO:0100790) Hernia Frequent [IBIS] 24675674; 19117856 IBIS 9 / 7739
205
 (HPO:3000078) Abnormality of mandible coronoid process 25134498 IBIS 1 / 7739
206
 (HPO:3000003) Abnormality of mandibular ramus 25134498 IBIS 1 / 7739
207
 (HPO:0040090) Abnormality of the tympanic membrane 19117856 IBIS 3 / 7739
208
 (HPO:0002318) Cervical myelopathy 23531928 IBIS 10 / 7739
209
 (HPO:0001334) Communicating hydrocephalus 19117856 IBIS 32 / 7739
210
 (HPO:0003819) Death in childhood 22074387 IBIS 42 / 7739
211
 (HPO:0030148) Heart murmur 813180; 3922223 IBIS 29 / 7739
212
 (HPO:0030043) Hip Subluxation 19117856; 25134498 IBIS 9 / 7739
213
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 25134498 IBIS 278 / 7739
214
 (HPO:0040261) Increased size of nasopharyngeal adenoids 19117856 IBIS 4 / 7739
215
 (HPO:0002196) Myelopathy Occasional [IBIS] 24675674 IBIS 6 / 7739
216
 (HPO:0040083) Toe walking Rare [IBIS] 24675674 IBIS 15 / 7739
217
 (MedDRA:10000007) 17 ketosteroids urine decreased 813180 IBIS 1 / 7739
218
 (MedDRA:10041235) Snoring Frequent [IBIS] 24675674; 19117856 IBIS 8 / 7739
219
 (OMIM) Enlarged tonsils Occasional [IBIS] 24675674 IBIS 3 / 7739
220
 (OMIM) Inability to stand 25134498 IBIS 2 / 7739

Associated genes:

IDUA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
IDUA rs121965019 pathogenic RCV000012683.27
IDUA rs121965020 pathogenic RCV000012684.27
IDUA rs121965021 pathogenic RCV000012685.16
IDUA rs121965022 pathogenic RCV000012689.14
IDUA rs121965023 pathogenic RCV000012690.16
IDUA rs121965024 pathogenic RCV000012691.16
IDUA rs121965025 pathogenic RCV000012692.21
IDUA rs121965027 pathogenic RCV000173657.1
IDUA rs121965029 pathogenic RCV000169784.3
IDUA rs121965033 pathogenic RCV000012703.15
IDUA rs199794428 pathogenic RCV000012686.22
IDUA rs199801029 pathogenic RCV000180108.1
IDUA rs200726100 pathogenic RCV000178733.1
IDUA rs368454909 pathogenic RCV000180110.1
IDUA rs398123254 pathogenic RCV000180476.1
IDUA rs398123256 pathogenic RCV000173987.1
IDUA rs398123258 pathogenic RCV000174452.1
IDUA rs398123259 pathogenic RCV000175551.1
IDUA rs398123260 pathogenic RCV000173083.1
IDUA rs587779401 pathogenic RCV000087088.1
IDUA rs727503966 pathogenic RCV000175549.1
IDUA rs727503967 pathogenic RCV000173986.1
IDUA rs786200915 pathogenic RCV000012696.24
IDUA rs794726877 pathogenic RCV000173082.1
IDUA rs794727017 likely pathogenic RCV000173985.1
IDUA rs794727240 pathogenic RCV000175553.1
IDUA rs794727701 pathogenic RCV000178734.1
IDUA rs794727840 pathogenic RCV000179734.1

Additional Information:

Description: (OMIM) 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 ...
Diagnosis OMIM - Biochemical Diagnosis

The earliest diagnostic tests for the MPS disorders were based on the urinary excretion of glycosaminoglycans. Pennock (1976) noted several methods that had been developed from semiquantitative spot tests to more precise qualitative ...
Clinical Description OMIM The clinical features of Hurler syndrome include coarse facies, corneal clouding, mental retardation, hernias, dysostosis multiplex, and hepatosplenomegaly. Children with Hurler syndrome appear normal at birth and develop the characteristic appearance over the first years of life (Wraith ...
Molecular genetics OMIM Bunge et al. (1995) identified 13 novel and 7 previously reported mutations of the IDUA gene, covering 88% of mutant alleles and 86% of genotypes, in a total of 29 patients with MPS I of differing clinical severity. ...
Population genetics OMIM If the mutation rates are the same and the heterozygotes for the Hurler and Hunter syndromes have no reproductive advantage or disadvantage, the Hunter syndrome should be 1.5 times more frequent among newborns than the Hurler syndrome (McKusick, ...