Mucopolysaccharidosis type 3

General Information (adopted from Orphanet):

Synonyms, Signs: MPS III
Mucopolysaccharidosis type III
Sanfilippo disease
Number of Symptoms 45
OrphanetNr: 581
OMIM Id: 252900
252920
252930
252940
ICD-10: E76.2
UMLs: C0026706
C0086648
MeSH: D009084
MedDRA: 10056890
Snomed: 59990008
88393000

Prevalence, inheritance and age of onset:

Prevalence: 0.87 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal disease with epilepsy
 -Rare neurologic disease
Lysosomal storage disease with skeletal involvement
 -Rare bone disease
 -Rare genetic disease
Mucopolysaccharidosis
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002159) Heparan sulfate excretion in urine 12 / 7739
2
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
3
 (HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
4
 (HPO:0000280) Coarse facial features 189 / 7739
5
 (HPO:0000250) Dense calvaria 6 / 7739
6
 (HPO:0000664) Synophrys 112 / 7739
7
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
8
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
9
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
10
 (HPO:0000389) Chronic otitis media Very frequent [Orphanet] 64 / 7739
11
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
12
 (HPO:0000752) Hyperactivity 140 / 7739
13
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
14
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
15
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 230 / 7739
16
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
17
 (HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
20
 (HPO:0003309) Ovoid thoracolumbar vertebrae 6 / 7739
21
 (HPO:0000943) Dysostosis multiplex 22 / 7739
22
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
23
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
24
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
25
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
26
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
27
 (HPO:0000900) Thickened ribs 9 / 7739
28
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
29
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
30
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739
31
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
32
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
33
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
34
 (HPO:0002014) Diarrhea 225 / 7739
35
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
36
 (HPO:0001507) Growth abnormality 36 / 7739
37
 (HPO:0002208) Coarse hair Very frequent [Orphanet] 58 / 7739
38
 (HPO:0001007) Hirsutism 91 / 7739
39
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
40
 (HPO:0001670) Asymmetric septal hypertrophy 19 / 7739
41
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [Orphanet] 17 / 7739
42
 (HPO:0001600) Abnormality of the larynx Frequent [Orphanet] 15 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: