Mucolipidosis type 3

General Information (adopted from Orphanet):

Synonyms, Signs: Pseudo-Hurler polydystrophy
Number of Symptoms 46
OrphanetNr: 577
OMIM Id: 252600
252605
ICD-10: E77.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal storage disease with skeletal involvement
 -Rare bone disease
 -Rare genetic disease
Mucolipidosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002680) J-shaped sella turcica 15 / 7739
2
 (HPO:0000303) Mandibular prognathia 179 / 7739
3
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
4
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
5
 (HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
6
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
7
 (HPO:0001363) Craniosynostosis 132 / 7739
8
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
9
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
10
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
11
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
12
 (HPO:0000484) Hyperopic astigmatism 8 / 7739
13
 (HPO:0000546) Retinal degeneration 61 / 7739
14
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
15
 (HPO:0001249) Intellectual disability 1089 / 7739
16
 (HPO:0001328) Specific learning disability 114 / 7739
17
 (HPO:0000773) Short ribs 70 / 7739
18
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
19
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
20
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
21
 (HPO:0003026) Short long bone 51 / 7739
22
 (HPO:0004236) Irregular carpal bones 3 / 7739
23
 (HPO:0002650) Scoliosis 705 / 7739
24
 (HPO:0001171) Split hand 72 / 7739
25
 (HPO:0003182) Shallow acetabular fossae 10 / 7739
26
 (HPO:0001498) Carpal bone hypoplasia 17 / 7739
27
 (HPO:0000885) Broad ribs 21 / 7739
28
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
29
 (HPO:0000943) Dysostosis multiplex 22 / 7739
30
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
31
 (HPO:0006162) Soft tissue swelling of interphalangeal joints 2 / 7739
32
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
33
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
34
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
35
 (HPO:0001072) Thickened skin 87 / 7739
36
 (HPO:0001061) Acne Frequent [Orphanet] 33 / 7739
37
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
38
 (HPO:0001659) Aortic regurgitation 36 / 7739
39
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
40
 (HPO:0001654) Abnormality of the heart valves Occasional [Orphanet] 49 / 7739
41
 (HPO:0003333) Increased serum beta-hexosaminidase 4 / 7739
42
 (HPO:0003538) Increased serum iduronate sulfatase activity 4 / 7739
43
 (HPO:0003264) Deficiency of N-acetylglucosamine-1-phosphotransferase 3 / 7739
44
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
45
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: