MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 252700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0008155) Mucopolysacchariduria 6 / 7739
2
 (HPO:0000280) Coarse facial features 189 / 7739
3
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
4
 (HPO:0005187) Progressive joint destruction 2 / 7739
5
 (HPO:0001507) Growth abnormality 36 / 7739
6
 (HPO:0001654) Abnormality of the heart valves 49 / 7739
7
 (HPO:0003610) Fibroblast metachromasia 3 / 7739
8
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism 17 / 7739
9
 (OMIM) Normal intelligence 81 / 7739
10
 (OMIM) Hurler-like facies 1 / 7739
11
 (OMIM) Lipid accumulations in peripheral neurons but not in central neurons 1 / 7739
12
 (OMIM) Mucopolysaccharide accumulations in perichondrium, coronary arteries, aorta, and renal glomerular epithelial cells 1 / 7739
13
 (OMIM) Dwarfed stature 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Alpha-iduronidase deficiency in some cases 1 / 7739
16
 (OMIM) Progressive peripheral annular corneal opacification 1 / 7739
17
 (OMIM) Normal urinary mucopolysaccharide 1 / 7739
18
 (OMIM) Swollen fingers 1 / 7739
19
 (OMIM) Increased fibroblast mucopolysaccharide 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: