Mucopolysaccharidosis type 4

General Information (adopted from Orphanet):

Synonyms, Signs: Morquio disease
Number of Symptoms 41
OrphanetNr: 582
OMIM Id: 252300
253000
253010
ICD-10: E76.2
UMLs: C0026707
C0086651
MeSH: D009085
MedDRA: 10028095
Snomed: 130197005
378007
7259005

Prevalence, inheritance and age of onset:

Prevalence: 0.4 of 100 000 [Orphanet]
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
Metabolic disease with corneal opacity
 -Rare eye disease
 -Rare genetic disease
Mucopolysaccharidosis
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
2
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
3
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
4
 (HPO:0005723) Shoe-shaped sella turcica 2 / 7739
5
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
6
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
7
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
8
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
9
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
10
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
11
 (HPO:0007957) Corneal opacity 84 / 7739
12
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
13
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
16
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
17
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
18
 (HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
19
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
20
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
21
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
22
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
23
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
24
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
25
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
26
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
27
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
28
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
29
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
30
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
31
 (HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
32
 (HPO:0003416) Spinal canal stenosis Frequent [Orphanet] 28 / 7739
33
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739
34
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
35
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
36
 (HPO:0003510) Severe short stature 90 / 7739
37
 (HPO:0001654) Abnormality of the heart valves Frequent [Orphanet] 49 / 7739
38
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [Orphanet] 17 / 7739
39
 (HPO:0003610) Fibroblast metachromasia 3 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: