Mucopolysaccharidosis type 4A

General Information (adopted from Orphanet):

Synonyms, Signs: MORQUIO SYNDROME A
MPSIVA
MORQUIO A DISEASE
MPS IVA
MPS4A
galactosamine-6-sulfatase deficiency
galns deficiency
N-acetylgalactosamine-6-sulfate sulfatase deficiency
Morquio disease type A
Number of Symptoms 45
OrphanetNr: 309297
OMIM Id: 253000
ICD-10: E76.2
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: Mucopolysaccharidosis type 4
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0012069) Keratan sulfate excretion in urine 3 / 7739
2
(HPO:0012070) Chondroitin sulfate excretion in urine 1 / 7739
3
(HPO:0000280) Coarse facial features 189 / 7739
4
(HPO:0000683) Grayish enamel 2 / 7739
5
(HPO:0000670) Carious teeth 145 / 7739
6
(HPO:0000154) Wide mouth 137 / 7739
7
(HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
8
(HPO:0000303) Mandibular prognathia 179 / 7739
9
(HPO:0000687) Widely spaced teeth 40 / 7739
10
(HPO:0007957) Corneal opacity 84 / 7739
11
(HPO:0007759) Opacification of the corneal stroma 77 / 7739
12
(HPO:0000365) Hearing impairment 539 / 7739
13
(HPO:0003053) Epiphyseal deformities of tubular bones 2 / 7739
14
(HPO:0002650) Scoliosis 705 / 7739
15
(HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
16
(HPO:0002673) Coxa valga 57 / 7739
17
(HPO:0001223) Pointed proximal second through fifth metacarpals 2 / 7739
18
(HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
19
(HPO:0003307) Hyperlordosis 122 / 7739
20
(HPO:0002808) Kyphosis 289 / 7739
21
(HPO:0003277) Constricted iliac wings 2 / 7739
22
(HPO:0001388) Joint laxity 117 / 7739
23
(HPO:0000904) Flaring of rib cage 4 / 7739
24
(HPO:0003049) Ulnar deviation of the wrist 6 / 7739
25
(HPO:0003308) Cervical subluxation 6 / 7739
26
(HPO:0000939) Osteoporosis 129 / 7739
27
(HPO:0002857) Genu valgum 144 / 7739
28
(HPO:0003300) Ovoid vertebral bodies 21 / 7739
29
(HPO:0000926) Platyspondyly 150 / 7739
30
(HPO:0003016) Metaphyseal widening 41 / 7739
31
(HPO:0000884) Prominent sternum 11 / 7739
32
(HPO:0000023) Inguinal hernia 181 / 7739
33
(HPO:0002240) Hepatomegaly 467 / 7739
34
(HPO:0001654) Abnormality of the heart valves 49 / 7739
35
(HPO:0002091) Restrictive ventilatory defect 46 / 7739
36
(HPO:0002318) Cervical myelopathy 10 / 7739
37
(HPO:0003621) Juvenile onset 105 / 7739
38
(OMIM) Adult height 82 to 115 cm 1 / 7739
39
(OMIM) Chondroitin 6-sulfate excretion in urine 1 / 7739
40
(OMIM) Hepatomegaly, mild 8 / 7739
41
(OMIM) N-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes 1 / 7739
42
(OMIM) Mildly coarse facial features 2 / 7739
43
(OMIM) Normal intelligence 81 / 7739
44
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
45
(OMIM) Keratan sulfate excretion in urine that decreases with age 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is ...
Diagnosis OMIM In fibroblasts isolated from affected members of 6 families with Morquio syndrome, Danes and Bearn (1967) found no evidence for metachromasia. In contrast, fibroblasts isolated from patients with other forms of mucopolysaccharidosis did show metachromasia. Danes and Bearn ...
Clinical Description OMIM The first cases of Morquio syndrome were likely reported in a French Canadian brother and sister by Osler (1897) as cases of achondroplasia (ACH; 100800) (see McKusick, 1972, p 583, fig 11-23).

Morquio (1929) in Montevideo, ...

Genotype-Phenotype Correlations OMIM Sukegawa et al. (2000) studied 15 missense mutations and 2 newly engineered active site mutations (C79S, C79T) in the GALNS gene by transient expression analysis. Mutant proteins, except for C79S and C79T, were destabilized and detected as insoluble ...
Molecular genetics OMIM In patients with MPS IVA, Tomatsu et al. (1992) identified 4 different mutations in the GALNS gene (612222.0001-612222.0004).

In 5 unrelated Japanese patients with MPS IVA, Hori et al. (1995) found, in heteroallelic state, 2 separate ...

Population genetics OMIM In British Columbia, between 1952 and 1986, 6 cases of MPS IVA were observed, yielding a frequency of 1 in 216,412 live births (Lowry et al., 1990).

Using multiple ascertainment sources, Nelson et al. (2003) obtained ...