Mucopolysaccharidosis type 6

General Information (adopted from Orphanet):

Synonyms, Signs: MPS VI
N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
MAROTEAUX-LAMY SYNDROME
MPSVI
MPS6
Mucopolysaccharidosis type VI
ASB deficiency
arylsulfatase b deficiency
arsb deficiency
N-acetylgalactosamine 4-sulfatase deficiency
Maroteaux-Lamy disease
Number of Symptoms 73
OrphanetNr: 583
OMIM Id: 253200
ICD-10: E76.2
UMLs: C0026709
MeSH: D009087
MedDRA: 10056892
Snomed: 52677002
69463008

Prevalence, inheritance and age of onset:

Prevalence: 0.16 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:0008301) Dermatan sulfate excretion in urine 8 / 7739
2
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
3
 (HPO:0000256) Macrocephaly 298 / 7739
4
 (HPO:0000246) Sinusitis Very frequent [Orphanet] 73 / 7739
5
 (HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
6
 (HPO:0000158) Macroglossia Occasional [Orphanet] 119 / 7739
7
 (HPO:0000268) Dolichocephaly 144 / 7739
8
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
9
 (HPO:0009928) Thick nasal alae Very frequent [Orphanet] 21 / 7739
10
 (HPO:0005280) Depressed nasal bridge 381 / 7739
11
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
12
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
13
 (HPO:0007957) Corneal opacity 84 / 7739
14
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
15
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
16
 (HPO:0000501) Glaucoma 180 / 7739
17
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
18
 (HPO:0000389) Chronic otitis media Very frequent [Orphanet] 64 / 7739
19
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
20
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
21
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
22
 (HPO:0001171) Split hand 72 / 7739
23
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
24
 (HPO:0008432) Anterior wedging of L1 1 / 7739
25
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
26
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
27
 (HPO:0000885) Broad ribs 21 / 7739
28
 (HPO:0011941) Anterior wedging of L2 1 / 7739
29
 (HPO:0002869) Flared iliac wings 20 / 7739
30
 (HPO:0001385) Hip dysplasia 242 / 7739
31
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
32
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
33
 (HPO:0003016) Metaphyseal widening 41 / 7739
34
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
35
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
36
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
37
 (HPO:0000884) Prominent sternum 11 / 7739
38
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
39
 (HPO:0003274) Hypoplastic acetabulae 7 / 7739
40
 (HPO:0000943) Dysostosis multiplex 22 / 7739
41
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
42
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
43
 (HPO:0002240) Hepatomegaly 467 / 7739
44
 (HPO:0000023) Inguinal hernia 181 / 7739
45
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739
46
 (HPO:0001537) Umbilical hernia 206 / 7739
47
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
48
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
49
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
50
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
51
 (HPO:0001007) Hirsutism 91 / 7739
52
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
53
 (HPO:0001638) Cardiomyopathy 192 / 7739
54
 (HPO:0001654) Abnormality of the heart valves Occasional [Orphanet] 49 / 7739
55
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [Orphanet] 17 / 7739
56
 (OMIM) Mildly coarse facies 2 / 7739
57
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
58
 (OMIM) Thickened lips 1 / 7739
59
 (OMIM) Adult height 110-140 cm 1 / 7739
60
 (MedDRA:10007697) Carpal tunnel syndrome 16 / 7739
61
 (OMIM) Aseptic necrosis of femoral head 1 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
63
 (HPO:0000238) Hydrocephalus 278 / 7739
64
 (OMIM) Hirsutism, mild 2 / 7739
65
 (OMIM) Normal intelligence 81 / 7739
66
 (OMIM) Broad, irregular metaphyses 1 / 7739
67
 (HPO:0002318) Cervical myelopathy 10 / 7739
68
 (OMIM) Large omega-shaped sella 1 / 7739
69
 (OMIM) Anterior wedging of L1 and L2 1 / 7739
70
 (OMIM) Growth arrest at 2-4 years of age 1 / 7739
71
 (OMIM) Arylsulfatase B deficiency in fibroblasts and white blood cells 1 / 7739
72
 (OMIM) Small, flared iliac wings 2 / 7739
73
 (OMIM) Infantile cardiomyopathy 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and ...
Clinical Description OMIM Maroteaux et al. (1963) first described this disorder as a novel dysostosis associated with increased urinary excretion of chondroitin sulfate.

Alder (1939) reported a brother and sister who developed changes in the hip joints at puberty. ...
Molecular genetics OMIM In a patient with mucopolysaccharidosis type VI, born of consanguineous parents, Wicker et al. (1991) identified a homozygous mutation in the ARSB gene (611542.0001).

In patients with MPS VI, Jin et al. (1992) identified homozygous or ...
Population genetics OMIM Using multiple ascertainment sources, Nelson et al. (2003) obtained an incidence rate of MPS VI in western Australia for the period 1969 to 1996 of approximately 1 in 320,000 live births.