Scheie syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MPS1-S
MPS1S
Mucopolysaccharidosis type V, formerly
MPS5, formerly
Mucopolysaccharidosis type IS
Mucopolysaccharidosis type 1S
MPS V, formerly
Number of Symptoms 95
OrphanetNr: 93474
OMIM Id: 607016
ICD-10: E76.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.07 of 100 000 - PMID: 18796143 [IBIS]
Inheritance: Autosomal recessive
- PMID: 813180 [IBIS]
Age of onset: Childhood
Adolescent
- PMID: 24675674 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Mucopolysaccharidosis type 1
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Mucopolysaccharidosis type I (MPS I) is a panethnic, chronic and progressive, autosomal recessive lysosomal storage disease in which degradation of the glycoaminoglycans (GAGs) dermatan and heparan sulphate is deficient. Currently three clinical syndromes are often referred to which, from severe through intermediate to mild phenotypes, are termed Hurler, Hurler-Scheie and Scheie. It is clear however that this is an oversimplification and that the full phenotypic spectrum of disease forms a continuum (PMID:18796143).

Symptom Information: Sort by abundance 

1
 (HPO:0002091) Restrictive ventilatory defect 19117856 IBIS 46 / 7739
2
 (HPO:0002027) Abdominal pain 19117856 IBIS 184 / 7739
3
 (HPO:0002019) Constipation 19117856 IBIS 194 / 7739
4
 (HPO:0002014) Diarrhea 19117856 IBIS 225 / 7739
5
 (HPO:0000520) Proptosis 22074387 IBIS 192 / 7739
6
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 19117856 IBIS 124 / 7739
7
 (HPO:0007957) Corneal opacity Frequent [IBIS] 24675674; 19117856; 813180; 22074387; 11414650 IBIS 84 / 7739
8
 (HPO:0007807) Optic nerve compression 19117856 IBIS 6 / 7739
9
 (HPO:0011510) Drusen 813180 IBIS 6 / 7739
10
 (HPO:0000546) Retinal degeneration rare [HPO:skoehler] 19117856 IBIS 61 / 7739
11
 (HPO:0000662) Nyctalopia 19117856 IBIS 92 / 7739
12
 (HPO:0007994) Peripheral visual field loss 19117856 IBIS 13 / 7739
13
 (HPO:0000529) Progressive visual loss 19117856 IBIS 54 / 7739
14
 (HPO:0000501) Glaucoma Occasional [IBIS] Very frequent [Orphanet] rare [HPO:skoehler] 24675674; 19117856 IBIS 180 / 7739
15
 (HPO:0002099) Asthma Occasional [IBIS] 24675674; 19117856 IBIS 62 / 7739
16
 (HPO:0002093) Respiratory insufficiency 19117856 IBIS 410 / 7739
17
 (HPO:0004469) Chronic bronchitis 813180 IBIS 17 / 7739
18
 (HPO:0006532) Recurrent pneumonia 813180 IBIS 48 / 7739
19
 (HPO:0011109) Chronic sinusitis 19117856 IBIS 17 / 7739
20
 (HPO:0002257) Chronic rhinitis 813180 IBIS 10 / 7739
21
 (HPO:0002777) Tracheal stenosis 19117856 IBIS 35 / 7739
22
 (HPO:0004322) Short stature 19117856 IBIS 1232 / 7739
23
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [IBIS] Very frequent [Orphanet] 22074387 IBIS 17 / 7739
24
 (HPO:0008301) Dermatan sulfate excretion in urine 813180; 22074387; 11414650 IBIS 8 / 7739
25
 (HPO:0002159) Heparan sulfate excretion in urine 813180; 22074387; 11414650 IBIS 12 / 7739
26
 (HPO:0004371) Abnormality of glycosaminoglycan metabolism 19117856 IBIS 3 / 7739
27
 (HPO:0003541) Urinary glycosaminoglycan excretion 19117856; 813180 IBIS 6 / 7739
28
 (HPO:0001648) Cor pulmonale Rare [IBIS] 24675674 IBIS 16 / 7739
29
 (HPO:0001654) Abnormality of the heart valves Frequent [IBIS] 24675674 IBIS 49 / 7739
30
 (HPO:0001646) Abnormality of the aortic valve Very frequent [Orphanet] 22074387 IBIS 55 / 7739
31
 (HPO:0001638) Cardiomyopathy Occasional [IBIS] 24675674 IBIS 192 / 7739
32
 (HPO:0001635) Congestive heart failure Occasional [IBIS] 24675674 IBIS 232 / 7739
33
 (HPO:0004356) Abnormality of lysosomal metabolism 22074387 IBIS 6 / 7739
34
 (HPO:0000158) Macroglossia Occasional [IBIS] 24675674; 19117856; 22074387 IBIS 119 / 7739
35
 (HPO:0003546) Exercise intolerance 11414650 IBIS 62 / 7739
36
 (HPO:0009020) Exercise-induced muscle fatigue 11414650 IBIS 4 / 7739
37
 (HPO:0001324) Muscle weakness 11414650 IBIS 859 / 7739
38
 (HPO:0007340) Lower limb muscle weakness 19117856 IBIS 61 / 7739
39
 (HPO:0003391) Gowers sign 11414650 IBIS 37 / 7739
40
 (HPO:0003738) Exercise-induced myalgia 11414650 IBIS 19 / 7739
41
 (MedDRA:10007697) Carpal tunnel syndrome Frequent [IBIS] 24675674 IBIS 16 / 7739
42
 (HPO:0001263) Global developmental delay 22074387 IBIS 853 / 7739
43
 (HPO:0002360) Sleep disturbance Occasional [IBIS] 24675674 IBIS 113 / 7739
44
 (HPO:0002870) Obstructive sleep apnea 19117856 IBIS 16 / 7739
45
 (HPO:0100543) Cognitive impairment Occasional [IBIS] 24675674 IBIS 230 / 7739
46
 (HPO:0001288) Gait disturbance 19117856 IBIS 318 / 7739
47
 (HPO:0002315) Headache 19117856 IBIS 175 / 7739
48
 (HPO:0002857) Genu valgum Occasional [IBIS] 24675674; 19117856 IBIS 144 / 7739
49
 (HPO:0100490) Camptodactyly of finger 813180 IBIS 212 / 7739
50
 (HPO:0001760) Abnormality of the foot 11414650 IBIS 96 / 7739
51
 (HPO:0001761) Pes cavus Occasional [IBIS] 24675674 IBIS 225 / 7739
52
 (HPO:0001385) Hip dysplasia Occasional [IBIS] 24675674; 19117856 IBIS 242 / 7739
53
 (HPO:0009473) Joint contracture of the hand 813180 IBIS 84 / 7739
54
 (HPO:0002987) Elbow flexion contracture 813180 IBIS 64 / 7739
55
 (HPO:0000772) Abnormality of the ribs 11414650 IBIS 146 / 7739
56
 (HPO:0003418) Back pain 19117856 IBIS 17 / 7739
57
 (HPO:0002808) Kyphosis Occasional [IBIS] 24675674; 19117856 IBIS 289 / 7739
58
 (HPO:0002751) Kyphoscoliosis 19117856 IBIS 131 / 7739
59
 (HPO:0002650) Scoliosis Occasional [IBIS] 24675674; 19117856 IBIS 705 / 7739
60
 (HPO:0008445) Cervical spinal canal stenosis 11414650 IBIS 3 / 7739
61
 (HPO:0008462) Cervical instability 19117856 IBIS 4 / 7739
62
 (HPO:0000938) Osteopenia 19117856 IBIS 138 / 7739
63
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 19117856; 22074387 IBIS 322 / 7739
64
 (HPO:0001376) Limitation of joint mobility 813180 IBIS 27 / 7739
65
 (HPO:0003040) Arthropathy 19117856 IBIS 19 / 7739
66
 (HPO:0000943) Dysostosis multiplex Frequent [IBIS] 24675674; 19117856; 813180 IBIS 22 / 7739
67
 (HPO:0000574) Thick eyebrow 22074387 IBIS 96 / 7739
68
 (HPO:0001007) Hirsutism 813180 IBIS 91 / 7739
69
 (HPO:0002240) Hepatomegaly Frequent [IBIS] Frequent [Orphanet] 24675674 IBIS 467 / 7739
70
 (HPO:0001433) Hepatosplenomegaly 19117856; 813180; 22074387; 11414650 IBIS 78 / 7739
71
 (HPO:0001744) Splenomegaly Occasional [IBIS] Frequent [Orphanet] 24675674 IBIS 337 / 7739
72
 (HPO:0001537) Umbilical hernia 19117856; 813180 IBIS 206 / 7739
73
 (HPO:0000023) Inguinal hernia 19117856 IBIS 181 / 7739
74
 (HPO:0000280) Coarse facial features Frequent [IBIS] Frequent [Orphanet] 24675674; 22074387 IBIS 189 / 7739
75
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 22074387 IBIS 115 / 7739
76
 (HPO:0000168) Abnormality of the gingiva 19117856 IBIS 51 / 7739
77
 (HPO:0000164) Abnormality of the teeth 19117856 IBIS 291 / 7739
78
 (HPO:0000682) Abnormality of dental enamel 19117856 IBIS 102 / 7739
79
 (HPO:0000670) Carious teeth 19117856 IBIS 145 / 7739
80
 (HPO:0100765) Abnormality of the tonsils Occasional [IBIS] 24675674; 19117856 IBIS 10 / 7739
81
 (HPO:0000389) Chronic otitis media 813180 IBIS 64 / 7739
82
 (HPO:0002828) Multiple joint contractures Frequent [IBIS] 24675674 IBIS 16 / 7739
83
 (HPO:0010307) Stridor 22074387 IBIS 19 / 7739
84
 (HPO:0001730) Progressive hearing impairment 22074387 IBIS 29 / 7739
85
 (HPO:0100790) Hernia Frequent [IBIS] 24675674 IBIS 9 / 7739
86
 (HPO:0040090) Abnormality of the tympanic membrane 813180 IBIS 3 / 7739
87
 (HPO:0001334) Communicating hydrocephalus 19117856 IBIS 32 / 7739
88
 (HPO:0030043) Hip Subluxation 19117856 IBIS 9 / 7739
89
 (HPO:0000238) Hydrocephalus 22074387 IBIS 278 / 7739
90
 (HPO:0040261) Increased size of nasopharyngeal adenoids 19117856 IBIS 4 / 7739
91
 (HPO:0002196) Myelopathy Occasional [IBIS] 24675674 IBIS 6 / 7739
92
 (HPO:0002176) Spinal cord compression 19117856 IBIS 15 / 7739
93
 (HPO:0040083) Toe walking Occasional [IBIS] 24675674 IBIS 15 / 7739
94
 (MedDRA:10041235) Snoring Occasional [IBIS] 24675674; 19117856 IBIS 8 / 7739
95
 (OMIM) Enlarged tonsils Occasional [IBIS] 24675674 IBIS 3 / 7739

Associated genes:

IDUA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ ...
Clinical Description OMIM Stiff joints, clouding of the cornea most dense peripherally, survival to a late age with little if any impairment of intellect, and aortic regurgitation are features of the Scheie syndrome, which was earlier thought (McKusick et al., 1965) ...
Molecular genetics OMIM Bunge et al. (1995) identified 13 novel and 7 previously reported mutations of the IDUA gene, covering 88% of mutant alleles and 86% of genotypes, in a total of 29 patients with MPS I of differing clinical severity. ...
Population genetics OMIM Lowry and Renwick (1971) reported the frequency of Scheie syndrome to be 1 in 500,000 births.

Yamagishi et al. (1996) defined the IDUA mutations in 19 Japanese MPS I patients, including 2 pairs of sibs, with ...