Mucopolysaccharidosis type 2, attenuated form

General Information (adopted from Orphanet):

Synonyms, Signs: Mucopolysaccharidosis type 2B
Iduronate 2-sulfatase deficiency type B
Hunter syndrome type B
Number of Symptoms 61
OrphanetNr: 217093
OMIM Id:
ICD-10: E76.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked
23209998 [IBIS]
Age of onset: Childhood
23209998 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Mucopolysaccharidosis type 2
 -Rare bone disease
 -Rare cardiac disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare skin disease

Comment:

Mucopolysaccharidosis type II (MPS2; Hunter syndrome) is caused by mutation in the gene encoding iduronate 2-sulfatase (IDS). (OMIM) In the attenuated form, clinical signs and symptoms have a slightly later onset than in the severe form, but neurologic dysfunction is minimal. These patients have normal intelligence and survive into adulthood. (PMID:18245410)

Symptom Information: Sort by abundance 

1
 (HPO:0002159) Heparan sulfate excretion in urine 11015461 IBIS 12 / 7739
2
 (HPO:0008301) Dermatan sulfate excretion in urine 11015461 IBIS 8 / 7739
3
 (HPO:0000020) Urinary incontinence 23209998 IBIS 75 / 7739
4
 (HPO:0008155) Mucopolysacchariduria 6816147 IBIS 6 / 7739
5
 (HPO:0002007) Frontal bossing 23209998 IBIS 366 / 7739
6
 (HPO:0000293) Full cheeks 6816147 IBIS 85 / 7739
7
 (HPO:0012384) Rhinitis 6816147 IBIS 18 / 7739
8
 (HPO:0000454) Flared nostrils 6816147 IBIS 11 / 7739
9
 (HPO:0000431) Wide nasal bridge 23209998 IBIS 290 / 7739
10
 (HPO:0000470) Short neck 23209998 IBIS 345 / 7739
11
 (HPO:0000280) Coarse facial features 23209998 IBIS 189 / 7739
12
 (HPO:0000687) Widely spaced teeth 23209998 IBIS 40 / 7739
13
 (HPO:0000929) Abnormality of the skull 23209998 IBIS 53 / 7739
14
 (HPO:0000256) Macrocephaly 23209998; 6816147 IBIS 298 / 7739
15
 (HPO:0000448) Prominent nose 6816147 IBIS 56 / 7739
16
 (HPO:0000303) Mandibular prognathia 6816147 IBIS 179 / 7739
17
 (HPO:0200117) Recurrent upper and lower respiratory tract infections 6816147 IBIS 4 / 7739
18
 (HPO:0000336) Prominent supraorbital ridges 6816147 IBIS 45 / 7739
19
 (HPO:0010823) Ridged cranial sutures 23209998 IBIS 1 / 7739
20
 (HPO:0001085) Papilledema 6816147 IBIS 31 / 7739
21
 (HPO:0000388) Otitis media 6816147 IBIS 28 / 7739
22
 (HPO:0000405) Conductive hearing impairment 6816147 IBIS 164 / 7739
23
 (HPO:0000407) Sensorineural hearing impairment 6816147 IBIS 524 / 7739
24
 (HPO:0002474) Expressive language delay 23209998 IBIS 8 / 7739
25
 (HPO:0001288) Gait disturbance 23209998; 6816147 IBIS 318 / 7739
26
 (HPO:0001256) Intellectual disability, mild 23209998 IBIS 141 / 7739
27
 (HPO:0001239) Wrist flexion contracture 23209998 IBIS 13 / 7739
28
 (HPO:0002828) Multiple joint contractures 6816147 IBIS 16 / 7739
29
 (HPO:0100759) Clubbing of fingers 23209998; 6816147 IBIS 40 / 7739
30
 (HPO:0000768) Pectus carinatum 23209998 IBIS 136 / 7739
31
 (HPO:0005619) Thoracolumbar kyphosis 6816147 IBIS 8 / 7739
32
 (HPO:0002758) Osteoarthritis 6816147 IBIS 78 / 7739
33
 (HPO:0006596) Restricted chest movement 6816147 IBIS 2 / 7739
34
 (HPO:0009381) Short finger 23209998; 6816147 IBIS 45 / 7739
35
 (HPO:0003393) Thenar muscle atrophy 6816147 IBIS 10 / 7739
36
 (HPO:0001433) Hepatosplenomegaly 6816147 IBIS 78 / 7739
37
 (HPO:0002607) Bowel incontinence 23209998 IBIS 33 / 7739
38
 (HPO:0001537) Umbilical hernia 6816147 IBIS 206 / 7739
39
 (HPO:0004872) Incisional hernia Rare [IBIS] 6816147 IBIS 2 / 7739
40
 (HPO:0002240) Hepatomegaly 18245410; 11015461 IBIS 467 / 7739
41
 (HPO:0001538) Protuberant abdomen 23209998; 6816147 IBIS 36 / 7739
42
 (HPO:0000023) Inguinal hernia 6816147 IBIS 181 / 7739
43
 (HPO:0004322) Short stature 6816147 IBIS 1232 / 7739
44
 (HPO:0008897) Postnatal growth retardation 23209998; 11015461 IBIS 113 / 7739
45
 (HPO:0001007) Hirsutism 6816147 IBIS 91 / 7739
46
 (HPO:0001072) Thickened skin 23209998 IBIS 87 / 7739
47
 (HPO:0000951) Abnormality of the skin 23209998 IBIS 147 / 7739
48
 (HPO:0001626) Abnormality of the cardiovascular system 6816147 IBIS 73 / 7739
49
 (HPO:0001635) Congestive heart failure 6816147 IBIS 232 / 7739
50
 (HPO:0001654) Abnormality of the heart valves 6816147 IBIS 49 / 7739
51
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [IBIS] 18038146 IBIS 17 / 7739
52
 (HPO:0001609) Hoarse voice 6816147 IBIS 34 / 7739
53
 (HPO:0006536) Obstructive lung disease 6816147 IBIS 7 / 7739
54
 (HPO:0011110) Tonsillitis 6816147 IBIS 2 / 7739
55
 (HPO:0004302) Functional motor problems 23209998 IBIS 2 / 7739
56
 (MedDRA:10015543) Eustachian tube dysfunction 6816147 IBIS 1 / 7739
57
 (MedDRA:10007697) Carpal tunnel syndrome 6816147 IBIS 16 / 7739
58
 (HPO:0040115) Abnormality of the Eustachian tube 6816147 IBIS 2 / 7739
59
 (MedDRA:10023874) Laryngitis 6816147 IBIS 2 / 7739
60
 (HPO:3000033) Abnormality of nasopharyngeal adenoids 6816147 IBIS 4 / 7739
61
 (MedDRA:10001229) Adenoidal hypertrophy 6816147 IBIS 3 / 7739

Associated genes:

IDS

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
IDS rs199422231 pathogenic RCV000011243.3

Additional Information: