Mucopolysaccharidosis type 2, severe form

General Information (adopted from Orphanet):

Synonyms, Signs: Mucopolysaccharidosis type 2A
Hunter syndrome type A
Iduronate 2-sulfatase deficiency type A
Number of Symptoms 81
OrphanetNr: 217085
OMIM Id:
ICD-10: E76.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked
26633932 [IBIS]
Age of onset: Childhood
26633932 [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) Hunter's syndrome is often described as having two phenotypes, attenuated and severe, on the basis of life expectancy and the presence or absence of central nervous system complications. (PMID:26633932) In the severe form, clinical features appear between 2 and 4 years of age. In these cases, progressive neurologic involvement is prominent and progresses to severe mental impairment. Death usually occurs in the first or second decade of life, usually because of obstructive airway disease and/or cardiac failure associated with loss of neurologic function. (PMID:18245410)

Symptom Information: Sort by abundance 

1
(HPO:0000707) Abnormality of the nervous system 18245410 IBIS 61 / 7739
2
(HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [IBIS] 18038146 IBIS 17 / 7739
3
(HPO:0003541) Urinary glycosaminoglycan excretion 15797184 IBIS 6 / 7739
4
(HPO:0002159) Heparan sulfate excretion in urine 26633932; 11015461; 9611068 IBIS 12 / 7739
5
(HPO:0008301) Dermatan sulfate excretion in urine 11015461; 9611068 IBIS 8 / 7739
6
(HPO:0002007) Frontal bossing 26633932 IBIS 366 / 7739
7
(HPO:0000303) Mandibular prognathia 26633932 IBIS 179 / 7739
8
(HPO:0000520) Proptosis 26633932 IBIS 192 / 7739
9
(HPO:0002680) J-shaped sella turcica 26633932 IBIS 15 / 7739
10
(HPO:0010808) Protruding tongue 26633932 IBIS 28 / 7739
11
(HPO:0011220) Prominent forehead 26633932 IBIS 137 / 7739
12
(HPO:0000463) Anteverted nares 26633932 IBIS 305 / 7739
13
(HPO:0000256) Macrocephaly 26633932 IBIS 298 / 7739
14
(HPO:0000271) Abnormality of the face 26633932 IBIS 108 / 7739
15
(HPO:0000158) Macroglossia 9611068; 15797184 IBIS 119 / 7739
16
(HPO:0000280) Coarse facial features 11015461; 9611068; 15797184 IBIS 189 / 7739
17
(HPO:0002788) Recurrent upper respiratory tract infections 12572848 IBIS 31 / 7739
18
(HPO:0000470) Short neck 26633932 IBIS 345 / 7739
19
(HPO:0000929) Abnormality of the skull 26633932 IBIS 53 / 7739
20
(HPO:0005280) Depressed nasal bridge 26633932 IBIS 381 / 7739
21
(HPO:0000648) Optic atrophy 18245410 IBIS 238 / 7739
22
(HPO:0000403) Recurrent otitis media 15797184 IBIS 61 / 7739
23
(HPO:0001730) Progressive hearing impairment 15797184 IBIS 29 / 7739
24
(HPO:0000365) Hearing impairment 26633932; 11015461; 9611068; 12572848 IBIS 539 / 7739
25
(HPO:0000369) Low-set ears 26633932 IBIS 372 / 7739
26
(HPO:0100785) Insomnia 15797184 IBIS 18 / 7739
27
(HPO:0001250) Seizures 18245410 IBIS 1245 / 7739
28
(HPO:0000752) Hyperactivity 18245410; 9611068 IBIS 140 / 7739
29
(HPO:0000708) Behavioral abnormality 18245410; 15797184 IBIS 212 / 7739
30
(HPO:0001249) Intellectual disability 11015461; 12572848 IBIS 1089 / 7739
31
(HPO:0001263) Global developmental delay 18245410; 9611068; 15797184 IBIS 853 / 7739
32
(HPO:0000718) Aggressive behavior 18245410 IBIS 109 / 7739
33
(HPO:0002376) Developmental regression 26633932; 18245410; 9611068 IBIS 74 / 7739
34
(HPO:0002516) Increased intracranial pressure 18245410 IBIS 47 / 7739
35
(HPO:0001387) Joint stiffness 26633932; 9611068; 12572848 IBIS 322 / 7739
36
(HPO:0005684) Distal arthrogryposis 15797184 IBIS 31 / 7739
37
(HPO:0002808) Kyphosis 15797184 IBIS 289 / 7739
38
(HPO:0011927) Short digit 26633932 IBIS 17 / 7739
39
(HPO:0000924) Abnormality of the skeletal system 9611068; 12572848 IBIS 114 / 7739
40
(HPO:0001376) Limitation of joint mobility 11015461 IBIS 27 / 7739
41
(HPO:0004568) Beaking of vertebral bodies 26633932 IBIS 19 / 7739
42
(HPO:0002751) Kyphoscoliosis 12572848 IBIS 131 / 7739
43
(HPO:0002945) Intervertebral space narrowing 26633932 IBIS 7 / 7739
44
(HPO:0005619) Thoracolumbar kyphosis 11015461 IBIS 8 / 7739
45
(HPO:0001537) Umbilical hernia 26633932; 12572848 IBIS 206 / 7739
46
(HPO:0001538) Protuberant abdomen 26633932 IBIS 36 / 7739
47
(HPO:0000023) Inguinal hernia 12572848 IBIS 181 / 7739
48
(HPO:0001433) Hepatosplenomegaly 26633932; 11015461; 9611068; 12572848; 15797184 IBIS 78 / 7739
49
(HPO:0001541) Ascites 26633932 IBIS 94 / 7739
50
(HPO:0002240) Hepatomegaly 9611068 IBIS 467 / 7739
51
(HPO:0004322) Short stature 12572848; 15797184 IBIS 1232 / 7739
52
(HPO:0008897) Postnatal growth retardation 26633932 IBIS 113 / 7739
53
(HPO:0001072) Thickened skin 26633932 IBIS 87 / 7739
54
(HPO:0011355) Localized skin lesion 26633932 IBIS 3 / 7739
55
(HPO:0000961) Cyanosis 26633932 IBIS 60 / 7739
56
(HPO:0002092) Pulmonary hypertension 26633932 IBIS 109 / 7739
57
(HPO:0005176) Dysplastic aortic valve 11015461 IBIS 2 / 7739
58
(HPO:0001698) Pericardial effusion 26633932 IBIS 20 / 7739
59
(HPO:0001634) Mitral valve prolapse 26633932 IBIS 69 / 7739
60
(HPO:0001649) Tachycardia 26633932 IBIS 53 / 7739
61
(HPO:0001626) Abnormality of the cardiovascular system 18245410; 15797184 IBIS 73 / 7739
62
(HPO:0001653) Mitral regurgitation 26633932 IBIS 64 / 7739
63
(HPO:0004823) Anisopoikilocytosis 26633932 IBIS 4 / 7739
64
(HPO:0001931) Hypochromic anemia 26633932 IBIS 5 / 7739
65
(HPO:0005518) Erythrocyte macrocytosis 26633932 IBIS 13 / 7739
66
(HPO:0010741) Edema of the lower limbs 26633932 IBIS 34 / 7739
67
(HPO:0000969) Edema 26633932 IBIS 117 / 7739
68
(HPO:0006536) Obstructive lung disease 18245410 IBIS 7 / 7739
69
(HPO:0002094) Dyspnea 26633932 IBIS 132 / 7739
70
(HPO:0002789) Tachypnea 26633932 IBIS 48 / 7739
71
(HPO:0005348) Inspiratory stridor 26633932 IBIS 8 / 7739
72
(HPO:0430028) Hyperplasia of the maxilla 26633932 IBIS 1 / 7739
73
(HPO:0001334) Communicating hydrocephalus 18245410 IBIS 32 / 7739
74
(HPO:3000033) Abnormality of nasopharyngeal adenoids 15797184 IBIS 4 / 7739
75
(MedDRA:10007697) Carpal tunnel syndrome 15797184 IBIS 16 / 7739
76
(MedDRA:10011704) Cyanosis central 26633932 IBIS 1 / 7739
77
(HPO:0012795) Abnormality of the optic disc 18245410 IBIS 187 / 7739
78
(HPO:0040168) Focal seizures, afebril 26633932 IBIS 6 / 7739
79
(MedDRA:10041235) Snoring 26633932 IBIS 8 / 7739
80
(HPO:0030148) Heart murmur 26633932 IBIS 29 / 7739
81
(MedDRA:10001229) Adenoidal hypertrophy 15797184 IBIS 3 / 7739

Associated genes:

IDS

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
IDS rs113993946 pathogenic RCV000011246.6
IDS rs113993946 pathogenic RCV000011244.3

Additional Information: