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: |
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ICD-10: |
E76.1 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0000707) | Abnormality of the nervous system | 18245410 | IBIS | 61 / 7739 | ||
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(HPO:0011020) | Abnormality of mucopolysaccharide metabolism | Very frequent [IBIS] | 18038146 | IBIS | 17 / 7739 | |
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(HPO:0003541) | Urinary glycosaminoglycan excretion | 15797184 | IBIS | 6 / 7739 | ||
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(HPO:0002159) | Heparan sulfate excretion in urine | 26633932; 11015461; 9611068 | IBIS | 12 / 7739 | ||
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(HPO:0008301) | Dermatan sulfate excretion in urine | 11015461; 9611068 | IBIS | 8 / 7739 | ||
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(HPO:0002007) | Frontal bossing | 26633932 | IBIS | 366 / 7739 | ||
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(HPO:0000303) | Mandibular prognathia | 26633932 | IBIS | 179 / 7739 | ||
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(HPO:0000520) | Proptosis | 26633932 | IBIS | 192 / 7739 | ||
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(HPO:0002680) | J-shaped sella turcica | 26633932 | IBIS | 15 / 7739 | ||
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(HPO:0010808) | Protruding tongue | 26633932 | IBIS | 28 / 7739 | ||
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(HPO:0011220) | Prominent forehead | 26633932 | IBIS | 137 / 7739 | ||
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(HPO:0000463) | Anteverted nares | 26633932 | IBIS | 305 / 7739 | ||
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(HPO:0000256) | Macrocephaly | 26633932 | IBIS | 298 / 7739 | ||
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(HPO:0000271) | Abnormality of the face | 26633932 | IBIS | 108 / 7739 | ||
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(HPO:0000158) | Macroglossia | 9611068; 15797184 | IBIS | 119 / 7739 | ||
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(HPO:0000280) | Coarse facial features | 11015461; 9611068; 15797184 | IBIS | 189 / 7739 | ||
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(HPO:0002788) | Recurrent upper respiratory tract infections | 12572848 | IBIS | 31 / 7739 | ||
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(HPO:0000470) | Short neck | 26633932 | IBIS | 345 / 7739 | ||
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(HPO:0000929) | Abnormality of the skull | 26633932 | IBIS | 53 / 7739 | ||
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(HPO:0005280) | Depressed nasal bridge | 26633932 | IBIS | 381 / 7739 | ||
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(HPO:0000648) | Optic atrophy | 18245410 | IBIS | 238 / 7739 | ||
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(HPO:0000403) | Recurrent otitis media | 15797184 | IBIS | 61 / 7739 | ||
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(HPO:0001730) | Progressive hearing impairment | 15797184 | IBIS | 29 / 7739 | ||
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(HPO:0000365) | Hearing impairment | 26633932; 11015461; 9611068; 12572848 | IBIS | 539 / 7739 | ||
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(HPO:0000369) | Low-set ears | 26633932 | IBIS | 372 / 7739 | ||
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(HPO:0100785) | Insomnia | 15797184 | IBIS | 18 / 7739 | ||
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(HPO:0001250) | Seizures | 18245410 | IBIS | 1245 / 7739 | ||
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(HPO:0000752) | Hyperactivity | 18245410; 9611068 | IBIS | 140 / 7739 | ||
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(HPO:0000708) | Behavioral abnormality | 18245410; 15797184 | IBIS | 212 / 7739 | ||
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(HPO:0001249) | Intellectual disability | 11015461; 12572848 | IBIS | 1089 / 7739 | ||
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(HPO:0001263) | Global developmental delay | 18245410; 9611068; 15797184 | IBIS | 853 / 7739 | ||
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(HPO:0000718) | Aggressive behavior | 18245410 | IBIS | 109 / 7739 | ||
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(HPO:0002376) | Developmental regression | 26633932; 18245410; 9611068 | IBIS | 74 / 7739 | ||
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(HPO:0002516) | Increased intracranial pressure | 18245410 | IBIS | 47 / 7739 | ||
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(HPO:0001387) | Joint stiffness | 26633932; 9611068; 12572848 | IBIS | 322 / 7739 | ||
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(HPO:0005684) | Distal arthrogryposis | 15797184 | IBIS | 31 / 7739 | ||
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(HPO:0002808) | Kyphosis | 15797184 | IBIS | 289 / 7739 | ||
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(HPO:0011927) | Short digit | 26633932 | IBIS | 17 / 7739 | ||
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(HPO:0000924) | Abnormality of the skeletal system | 9611068; 12572848 | IBIS | 114 / 7739 | ||
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(HPO:0001376) | Limitation of joint mobility | 11015461 | IBIS | 27 / 7739 | ||
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(HPO:0004568) | Beaking of vertebral bodies | 26633932 | IBIS | 19 / 7739 | ||
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(HPO:0002751) | Kyphoscoliosis | 12572848 | IBIS | 131 / 7739 | ||
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(HPO:0002945) | Intervertebral space narrowing | 26633932 | IBIS | 7 / 7739 | ||
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(HPO:0005619) | Thoracolumbar kyphosis | 11015461 | IBIS | 8 / 7739 | ||
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(HPO:0001537) | Umbilical hernia | 26633932; 12572848 | IBIS | 206 / 7739 | ||
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(HPO:0001538) | Protuberant abdomen | 26633932 | IBIS | 36 / 7739 | ||
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(HPO:0000023) | Inguinal hernia | 12572848 | IBIS | 181 / 7739 | ||
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(HPO:0001433) | Hepatosplenomegaly | 26633932; 11015461; 9611068; 12572848; 15797184 | IBIS | 78 / 7739 | ||
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(HPO:0001541) | Ascites | 26633932 | IBIS | 94 / 7739 | ||
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(HPO:0002240) | Hepatomegaly | 9611068 | IBIS | 467 / 7739 | ||
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(HPO:0004322) | Short stature | 12572848; 15797184 | IBIS | 1232 / 7739 | ||
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(HPO:0008897) | Postnatal growth retardation | 26633932 | IBIS | 113 / 7739 | ||
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(HPO:0001072) | Thickened skin | 26633932 | IBIS | 87 / 7739 | ||
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(HPO:0011355) | Localized skin lesion | 26633932 | IBIS | 3 / 7739 | ||
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(HPO:0000961) | Cyanosis | 26633932 | IBIS | 60 / 7739 | ||
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(HPO:0002092) | Pulmonary hypertension | 26633932 | IBIS | 109 / 7739 | ||
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(HPO:0005176) | Dysplastic aortic valve | 11015461 | IBIS | 2 / 7739 | ||
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(HPO:0001698) | Pericardial effusion | 26633932 | IBIS | 20 / 7739 | ||
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(HPO:0001634) | Mitral valve prolapse | 26633932 | IBIS | 69 / 7739 | ||
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(HPO:0001649) | Tachycardia | 26633932 | IBIS | 53 / 7739 | ||
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(HPO:0001626) | Abnormality of the cardiovascular system | 18245410; 15797184 | IBIS | 73 / 7739 | ||
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(HPO:0001653) | Mitral regurgitation | 26633932 | IBIS | 64 / 7739 | ||
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(HPO:0004823) | Anisopoikilocytosis | 26633932 | IBIS | 4 / 7739 | ||
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(HPO:0001931) | Hypochromic anemia | 26633932 | IBIS | 5 / 7739 | ||
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(HPO:0005518) | Erythrocyte macrocytosis | 26633932 | IBIS | 13 / 7739 | ||
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(HPO:0010741) | Edema of the lower limbs | 26633932 | IBIS | 34 / 7739 | ||
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(HPO:0000969) | Edema | 26633932 | IBIS | 117 / 7739 | ||
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(HPO:0006536) | Obstructive lung disease | 18245410 | IBIS | 7 / 7739 | ||
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(HPO:0002094) | Dyspnea | 26633932 | IBIS | 132 / 7739 | ||
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(HPO:0002789) | Tachypnea | 26633932 | IBIS | 48 / 7739 | ||
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(HPO:0005348) | Inspiratory stridor | 26633932 | IBIS | 8 / 7739 | ||
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(HPO:0430028) | Hyperplasia of the maxilla | 26633932 | IBIS | 1 / 7739 | ||
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(HPO:0001334) | Communicating hydrocephalus | 18245410 | IBIS | 32 / 7739 | ||
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(HPO:3000033) | Abnormality of nasopharyngeal adenoids | 15797184 | IBIS | 4 / 7739 | ||
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(MedDRA:10007697) | Carpal tunnel syndrome | 15797184 | IBIS | 16 / 7739 | ||
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(MedDRA:10011704) | Cyanosis central | 26633932 | IBIS | 1 / 7739 | ||
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(HPO:0012795) | Abnormality of the optic disc | 18245410 | IBIS | 187 / 7739 | ||
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(HPO:0040168) | Focal seizures, afebril | 26633932 | IBIS | 6 / 7739 | ||
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(MedDRA:10041235) | Snoring | 26633932 | IBIS | 8 / 7739 | ||
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(HPO:0030148) | Heart murmur | 26633932 | IBIS | 29 / 7739 | ||
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(MedDRA:10001229) | Adenoidal hypertrophy | 15797184 | IBIS | 3 / 7739 |
Associated genes:
IDS |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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IDS | rs113993946 | pathogenic | RCV000011244.3 |
IDS | rs113993946 | pathogenic | RCV000011246.6 |