ORPHA:580
Mucopolysaccharidosis type 2
Synonyms: Hunter syndrome · Iduronate 2-sulfatase deficiency · MPS2 · MPSII · Mucopolysaccharidosis type II
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 2 | Hunter syndrome · Iduronate 2-sulfatase deficiency · MPS2 · MPSII · Mucopolysaccharidosis type II |
| fr | Mucopolysaccharidose type 2 | Déficit en iduronate 2-sulfatase · MPS2 · MPSII · Maladie de Hunter · Mucopolysaccharidose type II |
| de | Mukopolysaccharidose Typ 2 | Hunter-Krankheit · Hunter-Syndrom · Iduronat 2-Sulfatase-Mangel · MPS2 · MPSII · Mukopolysaccharidose Typ II |
| es | Mucopolisacaridosis tipo 2 | Deficiencia de iduronato 2-sulfatasa · MPS2 · MPSII · Mucopolisacaridosis tipo II · Síndrome de Hunter |
| it | Mucopolisaccaridosi tipo 2 | MPS2 · MPSII · Mucopolisaccaridosi, tipo II · Sindrome di Hunter |
| nl | Mucopolysacharidose type 2 | Deficiëntie van iduronaat 2-sulfatase · MPS2 · MPSII · Mucopolysacharidose type II · Syndroom van Hunter |
| pt | Mucopolissacaridose tipo 2 | Deficiência de iduronato 2-sulfatase · MPS2 · Síndrome Hunter |
| pl | Mukopolisacharydoza typu 2 | MPS2 · MPSII · Mukopolisacharydoza typu II · Niedobór 2-sulfatazy idorunianu · Zespół Huntera |
| cs | Mukopolysacharidóza, typ 2 | Deficit iduronát 2-sulfatázy · MPS2 · MPSII · Mukopolysacharidóza, typ II · Hunterův syndrom |
| uk | Мукополісахаридоз, тип 2 | Синдром Хантера · Дефіцит ідуронат-2-сульфатази · MPS2 · MPSII · Мукополісахаридоз II типу |
| zh | 粘多糖贮积症2型 | 艾杜糖醛酸2-硫酸酯酶缺乏症 |
| tr | Mukopolisakkaridoz tip 2 | MPS2 · MPSII · Hunter sendromu · Mukopolisakkaridoz tip II · İduronat 2-sülfataz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309900 | E | validated | |
| ICD-10 | E76.1 | E | specific | validated |
| ICD-11 | 5C56.31 | E | specific | validated |
| MONDO | 0010674 | E | validated | |
| MeSH | D016532 | E | validated | |
| UMLS | C0026705 | E | validated | |
| GARD | 6675 | E | validated | |
| MedDRA | 10056889 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:217581Lysosomal disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone diseases - ORPHA:79213Mucopolysaccharidosis
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders; rare bone diseases; rare transplant-related disorders - ORPHA:79388Mucopolysaccharidosis with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| IDS | ORPHA:217085Mucopolysaccharidosis type 2, severe form | Disease-causing germline mutation(s) in | Assessed | HGNC:5389 | ENSG00000010404 | 300823 | Xq28 | iduronate 2-sulfatase | |
| IDS | ORPHA:217093Mucopolysaccharidosis type 2, attenuated form | Disease-causing germline mutation(s) in | Assessed | HGNC:5389 | ENSG00000010404 | 300823 | Xq28 | iduronate 2-sulfatase |
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Prevalence and incidence
27 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.21 / 100 000 | Italy | Value and class | Validated | 11953730[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | 6.5 / 100 000 | Sweden | Value and class | Validated | 18681890[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 / 100 000 | Norway | Value and class | Validated | 18681890[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | 4.4 / 100 000 | Norway | Value and class | Validated | 18681890[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.27 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.09 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.64 / 100 000 | Germany | Value and class | Validated | 16435194[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.31 / 100 000 | Sweden | Value and class | Validated | 18681890[PMID]_25274184[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.1 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.43 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.71 / 100 000 | Ireland | Value and class | Validated | 9439667[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.07 / 100 000 | Taiwan, Province of China | Value and class | Validated | 19396827[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.74 / 100 000 | Australia | Value and class | Validated | 9918480[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 2.16 / 100 000 | Estonia | Value and class | Validated | 22480138[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | Canada | Value and class | Validated | 10617747[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018 [OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.68 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.46 / 100 000 | Poland | Value and class | Validated | 25472774[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.46 / 100 000 | Switzerland | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.74 / 100 000 | Korea, Republic of | Value and class | Validated | 25364648[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 / 100 000 | Tunisia | Value and class | Validated | 20209839[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.26 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.37 / 100 000 | Brazil | Value and class | Validated | 31926052[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.84 / 100 000 | Japan | Value and class | Validated | 28595941[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.07 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
74 annotations · validated 2020-01-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000280 | Coarse facial features | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000256 | Macrocephaly | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0000708 | Atypical behavior | |
| HP:0002028 | Chronic diarrhea | |
| HP:0100543 | Cognitive impairment | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0005781 | Contractures of the large joints | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0008301 | Dermatan sulfate excretion in urine | |
| HP:0002376 | Developmental regression | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0030812 | Enlarged tonsils | |
| HP:0030044 | Flexion contracture of digit | |
| HP:0000293 | Full cheeks | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001510 | Growth delay | |
| HP:0002159 | Heparan sulfate excretion in urine | |
| HP:0002240 | Hepatomegaly | |
| HP:0001609 | Hoarse voice | |
| HP:0000023 | Inguinal hernia | |
| HP:0004582 | Irregularity of vertebral bodies | |
| HP:0000158 | Macroglossia | |
| HP:0001268 | Mental deterioration | |
| HP:0011369 | Mongolian blue spot | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0410018 | Recurrent ear infections | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0000546 | Retinal degeneration | |
| HP:0000488 | Retinopathy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002360 | Sleep abnormality | |
| HP:0010535 | Sleep apnea | |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0001744 | Splenomegaly | |
| HP:0012471 | Thick vermilion border | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0010656 | Abnormal epiphyseal ossification | |
| HP:0030466 | Abnormal full-field electroretinogram | |
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0031416 | Abnormal nasal mucus secretion | |
| HP:0001641 | Abnormal pulmonary valve morphology | |
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001334 | Communicating hydrocephalus | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0007957 | Corneal opacity | |
| HP:0001263 | Global developmental delay | |
| HP:0001385 | Hip dysplasia | |
| HP:0008843 | Hip osteoarthritis | |
| HP:0000752 | Hyperactivity | |
| HP:0003552 | Muscle stiffness | |
| HP:0000648 | Optic atrophy | |
| HP:0000362 | Otosclerosis | |
| HP:0001085 | Papilledema | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0002176 | Spinal cord compression | |
| HP:0012478 | Temporomandibular joint ankylosis | |
| HP:0002781 | Upper airway obstruction | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Very rare (<4-1%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0000718 | Aggressive behavior | |
| HP:0011675 | Arrhythmia | |
| HP:0000822 | Hypertension | |
| HP:0100710 | Impulsivity | |
| HP:0001129 | Large central visual field defect | |
| HP:0001250 | Seizure | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301451[PMID]_31890590[PMID]_12828746[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/580
- This record as JSON: /data/d/580.json