ORPHA:581
Mucopolysaccharidosis type 3
Synonyms: MPS3 · MPSIII · Mucopolysaccharidosis type III · Sanfilippo disease · Sanfilippo syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A group of rare lysosomal storage diseases characterized by progressive neurocognitive decline, loss of functional abilities and premature death. There are four etiological subtypes of mucopolysaccharidosis type 3 (MPS III, Sanfilippo syndrome) called Sanfilippo syndrome type A, B, C, and D. Each subtype is caused by deficiency of a particular enzyme involved in the degradation of heparan sulfate leading to substrate accumulation and cellular dysfunction.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 3 | MPS3 · MPSIII · Mucopolysaccharidosis type III · Sanfilippo disease · Sanfilippo syndrome |
| fr | Mucopolysaccharidose type 3 | MPS3 · MPSIII · Maladie de Sanfilippo · Mucopolysaccharidose type III · Syndrome de Sanfilippo |
| de | Mukopolysaccharidose Typ 3 | MPS III · MPS3 · Mukopolysaccharidose Typ III · Sanfilippo-Krankheit · Sanfilippo-Syndrom |
| es | Mucopolisacaridosis tipo 3 | Enfermedad de Sanfilippo · MPS3 · MPSIII · Mucopolisacaridosis tipo III · Síndrome de Sanfilippo |
| it | Mucopolisaccaridosi tipo 3 | MPS3 · MPSIII · Malattia di Sanfilippo · Mucopolisaccaridosi, tipo III · Mucopolisaccaridosi tipo III · Sindrome di Sanfilippo |
| nl | Mucopolysacharidose type 3 | MPS3 · MPSIII · Mucopolysacharidose type III · Syndroom van Sanfilippo · Ziekte van Sanfilippo |
| pt | Mucopolissacaridose tipo 3 | Doença Sanfilippo · MPS3 · MPSIII · Mucopolissacaridose tipo III · Síndrome Sanfilippo |
| pl | Mukopolisacharydoza typu 3 | Choroba Sanfilippo · MPS3 · MPSIII · Mukopolisacharydoza typu III |
| cs | Mukopolysacharidóza, typ 3 | MPS3 · MPSIII · Mukopolysacharidóza, typ III · Sanfilippova nemoc |
| uk | Мукополісахаридоз, тип 3 | MPS3 · MPSIII · Мукополісахаридоз III типу · Хвороба Санфіліппо |
| zh | 粘多糖贮积症3型 | 粘多糖贮积症III型 |
| tr | Mukopolisakkaridoz tip 3 | MPS3 · MPSIII · Sanfilippo hastalığı · Mukopolisakkaridoz tip III |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252900 | BTNT | validated | |
| OMIM | 252920 | BTNT | validated | |
| OMIM | 252930 | BTNT | validated | |
| OMIM | 252940 | BTNT | validated | |
| ICD-10 | E76.2 | NTBT | inclusion | validated |
| ICD-11 | 5C56.3Y | NTBT | index | validated |
| MONDO | 0018937 | E | validated | |
| MeSH | D009084 | E | validated | |
| UMLS | C0026706 | E | validated | |
| GARD | 3807 | E | validated | |
| MedDRA | 10056890 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:225681Lysosomal disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
4
Genes
0 direct · 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| GNS | ORPHA:79272Sanfilippo syndrome type D | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4422 | ENSG00000135677 | 607664 | 12q14.3 | glucosamine (N-acetyl)-6-sulfatase | 12573255[PMID]_17998446[PMID] |
| HGSNAT | ORPHA:79271Sanfilippo syndrome type C | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26527 | ENSG00000165102 | 610453 | 8p11.21-p11.1 | heparan-alpha-glucosaminide N-acetyltransferase | 17033958[PMID] |
| NAGLU | ORPHA:79270Sanfilippo syndrome type B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7632 | ENSG00000108784 | 609701 | 17q21.2 | N-acetyl-alpha-glucosaminidase | 16151907[PMID] |
| SGSH | ORPHA:79269Sanfilippo syndrome type A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10818 | ENSG00000181523 | 605270 | 17q25.3 | N-sulfoglucosamine sulfohydrolase | 15146460[PMID] |
5
Prevalence and incidence
29 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.21 / 100 000 | Brazil | Value and class | Validated | 31926052[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.63 / 100 000 | Sweden | Value and class | Validated | 18681890[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.27 / 100 000 | Norway | Value and class | Validated | 18681890[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.88 / 100 000 | Norway | Value and class | Validated | 18681890[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.43 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.92 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.36 / 100 000 | Ireland | Value and class | Validated | 9439667[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 / 100 000 | Canada | Value and class | Validated | 10617747[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.39 / 100 000 | Taiwan, Province of China | Value and class | Validated | 19396827[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Tunisia | Value and class | Validated | 20209839[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2012[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.87 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.57 / 100 000 | Germany | Value and class | Validated | 16435194[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.84 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.89 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.42 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.91 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.84 / 100 000 | Sweden | Value and class | Validated | 18681890[PMID]_25274184[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.86 / 100 000 | Poland | Value and class | Validated | 25472774[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.26 / 100 000 | Japan | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | Switzerland | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.8 / 100 000 | Saudi Arabia | Value and class | Validated | 20622343[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 / 100 000 | Korea, Republic of | Value and class | Validated | 25364648[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.62 / 100 000 | Estonia | Value and class | Validated | 22480138[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.071 / 100 000 | United States | Value and class | Validated | 34051828[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 / 100 000 | 2.4 / 100 000 | Israel | Value and class | Validated | 33239050[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 4.8 / 100 000 | Specific population | Value and class | Validated | 33239050[PMID]_ORPHANET |
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
106 annotations · validated 2020-04-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007009 | Central nervous system degeneration | |
| HP:0000389 | Chronic otitis media | |
| HP:0002208 | Coarse hair | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002230 | Generalized hirsutism | |
| HP:0006887 | Intellectual disability, progressive | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002024 | Malabsorption | |
| HP:0008155 | Mucopolysacchariduria | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0002360 | Sleep abnormality | |
| HP:0003541 | Urinary glycosaminoglycan excretion | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0031458 | Adenoiditis | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000518 | Cataract | |
| HP:0000280 | Coarse facial features | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0002376 | Developmental regression | |
| HP:0001288 | Gait disturbance | |
| HP:0002857 | Genu valgum | |
| HP:0000365 | Hearing impairment | |
| HP:0002159 | Heparan sulfate excretion in urine | |
| HP:0002240 | Hepatomegaly | |
| HP:0001007 | Hirsutism | |
| HP:0000752 | Hyperactivity | |
| HP:0001276 | Hypertonia | |
| HP:0002254 | Intermittent diarrhea | |
| HP:0000545 | Myopia | |
| HP:0000388 | Otitis media | |
| HP:0005425 | Recurrent sinopulmonary infections | |
| HP:0011110 | Recurrent tonsillitis | |
| HP:0011947 | Respiratory tract infection | |
| HP:0001328 | Specific learning disability | |
| HP:0001744 | Splenomegaly | |
| HP:0000664 | Synophrys | |
| HP:0100874 | Thick hair | |
| HP:0001604 | Vocal cord paresis | |
| Occasional (29-5%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0004452 | Abnormality of the middle ear ossicles | |
| HP:0000718 | Aggressive behavior | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0001678 | Atrioventricular block | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0001640 | Cardiomegaly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002019 | Constipation | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0000726 | Dementia | |
| HP:0000268 | Dolichocephaly | |
| HP:0001260 | Dysarthria | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0002015 | Dysphagia | |
| HP:0030195 | Fatigable weakness of swallowing muscles | |
| HP:0001371 | Flexion contracture | |
| HP:0001385 | Hip dysplasia | |
| HP:0030838 | Hip pain | |
| HP:0000238 | Hydrocephalus | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0000023 | Inguinal hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0001387 | Joint stiffness | |
| HP:0002505 | Loss of ambulation | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0000256 | Macrocephaly | |
| HP:0000158 | Macroglossia | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0001270 | Motor delay | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0001538 | Protuberant abdomen | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001257 | Spasticity | |
| HP:0009928 | Thick nasal alae | |
| HP:0012471 | Thick vermilion border | |
| HP:0000391 | Thickened helices | |
| HP:0001537 | Umbilical hernia | |
| HP:0002781 | Upper airway obstruction | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:5200321 | Amplification of sexual behavior | |
| HP:0000618 | Blindness | |
| HP:0001133 | Constriction of peripheral visual field | |
| HP:0007957 | Corneal opacity | |
| HP:0000734 | Disinhibition | |
| HP:0000710 | Hyperorality | |
| HP:0000662 | Nyctalopia | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0000648 | Optic atrophy | |
| HP:0000546 | Retinal degeneration | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25851924[PMID]_31536183[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/581
- This record as JSON: /data/d/581.json