Mucolipidosis type III
Synonyms: Pseudo-Hurler polydystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucolipidosis type III | Pseudo-Hurler polydystrophy |
| fr | Mucolipidose type III | Pseudopolydystrophie de Hurler |
| de | Mukolipidose Typ III | Pseudo-Hurler-Polydystrophie |
| es | Mucolipidosis tipo III | Pseudopolidistrofia de Hurler |
| it | Mucolipidosi tipo III | Polidistrofia pseudo-Hurler |
| nl | Mucolipidose type III | Pseudo-Hurler polydystrofie |
| pt | Mucolipidose tipo III | Polidistrofia pseudo-Hurler |
| pl | Mukolipidoza typu III | Polidystrofia pseudo-Hurler |
| cs | Mukolipidóza, typ III | Pseudo-Hurlerové polydystrofie |
| uk | Муколіпідоз, тип III | Псевдо-Гурлерівська полідистрофія |
| zh | 粘脂贮积症III型 | 假性胡尔勒多种营养不良 |
| tr | Mukolipidoz tip III | Psödo-Hurler polidistrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252600 | BTNT | validated | |
| OMIM | 252605 | BTNT | validated | |
| ICD-10 | E77.0 | NTBT | inclusion | validated |
| ICD-11 | 5C56.20 | NTBT | index | validated |
| UMLS | C0033788 | E | validated | |
| GARD | 3806 | E | validated | |
| MedDRA | 10072929 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone diseases - ORPHA:79212Mucolipidosis
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases
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 |
|---|---|---|---|---|---|---|---|---|---|
| GNPTAB | ORPHA:423461Mucolipidosis type III alpha/beta | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29670 | ENSG00000111670 | 607840 | 12q23.2 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 18425436[PMID] |
| GNPTG | ORPHA:423470Mucolipidosis type III gamma | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23026 | ENSG00000090581 | 607838 | 16p13.3 | N-acetylglucosamine-1-phosphate transferase subunit gamma | 20034096[PMID]_19708128[PMID] |
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.985 / 100 000 | Europe | Value and class | Validated | 10480370[PMID]_ 14685153[PMID]_ ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.08 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 1.68 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Point prevalence | 1-5 / 10 000 | 29.55 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 2.4 / 100 000 | Netherlands | Value and class | Validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 50.4 / 100 000 | Portugal | Value and class | Validated | 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.
HPO phenotypes
36 annotations · validated 2024-07-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0003264 | Deficiency of N-acetylglucosamine-1-phosphotransferase | |
| HP:0008821 | Hypoplastic inferior ilia | |
| HP:0001387 | Joint stiffness | |
| HP:0008818 | Large iliac wings | |
| HP:0000269 | Prominent occiput | |
| HP:0004322 | Short stature | |
| HP:0025261 | Stiff finger | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0009837 | Bullet-shaped distal phalanges of the hand | |
| HP:0012532 | Chronic pain | |
| HP:0034337 | Claw hand deformity | |
| HP:0000280 | Coarse facial features | |
| HP:0100543 | Cognitive impairment | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0007957 | Corneal opacity | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0002857 | Genu valgum | |
| HP:0001385 | Hip dysplasia | |
| HP:0003307 | Hyperlordosis | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0002758 | Osteoarthritis | |
| HP:0000938 | Osteopenia | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0000885 | Broad ribs | |
| HP:0012378 | Fatigue | |
| HP:0001653 | Mitral regurgitation | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0002176 | Spinal cord compression | |
| HP:0001072 | Thickened skin | |
| HP:0002515 | Waddling gait | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 20301784[PMID]_29704188[PMID]_36869440[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/577
- This record as JSON: /data/d/577.json