ORPHA:423461
Mucolipidosis type III alpha/beta
Synonyms: ML 3 alpha/beta · ML III alpha/beta · Mucolipidosis type 3 alpha/beta
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucolipidosis type III alpha/beta | ML 3 alpha/beta · ML III alpha/beta · Mucolipidosis type 3 alpha/beta |
| fr | Mucolipidose type III alpha/bêta | ML 3 alpha/bêta · ML III alpha/bêta · Mucolipidose type 3 alpha/bêta |
| de | Mukolipidose Typ III alpha/beta | ML 3 alpha/beta · ML III alpha/beta · Mukolipidose Typ 3 alpha/beta |
| es | Mucolipidosis tipo III alfa/beta | ML 3 alfa/beta · ML III alfa/beta · Mucolipidosis tipo 3 alfa/beta |
| it | Mucolipidosi, tipo III alfa/beta | ML 3 alfa/beta · ML III alfa/beta · Mucolipidosi, tipo 3 alfa/beta |
| nl | Mucolipidose type III alfa/bèta | ML 3 alfa/bèta · ML III alfa/bèta · Mucolipidose type 3 alfa/bèta |
| pt | Mucolipidose tipo III alfa/beta | ML 3 alfa/beta · ML III alfa/beta · Mucolipidose tipo 3 alfa/beta |
| pl | Mukolipidoza typu III alfa/beta | ML 3 alfa/beta · ML III alfa/beta · Mukolipidoza typu 3 alfa/beta |
| cs | Mukolipidóza, typ III alfa/beta | ML 3 alfa/beta · ML III alfa/beta · Mukolipidóza, typ 3 alfa/beta |
| uk | Муколіпідоз, тип III альфа/бета | ML 3 альфа/бета · ML III альфа/бета · Муколіпідоз типу 3 альфа/бета |
| zh | 粘脂质贮积症III型αβ | 粘脂质累积3型 alpha/beta |
| tr | Mukolipidoz tip III alfa/beta | ML 3 alfa/beta · ML III alfa/beta · Mukolipidoz tip 3 alfa/beta |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252600 | E | validated | |
| ICD-10 | E77.0 | NTBT | attributed | validated |
| ICD-11 | 5C56.20 | NTBT | attributed | validated |
| MONDO | 0018931 | 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 (1):
- ORPHA:577Mucolipidosis type III
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNPTAB | 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] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 13 / 100 000 | Worldwide | Value and class | Validated | 20301730[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
36 annotations · validated 2023-08-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001387 | Joint stiffness | |
| HP:0010471 | Oligosacchariduria | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0009023 | Abdominal wall muscle weakness | |
| HP:0001659 | Aortic regurgitation | |
| HP:0002653 | Bone pain | |
| HP:0000280 | Coarse facial features | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0000286 | Epicanthus | |
| HP:0001371 | Flexion contracture | |
| HP:0000293 | Full cheeks | |
| HP:0001288 | Gait disturbance | |
| HP:0040160 | Generalized osteoporosis | |
| HP:0000212 | Gingival overgrowth | |
| HP:0012069 | Keratan sulfate excretion in urine | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000403 | Recurrent otitis media | |
| HP:0000470 | Short neck | |
| HP:0001072 | Thickened skin | |
| Occasional (29-5%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001635 | Congestive heart failure | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0007957 | Corneal opacity | |
| HP:0001540 | Diastasis recti | |
| HP:0001609 | Hoarse voice | |
| HP:0002505 | Loss of ambulation | |
| HP:0002797 | Osteolysis | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0001537 | Umbilical hernia | |
| Very rare (<4-1%) | ||
| HP:0000520 | Proptosis | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301728[PMID]_20301730[PMID]_29704188[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/423461
- This record as JSON: /data/d/423461.json