ORPHA:61
Alpha-mannosidosis
Synonyms: Lysosomal alpha-D-mannosidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-mannosidosis | Lysosomal alpha-D-mannosidase deficiency |
| fr | Alpha-mannosidose | Déficit en alpha-D-mannosidase lysosomale |
| de | Alpha-Mannosidose | Alpha-D Mannosidase-Mangel, lyosomaler |
| es | Alfa-manosidosis | Deficiencia de alfa-D-manosidasa lisosomal |
| it | Alfa-mannosidosi | Deficit di alfa-D-mannosidosi lisosomiale |
| nl | Alfa-mannosidose | Lysosomale alfa-D-mannosidasedeficiëntie |
| pt | Alfa-manosidose | Deficiência de alfa-D-manosidase lisossomal |
| pl | Alfa-mannozydoza | Niedobór lizosomalnej alfa-D mannozydazy |
| cs | Alfa-mannosidóza | Deficit lysosomální alfa-D-mannosidázy |
| uk | Альфа-маннозидоз | Дефіцит лізосомальної альфа-D-манозидази |
| zh | α-甘露糖苷贮积症 | 溶酶体α-D-甘露糖苷酶缺乏症 |
| tr | Alfa-mannosidoz | Lizozomal alfa-D-mannosidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248500 | E | validated | |
| ICD-10 | E77.1 | NTBT | inclusion | validated |
| ICD-11 | 5C56.21 | NTBT | index | validated |
| MONDO | 0009561 | E | validated | |
| MeSH | D008363 | E | validated | |
| UMLS | C0024748 | E | validated | |
| GARD | 6968 | E | validated | |
| MedDRA | 10083855 | 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 (5):
- 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79215Oligosaccharidosis
rare inborn errors of metabolism; rare genetic diseases - 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 |
|---|---|---|---|---|---|---|---|---|---|
| MAN2B1 | ORPHA:309282Alpha-mannosidosis, infantile form | Disease-causing germline mutation(s) in | Assessed | HGNC:6826 | ENSG00000104774 | 609458 | 19p13.13 | mannosidase alpha class 2B member 1 | 19958498[PMID] |
| MAN2B1 | ORPHA:309288Alpha-mannosidosis, adult form | Disease-causing germline mutation(s) in | Assessed | HGNC:6826 | ENSG00000104774 | 609458 | 19p13.13 | mannosidase alpha class 2B member 1 | 19958498[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2005[OTHER] |
| Prevalence at birth | <1 / 1 000 000 | 0.09 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 / 100 000 | Norway | Value and class | Not yet validated | 7900112[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.09 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.12 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.07 / 100 000 | Sweden | Value and class | Validated | 25274184[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.
6
HPO phenotypes
43 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000518 | Cataract | |
| HP:0000280 | Coarse facial features | |
| HP:0007957 | Corneal opacity | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002240 | Hepatomegaly | |
| HP:0008821 | Hypoplastic inferior ilia | |
| HP:0001249 | Intellectual disability | |
| HP:0000158 | Macroglossia | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001744 | Splenomegaly | |
| HP:0005978 | Type II diabetes mellitus | |
| Frequent (79-30%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0000708 | Atypical behavior | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000389 | Chronic otitis media | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001385 | Hip dysplasia | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0002808 | Kyphosis | |
| HP:0000400 | Macrotia | |
| HP:0000189 | Narrow palate | |
| HP:0010807 | Open bite | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| Occasional (29-5%) | ||
| HP:0001369 | Arthritis | |
| HP:0010885 | Avascular necrosis | |
| HP:0000689 | Dental malocclusion | |
| HP:0000738 | Hallucinations | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0000256 | Macrocephaly | |
| HP:0000303 | Mandibular prognathia | |
| HP:0011369 | Mongolian blue spot | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0100240 | Synostosis of joints | |
| HP:0000687 | Widely spaced teeth | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 23760316[PMID]_12873889[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/61
- This record as JSON: /data/d/61.json