ORPHA:35121
Lysosomal acid phosphatase deficiency
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1970.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lysosomal acid phosphatase deficiency | |
| fr | Déficit en phosphatase acide lysosomale | |
| de | Saure Phosphatase-Mangel, lysosomaler | |
| es | Deficiencia de fosfatasa ácida lisosomal | |
| it | Deficit di fosfatasi acida lisosomiale | |
| nl | Lysosomale zure fosfatasedeficiëntie | |
| pt | Deficiência de fosfatase ácida lisossomal | |
| pl | Niedobór kwaśnej fosfatazy | |
| cs | Deficit kyselé fosfatázy | |
| uk | Дефіцит лізосомальної кислої фосфатази | |
| zh | 溶酶体酸性磷酸酶缺乏症 | |
| tr | Lizozomal asit fosfataz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200950 | E | validated | |
| ICD-10 | E83.3 | NTBT | inclusion | validated |
| ICD-11 | 5C64.3 | NTBT | index | validated |
| MONDO | 0008705 | E | validated | |
| UMLS | C0268410 | 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:68366Lysosomal disease
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35121
- This record as JSON: /data/d/35121.json