ORPHA:168615
Hereditary persistence of alpha-fetoprotein
- Type
- Biological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent
- Status
- active
Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary persistence of alpha-fetoprotein | |
| fr | Persistence héréditaire de l'alpha-foetoprotéine | |
| de | Hereditäre Persistenz des Alpha-Fetoproteins | |
| es | Persistencia hereditaria de alfa-fetoproteína | |
| it | Persistenza ereditaria dell'alfa-fetoproteina | |
| nl | Hereditaire persistentie van alfa-foetoproteïne | |
| pt | Persistência hereditária de alfa-fetoproteína | |
| pl | Dziedziczna przetrwała alfa-fetoproteina | |
| cs | Dědičné přetrvávání alfa-fetoproteinu | |
| uk | Спадкова персистенція альфа-фетопротеїну | |
| zh | 遗传性持久性甲胎蛋白 | |
| tr | Kalıtsal alfa-fetoprotein kalıcılığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615970 | E | validated | |
| ICD-10 | R77.2 | NTBT | attributed | not yet validated |
| MONDO | 0014425 | E | validated | |
| UMLS | C1863080 | 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:447874Biological anomaly without phenotypic characterization
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AFP | Disease-causing germline mutation(s) in | Assessed | HGNC:317 | ENSG00000081051 | 104150 | 4q13.3 | alpha fetoprotein | 7684942[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 families | Worldwide | Family(ies) | Validated | 21116028[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21116028[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
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/168615
- This record as JSON: /data/d/168615.json