ORPHA:168612
Congenital deficiency in alpha-fetoprotein
- Type
- Biological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital deficiency in alpha-fetoprotein | |
| fr | Déficit congénital en alpha-foetoprotéine | |
| de | Alpha-Fetoprotein-Mangel, kongenitaler | |
| es | Deficiencia congénita de alfa-fetoproteína | |
| it | Deficit congenito di alfa-feto-proteina | |
| nl | Congenitale deficiëntie van alfa-foetoproteïne | |
| pt | Deficiência congénita de alfa-fetoproteína | |
| pl | Wrodzony Niedobór alfa-fetoproteiny | |
| cs | Vrozený deficit alfa-fetoproteinu | |
| uk | Вроджений дефіцит альфа-фетопротеїну | |
| zh | 先天性甲胎蛋白缺乏症 | |
| tr | Doğumsal alfa-fetoprotein eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615969 | E | validated | |
| ICD-10 | R77.2 | NTBT | attributed | not yet validated |
| MONDO | 0014424 | E | validated | |
| UMLS | C4274336 | 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 (1):
- ORPHA:447874Biological anomaly without phenotypic characterization
rare genetic diseases
No children.
4
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 | 15280901[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 18854864[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18854864[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
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168612
- This record as JSON: /data/d/168612.json