ORPHA:180188
Isolated congenital breast hypoplasia/aplasia
Synonyms: Isolated congenital amastia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital breast hypoplasia/aplasia | Isolated congenital amastia |
| fr | Hypoplasie/aplasie mammaire congénitale isolée | Amastie congénitale isolée |
| de | Mammaaplasie/-hypoplasie, isolierte kongenitale | Amastie, isolierte kongenitale |
| es | Aplasia/hipoplasia mamaria congénita aislada | Amastia congénita aislada |
| it | Ipoplasia/aplasia mammaria congenita isolata | Amastia congenita isolata |
| nl | Geïsoleerde congenitale borsthypoplasie/aplasie | Geïsoleerde congenitale amastie |
| pt | Aplasia mamária | |
| pl | Izolowana wrodzona hipoplazja/aplazja piersi | = en |
| cs | Izolovaná vrozená hypoplázie/aplázie prsu | Izolovaná vrozená amastie |
| uk | Ізольована вроджена гіпоплазія/аплазія молочної залози | Ізольована вроджена амастія |
| zh | 孤立性先天性乳房发育不全/未发育 | 孤立性先天性无乳房 |
| tr | İzole doğumsal meme hipoplazisi / aplazi | İzole doğumsal amasti |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113700 | BTNT | validated | |
| OMIM | 616001 | BTNT | validated | |
| ICD-10 | Q83.0 | E | specific | validated |
| ICD-11 | LB60 | E | specific | validated |
| MONDO | 0015855 | E | validated | |
| MeSH | C562989 | E | validated | |
| UMLS | C0432357 | E | validated | |
| GARD | 9489 | 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 (2):
- ORPHA:180173Deficient breast volume or number
rare gynecological and obstetric diseases - ORPHA:183731Rare genetic gynecological and obstetrical diseases
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTPRF | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9670 | ENSG00000142949 | 179590 | 1p34.2 | protein tyrosine phosphatase receptor type F | 24781087[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/180188
- This record as JSON: /data/d/180188.json