Isolated breast aplasia

General Information (adopted from Orphanet):

Synonyms, Signs: AMAZIA, INCLUDED
AMASTIA ATHELIA, INCLUDED
Isolated amastia
Number of Symptoms 6
OrphanetNr: 180188
OMIM Id: 113700
ICD-10: Q83.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Deficient breast volume or number
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
(HPO:0000453) Choanal atresia rare [HPO:skoehler] 76 / 7739
2
(HPO:0002561) Absent nipple 12 / 7739
3
(HPO:0010311) Aplasia/Hypoplasia of the breasts 1 / 7739
4
(OMIM) Breast and nipple hypoplasia/aplasia 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Absence of the breasts and nipples may occur as an isolated anomaly or as part of a syndrome. Hypoplasia or aplasia of the breasts and nipples occurs in anhidrotic ectodermal dysplasia (305100). Absence of the breast also occurs ...
Clinical Description OMIM Goldenring and Crelin (1961) described absence of breast and nipples in a mother and daughter, as did Trier (1965).

Greenberg (1987) described an infant girl with athelia (absence of the nipples) and choanal atresia, born to ...