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
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ICD-10: |
Q83.0 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Deficient breast volume or number
-Rare gynecologic or obstetric disease |
Symptom Information:
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(HPO:0000453) | Choanal atresia | rare [HPO:skoehler] | 76 / 7739 | |||
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(HPO:0002561) | Absent nipple | 12 / 7739 | ||||
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(HPO:0010311) | Aplasia/Hypoplasia of the breasts | 1 / 7739 | ||||
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(OMIM) | Breast and nipple hypoplasia/aplasia | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |