MCID: MLT120
MIFTS: 15

Multiple Fibroadenomas of the Breast

Categories: Genetic diseases, Reproductive diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Multiple Fibroadenomas of the Breast

MalaCards integrated aliases for Multiple Fibroadenomas of the Breast:

Name: Multiple Fibroadenomas of the Breast 57 75 29 6 73
Mfab 57 75
Multiple Fibroadenoma of the Breast 59
Fibroadenomas, Breast, Multiple 40
Mammary Polyadenomatosis 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
multiple fibroadenomas of the breast:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615554
Orphanet 59 ORPHA50920
ICD10 via Orphanet 34 D24
MeSH 44 D018226
SNOMED-CT via HPO 69 263681008
UMLS 73 C3809918

Summaries for Multiple Fibroadenomas of the Breast

UniProtKB/Swiss-Prot : 75 Multiple fibroadenomas of the breast: A benign breast disease marked by lobuloalveolar growth with abnormally high proliferation of the epithelium, and characterized by the presence of more than 3 fibroadenomas in one breast. Fibroadenomas are adenomas containing fibrous tissue.

MalaCards based summary : Multiple Fibroadenomas of the Breast, is also known as mfab. An important gene associated with Multiple Fibroadenomas of the Breast is PRLR (Prolactin Receptor). Affiliated tissues include breast.

OMIM : 57 Fibroadenoma represents a benign breast disease characterized by lobuloalveolar growth with abnormally high proliferation of the epithelium. Patients with more than 3 fibroadenomas in 1 breast are considered to have multiple fibroadenomas (summary by Bogorad et al., 2008). (615554)

Related Diseases for Multiple Fibroadenomas of the Breast

Diseases in the Breast Fibroadenoma family:

Multiple Fibroadenomas of the Breast

Symptoms & Phenotypes for Multiple Fibroadenomas of the Breast

Symptoms via clinical synopsis from OMIM:

57
Chest Breasts:
more than 3 fibroadenomas in a single breast


Clinical features from OMIM:

615554

Drugs & Therapeutics for Multiple Fibroadenomas of the Breast

Search Clinical Trials , NIH Clinical Center for Multiple Fibroadenomas of the Breast

Genetic Tests for Multiple Fibroadenomas of the Breast

Genetic tests related to Multiple Fibroadenomas of the Breast:

# Genetic test Affiliating Genes
1 Multiple Fibroadenomas of the Breast 29 PRLR

Anatomical Context for Multiple Fibroadenomas of the Breast

MalaCards organs/tissues related to Multiple Fibroadenomas of the Breast:

41
Breast

Publications for Multiple Fibroadenomas of the Breast

Variations for Multiple Fibroadenomas of the Breast

UniProtKB/Swiss-Prot genetic disease variations for Multiple Fibroadenomas of the Breast:

75
# Symbol AA change Variation ID SNP ID
1 PRLR p.Ile170Leu VAR_070894 rs72478580

ClinVar genetic disease variations for Multiple Fibroadenomas of the Breast:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRLR NM_000949.6(PRLR): c.508A> C (p.Ile170Leu) single nucleotide variant Pathogenic rs72478580 GRCh37 Chromosome 5, 35072712: 35072712
2 PRLR NM_000949.6(PRLR): c.508A> C (p.Ile170Leu) single nucleotide variant Pathogenic rs72478580 GRCh38 Chromosome 5, 35072610: 35072610

Expression for Multiple Fibroadenomas of the Breast

Search GEO for disease gene expression data for Multiple Fibroadenomas of the Breast.

Pathways for Multiple Fibroadenomas of the Breast

GO Terms for Multiple Fibroadenomas of the Breast

Sources for Multiple Fibroadenomas of the Breast

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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