MFAB
MCID: MLT120
MIFTS: 15

Multiple Fibroadenomas of the Breast (MFAB)

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

Aliases & Classifications for Multiple Fibroadenomas of the Breast

MalaCards integrated aliases for Multiple Fibroadenomas of the Breast:

Name: Multiple Fibroadenomas of the Breast 58 76 30 6 74
Mfab 58 76
Multiple Fibroadenoma of the Breast 60
Fibroadenomas, Breast, Multiple 41
Mammary Polyadenomatosis 60

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
multiple fibroadenomas of the breast:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615554
MeSH 45 D018226
ICD10 via Orphanet 35 D24
Orphanet 60 ORPHA50920
SNOMED-CT via HPO 70 263681008
UMLS 74 C3809918

Summaries for Multiple Fibroadenomas of the Breast

UniProtKB/Swiss-Prot : 76 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 : 58 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:

58
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 30 PRLR

Anatomical Context for Multiple Fibroadenomas of the Breast

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

42
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:

76
# 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_000949.7(PRLR): c.508A> C (p.Ile170Leu) single nucleotide variant Pathogenic rs72478580 GRCh37 Chromosome 5, 35072712: 35072712
2 PRLR NM_000949.7(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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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