MCID: FNC045
MIFTS: 36

Fanconi Anemia, Complementation Group F

Categories: Genetic diseases, Blood diseases, Rare diseases, Skin diseases, Nephrological diseases, Cancer diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group F

MalaCards integrated aliases for Fanconi Anemia, Complementation Group F:

Name: Fanconi Anemia, Complementation Group F 57 29 13 13 6 40 73
Fancf 57 12 75
Fanconi Anemia Complementation Group F 12 75

Characteristics:

HPO:

32
fanconi anemia, complementation group f:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 603467
Disease Ontology 12 DOID:0111088
MeSH 44 D005199
SNOMED-CT via HPO 69 258211005
UMLS 73 C3469526

Summaries for Fanconi Anemia, Complementation Group F

OMIM : 57 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (603467)

MalaCards based summary : Fanconi Anemia, Complementation Group F, also known as fancf, is related to fanconi anemia, complementation group a and breast cancer. An important gene associated with Fanconi Anemia, Complementation Group F is FANCF (FA Complementation Group F), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone marrow, bone and breast, and related phenotypes are abnormality of chromosome stability and bone marrow hypocellularity

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15.

UniProtKB/Swiss-Prot : 75 Fanconi anemia complementation group F: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Related Diseases for Fanconi Anemia, Complementation Group F

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group F:



Diseases related to Fanconi Anemia, Complementation Group F

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group F

Clinical features from OMIM:

603467

Human phenotypes related to Fanconi Anemia, Complementation Group F:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of chromosome stability 32 HP:0003220
2 bone marrow hypocellularity 32 HP:0005528

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group F according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 10.03 FANCC FANCF GAS2
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 10.03 FANCC FANCF GAS2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.86 BRCA2 FANCA FANCD2 GAS2
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.86 BRCA2 FANCA FANCD2 GAS2
5 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.63 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
6 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.5 FANCC FANCF GAS2
7 Synthetic lethal with Ras GR00018-A-0 8.92 BRCA2 FANCA FANCC FANCD2

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group F:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 FANCD2 FANCF FANCG BRCA2 FANCA FANCC
2 endocrine/exocrine gland MP:0005379 9.63 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
3 neoplasm MP:0002006 9.26 BRCA2 FANCA FANCD2 FANCF
4 reproductive system MP:0005389 9.1 BRCA2 FANCA FANCC FANCD2 FANCF FANCG

Drugs & Therapeutics for Fanconi Anemia, Complementation Group F

Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group F

Genetic Tests for Fanconi Anemia, Complementation Group F

Genetic tests related to Fanconi Anemia, Complementation Group F:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group F 29 FANCF

Anatomical Context for Fanconi Anemia, Complementation Group F

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group F:

41
Bone Marrow, Bone, Breast

Publications for Fanconi Anemia, Complementation Group F

Articles related to Fanconi Anemia, Complementation Group F:

# Title Authors Year
1
Silencing of fanconi anemia complementation group f exhibits potent chemosensitization of mitomycin C activity in breast cancer cells. ( 24155758 )
2013
2
Function of the Fanconi anemia pathway in Fanconi anemia complementation group F and D1 cells. ( 11750104 )
2001

Variations for Fanconi Anemia, Complementation Group F

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group F:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCF NM_022725.3(FANCF): c.230_252del23 (p.Val77Glyfs) deletion Pathogenic rs730880277 GRCh37 Chromosome 11, 22647105: 22647127
2 FANCF NM_022725.3(FANCF): c.230_252del23 (p.Val77Glyfs) deletion Pathogenic rs730880277 GRCh38 Chromosome 11, 22625559: 22625581
3 FANCF NM_022725.3(FANCF): c.349_395del47 (p.Gly120Profs) deletion Pathogenic rs730880278 GRCh37 Chromosome 11, 22646962: 22647008
4 FANCF NM_022725.3(FANCF): c.349_395del47 (p.Gly120Profs) deletion Pathogenic rs730880278 GRCh38 Chromosome 11, 22625416: 22625462
5 FANCF NM_022725.3(FANCF): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs104894221 GRCh37 Chromosome 11, 22647341: 22647341
6 FANCF NM_022725.3(FANCF): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs104894221 GRCh38 Chromosome 11, 22625795: 22625795
7 FANCF NM_022725.3(FANCF): c.484_485delCT (p.Leu162Aspfs) deletion Likely pathogenic rs587778340 GRCh37 Chromosome 11, 22646872: 22646873
8 FANCF NM_022725.3(FANCF): c.484_485delCT (p.Leu162Aspfs) deletion Likely pathogenic rs587778340 GRCh38 Chromosome 11, 22625326: 22625327
9 FANCF NM_022725.3(FANCF): c.327C> G (p.Tyr109Ter) single nucleotide variant Pathogenic rs104894222 GRCh37 Chromosome 11, 22647030: 22647030
10 FANCF NM_022725.3(FANCF): c.327C> G (p.Tyr109Ter) single nucleotide variant Pathogenic rs104894222 GRCh38 Chromosome 11, 22625484: 22625484
11 FANCF NM_022725.3(FANCF): c.690delT (p.Gly231Glufs) deletion Likely pathogenic rs747622521 GRCh37 Chromosome 11, 22646667: 22646667
12 FANCF NM_022725.3(FANCF): c.690delT (p.Gly231Glufs) deletion Likely pathogenic rs747622521 GRCh38 Chromosome 11, 22625121: 22625121

Expression for Fanconi Anemia, Complementation Group F

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group F.

Pathways for Fanconi Anemia, Complementation Group F

GO Terms for Fanconi Anemia, Complementation Group F

Cellular components related to Fanconi Anemia, Complementation Group F according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.43 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
2 Fanconi anaemia nuclear complex GO:0043240 8.92 FANCA FANCC FANCF FANCG

Biological processes related to Fanconi Anemia, Complementation Group F according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.73 BRCA2 FANCD2 GAS2
2 cellular response to DNA damage stimulus GO:0006974 9.63 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
3 protein-containing complex assembly GO:0065003 9.55 FANCA FANCC
4 cellular response to oxidative stress GO:0034599 9.54 FANCC FANCD2
5 regulation of inflammatory response GO:0050727 9.52 FANCA FANCD2
6 nucleotide-excision repair GO:0006289 9.51 BRCA2 FANCC
7 response to gamma radiation GO:0010332 9.49 BRCA2 FANCD2
8 regulation of DNA binding transcription factor activity GO:0051090 9.48 FANCA FANCD2
9 female gonad development GO:0008585 9.46 BRCA2 FANCA
10 neuronal stem cell population maintenance GO:0097150 9.43 FANCC FANCD2
11 DNA repair GO:0006281 9.43 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
12 gamete generation GO:0007276 9.4 FANCC FANCD2
13 brain morphogenesis GO:0048854 9.37 FANCC FANCD2
14 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCA FANCD2
15 regulation of CD40 signaling pathway GO:2000348 9.26 FANCA FANCD2
16 interstrand cross-link repair GO:0036297 9.02 FANCA FANCC FANCD2 FANCF FANCG

Sources for Fanconi Anemia, Complementation Group F

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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