FANCF
MCID: FNC045
MIFTS: 41

Fanconi Anemia, Complementation Group F (FANCF)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin 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
Fanconi Anemia Complementation Group F 12 75 15
Fancf 57 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 128818009 278453007
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 fanconi anemia complementation group f, is related to gnathodiaphyseal dysplasia and fanconi anemia, complementation group e. 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 TNFR1 Pathway. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are bone marrow hypocellularity and abnormality of chromosome stability

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

Diseases in the Fanconi Anemia, Complementation Group E family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group F
Fanconi Anemia, Complementation Group D1

Diseases related to Fanconi Anemia, Complementation Group F via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 gnathodiaphyseal dysplasia 32.0 FANCF GAS2
2 fanconi anemia, complementation group e 31.7 FANCA FANCC FANCD2 FANCF FANCG
3 fanconi anemia, complementation group b 31.5 FANCA FANCC FANCD2 FANCF FANCG
4 fanconi anemia, complementation group d1 31.3 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
5 congenital hypoplastic anemia 31.3 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
6 ovarian cancer 29.5 ABCG2 BRCA2 CASP8 PARP1 XIAP
7 fanconi anemia, complementation group a 29.5 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
8 squamous cell carcinoma, head and neck 11.2
9 tracheoesophageal fistula with or without esophageal atresia 10.1 BRCA2 FANCC
10 isolated tracheoesophageal fistula 10.1 BRCA2 FANCC
11 breast cancer 10.1
12 fanconi anemia, complementation group v 10.1 FANCA FANCD2
13 fanconi anemia, complementation group j 10.1 FANCA FANCC FANCD2
14 myasthenic syndrome, congenital, 13 10.1 DIABLO XIAP
15 fanconi anemia, complementation group d2 10.0 BRCA2 FANCA FANCD2
16 fanconi anemia, complementation group q 10.0 BRCA2 FANCA FANCD2
17 nijmegen breakage syndrome 10.0
18 cervical cancer 10.0
19 squamous cell carcinoma 10.0
20 tracheoesophageal fistula 10.0 BRCA2 FANCA FANCC
21 fanconi anemia, complementation group t 9.9 FANCA FANCD2
22 deficiency anemia 9.9 FANCA FANCC FANCD2 FANCG
23 cowpox 9.8 CASP8 XIAP
24 adamantinoma of long bones 9.7 BRCA2 CASP8 PARP1
25 breast adenocarcinoma 9.7 ABCG2 CASP8 PARP1
26 colon adenocarcinoma 9.6 CASP8 MAPK8 PARP1
27 myeloma, multiple 9.6 CASP8 PARP1 XIAP
28 neuroblastoma 9.5 CASP8 FANCA MAPK8 PARP1
29 large intestine cancer 9.3 ABCG2 CASP8 MAPK8 PARP1 XIAP
30 leukemia, acute myeloid 9.3 ABCG2 CASP8 MAPK8 PARP1 XIAP

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 bone marrow hypocellularity 32 HP:0005528
2 abnormality of chromosome stability 32 HP:0003220

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 9.93 FANCC FANCF GAS2
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.93 FANCC FANCF GAS2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.83 BRCA2 CASP8 DIABLO FANCA FANCD2 GAS2
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.83 BRCA2 CASP8 DIABLO FANCA FANCD2 GAS2
5 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.61 BRCA2 CASP8 FANCA FANCC FANCD2 FANCF
6 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.43 FANCC FANCF GAS2

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 ABCG2 BRCA2 CASP8 DIABLO FANCA FANCC
2 endocrine/exocrine gland MP:0005379 10.13 BRCA2 CASP8 FANCA FANCC FANCD2 FANCF
3 growth/size/body region MP:0005378 10.06 BRCA2 CASP8 DIABLO FANCA FANCD2 FANCF
4 hematopoietic system MP:0005397 10.02 ABCG2 BRCA2 CASP8 FANCA FANCC FANCD2
5 homeostasis/metabolism MP:0005376 9.97 ABCG2 BRCA2 CASP8 FANCA FANCD2 FANCF
6 immune system MP:0005387 9.86 ABCG2 BRCA2 CASP8 FANCC FANCD2 MAPK8
7 integument MP:0010771 9.63 ABCG2 BRCA2 CASP8 MAPK8 PARP1 XIAP
8 neoplasm MP:0002006 9.43 BRCA2 CASP8 FANCA FANCD2 FANCF MAPK8
9 reproductive system MP:0005389 9.32 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, Bone Marrow, Skin, Colon, Myeloid, 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

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

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
2
Show member pathways
12.75 CASP8 DIABLO GAS2 MAPK8 PARP1 XIAP
3 12.64 BRCA2 CASP8 MAPK8 XIAP
4
Show member pathways
12.61 CASP8 DIABLO GAS2 MAPK8 PARP1 XIAP
5
Show member pathways
12.5 CASP8 DIABLO MAPK8 PARP1 XIAP
6
Show member pathways
12.32 CASP8 DIABLO MAPK8 PARP1
7
Show member pathways
12.1 CASP8 MAPK8 XIAP
8 12.1 CASP8 DIABLO PARP1 XIAP
9
Show member pathways
12.06 CASP8 MAPK8 XIAP
10
Show member pathways
12.06 CASP8 MAPK8 PARP1 XIAP
11
Show member pathways
12.06 CASP8 DIABLO GAS2 MAPK8 PARP1 XIAP
12
Show member pathways
11.97 BRCA2 CASP8 DIABLO FANCA FANCC FANCD2
13
Show member pathways
11.89 FANCC GAS2 MAPK8 XIAP
14
Show member pathways
11.86 CASP8 MAPK8 PARP1
15
Show member pathways
11.85 CASP8 DIABLO MAPK8 XIAP
16 11.71 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
17
Show member pathways
11.63 CASP8 DIABLO MAPK8 XIAP
18 11.38 BRCA2 FANCD2 MAPK8
19
Show member pathways
11.35 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
20
Show member pathways
11.28 CASP8 DIABLO MAPK8
21 11.26 CASP8 DIABLO XIAP
22 11.16 CASP8 MAPK8 PARP1
23
Show member pathways
11.05 DIABLO XIAP
24 11.02 FANCA FANCC FANCD2 FANCF FANCG
25 10.97 ABCG2 MAPK8

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 cytosol GO:0005829 9.97 BRCA2 CASP8 DIABLO FANCC FANCD2 FANCG
2 nucleus GO:0005634 9.9 ABCG2 BRCA2 CASP8 FANCA FANCC FANCD2
3 mitochondrion GO:0005739 9.73 ABCG2 CASP8 DIABLO FANCG MAPK8 PARP1
4 nucleoplasm GO:0005654 9.65 BRCA2 CASP8 FANCA FANCC FANCD2 FANCF
5 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 18)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.83 CASP8 DIABLO GAS2 PARP1 XIAP
2 DNA repair GO:0006281 9.7 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
3 positive regulation of neuron death GO:1901216 9.58 CASP8 PARP1
4 cellular response to oxidative stress GO:0034599 9.58 FANCC FANCD2 PARP1
5 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.57 CASP8 DIABLO
6 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.56 CASP8 MAPK8
7 regulation of DNA-binding transcription factor activity GO:0051090 9.55 FANCA FANCD2
8 female gonad development GO:0008585 9.54 BRCA2 FANCA
9 regulation of inflammatory response GO:0050727 9.54 FANCA FANCD2 XIAP
10 neuronal stem cell population maintenance GO:0097150 9.52 FANCC FANCD2
11 brain morphogenesis GO:0048854 9.51 FANCC FANCD2
12 gamete generation GO:0007276 9.49 FANCC FANCD2
13 macrophage differentiation GO:0030225 9.48 CASP8 PARP1
14 regulation of regulatory T cell differentiation GO:0045589 9.46 FANCA FANCD2
15 response to gamma radiation GO:0010332 9.43 BRCA2 FANCD2 PARP1
16 interstrand cross-link repair GO:0036297 9.35 FANCA FANCC FANCD2 FANCF FANCG
17 regulation of CD40 signaling pathway GO:2000348 9.32 FANCA FANCD2
18 cellular response to DNA damage stimulus GO:0006974 9.23 BRCA2 FANCA FANCC FANCD2 FANCF FANCG

Molecular functions related to Fanconi Anemia, Complementation Group F according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.4 ABCG2 BRCA2 CASP8 DIABLO FANCA FANCC
2 identical protein binding GO:0042802 9.35 ABCG2 BRCA2 CASP8 PARP1 XIAP

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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