FANCF
MCID: FNC045
MIFTS: 43

Fanconi Anemia, Complementation Group F (FANCF)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal 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 56 29 13 6 39 71
Fanconi Anemia Complementation Group F 12 73 15 17
Fancf 56 12 73

Characteristics:

HPO:

31
fanconi anemia, complementation group f:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111088
OMIM 56 603467
OMIM Phenotypic Series 56 PS227650
MeSH 43 D005199
SNOMED-CT via HPO 68 258211005
UMLS 71 C3469526

Summaries for Fanconi Anemia, Complementation Group F

OMIM : 56 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 sporadic breast cancer 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 Chks in Checkpoint Regulation. The drugs Sargramostim and Topotecan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and breast, 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 : 73 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 C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 sporadic breast cancer 31.6 FANCF FANCD2 BRCA2
2 fanconi anemia, complementation group e 31.5 FANCG FANCF FANCE FANCD2 FANCC FANCA
3 fanconi anemia, complementation group u 30.8 FANCF FANCE FANCD2 FANCA
4 fanconi anemia, complementation group b 30.8 FANCG FANCF FANCE FANCD2 FANCC FANCA
5 fanconi anemia, complementation group r 30.5 FANCG FANCF FANCE FANCD2 FANCA
6 fanconi anemia, complementation group q 30.1 FANCG FANCF FANCE FANCD2 FANCC FANCA
7 fanconi anemia, complementation group o 30.1 FANCG FANCF FANCE FANCD2 FANCC FANCA
8 fanconi anemia, complementation group t 29.9 H2AC18 FANCG FANCF FANCE FANCD2 FANCA
9 fanconi anemia, complementation group c 29.7 FANCF FANCD2 FANCC FANCA
10 squamous cell carcinoma, head and neck 29.7 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
11 fanconi anemia, complementation group p 29.5 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
12 fanconi anemia, complementation group d2 29.2 H2AC18 FANCG FANCD2 FANCA BRCA2
13 leukemia, acute myeloid 29.1 H2AC18 FANCC FANCA BRCA2
14 congenital hypoplastic anemia 29.0 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
15 fanconi anemia, complementation group n 29.0 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
16 fanconi anemia, complementation group j 29.0 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
17 aplastic anemia 28.4 H2AC18 FANCG FANCD2 FANCC FANCA BRCA2
18 deficiency anemia 28.0 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
19 fanconi anemia, complementation group a 27.7 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
20 fanconi anemia, complementation group d1 27.6 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
21 ovarian cancer 11.7
22 gnathodiaphyseal dysplasia 11.1
23 breast cancer 10.2
24 dowling-degos disease 1 10.1
25 nijmegen breakage syndrome 10.1
26 myeloma, multiple 10.1
27 cervical cancer 10.1
28 leukemia, chronic myeloid 10.1
29 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
30 microcephaly 10.1
31 leukemia 10.1
32 pancytopenia 10.1
33 thrombocytopenia 10.1
34 squamous cell carcinoma 10.1
35 myeloproliferative neoplasm 10.1
36 astrocytoma 10.1
37 luteoma 10.1
38 myeloid leukemia 10.1
39 ovarian epithelial cancer 10.1
40 obsolete: squamous cell carcinoma of head and neck 10.1
41 tracheoesophageal fistula with or without esophageal atresia 10.0 FANCC BRCA2
42 fanconi anemia, complementation group i 9.9 H2AC18 FANCD2
43 uterine corpus cancer 9.7 H2AC18 BRCA2
44 esophageal atresia/tracheoesophageal fistula 9.7 FANCC FANCA BRCA2
45 hereditary breast ovarian cancer syndrome 9.7 FANCG FANCC BRCA2
46 pre-malignant neoplasm 9.7 H2AC18 BRCA2
47 fanconi anemia, complementation group v 9.6 FANCE FANCD2 FANCA
48 serous cystadenocarcinoma 9.5 H2AC18 BRCA2
49 esophageal atresia 9.4 FANCE FANCD2 FANCC FANCA
50 seckel syndrome 8.9 H2AC18 FANCE FANCD2 FANCA BRCA2

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

Human phenotypes related to Fanconi Anemia, Complementation Group F:

31
# Description HPO Frequency HPO Source Accession
1 bone marrow hypocellularity 31 HP:0005528
2 abnormality of chromosome stability 31 HP:0003220

Clinical features from OMIM:

603467

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 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.17 BRCA2 FANCA FANCC FANCD2 FANCE FANCF

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 BRCA2 DNAJC15 FANCA FANCC FANCD2 FANCE
2 endocrine/exocrine gland MP:0005379 9.5 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
3 reproductive system MP:0005389 9.17 BRCA2 FANCA FANCC FANCD2 FANCE FANCF

Drugs & Therapeutics for Fanconi Anemia, Complementation Group F

Drugs for Fanconi Anemia, Complementation Group F (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
2
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
3
Lenograstim Approved, Investigational Phase 2 135968-09-1
4
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
5
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
6
Veliparib Investigational Phase 2 912444-00-9 11960529
7 Adjuvants, Immunologic Phase 2
8 Immunologic Factors Phase 2
9 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
10 topoisomerase I inhibitors Phase 2
11 Topoisomerase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Evaluation of ABT-888 (NCI Supplied Agent: ABT-888, NSC #737664), Topotecan (NSC # 609699) and Filgrastim or Pegfilgrastim in the Treatment of Persistent or Recurrent Squamous or Non-squamous Cell Carcinoma of the Cervix Completed NCT01266447 Phase 2 Topotecan Hydrochloride;Veliparib
2 A Phase II Clinical Trial of the PARP Inhibitor Talazoparib in BRCA1 and BRCA2 Wild Type Patients With Advanced Triple Negative Breast Cancer and Homologous Recombination Deficiency or Advanced HER2 Negative Breast Cancer or Other Solid Tumors With a Mutation in Homologous Recombination Pathway Genes Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
3 A Phase 2 Single-Arm Study of M6620 in Combination With Irinotecan in Patients With Progressive TP53 Mutant Gastric and Gastro-Esophageal Junction Cancer Not yet recruiting NCT03641313 Phase 2 ATR Kinase Inhibitor M6620;Irinotecan

Search 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:

40
Bone, Bone Marrow, Breast, Myeloid, Cervix, Skin

Publications for Fanconi Anemia, Complementation Group F

Articles related to Fanconi Anemia, Complementation Group F:

(show all 15)
# Title Authors PMID Year
1
The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. 56 6
10615118 2000
2
Fanconi anemia: at the crossroads of DNA repair. 56
21568838 2011
3
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
4
Esophageal Atresia/Tracheoesophageal Fistula Overview 6
20301753 2009
5
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
6
Fanconi Anemia 6
20301575 2002
7
Evidence for at least eight Fanconi anemia genes. 6
9382107 1997
8
Intrinsic adriamycin resistance in p53-mutated breast cancer is related to the miR-30c/FANCF/REV1-mediated DNA damage response. 61
31511498 2019
9
– (-) Menthol Induces Reversal of Promoter Hypermethylation and Associated Up-Regulation of the FANCF Gene in the SiHa Cell Line 61
28612587 2017
10
Promoter Hypermethylation of FANCF and Susceptibility and Prognosis of Epithelial Ovarian Cancer. 61
26507869 2016
11
The Fanconi anemia pathway sensitizes to DNA alkylating agents by inducing JNK-p53-dependent mitochondrial apoptosis in breast cancer cells. 61
24789349 2014
12
RNAi-mediated knockdown of FANCF suppresses cell proliferation, migration, invasion, and drug resistance potential of breast cancer cells. 61
24345874 2014
13
Silencing of fanconi anemia complementation group f exhibits potent chemosensitization of mitomycin C activity in breast cancer cells. 61
24155758 2013
14
Gene silencing of FANCF potentiates the sensitivity to mitoxantrone through activation of JNK and p38 signal pathways in breast cancer cells. 61
22952942 2012
15
Function of the Fanconi anemia pathway in Fanconi anemia complementation group F and D1 cells. 61
11750104 2001

Variations for Fanconi Anemia, Complementation Group F

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

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FANCF NM_022725.3(FANCF):c.230_252del (p.Val77fs)deletion Pathogenic 6340 rs730880277 11:22647105-22647127 11:22625559-22625581
2 FANCF NM_022725.3(FANCF):c.351_397del (p.Gly120fs)deletion Pathogenic 6341 rs730880278 11:22646960-22647006 11:22625414-22625460
3 FANCF NM_022725.3(FANCF):c.16C>T (p.Gln6Ter)SNV Pathogenic 6342 rs104894221 11:22647341-22647341 11:22625795-22625795
4 FANCF NM_022725.3(FANCF):c.484_485delCTshort repeat Pathogenic 6343 rs587778340 11:22646872-22646873 11:22625326-22625327
5 FANCF NM_022725.3(FANCF):c.327C>G (p.Tyr109Ter)SNV Pathogenic 6344 rs104894222 11:22647030-22647030 11:22625484-22625484
6 FANCF NM_022725.3(FANCF):c.690del (p.Gly231fs)deletion Likely pathogenic 208581 rs747622521 11:22646667-22646667 11:22625121-22625121
7 FANCF NM_022725.3(FANCF):c.385C>G (p.Leu129Val)SNV Uncertain significance 134348 rs61753271 11:22646972-22646972 11:22625426-22625426
8 FANCF NM_022725.3(FANCF):c.241G>T (p.Ala81Ser)SNV Uncertain significance 241437 rs145057187 11:22647116-22647116 11:22625570-22625570
9 FANCF NM_022725.3(FANCF):c.1087C>T (p.Gln363Ter)SNV Uncertain significance 418190 rs201285915 11:22646270-22646270 11:22624724-22624724
10 FANCF NM_022725.3(FANCF):c.647G>C (p.Arg216Pro)SNV Uncertain significance 435150 rs192534185 11:22646710-22646710 11:22625164-22625164
11 FANCF NM_022725.3(FANCF):c.573C>G (p.Ser191Arg)SNV Uncertain significance 456284 rs146219377 11:22646784-22646784 11:22625238-22625238
12 FANCF NM_022725.3(FANCF):c.795C>A (p.Ser265Arg)SNV Uncertain significance 565869 rs758796858 11:22646562-22646562 11:22625016-22625016

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 FANCG FANCF FANCE FANCD2 FANCC FANCA
2
Show member pathways
12.41 FANCG FANCF FANCE FANCD2 FANCC FANCA
3 12.02 FANCD2 FANCA BRCA2
4 11.67 FANCG FANCF FANCE FANCD2 FANCC FANCA
5
Show member pathways
11.09 FANCG FANCF FANCE FANCD2 FANCC FANCA
6 10.9 FANCG FANCF FANCE FANCD2 FANCC FANCA

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 9.7 FANCG FANCF FANCE FANCD2 FANCC FANCA
2 nucleus GO:0005634 9.61 RGS10 H2AC18 FANCG FANCF FANCE FANCD2
3 Fanconi anaemia nuclear complex GO:0043240 9.02 FANCG FANCF FANCE FANCC FANCA

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.7 FANCG FANCF FANCE FANCD2 FANCC FANCA
2 nucleotide-excision repair GO:0006289 9.51 FANCC BRCA2
3 DNA repair GO:0006281 9.5 FANCG FANCF FANCE FANCD2 FANCC FANCA
4 regulation of DNA-binding transcription factor activity GO:0051090 9.49 FANCD2 FANCA
5 response to gamma radiation GO:0010332 9.48 FANCD2 BRCA2
6 female gonad development GO:0008585 9.46 FANCA BRCA2
7 gamete generation GO:0007276 9.43 FANCD2 FANCC
8 neuronal stem cell population maintenance GO:0097150 9.4 FANCD2 FANCC
9 brain morphogenesis GO:0048854 9.37 FANCD2 FANCC
10 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCD2 FANCA
11 regulation of CD40 signaling pathway GO:2000348 9.26 FANCD2 FANCA
12 interstrand cross-link repair GO:0036297 9.1 FANCG FANCF FANCE FANCD2 FANCC FANCA

Sources for Fanconi Anemia, Complementation Group F

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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