FANCC
MCID: FNC044
MIFTS: 57

Fanconi Anemia, Complementation Group C (FANCC)

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 C

MalaCards integrated aliases for Fanconi Anemia, Complementation Group C:

Name: Fanconi Anemia, Complementation Group C 56 29 13 6 39 71
Fanconi Anemia Complementation Group C 12 73 15
Fancc 56 12 73
Facc 56 12 73
Fac 56 74 73
Fa3 56 12 73
Fanconi Pancytopenia Type 3 12 73
Faces Syndrome 74 52
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 52
Fanconi Pancytopenia, Type 3; Fa3 56
Fanconi Pancytopenia, Type 3 56
Friedman-Goodman Syndrome 52
Abnormality of the Face 6
Facc; Fac 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive with at least two loci and multiple alleles


HPO:

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


Classifications:



Summaries for Fanconi Anemia, Complementation Group C

OMIM : 56 Fanconi anemia 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. (227645)

MalaCards based summary : Fanconi Anemia, Complementation Group C, also known as fanconi anemia complementation group c, is related to fanconi anemia, complementation group e and esophageal atresia/tracheoesophageal fistula. An important gene associated with Fanconi Anemia, Complementation Group C is FANCC (FA Complementation Group C), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Interferon gamma signaling. The drugs Talazoparib and Irinotecan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are hearing impairment and intellectual disability

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22.

NIH Rare Diseases : 52 FACES syndrome , also known as Friedman-Goodman syndrome, is a condition that is characterized by unique F acial features, A norexia , C achexia (body wasting) and E ye and S kin lesions. The pattern of inheritance and underlying genetic cause of FACES syndrome has not yet been established. FACES syndrome has only been reported in three members of the same family.

UniProtKB/Swiss-Prot : 73 Fanconi anemia complementation group C: 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.

Wikipedia : 74 FACES syndrome is a syndrome of unique facial features, anorexia, cachexia, eye and skin... more...

Related Diseases for Fanconi Anemia, Complementation Group C

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 C via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 284)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group e 31.8 FANCF FANCD2 FANCC FANCA
2 esophageal atresia/tracheoesophageal fistula 31.8 FANCC FANCB FANCA
3 fanconi anemia, complementation group f 31.3 FANCF FANCD2 FANCC FANCA
4 xeroderma pigmentosum, variant type 31.2 FANCL FANCI FANCD2 FANCC FANCA
5 fanconi anemia, complementation group v 30.9 FANCL FANCI FANCD2 FANCC FANCB FANCA
6 squamous cell carcinoma, head and neck 30.7 FANCL FANCF FANCD2 FANCC FANCA
7 fanconi anemia, complementation group b 30.7 FANCL FANCF FANCD2 FANCC FANCB FANCA
8 fanconi anemia, complementation group j 30.7 FANCL FANCI FANCF FANCD2 FANCC FANCB
9 esophageal atresia 30.4 FANCL FANCI FANCF FANCD2 FANCC FANCB
10 fanconi anemia, complementation group l 30.3 FANCL FANCD2
11 fanconi anemia, complementation group r 30.2 FANCL FANCI FANCF FANCD2 FANCC FANCB
12 fanconi anemia, complementation group t 30.2 FANCL FANCI FANCF FANCD2 FANCC FANCB
13 fanconi anemia, complementation group q 30.2 FANCL FANCI FANCF FANCD2 FANCC FANCB
14 fanconi anemia, complementation group o 30.2 FANCL FANCI FANCF FANCD2 FANCC FANCB
15 fanconi anemia, complementation group p 30.2 FANCL FANCI FANCF FANCD2 FANCC FANCB
16 fanconi anemia, complementation group n 30.2 FANCL FANCI FANCF FANCD2 FANCC FANCB
17 fanconi anemia, complementation group d2 29.9 FANCI FANCD2 FANCB FANCA
18 vacterl association 29.8 FANCL FANCI FANCB
19 fanconi anemia, complementation group i 29.4 FANCI FANCF FANCD2 FANCA
20 fanconi anemia, complementation group a 28.9 STAT1 IRF1 FANCL FANCI FANCF FANCD2
21 fanconi anemia, complementation group d1 28.8 FANCL FANCI FANCF FANCD2 FANCC FANCB
22 whistling face syndrome, recessive form 12.5
23 autosomal recessive whistling face syndrome 12.1
24 arthrogryposis, distal, type 2a 12.0
25 digeorge syndrome 12.0
26 inherited cancer-predisposing syndrome 11.7
27 ovarian cancer 11.7
28 frontonasal dysplasia 1 11.7
29 robinow syndrome 11.7
30 conotruncal heart malformations 11.6
31 robinow syndrome, autosomal dominant 1 11.5
32 alpha thalassemia-x-linked intellectual disability syndrome 11.5
33 three m syndrome 1 11.5
34 leukemia, acute myeloid 11.4
35 ror2-related robinow syndrome 11.4
36 velocardiofacial syndrome 11.4
37 mental retardation-hypotonic facies syndrome, x-linked, 1 11.4
38 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 11.4
39 fetal anticonvulsant syndrome 11.3
40 illum syndrome 11.2
41 autosomal dominant robinow syndrome 11.1
42 acromegaloid hypertrichosis syndrome 11.1
43 basal cell nevus syndrome 11.1
44 multiple self-healing squamous epithelioma 11.1
45 tracheoesophageal fistula with or without esophageal atresia 11.1
46 macular retinal edema 11.1
47 diabetic macular edema 11.1
48 9q22.3 microdeletion 11.1
49 pfeiffer syndrome 10.9
50 ritscher-schinzel syndrome 2 10.9

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



Diseases related to Fanconi Anemia, Complementation Group C

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group C

Human phenotypes related to Fanconi Anemia, Complementation Group C:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 intellectual disability 31 HP:0001249
3 microcephaly 31 HP:0000252
4 short stature 31 HP:0004322
5 anemia 31 HP:0001903
6 strabismus 31 HP:0000486
7 cryptorchidism 31 HP:0000028
8 horseshoe kidney 31 HP:0000085
9 ectopic kidney 31 HP:0000086
10 thrombocytopenia 31 HP:0001873
11 microphthalmia 31 HP:0000568
12 leukemia 31 HP:0001909
13 short thumb 31 HP:0009778
14 neutropenia 31 HP:0001875
15 bruising susceptibility 31 HP:0000978
16 complete duplication of thumb phalanx 31 HP:0009943
17 hypergonadotropic hypogonadism 31 HP:0000815
18 abnormality of cardiovascular system morphology 31 HP:0030680
19 abnormal heart morphology 31 HP:0001627
20 cafe-au-lait spot 31 HP:0000957
21 absent radius 31 HP:0003974
22 renal agenesis 31 HP:0000104
23 small for gestational age 31 HP:0001518
24 pancytopenia 31 HP:0001876
25 absent thumb 31 HP:0009777
26 duplicated collecting system 31 HP:0000081
27 hyperpigmentation of the skin 31 HP:0000953
28 reticulocytopenia 31 HP:0001896
29 anemic pallor 31 HP:0001017
30 deficient excision of uv-induced pyrimidine dimers in dna 31 HP:0003213
31 prolonged g2 phase of cell cycle 31 HP:0003214
32 chromosomal breakage induced by crosslinking agents 31 HP:0003221

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
microcephaly
strabismus
microphthalmia
deafness
ear anomaly

G U:
cryptorchidism
horseshoe kidney
hypergonadotropic hypogonadism
duplicated collecting system
renal ectopia
more
Lab:
deficient excision of uv-induced pyrimidine dimers in dna
prolonged g2 phase of cell cycle
multiple chromosomal breaks
chromosomal breakage induced by diepoxybutane (deb), and mitomycin c

Neuro:
mental retardation

Growth:
low birth weight
small stature

Heme:
anemia
thrombocytopenia
leukemia
neutropenia
pancytopenia
more
Skin:
anemic pallor
hyperpigmentation
cafe-au-lait spots
bruisability
pigmentary changes

Cardiac:
congenital heart defect

Skel:
radial aplasia
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb

Clinical features from OMIM:

227645

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.61 FANCA FANCB FANCC FANCD2 FANCF FANCL
2 neoplasm MP:0002006 9.1 EIF2AK2 FANCA FANCD2 FANCF IRF1 STAT1

Drugs & Therapeutics for Fanconi Anemia, Complementation Group C

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
2
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
3 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
4 topoisomerase I inhibitors Phase 2
5
Lenograstim Approved, Investigational Phase 1 135968-09-1
6 Adjuvants, Immunologic Phase 1
7 Immunologic Factors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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 Berzosertib;Irinotecan
3 Phase I Pilot Study of CD34 Enriched, Fanconi's Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi's Anemia Unknown status NCT00005896 Phase 1 filgrastim
4 Retroviral Mediated Gene Transfer of the Fanconi Anemia Complementation Group C Gene to Hematopoietic Progenitors of Group C Patients Completed NCT00001399 Phase 1 Transduced CD34+ Cells
5 A Study on the Homologous Recombination Deficiency Status in Chinese Population With Epithelial Ovarian Cancer Recruiting NCT04190667
6 A Prospective Cohort Study on the Etiology of Neonatal Hyperbilirubinemia in a Migrant and Refugee Population on the Thai-Myanmar Border Active, not recruiting NCT02361788
7 Exome Sequencing of Fanconi Anemia Children and the Their Parents Available NCT01995305

Search NIH Clinical Center for Fanconi Anemia, Complementation Group C

Genetic Tests for Fanconi Anemia, Complementation Group C

Genetic tests related to Fanconi Anemia, Complementation Group C:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group C 29 FANCC

Anatomical Context for Fanconi Anemia, Complementation Group C

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

40
Bone, Bone Marrow, Skin, Eye, Kidney, Breast, Heart

Publications for Fanconi Anemia, Complementation Group C

Articles related to Fanconi Anemia, Complementation Group C:

(show top 50) (show all 362)
# Title Authors PMID Year
1
Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. 61 6 56
10431244 1999
2
Cloning of cDNAs for Fanconi's anaemia by functional complementation. 6 56
1574115 1992
3
Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs. 6 61
20869034 2010
4
The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality. 61 6
11520787 2001
5
Preimplantation diagnosis for Fanconi anemia combined with HLA matching. 6 61
11427142 2001
6
Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. 61 6
8639804 1996
7
Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells. 6 61
8621788 1996
8
The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. 61 6
8081385 1994
9
Fanconi anemia: at the crossroads of DNA repair. 56
21568838 2011
10
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
11
Esophageal Atresia / Tracheoesophageal Fistula Overview 6
20301753 2009
12
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
13
Fanconi Anemia 6
20301575 2002
14
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. 56
9272737 1997
15
Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. 56
8704201 1996
16
Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. 56
8630504 1996
17
Developmental expression of the Fac gene correlates with congenital defects in Fanconi anemia patients. 56
8789444 1996
18
Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC. 6
8829660 1996
19
Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. 6
7492758 1995
20
Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells. 56
7518843 1994
21
Nomenclature of human DNA repair genes. 56
7517009 1994
22
FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. 6
8103176 1993
23
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. 6
8348157 1993
24
A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. 6
8499901 1993
25
Whole genome sequence analysis reveals genetic structure and X-chromosome haplotype structure in indigenous Chinese pigs. 61
32523001 2020
26
A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter. 61
32028043 2020
27
[Molecular predictors for the course of disease and individualized therapy in pancreatic cancer]. 61
32405728 2020
28
Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women. 61
32427313 2020
29
Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection. 61
32444418 2020
30
A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants. 61
32113160 2020
31
Defects in DNA Repair Genes Confer Improved Long-term Survival after Cisplatin-based Neoadjuvant Chemotherapy for Muscle-invasive Bladder Cancer. 61
32165095 2020
32
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
33
Microphthalmia transcription factor expression contributes to bone marrow failure in Fanconi anemia. 61
31877112 2020
34
SMC5/6 acts jointly with Fanconi anemia factors to support DNA repair and genome stability. 61
31867888 2020
35
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels. 61
31937788 2020
36
Unexpected phenotype in a frameshift mutation of PTCH1. 61
31578813 2020
37
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. 61
30792206 2019
38
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population. 61
31558676 2019
39
Two truncating variants in FANCC and breast cancer risk. 61
31467304 2019
40
Bone marrow niches of germline FANCC/FANCG deficient mice enable efficient and durable engraftment of hematopoietic stem cells after transplantation. 61
30679321 2019
41
p53-TP53-Induced Glycolysis Regulator Mediated Glycolytic Suppression Attenuates DNA Damage and Genomic Instability in Fanconi Anemia Hematopoietic Stem Cells. 61
30977208 2019
42
FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México. 61
31044565 2019
43
Induction of HRR genes and inhibition of DNMT1 is associated with anthracycline anti-tumor antibiotic-tolerant breast carcinoma cells. 61
30178275 2019
44
Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center. 61
30480775 2019
45
Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations. 61
29767408 2019
46
The non-homologous end-joining activity is required for Fanconi anemia fetal HSC maintenance. 61
30925933 2019
47
Molecular Predictors of Complete Response Following Neoadjuvant Chemotherapy in Urothelial Carcinoma of the Bladder and Upper Tracts. 61
30781730 2019
48
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients. 61
30967997 2019
49
Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer. 61
31409076 2019
50
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. 61
30540754 2018

Variations for Fanconi Anemia, Complementation Group C

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

6 (show top 50) (show all 227) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FANCC NM_000136.3(FANCC):c.356_360del (p.Ser119fs)deletion Pathogenic 417933 rs1060499606 9:97934415-97934419 9:95172133-95172137
2 FANCC NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)SNV Pathogenic 419252 rs759900071 9:97879600-97879600 9:95117318-95117318
3 FANCC NM_000136.3(FANCC):c.519del (p.Arg173fs)deletion Pathogenic 584740 rs1564719070 9:97933363-97933363 9:95171081-95171081
4 FANCC NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)SNV Pathogenic 584737 rs1035139114 9:97869488-97869488 9:95107206-95107206
5 FANCC NM_000136.3(FANCC):c.897-1G>ASNV Pathogenic 813469 9:97887468-97887468 9:95125186-95125186
6 FANCC NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)SNV Pathogenic 813470 9:97912218-97912218 9:95149936-95149936
7 FANCC NM_000136.3(FANCC):c.355_356TC[1] (p.His120fs)short repeat Pathogenic 813413 9:97934417-97934418 9:95172135-95172136
8 FANCC NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)SNV Pathogenic 12044 rs121917783 9:97912338-97912338 9:95150056-95150056
9 FANCC NM_000136.3(FANCC):c.456+4A>TSNV Pathogenic 12045 rs104886456 9:97934315-97934315 9:95172033-95172033
10 FANCC NM_000136.3(FANCC):c.1555dup (p.Thr519fs)duplication Pathogenic 12048 rs794726667 9:97864110-97864111 9:95101828-95101829
11 FANCC NM_000136.3(FANCC):c.67del (p.Asp23fs)deletion Pathogenic 12049 rs104886459 9:98011507-98011507 9:95249225-95249225
12 FANCC NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg)SNV Pathogenic 12050 rs121917785 9:97869394-97869394 9:95107112-95107112
13 FANCC NM_000136.3(FANCC):c.165+1G>TSNV Pathogenic 12051 rs794726668 9:98011408-98011408 9:95249126-95249126
14 FANCC FANCC, 250-BP DELdeletion Pathogenic 12052
15 FANCC NM_000136.3(FANCC):c.1302dup (p.Gly435fs)duplication Pathogenic 182467 rs730881709 9:97873771-97873772 9:95111489-95111490
16 FANCC NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs)short repeat Pathogenic 216037 rs730881708 9:97933392-97933393 9:95171110-95171111
17 FANCC NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)SNV Pathogenic 219717 rs766105286 9:97873784-97873784 9:95111502-95111502
18 FANCC NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)SNV Pathogenic 370175 rs1057516291 9:98002937-98002937 9:95240655-95240655
19 FANCC NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)SNV Pathogenic/Likely pathogenic 370412 rs867319477 9:97864038-97864038 9:95101756-95101756
20 FANCC NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)SNV Pathogenic/Likely pathogenic 370186 rs1057516298 9:97869548-97869548 9:95107266-95107266
21 FANCC NM_000136.3(FANCC):c.521+1G>ASNV Pathogenic/Likely pathogenic 237074 rs145394391 9:97933360-97933360 9:95171078-95171078
22 FANCC NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs)short repeat Pathogenic/Likely pathogenic 182468 rs730881710 9:97869493-97869494 9:95107211-95107212
23 FANCC NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)SNV Pathogenic/Likely pathogenic 218427 rs371897078 9:97873912-97873912 9:95111630-95111630
24 FANCC NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)SNV Pathogenic/Likely pathogenic 235535 rs769039987 9:97912356-97912356 9:95150074-95150074
25 FANCC NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs)short repeat Pathogenic/Likely pathogenic 182465 rs730881708 9:97933392-97933395 9:95171110-95171113
26 FANCC NM_000136.3(FANCC):c.844-1G>CSNV Pathogenic/Likely pathogenic 189053 rs774209201 9:97888864-97888864 9:95126582-95126582
27 FANCC NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)SNV Pathogenic/Likely pathogenic 189022 rs781542763 9:97933362-97933362 9:95171080-95171080
28 FANCC NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)SNV Pathogenic/Likely pathogenic 188926 rs377294947 9:98011509-98011509 9:95249227-95249227
29 FANCC NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)SNV Pathogenic/Likely pathogenic 182497 rs730881731 9:98002957-98002957 9:95240675-95240675
30 FANCC NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)SNV Pathogenic/Likely pathogenic 12046 rs121917784 9:98011537-98011537 9:95249255-95249255
31 FANCC NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)SNV Pathogenic/Likely pathogenic 12047 rs104886457 9:97864024-97864024 9:95101742-95101742
32 FANCC NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)indel Pathogenic/Likely pathogenic 127540 rs587779904 9:97934415-97934420 9:95172133-95172138
33 FANCC NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)SNV Pathogenic/Likely pathogenic 12043 rs104886458 9:97864005-97864005 9:95101723-95101723
34 FANCC NM_000136.3(FANCC):c.455dup (p.Asn152fs)duplication Pathogenic/Likely pathogenic 409657 rs774170058 9:97934319-97934320 9:95172037-95172038
35 FANCC NM_000136.3(FANCC):c.1329+1G>TSNV Pathogenic/Likely pathogenic 456155 rs1554829441 9:97873744-97873744 9:95111462-95111462
36 FANCC NM_000136.3(FANCC):c.346-1G>ASNV Pathogenic/Likely pathogenic 522633 rs1484503633 9:97934430-97934430 9:95172148-95172148
37 HDAC8 NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)SNV Likely pathogenic 523523 rs1556009247 X:71710823-71710823 X:72490973-72490973
38 FANCC NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)SNV Likely pathogenic 551836 rs1410356625 9:97869464-97869464 9:95107182-95107182
39 FANCC NM_000136.3(FANCC):c.1534-1G>TSNV Likely pathogenic 556701 rs1364238660 9:97864133-97864133 9:95101851-95101851
40 FANCC NM_000136.3(FANCC):c.1534-2A>GSNV Likely pathogenic 552953 rs1554827166 9:97864134-97864134 9:95101852-95101852
41 FANCC NM_000136.3(FANCC):c.1175_1176AG[3] (p.Ser393fs)short repeat Likely pathogenic 557322 rs1554829561 9:97873895-97873896 9:95111613-95111614
42 FANCC NM_000136.3(FANCC):c.1151_1152del (p.His384fs)deletion Likely pathogenic 555232 rs1554830220 9:97876913-97876914 9:95114631-95114632
43 FANCC NM_000136.3(FANCC):c.1072+1G>ASNV Likely pathogenic 558360 rs1554830789 9:97879596-97879596 9:95117314-95117314
44 FANCC NM_000136.3(FANCC):c.996+1G>ASNV Likely pathogenic 555274 rs370510954 9:97887367-97887367 9:95125085-95125085
45 FANCC NM_000136.3(FANCC):c.843+1G>CSNV Likely pathogenic 557263 rs587779909 9:97897627-97897627 9:95135345-95135345
46 FANCC NM_000136.3(FANCC):c.-79+1G>ASNV Likely pathogenic 553617 rs1228886763 9:98079807-98079807 9:95317525-95317525
47 FANCC NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs)duplication Likely pathogenic 552605 rs1554827136 9:97864075-97864076 9:95101793-95101794
48 FANCC NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter)SNV Likely pathogenic 556133 rs200719554 9:97873833-97873833 9:95111551-95111551
49 FANCC NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter)SNV Likely pathogenic 554474 rs1554829555 9:97873892-97873892 9:95111610-95111610
50 FANCC NM_000136.3(FANCC):c.1155-1G>ASNV Likely pathogenic 551788 rs1554829575 9:97873920-97873920 9:95111638-95111638

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group C:

73
# Symbol AA change Variation ID SNP ID
1 FANCC p.Asp195Val VAR_005228 rs1800365
2 FANCC p.Leu496Arg VAR_005232 rs121917785
3 FANCC p.Leu554Pro VAR_005233 rs104886458

Expression for Fanconi Anemia, Complementation Group C

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

Pathways for Fanconi Anemia, Complementation Group C

GO Terms for Fanconi Anemia, Complementation Group C

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.9 STAT1 RRAGC IRF1 FANCL FANCI FANCF
2 nucleus GO:0005634 9.83 STAT1 RRAGC RFX7 IRF1 HSF5 FANCL
3 Fanconi anaemia nuclear complex GO:0043240 9.02 FANCL FANCF FANCC FANCB FANCA

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.7 FANCL FANCI FANCF FANCD2 FANCC FANCB
2 defense response to virus GO:0051607 9.67 STAT1 IRF1 IFNA1 EIF2AK2
3 type I interferon signaling pathway GO:0060337 9.58 STAT1 IRF1 IFNA1
4 DNA repair GO:0006281 9.5 FANCL FANCI FANCF FANCD2 FANCC FANCB
5 neuronal stem cell population maintenance GO:0097150 9.49 FANCD2 FANCC
6 brain morphogenesis GO:0048854 9.48 FANCD2 FANCC
7 cellular response to interferon-beta GO:0035458 9.46 STAT1 IRF1
8 regulation of regulatory T cell differentiation GO:0045589 9.43 FANCD2 FANCA
9 gamete generation GO:0007276 9.43 FANCL FANCD2 FANCC
10 regulation of CD40 signaling pathway GO:2000348 9.32 FANCD2 FANCA
11 interstrand cross-link repair GO:0036297 9.17 FANCL FANCI FANCF FANCD2 FANCC FANCB

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

# Name GO ID Score Top Affiliating Genes
1 DNA polymerase binding GO:0070182 8.62 FANCI FANCD2

Sources for Fanconi Anemia, Complementation Group C

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
Content
Loading form....