FANCC
MCID: FNC044
MIFTS: 58

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, skin and bone marrow, and related phenotypes are intellectual disability and hearing impairment

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 288)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group e 32.8 FANCF FANCD2 FANCC FANCA
2 esophageal atresia/tracheoesophageal fistula 32.0 FANCC FANCA
3 fanconi anemia, complementation group f 31.5 FANCF FANCD2 FANCC FANCA
4 esophageal atresia 31.4 FANCL FANCI FANCD2 FANCC FANCA
5 xeroderma pigmentosum, variant type 31.4 FANCI FANCD2 FANCC FANCA
6 fanconi anemia, complementation group b 31.2 FANCL FANCF FANCD2 FANCC FANCA
7 fanconi anemia, complementation group j 31.2 FANCL FANCI FANCF FANCD2 FANCC FANCA
8 squamous cell carcinoma, head and neck 30.9 FANCL FANCF FANCD2 FANCC FANCA
9 fanconi anemia, complementation group q 30.7 FANCL FANCI FANCF FANCD2 FANCC FANCA
10 fanconi anemia, complementation group o 30.7 FANCL FANCI FANCF FANCD2 FANCC FANCA
11 fanconi anemia, complementation group p 30.7 FANCL FANCI FANCF FANCD2 FANCC FANCA
12 fanconi anemia, complementation group n 30.7 FANCL FANCI FANCF FANCD2 FANCC FANCA
13 congenital hypoplastic anemia 30.7 FANCL FANCI FANCF FANCD2 FANCC FANCA
14 fanconi anemia, complementation group l 30.3 FANCL FANCI FANCD2
15 fanconi anemia, complementation group d2 30.3 FANCI FANCD2 FANCA
16 deficiency anemia 30.1 IFNA1 FANCF FANCD2 FANCC FANCA
17 fanconi anemia, complementation group i 30.0 FANCI FANCD2
18 aplastic anemia 29.7 IFNA1 FANCI FANCD2 FANCC FANCA
19 fanconi anemia, complementation group a 29.3 STAT1 IRF1 FANCL FANCI FANCF FANCD2
20 fanconi anemia, complementation group d1 29.2 FANCL FANCI FANCF FANCD2 FANCC FANCA
21 seckel syndrome 29.2 FANCI FANCD2 FANCA
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 frontonasal dysplasia 1 11.7
27 robinow syndrome 11.7
28 conotruncal heart malformations 11.6
29 robinow syndrome, autosomal dominant 1 11.5
30 alpha thalassemia-x-linked intellectual disability syndrome 11.5
31 three m syndrome 1 11.4
32 leukemia, acute myeloid 11.4
33 inherited cancer-predisposing syndrome 11.4
34 ror2-related robinow syndrome 11.4
35 velocardiofacial syndrome 11.4
36 mental retardation-hypotonic facies syndrome, x-linked, 1 11.4
37 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 11.4
38 fetal anticonvulsant syndrome 11.3
39 illum syndrome 11.2
40 multiple self-healing squamous epithelioma 11.1
41 tracheoesophageal fistula with or without esophageal atresia 11.1
42 hereditary breast ovarian cancer syndrome 11.1
43 diabetic macular edema 11.1
44 9q22.3 microdeletion 11.1
45 autosomal dominant robinow syndrome 11.1
46 acromegaloid hypertrichosis syndrome 11.1
47 pfeiffer syndrome 10.9
48 ritscher-schinzel syndrome 2 10.9
49 adenoid hypertrophy 10.8
50 leukemia 10.3

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 intellectual disability 31 HP:0001249
2 hearing impairment 31 HP:0000365
3 short stature 31 HP:0004322
4 cryptorchidism 31 HP:0000028
5 horseshoe kidney 31 HP:0000085
6 cafe-au-lait spot 31 HP:0000957
7 microcephaly 31 HP:0000252
8 anemia 31 HP:0001903
9 pancytopenia 31 HP:0001876
10 ectopic kidney 31 HP:0000086
11 strabismus 31 HP:0000486
12 thrombocytopenia 31 HP:0001873
13 microphthalmia 31 HP:0000568
14 hypergonadotropic hypogonadism 31 HP:0000815
15 neutropenia 31 HP:0001875
16 leukemia 31 HP:0001909
17 abnormal heart morphology 31 HP:0001627
18 bruising susceptibility 31 HP:0000978
19 short thumb 31 HP:0009778
20 complete duplication of thumb phalanx 31 HP:0009943
21 abnormality of cardiovascular system morphology 31 HP:0030680
22 hyperpigmentation of the skin 31 HP:0000953
23 renal agenesis 31 HP:0000104
24 absent radius 31 HP:0003974
25 small for gestational age 31 HP:0001518
26 absent thumb 31 HP:0009777
27 duplicated collecting system 31 HP:0000081
28 anemic pallor 31 HP:0001017
29 reticulocytopenia 31 HP:0001896
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
G U:
cryptorchidism
horseshoe kidney
hypergonadotropic hypogonadism
duplicated collecting system
renal ectopia
more
Heme:
anemia
pancytopenia
thrombocytopenia
neutropenia
leukemia
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

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

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

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group C 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 9.1 FANCA FANCC FANCD2 FANCF FANCI FANCL

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 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 8)
# 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 Topoisomerase Inhibitors Phase 2
6
Lenograstim Approved, Investigational Phase 1 135968-09-1
7 Adjuvants, Immunologic Phase 1
8 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 ATR Kinase Inhibitor M6620;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, Skin, Bone Marrow, Eye, Breast, Kidney, Heart

Publications for Fanconi Anemia, Complementation Group C

Articles related to Fanconi Anemia, Complementation Group C:

(show top 50) (show all 355)
# Title Authors PMID Year
1
Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. 61 56 6
10431244 1999
2
Cloning of cDNAs for Fanconi's anaemia by functional complementation. 56 6
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. 61 6
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. 61 6
11427142 2001
6
Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells. 61 6
8621788 1996
7
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
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
A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter. 61
32028043 2020
26
SMC5/6 acts jointly with Fanconi anemia factors to support DNA repair and genome stability. 61
31867888 2020
27
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels. 61
31937788 2020
28
Unexpected phenotype in a frameshift mutation of PTCH1. 61
31578813 2020
29
Microphthalmia transcription factor expression contributes to bone marrow failure in Fanconi anemia. 61
31877112 2019
30
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. 61
30792206 2019
31
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population. 61
31558676 2019
32
Two truncating variants in FANCC and breast cancer risk. 61
31467304 2019
33
Bone marrow niches of germline FANCC/FANCG deficient mice enable efficient and durable engraftment of hematopoietic stem cells after transplantation. 61
30679321 2019
34
p53-TP53-Induced Glycolysis Regulator Mediated Glycolytic Suppression Attenuates DNA Damage and Genomic Instability in Fanconi Anemia Hematopoietic Stem Cells. 61
30977208 2019
35
FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México. 61
31044565 2019
36
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
37
Induction of HRR genes and inhibition of DNMT1 is associated with anthracycline anti-tumor antibiotic-tolerant breast carcinoma cells. 61
30178275 2019
38
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
39
The non-homologous end-joining activity is required for Fanconi anemia fetal HSC maintenance. 61
30925933 2019
40
Molecular Predictors of Complete Response Following Neoadjuvant Chemotherapy in Urothelial Carcinoma of the Bladder and Upper Tracts. 61
30781730 2019
41
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients. 61
30967997 2019
42
Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer. 61
31409076 2019
43
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
44
Deletion of the Fanconi Anemia C Gene in Mice Leads to Skeletal Anomalies and Defective Bone Mineralization and Microarchitecture. 61
29989666 2018
45
Functional analysis of Fanconi anemia mutations in China. 61
30031030 2018
46
FANCC localizes with UNC5A at neurite outgrowth and promotes neuritogenesis. 61
30213274 2018
47
Modelling cost-effectiveness of a biomarker-based approach to neoadjuvant chemotherapy for muscle-invasive bladder cancer. 61
29603871 2018
48
Fanconi anemia complementation group C protection against oxidative stress‑induced β‑cell apoptosis. 61
29901137 2018
49
Fanconi Anemia complementation group C protein in metabolic disorders. 61
29930218 2018
50
Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48. 61
29891926 2018

Variations for Fanconi Anemia, Complementation Group C

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

6 (show top 50) (show all 119) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FANCC NM_000136.3(FANCC):c.1302dup (p.Gly435fs)duplication Pathogenic 182467 rs730881709 9:97873771-97873772 9:95111489-95111490
2 FANCC NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs)short repeat Pathogenic 216037 rs730881708 9:97933392-97933393 9:95171110-95171111
3 FANCC NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)SNV Pathogenic 219717 rs766105286 9:97873784-97873784 9:95111502-95111502
4 FANCC NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)SNV Pathogenic 12043 rs104886458 9:97864005-97864005 9:95101723-95101723
5 FANCC NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)SNV Pathogenic 12044 rs121917783 9:97912338-97912338 9:95150056-95150056
6 FANCC NM_000136.3(FANCC):c.456+4A>TSNV Pathogenic 12045 rs104886456 9:97934315-97934315 9:95172033-95172033
7 FANCC NM_000136.3(FANCC):c.1555dup (p.Thr519fs)duplication Pathogenic 12048 rs794726667 9:97864110-97864111 9:95101828-95101829
8 FANCC NM_000136.3(FANCC):c.67del (p.Asp23fs)deletion Pathogenic 12049 rs104886459 9:98011507-98011507 9:95249225-95249225
9 FANCC NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg)SNV Pathogenic 12050 rs121917785 9:97869394-97869394 9:95107112-95107112
10 FANCC NM_000136.3(FANCC):c.165+1G>TSNV Pathogenic 12051 rs794726668 9:98011408-98011408 9:95249126-95249126
11 FANCC FANCC, 250-BP DELdeletion Pathogenic 12052
12 FANCC NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)SNV Pathogenic 370175 rs1057516291 9:98002937-98002937 9:95240655-95240655
13 FANCC NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)SNV Pathogenic 419252 rs759900071 9:97879600-97879600 9:95117318-95117318
14 FANCC NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)SNV Pathogenic 584737 rs1035139114 9:97869488-97869488 9:95107206-95107206
15 FANCC NM_000136.3(FANCC):c.519del (p.Arg173fs)deletion Pathogenic 584740 rs1564719070 9:97933363-97933363 9:95171081-95171081
16 FANCC NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs)short repeat Pathogenic/Likely pathogenic 182468 rs730881710 9:97869493-97869494 9:95107211-95107212
17 FANCC NM_000136.3(FANCC):c.455dup (p.Asn152fs)duplication Pathogenic/Likely pathogenic 409657 rs774170058 9:97934319-97934320 9:95172037-95172038
18 FANCC NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)SNV Pathogenic/Likely pathogenic 370186 rs1057516298 9:97869548-97869548 9:95107266-95107266
19 FANCC NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)indel Pathogenic/Likely pathogenic 127540 rs587779904 9:97934415-97934420 9:95172133-95172138
20 FANCC NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)SNV Pathogenic/Likely pathogenic 235535 rs769039987 9:97912356-97912356 9:95150074-95150074
21 FANCC NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)SNV Pathogenic/Likely pathogenic 12046 rs121917784 9:98011537-98011537 9:95249255-95249255
22 FANCC NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)SNV Pathogenic/Likely pathogenic 12047 rs104886457 9:97864024-97864024 9:95101742-95101742
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.485_486GA[1] (p.Glu163fs)short repeat Pathogenic/Likely pathogenic 182465 rs730881708 9:97933392-97933395 9:95171110-95171113
25 FANCC NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)SNV Pathogenic/Likely pathogenic 182497 rs730881731 9:98002957-98002957 9:95240675-95240675
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.843+1G>ASNV Likely pathogenic 127547 rs587779909 9:97897627-97897627 9:95135345-95135345
30 FANCC NM_000136.3(FANCC):c.996+1G>TSNV Likely pathogenic 265137 rs370510954 9:97887367-97887367 9:95125085-95125085
31 FANCC NM_000136.3(FANCC):c.1144del (p.Gln382fs)deletion Likely pathogenic 370205 rs1057516313 9:97876921-97876921 9:95114639-95114639
32 FANCC NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)SNV Likely pathogenic 370412 rs867319477 9:97864038-97864038 9:95101756-95101756
33 FANCC NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter)SNV Likely pathogenic 370395 rs1057516455 9:97864067-97864067 9:95101785-95101785
34 FANCC NM_000136.3(FANCC):c.1533+2T>CSNV Likely pathogenic 371310 rs1057517170 9:97869346-97869346 9:95107064-95107064
35 FANCC NM_000136.3(FANCC):c.1533+1G>CSNV Likely pathogenic 370968 rs753885687 9:97869347-97869347 9:95107065-95107065
36 FANCC NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)SNV Likely pathogenic 370437 rs1057516488 9:97869364-97869364 9:95107082-95107082
37 FANCC NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter)SNV Likely pathogenic 371047 rs1057516963 9:97869383-97869383 9:95107101-95107101
38 FANCC NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)SNV Likely pathogenic 370350 rs944083227 9:97873765-97873765 9:95111483-95111483
39 FANCC NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)deletion Likely pathogenic 370987 rs1057516919 9:97876961-97876962 9:95114679-95114680
40 FANCC NM_000136.3(FANCC):c.1037dup (p.Ser347fs)duplication Likely pathogenic 370120 rs1057516248 9:97879631-97879632 9:95117349-95117350
41 FANCC NM_000136.3(FANCC):c.831del (p.Asp278fs)deletion Likely pathogenic 370818 rs1057516792 9:97897640-97897640 9:95135358-95135358
42 FANCC NM_000136.3(FANCC):c.686+1G>TSNV Likely pathogenic 371252 rs1057517125 9:97912204-97912204 9:95149922-95149922
43 FANCC NM_000136.3(FANCC):c.640dup (p.Ile214fs)duplication Likely pathogenic 371351 rs1057517203 9:97912250-97912251 9:95149968-95149969
44 FANCC NM_000136.3(FANCC):c.457-1G>TSNV Likely pathogenic 370985 rs1057516917 9:97933426-97933426 9:95171144-95171144
45 FANCC NM_000136.3(FANCC):c.345+1deldeletion Likely pathogenic 370119 rs1057516247 9:98002930-98002930 9:95240648-95240648
46 FANCC NM_000136.3(FANCC):c.521+1G>ASNV Likely pathogenic 237074 rs145394391 9:97933360-97933360 9:95171078-95171078
47 FANCC NM_000136.3(FANCC):c.307C>T (p.Gln103Ter)SNV Likely pathogenic 370299 rs1057516384 9:98002969-98002969 9:95240687-95240687
48 FANCC NM_000136.3(FANCC):c.251-2A>CSNV Likely pathogenic 371370 rs1057517219 9:98003027-98003027 9:95240745-95240745
49 FANCC NM_000136.3(FANCC):c.117del (p.Gln40fs)deletion Likely pathogenic 371279 rs1057517147 9:98011457-98011457 9:95249175-95249175
50 FANCC NM_000136.3(FANCC):c.108_109dup (p.His37fs)duplication Likely pathogenic 371258 rs1057517131 9:98011464-98011465 9:95249182-95249183

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 ITPRID2 IRF1 FANCL FANCI
2 nucleus GO:0005634 9.83 STAT1 RRAGC RFX7 ITPRID2 IRF1 HSF5
3 Fanconi anaemia nuclear complex GO:0043240 8.92 FANCL FANCF FANCC 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 9.73 FANCL FANCI FANCF FANCD2 FANCC FANCA
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 neuronal stem cell population maintenance GO:0097150 9.49 FANCD2 FANCC
5 cellular response to interferon-beta GO:0035458 9.48 STAT1 IRF1
6 brain morphogenesis GO:0048854 9.46 FANCD2 FANCC
7 regulation of regulatory T cell differentiation GO:0045589 9.43 FANCD2 FANCA
8 DNA repair GO:0006281 9.43 FANCL FANCI FANCF FANCD2 FANCC FANCA
9 gamete generation GO:0007276 9.33 FANCL FANCD2 FANCC
10 regulation of CD40 signaling pathway GO:2000348 9.32 FANCD2 FANCA
11 interstrand cross-link repair GO:0036297 9.1 FANCL FANCI FANCF FANCD2 FANCC FANCA

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
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