FANCC
MCID: FNC044
MIFTS: 56

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 57 29 13 6 39 70
Fanconi Anemia Complementation Group C 12 72 15
Fancc 57 12 72
Facc 57 12 72
Fac 57 73 72
Fa3 57 12 72
Fanconi Pancytopenia Type 3 12 72
Faces Syndrome 73 20
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 20
Fanconi Pancytopenia, Type 3; Fa3 57
Fanconi Pancytopenia, Type 3 57
Friedman-Goodman Syndrome 20
Abnormality of the Face 6
Facc; Fac 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® : 57 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) (Updated 05-Apr-2021)

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 fanconi anemia, complementation group f. 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 Lenograstim and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, eye and kidney, 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.

GARD : 20 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 : 72 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 : 73 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 129)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group e 32.3 FANCD2 FANCC FANCA
2 fanconi anemia, complementation group f 31.8 FANCD2 FANCC FANCA
3 peliosis hepatis 31.6 FANCC FANCA
4 fanconi anemia, complementation group b 31.6 FANCL FANCD2 FANCC FANCB FANCA
5 xeroderma pigmentosum, variant type 31.5 FANCL FANCI FANCD2 FANCC FANCA
6 esophageal atresia 31.5 FANCL FANCI FANCD2 FANCC FANCB FANCA
7 fanconi anemia, complementation group j 31.3 FANCL FANCI FANCD2 FANCC FANCB FANCA
8 fanconi anemia, complementation group r 31.3 FANCL FANCI FANCD2 FANCC FANCB FANCA
9 fanconi anemia, complementation group t 31.3 FANCL FANCI FANCD2 FANCC FANCB FANCA
10 fanconi anemia, complementation group o 31.3 FANCL FANCI FANCD2 FANCC FANCB FANCA
11 fanconi anemia, complementation group q 31.3 FANCL FANCI FANCD2 FANCC FANCB FANCA
12 fanconi anemia, complementation group p 31.3 FANCL FANCI FANCD2 FANCC FANCB FANCA
13 fanconi anemia, complementation group n 31.2 FANCL FANCI FANCD2 FANCC FANCB FANCA
14 deficiency anemia 31.0 IFNA1 FANCI FANCD2 FANCC FANCB FANCA
15 fanconi anemia, complementation group a 30.8 STAT1 IRF1 FANCL FANCI FANCD2 FANCC
16 fanconi anemia, complementation group l 30.3 FANCL FANCI FANCD2
17 fanconi anemia, complementation group d1 30.3 FANCL FANCI FANCD2 FANCC FANCB FANCA
18 fanconi anemia, complementation group d2 30.3 FANCL FANCI FANCD2 FANCC FANCB FANCA
19 aplastic anemia 30.1 IFNA1 FANCL FANCI FANCD2 FANCC FANCB
20 vacterl with hydrocephalus 30.1 FANCL FANCB
21 vacterl association 30.0 FANCL FANCI FANCB
22 fanconi anemia, complementation group i 30.0 FANCL FANCI FANCD2 FANCA
23 seckel syndrome 29.8 FANCL FANCI FANCD2 FANCA
24 ovarian cancer 11.1
25 colorectal cancer 11.1
26 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 11.1
27 bloom syndrome 11.0
28 squamous cell carcinoma, head and neck 11.0
29 leukemia, acute myeloid 10.9
30 basal cell nevus syndrome 10.8
31 multiple self-healing squamous epithelioma 10.8
32 dyskeratosis congenita 10.8
33 inherited bone marrow failure syndromes 10.8
34 9q22.3 microdeletion 10.8
35 allergic disease 10.4
36 autosomal recessive disease 10.3
37 pancytopenia 10.3
38 immunodeficiency 27a 10.3 STAT1 IFNA1
39 venezuelan equine encephalitis 10.3 STAT1 IRF1 IFNA1
40 tracheoesophageal fistula with or without esophageal atresia 10.3 FANCC AOPEP
41 vacterl association, x-linked, with or without hydrocephalus 10.2 FANCL FANCB
42 microphthalmia with limb anomalies 10.2 STAT1 IRF1 IFNA1 EIF2AK2
43 mumps 10.2 STAT1 IRF1 IFNA1 EIF2AK2
44 dentinogenesis imperfecta type 2 10.2
45 macs syndrome 10.2 STAT1 IFNA1
46 pancreatic cancer 10.2
47 tumor predisposition syndrome 10.2
48 cutaneous telangiectasia and cancer syndrome, familial 10.2
49 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
50 acute leukemia 10.2

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 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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.36 ABCC9 EIF2AK2 FANCA FANCB FANCC FANCD2

Drugs & Therapeutics for Fanconi Anemia, Complementation Group C

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 1 135968-09-1
2 Immunologic Factors Phase 1
3 Adjuvants, Immunologic Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 A Study on the Homologous Recombination Deficiency Status in Chinese Population With Epithelial Ovarian Cancer Recruiting NCT04190667

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

Publications for Fanconi Anemia, Complementation Group C

Articles related to Fanconi Anemia, Complementation Group C:

(show top 50) (show all 395)
# Title Authors PMID Year
1
Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. 61 6 57
10431244 1999
2
Cloning of cDNAs for Fanconi's anaemia by functional complementation. 6 57
1574115 1992
3
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 61 6
28717661 2017
4
The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation. 61 6
26466335 2015
5
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes. 61 6
25168418 2014
6
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 6 61
24584348 2014
7
The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression. 6 61
24469828 2014
8
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. 61 6
23028338 2012
9
A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites. 6 61
22701786 2012
10
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 61 6
22778927 2012
11
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
12
Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents. 6 61
20509860 2010
13
Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 6 61
17924555 2008
14
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia. 6 61
16429406 2006
15
Intermediate DNA repair activity associated with the 322delG allele of the fanconi anemia complementation group C gene. 6 61
15364573 2004
16
Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia. 61 6
12670332 2003
17
FANCE: the link between Fanconi anaemia complex assembly and activity. 6 61
12093742 2002
18
The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality. 6 61
11520787 2001
19
Preimplantation diagnosis for Fanconi anemia combined with HLA matching. 61 6
11427142 2001
20
A heterozygous frameshift mutation in the Fanconi anemia C gene in familial T-ALL and secondary malignancy. 6 61
10994546 2000
21
The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. 61 6
10666230 2000
22
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
23
Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells. 6 61
8621788 1996
24
The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. 6 61
8081385 1994
25
Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study. 6
30630526 2019
26
Germline pathogenic variants identified in women with ovarian tumors. 6
30322717 2018
27
Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide. 6
29439820 2018
28
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. 6
29753700 2018
29
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 6
29922827 2018
30
Rare Tumor Clinic: The University of California San Diego Moores Cancer Center Experience with a Precision Therapy Approach. 6
29038235 2018
31
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes. 6
28495237 2017
32
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 6
26681312 2016
33
Patterns and functional implications of rare germline variants across 12 cancer types. 6
26689913 2015
34
Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology. 6
25801821 2015
35
Fanconi anemia signaling network regulates the spindle assembly checkpoint. 6
23934222 2013
36
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. 6
23634996 2013
37
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing. 6
22720145 2012
38
Fanconi anemia: at the crossroads of DNA repair. 57
21568838 2011
39
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. 6
20507306 2010
40
Fanconi anemia and its diagnosis. 6
19622403 2009
41
Should chromosome breakage studies be performed in patients with VACTERL association? 6
16015582 2005
42
Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. 6
11110674 2000
43
Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream. 6
9452030 1998
44
The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. 6
9398857 1997
45
The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. 6
9242535 1997
46
Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. 6
9207444 1997
47
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. 57
9272737 1997
48
Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. 6
8882868 1996
49
Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. 57
8704201 1996
50
Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations. 6
8703809 1996

Variations for Fanconi Anemia, Complementation Group C

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

6 (show top 50) (show all 335)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FANCC , AOPEP NM_000136.3(FANCC):c.1555dup (p.Thr519fs) Duplication Pathogenic 12048 rs794726667 GRCh37: 9:97864110-97864111
GRCh38: 9:95101828-95101829
2 FANCC , AOPEP NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) SNV Pathogenic 12050 rs121917785 GRCh37: 9:97869394-97869394
GRCh38: 9:95107112-95107112
3 FANCC FANCC, 250-BP DEL Deletion Pathogenic 12052 GRCh37:
GRCh38:
4 FANCC NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) SNV Pathogenic 370175 rs1057516291 GRCh37: 9:98002937-98002937
GRCh38: 9:95240655-95240655
5 FANCC NM_000136.3(FANCC):c.346-1G>A SNV Pathogenic 522633 rs1484503633 GRCh37: 9:97934430-97934430
GRCh38: 9:95172148-95172148
6 FANCC NM_000136.3(FANCC):c.519del (p.Arg173fs) Deletion Pathogenic 584740 rs1564719070 GRCh37: 9:97933363-97933363
GRCh38: 9:95171081-95171081
7 FANCC , AOPEP NM_000136.3(FANCC):c.1329+1G>T SNV Pathogenic 456155 rs1554829441 GRCh37: 9:97873744-97873744
GRCh38: 9:95111462-95111462
8 FANCC , AOPEP NM_000136.3(FANCC):c.897-1G>A SNV Pathogenic 813469 rs1588101086 GRCh37: 9:97887468-97887468
GRCh38: 9:95125186-95125186
9 FANCC NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) SNV Pathogenic 813470 rs374176091 GRCh37: 9:97912218-97912218
GRCh38: 9:95149936-95149936
10 FANCC NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs) Microsatellite Pathogenic 216037 rs730881708 GRCh37: 9:97933392-97933393
GRCh38: 9:95171110-95171111
11 FANCC NM_000136.3(FANCC):c.355_356TC[1] (p.His120fs) Microsatellite Pathogenic 813413 rs1588220764 GRCh37: 9:97934417-97934418
GRCh38: 9:95172135-95172136
12 FANCC NM_000136.3(FANCC):c.-262_-79+3686del Deletion Pathogenic 929797 GRCh37: 9:98076122-98079991
GRCh38: 9:95313840-95317709
13 FANCC NM_000136.3(FANCC):c.467del (p.Ser156fs) Deletion Pathogenic 929799 GRCh37: 9:97933415-97933415
GRCh38: 9:95171133-95171133
14 FANCC NC_000009.12:g.(95240744_95247431)_(95317709_?)del Deletion Pathogenic 929801 GRCh37: 9:98003026-98079991
GRCh38:
15 FANCC NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT Indel Pathogenic 929803 GRCh37: 9:98006631-98010418
GRCh38: 9:95244349-95248136
16 FANCC NC_000009.12:g.(95172148_95240648)_(95240744_95247431)del Deletion Pathogenic 929805 GRCh37: 9:97934430-98009713
GRCh38:
17 FANCC NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) SNV Pathogenic 823708 rs1064793405 GRCh37: 9:98002938-98002938
GRCh38: 9:95240656-95240656
18 FANCC NM_000136.3(FANCC):c.662del (p.Glu221fs) Deletion Pathogenic 929808 GRCh37: 9:97912229-97912229
GRCh38: 9:95149947-95149947
19 FANCC , AOPEP NM_000136.3(FANCC):c.996G>A (p.Gln332=) SNV Pathogenic 929811 GRCh37: 9:97887368-97887368
GRCh38: 9:95125086-95125086
20 FANCC , AOPEP NM_000136.3(FANCC):c.1155-1G>C SNV Pathogenic 929815 GRCh37: 9:97873920-97873920
GRCh38: 9:95111638-95111638
21 FANCC , AOPEP NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) SNV Pathogenic 929816 GRCh37: 9:97873866-97873866
GRCh38: 9:95111584-95111584
22 FANCC , AOPEP NM_000136.3(FANCC):c.1598_1599insAG (p.Trp533Ter) Insertion Pathogenic 929819 GRCh37: 9:97864067-97864068
GRCh38: 9:95101785-95101786
23 ABCC9 NM_020297.3(ABCC9):c.3460C>T (p.Arg1154Trp) SNV Pathogenic 31946 rs387907208 GRCh37: 12:21995261-21995261
GRCh38: 12:21842327-21842327
24 FANCC NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) SNV Pathogenic 12044 rs121917783 GRCh37: 9:97912338-97912338
GRCh38: 9:95150056-95150056
25 FANCC NM_000136.3(FANCC):c.67del (p.Asp23fs) Deletion Pathogenic 12049 rs104886459 GRCh37: 9:98011507-98011507
GRCh38: 9:95249225-95249225
26 FANCC NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) Indel Pathogenic 127540 rs587779904 GRCh37: 9:97934415-97934420
GRCh38: 9:95172133-95172138
27 FANCC NM_000136.3(FANCC):c.455dup (p.Asn152fs) Duplication Pathogenic 409657 rs774170058 GRCh37: 9:97934319-97934320
GRCh38: 9:95172037-95172038
28 FANCC , AOPEP NM_000136.3(FANCC):c.1494T>G (p.Ala498=) SNV Pathogenic 929817 GRCh37: 9:97869387-97869387
GRCh38: 9:95107105-95107105
29 FANCC , AOPEP NM_000136.3(FANCC):c.1550dup (p.Ile518fs) Duplication Pathogenic 929818 GRCh37: 9:97864115-97864116
GRCh38: 9:95101833-95101834
30 FANCC NM_000136.3(FANCC):c.456+4A>T SNV Pathogenic 12045 rs104886456 GRCh37: 9:97934315-97934315
GRCh38: 9:95172033-95172033
31 FANCC NM_000136.3(FANCC):c.165+1G>T SNV Pathogenic 12051 rs794726668 GRCh37: 9:98011408-98011408
GRCh38: 9:95249126-95249126
32 FANCC , AOPEP NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) SNV Pathogenic 12047 rs104886457 GRCh37: 9:97864024-97864024
GRCh38: 9:95101742-95101742
33 FANCC , AOPEP NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) SNV Pathogenic 584737 rs1035139114 GRCh37: 9:97869488-97869488
GRCh38: 9:95107206-95107206
34 FANCC NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) SNV Pathogenic/Likely pathogenic 188926 rs377294947 GRCh37: 9:98011509-98011509
GRCh38: 9:95249227-95249227
35 FANCC NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) SNV Pathogenic/Likely pathogenic 189022 rs781542763 GRCh37: 9:97933362-97933362
GRCh38: 9:95171080-95171080
36 FANCC NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) SNV Pathogenic/Likely pathogenic 12046 rs121917784 GRCh37: 9:98011537-98011537
GRCh38: 9:95249255-95249255
37 FANCC , AOPEP NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) SNV Pathogenic/Likely pathogenic 12047 rs104886457 GRCh37: 9:97864024-97864024
GRCh38: 9:95101742-95101742
38 FANCC , AOPEP NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) SNV Pathogenic/Likely pathogenic 12043 rs104886458 GRCh37: 9:97864005-97864005
GRCh38: 9:95101723-95101723
39 FANCC NM_000136.3(FANCC):c.356_360del (p.Ser119fs) Deletion Pathogenic/Likely pathogenic 417933 rs1060499606 GRCh37: 9:97934415-97934419
GRCh38: 9:95172133-95172137
40 FANCC NM_000136.3(FANCC):c.521+1G>A SNV Pathogenic/Likely pathogenic 237074 rs145394391 GRCh37: 9:97933360-97933360
GRCh38: 9:95171078-95171078
41 FANCC NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) Microsatellite Pathogenic/Likely pathogenic 182465 rs730881708 GRCh37: 9:97933392-97933395
GRCh38: 9:95171110-95171113
42 FANCC , AOPEP NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) SNV Likely pathogenic 370350 rs944083227 GRCh37: 9:97873765-97873765
GRCh38: 9:95111483-95111483
43 FANCC , AOPEP NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) Microsatellite Likely pathogenic 182468 rs730881710 GRCh37: 9:97869493-97869494
GRCh38: 9:95107211-95107212
44 FANCC NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) SNV Likely pathogenic 182497 rs730881731 GRCh37: 9:98002957-98002957
GRCh38: 9:95240675-95240675
45 FANCC , AOPEP NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) SNV Likely pathogenic 420449 rs776054094 GRCh37: 9:97897663-97897663
GRCh38: 9:95135381-95135381
46 FANCC , AOPEP NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) SNV Likely pathogenic 419252 rs759900071 GRCh37: 9:97879600-97879600
GRCh38: 9:95117318-95117318
47 FANCC NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) SNV Likely pathogenic 235535 rs769039987 GRCh37: 9:97912356-97912356
GRCh38: 9:95150074-95150074
48 FANCC , AOPEP NM_000136.3(FANCC):c.1302dup (p.Gly435fs) Duplication Likely pathogenic 182467 rs730881709 GRCh37: 9:97873771-97873772
GRCh38: 9:95111489-95111490
49 FANCC , AOPEP NM_000136.3(FANCC):c.843+1G>A SNV Likely pathogenic 127547 rs587779909 GRCh37: 9:97897627-97897627
GRCh38: 9:95135345-95135345
50 HDAC8 NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) SNV Likely pathogenic 523523 rs1556009247 GRCh37: X:71710823-71710823
GRCh38: X:72490973-72490973

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

72
# 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 nucleus GO:0005634 10 STAT1 RTCA RGCC RFX7 IRF1 HDAC8
2 nucleoplasm GO:0005654 9.7 STAT1 RTCA RGCC IRF1 HDAC8 FANCL
3 Fanconi anaemia nuclear complex GO:0043240 8.92 FANCL 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 9.8 FANCL FANCI FANCD2 FANCC FANCB FANCA
2 type I interferon signaling pathway GO:0060337 9.58 STAT1 IRF1 IFNA1
3 defense response to virus GO:0051607 9.55 STAT1 IRF1 IFNA1 EIF2AK2 ABCC9
4 brain morphogenesis GO:0048854 9.49 FANCD2 FANCC
5 cellular response to interferon-beta GO:0035458 9.48 STAT1 IRF1
6 neuronal stem cell population maintenance GO:0097150 9.46 FANCD2 FANCC
7 regulation of regulatory T cell differentiation GO:0045589 9.43 FANCD2 FANCA
8 gamete generation GO:0007276 9.43 FANCL FANCD2 FANCC
9 DNA repair GO:0006281 9.43 FANCL FANCI FANCD2 FANCC FANCB FANCA
10 regulation of CD40 signaling pathway GO:2000348 9.37 FANCD2 FANCA
11 interstrand cross-link repair GO:0036297 9.1 FANCL FANCI FANCD2 FANCC FANCB 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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