MCID: FNC044
MIFTS: 45

Fanconi Anemia, Complementation Group C

Categories: Genetic diseases, Blood 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 13 6 40 73
Fancc 57 12 75
Facc 57 12 75
Fac 57 76 75
Fa3 57 12 75
Fanconi Anemia Complementation Group C 12 75
Fanconi Pancytopenia Type 3 12 75
Fanconi Pancytopenia, Type 3; Fa3 57
Fanconi Pancytopenia, Type 3 57
Facc; Fac 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive with at least two loci and multiple alleles


HPO:

32
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)

MalaCards based summary : Fanconi Anemia, Complementation Group C, also known as fancc, is related to fanconi anemia, complementation group a and pancreatic cancer. An important gene associated with Fanconi Anemia, Complementation Group C is FANCC (FA Complementation Group C), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PI3K-Akt signaling pathway. The drugs Lenograstim and beta-Hydroxy-beta-methylbutyrate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are intellectual disability and hearing impairment

UniProtKB/Swiss-Prot : 75 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.

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

Related Diseases for Fanconi Anemia, Complementation Group C

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group B

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group a 29.5 FANCC IRF1 STAT1
2 pancreatic cancer 10.0
3 pancreatitis 10.0
4 venezuelan equine encephalitis 9.7 IRF1 STAT1
5 microphthalmia with limb anomalies 9.3 IFNA1 STAT1
6 severe acute respiratory syndrome 9.2 IFNA1 STAT1
7 stomatitis 9.2 EIF2AK2 IFNA1
8 mouth disease 8.9 IFNA1 STAT1
9 measles 8.8 EIF2AK2 IFNA1 STAT1
10 hepatitis c 8.8 EIF2AK2 IFNA1 STAT1
11 viral infectious disease 8.2 EIF2AK2 IFNA1 IRF1 STAT1

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

Symptoms via clinical synopsis from OMIM:

57
HEENT:
microcephaly
strabismus
microphthalmia
deafness
ear anomaly

GU:
cryptorchidism
horseshoe kidney
hypergonadotropic hypogonadism
duplicated collecting system
renal ectopia
more
Neuro:
mental retardation

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

Lab:
multiple chromosomal breaks
chromosomal breakage induced by diepoxybutane (deb), and mitomycin c
deficient excision of uv-induced pyrimidine dimers in dna
prolonged g2 phase of cell cycle

Heme:
anemia
pancytopenia
thrombocytopenia
neutropenia
leukemia
more
Cardiac:
congenital heart defect

Skin:
hyperpigmentation
cafe-au-lait spots
anemic pallor
bruisability
pigmentary changes

Growth:
low birth weight
small stature


Clinical features from OMIM:

227645

Human phenotypes related to Fanconi Anemia, Complementation Group C:

32 (show all 32)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 hearing impairment 32 HP:0000365
3 microcephaly 32 HP:0000252
4 short stature 32 HP:0004322
5 anemia 32 HP:0001903
6 pancytopenia 32 HP:0001876
7 ectopic kidney 32 HP:0000086
8 strabismus 32 HP:0000486
9 cryptorchidism 32 HP:0000028
10 horseshoe kidney 32 HP:0000085
11 thrombocytopenia 32 HP:0001873
12 microphthalmia 32 HP:0000568
13 hypergonadotropic hypogonadism 32 HP:0000815
14 neutropenia 32 HP:0001875
15 bruising susceptibility 32 HP:0000978
16 abnormality of skin pigmentation 32 HP:0001000
17 complete duplication of thumb phalanx 32 HP:0009943
18 abnormality of cardiovascular system morphology 32 HP:0030680
19 renal agenesis 32 HP:0000104
20 cafe-au-lait spot 32 HP:0000957
21 absent radius 32 HP:0003974
22 small for gestational age 32 HP:0001518
23 duplicated collecting system 32 HP:0000081
24 abnormal heart morphology 32 HP:0001627
25 short thumb 32 HP:0009778
26 leukemia 32 HP:0001909
27 absent thumb 32 HP:0009777
28 reticulocytopenia 32 HP:0001896
29 anemic pallor 32 HP:0001017
30 deficient excision of uv-induced pyrimidine dimers in dna 32 HP:0003213
31 prolonged g2 phase of cell cycle 32 HP:0003214
32 chromosomal breakage induced by crosslinking agents 32 HP:0003221

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 beta-Hydroxy-beta-methylbutyrate Nutraceutical Not Applicable

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 Gene Therapy for the Treatment of Fanconi's Anemia Type C Completed NCT00001399 Phase 1 Transduced CD34+ Cells
3 The Effects of β-Hydroxy-β-methylbutyrate Free Acid and High-Intensity Interval Training Completed NCT01941368 Not Applicable
4 Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma Active, not recruiting NCT00900055
5 Spine FA3 - a Prospective, International, Multicenter Cohort Study on Treatment of of AO A3 Thoracolumbar Fractures Terminated NCT01751633

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:

41
Bone, Bone Marrow, Kidney, Heart, Skin

Publications for Fanconi Anemia, Complementation Group C

Articles related to Fanconi Anemia, Complementation Group C:

# Title Authors Year
1
Germ line Fanconi anemia complementation group C mutations and pancreatic cancer. ( 15695377 )
2005
2
Role of double-stranded RNA-dependent protein kinase in mediating hypersensitivity of Fanconi anemia complementation group C cells to interferon gamma, tumor necrosis factor-alpha, and double-stranded RNA. ( 11238103 )
2001
3
The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality. ( 11520787 )
2001
4
The Fanconi anemia complementation group C protein corrects DNA interstrand cross-link-specific apoptosis in HSC536N cells. ( 8822951 )
1996
5
Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. ( 8639804 )
1996
6
Identification of cytosolic proteins that bind to the Fanconi anemia complementation group C polypeptide in vitro. Evidence for a multimeric complex. ( 7730370 )
1995

Variations for Fanconi Anemia, Complementation Group C

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

75
# 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

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

6
(show top 50) (show all 87)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCC NM_000136.2(FANCC): c.1661T> C (p.Leu554Pro) single nucleotide variant Pathogenic rs104886458 GRCh37 Chromosome 9, 97864005: 97864005
2 FANCC NM_000136.2(FANCC): c.1661T> C (p.Leu554Pro) single nucleotide variant Pathogenic rs104886458 GRCh38 Chromosome 9, 95101723: 95101723
3 FANCC NM_000136.2(FANCC): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs121917783 GRCh37 Chromosome 9, 97912338: 97912338
4 FANCC NM_000136.2(FANCC): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs121917783 GRCh38 Chromosome 9, 95150056: 95150056
5 FANCC NM_000136.2(FANCC): c.456+4A> T single nucleotide variant Pathogenic rs104886456 GRCh37 Chromosome 9, 97934315: 97934315
6 FANCC NM_000136.2(FANCC): c.456+4A> T single nucleotide variant Pathogenic rs104886456 GRCh38 Chromosome 9, 95172033: 95172033
7 FANCC NM_000136.2(FANCC): c.37C> T (p.Gln13Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917784 GRCh37 Chromosome 9, 98011537: 98011537
8 FANCC NM_000136.2(FANCC): c.37C> T (p.Gln13Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917784 GRCh38 Chromosome 9, 95249255: 95249255
9 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh37 Chromosome 9, 97864024: 97864024
10 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh38 Chromosome 9, 95101742: 95101742
11 FANCC NM_000136.2(FANCC): c.1555dupA (p.Thr519Asnfs) duplication Pathogenic rs794726667 GRCh37 Chromosome 9, 97864111: 97864111
12 FANCC NM_000136.2(FANCC): c.1555dupA (p.Thr519Asnfs) duplication Pathogenic rs794726667 GRCh38 Chromosome 9, 95101829: 95101829
13 FANCC NM_000136.2(FANCC): c.67delG (p.Asp23Ilefs) deletion Pathogenic rs104886459 GRCh37 Chromosome 9, 98011507: 98011507
14 FANCC NM_000136.2(FANCC): c.67delG (p.Asp23Ilefs) deletion Pathogenic rs104886459 GRCh38 Chromosome 9, 95249225: 95249225
15 FANCC NM_000136.2(FANCC): c.1487T> G (p.Leu496Arg) single nucleotide variant Pathogenic rs121917785 GRCh37 Chromosome 9, 97869394: 97869394
16 FANCC NM_000136.2(FANCC): c.1487T> G (p.Leu496Arg) single nucleotide variant Pathogenic rs121917785 GRCh38 Chromosome 9, 95107112: 95107112
17 FANCC NM_000136.2(FANCC): c.165+1G> T single nucleotide variant Pathogenic rs794726668 GRCh37 Chromosome 9, 98011408: 98011408
18 FANCC NM_000136.2(FANCC): c.165+1G> T single nucleotide variant Pathogenic rs794726668 GRCh38 Chromosome 9, 95249126: 95249126
19 FANCC FANCC, 250-BP DEL deletion Pathogenic
20 FANCC NM_000136.2(FANCC): c.355_360delTCTCATinsA (p.Ser119Asnfs) indel Pathogenic/Likely pathogenic rs587779904 GRCh37 Chromosome 9, 97934415: 97934420
21 FANCC NM_000136.2(FANCC): c.355_360delTCTCATinsA (p.Ser119Asnfs) indel Pathogenic/Likely pathogenic rs587779904 GRCh38 Chromosome 9, 95172133: 95172138
22 FANCC NM_000136.2(FANCC): c.843+1G> A single nucleotide variant Likely pathogenic rs587779909 GRCh37 Chromosome 9, 97897627: 97897627
23 FANCC NM_000136.2(FANCC): c.843+1G> A single nucleotide variant Likely pathogenic rs587779909 GRCh38 Chromosome 9, 95135345: 95135345
24 FANCC NM_000136.2(FANCC): c.487_490delGAGA (p.Glu163Ilefs) deletion Pathogenic/Likely pathogenic rs730881708 GRCh38 Chromosome 9, 95171110: 95171113
25 FANCC NM_000136.2(FANCC): c.487_490delGAGA (p.Glu163Ilefs) deletion Pathogenic/Likely pathogenic rs730881708 GRCh37 Chromosome 9, 97933392: 97933395
26 FANCC NM_000136.2(FANCC): c.844-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs774209201 GRCh37 Chromosome 9, 97888864: 97888864
27 FANCC NM_000136.2(FANCC): c.844-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs774209201 GRCh38 Chromosome 9, 95126582: 95126582
28 FANCC NM_000136.2(FANCC): c.520C> T (p.Arg174Ter) single nucleotide variant Likely pathogenic rs781542763 GRCh37 Chromosome 9, 97933362: 97933362
29 FANCC NM_000136.2(FANCC): c.520C> T (p.Arg174Ter) single nucleotide variant Likely pathogenic rs781542763 GRCh38 Chromosome 9, 95171080: 95171080
30 FANCC NM_000136.2(FANCC): c.65G> A (p.Trp22Ter) single nucleotide variant Pathogenic/Likely pathogenic rs377294947 GRCh37 Chromosome 9, 98011509: 98011509
31 FANCC NM_000136.2(FANCC): c.65G> A (p.Trp22Ter) single nucleotide variant Pathogenic/Likely pathogenic rs377294947 GRCh38 Chromosome 9, 95249227: 95249227
32 FANCC NM_000136.2(FANCC): c.1162G> T (p.Gly388Ter) single nucleotide variant Pathogenic/Likely pathogenic rs371897078 GRCh37 Chromosome 9, 97873912: 97873912
33 FANCC NM_000136.2(FANCC): c.1162G> T (p.Gly388Ter) single nucleotide variant Pathogenic/Likely pathogenic rs371897078 GRCh38 Chromosome 9, 95111630: 95111630
34 FANCC NM_000136.2(FANCC): c.1290C> A (p.Tyr430Ter) single nucleotide variant Pathogenic/Likely pathogenic rs766105286 GRCh37 Chromosome 9, 97873784: 97873784
35 FANCC NM_000136.2(FANCC): c.1290C> A (p.Tyr430Ter) single nucleotide variant Pathogenic/Likely pathogenic rs766105286 GRCh38 Chromosome 9, 95111502: 95111502
36 FANCC NM_000136.2(FANCC): c.1663C> T (p.Arg555Ter) single nucleotide variant Likely pathogenic rs370974124 GRCh37 Chromosome 9, 97864003: 97864003
37 FANCC NM_000136.2(FANCC): c.1663C> T (p.Arg555Ter) single nucleotide variant Likely pathogenic rs370974124 GRCh38 Chromosome 9, 95101721: 95101721
38 FANCC NM_000136.2(FANCC): c.996+1G> T single nucleotide variant Likely pathogenic rs370510954 GRCh37 Chromosome 9, 97887367: 97887367
39 FANCC NM_000136.2(FANCC): c.996+1G> T single nucleotide variant Likely pathogenic rs370510954 GRCh38 Chromosome 9, 95125085: 95125085
40 FANCC NM_000136.2(FANCC): c.1628C> A (p.Ser543Ter) single nucleotide variant Likely pathogenic rs867319477 GRCh37 Chromosome 9, 97864038: 97864038
41 FANCC NM_000136.2(FANCC): c.1628C> A (p.Ser543Ter) single nucleotide variant Likely pathogenic rs867319477 GRCh38 Chromosome 9, 95101756: 95101756
42 FANCC NM_000136.2(FANCC): c.1599G> A (p.Trp533Ter) single nucleotide variant Likely pathogenic rs1057516455 GRCh37 Chromosome 9, 97864067: 97864067
43 FANCC NM_000136.2(FANCC): c.1599G> A (p.Trp533Ter) single nucleotide variant Likely pathogenic rs1057516455 GRCh38 Chromosome 9, 95101785: 95101785
44 FANCC NM_000136.2(FANCC): c.1533+2T> C single nucleotide variant Likely pathogenic rs1057517170 GRCh37 Chromosome 9, 97869346: 97869346
45 FANCC NM_000136.2(FANCC): c.1533+2T> C single nucleotide variant Likely pathogenic rs1057517170 GRCh38 Chromosome 9, 95107064: 95107064
46 FANCC NM_000136.2(FANCC): c.1533+1G> C single nucleotide variant Likely pathogenic rs753885687 GRCh37 Chromosome 9, 97869347: 97869347
47 FANCC NM_000136.2(FANCC): c.1533+1G> C single nucleotide variant Likely pathogenic rs753885687 GRCh38 Chromosome 9, 95107065: 95107065
48 FANCC NM_000136.2(FANCC): c.1517G> A (p.Trp506Ter) single nucleotide variant Likely pathogenic rs1057516488 GRCh37 Chromosome 9, 97869364: 97869364
49 FANCC NM_000136.2(FANCC): c.1517G> A (p.Trp506Ter) single nucleotide variant Likely pathogenic rs1057516488 GRCh38 Chromosome 9, 95107082: 95107082
50 FANCC NM_000136.2(FANCC): c.1498G> T (p.Gly500Ter) single nucleotide variant Likely pathogenic rs1057516963 GRCh37 Chromosome 9, 97869383: 97869383

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

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 EIF2AK2 IFNA1 IRF1 STAT1
2
Show member pathways
12.5 EIF2AK2 IFNA1 IRF1 STAT1
3
Show member pathways
12.42 EIF2AK2 IFNA1 STAT1
4
Show member pathways
12.2 IFNA1 IRF1 STAT1
5
Show member pathways
12.19 EIF2AK2 IFNA1 STAT1
6 12.17 IFNA1 IRF1 STAT1
7
Show member pathways
11.95 EIF2AK2 IFNA1 IRF1 STAT1
8
Show member pathways
11.74 EIF2AK2 IFNA1 STAT1
9
Show member pathways
11.57 EIF2AK2 FANCC IRF1 STAT1
10
Show member pathways
11.48 IRF1 STAT1
11
Show member pathways
11.46 FANCC STAT1
12 11.44 IRF1 STAT1
13
Show member pathways
11.08 EIF2AK2 STAT1
14 11.04 EIF2AK2 IFNA1 IRF1 STAT1
15
Show member pathways
10.77 EIF2AK2 STAT1
16 10.7 EIF2AK2 IRF1 STAT1

GO Terms for Fanconi Anemia, Complementation Group C

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.54 EIF2AK2 IFNA1 IRF1
2 interferon-gamma-mediated signaling pathway GO:0060333 9.32 IRF1 STAT1
3 regulation of type I interferon-mediated signaling pathway GO:0060338 9.26 IFNA1 STAT1
4 cellular response to interferon-beta GO:0035458 9.16 IRF1 STAT1
5 type I interferon signaling pathway GO:0060337 9.13 IFNA1 IRF1 STAT1
6 defense response to virus GO:0051607 8.92 EIF2AK2 IFNA1 IRF1 STAT1

Sources for Fanconi Anemia, Complementation Group C

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....