FANCO
MCID: FNC048
MIFTS: 35

Fanconi Anemia, Complementation Group O (FANCO)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group O

MalaCards integrated aliases for Fanconi Anemia, Complementation Group O:

Name: Fanconi Anemia, Complementation Group O 57 29 6 40 73
Fanconi Anemia Complementation Group O 12 75 15
Fanco 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fanconi anemia, complementation group o:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group O

OMIM : 57 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (613390)

MalaCards based summary : Fanconi Anemia, Complementation Group O, also known as fanconi anemia complementation group o, is related to breast-ovarian cancer, familial 3 and fanconi anemia, complementation group u. An important gene associated with Fanconi Anemia, Complementation Group O is RAD51C (RAD51 Paralog C), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Fanconi anemia pathway. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are short stature and cryptorchidism

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous mutation in the RAD51C gene on chromosome 17q21-q24.

UniProtKB/Swiss-Prot : 75 Fanconi anemia complementation group O: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Related Diseases for Fanconi Anemia, Complementation Group O

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



Diseases related to Fanconi Anemia, Complementation Group O

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group O

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Genitourinary Kidneys:
hydronephrosis
chronic renal failure
cystic kidneys

Cardiovascular Heart:
congenital heart defect

Skeletal Hands:
thumb hypoplasia
thumb aplasia
long, slim fingers

Genitourinary External Genitalia Male:
cryptorchidism
small genitalia

Abdomen Gastrointestinal:
rectal atresia
imperforate anus
duodenal web

Skeletal Limbs:
radial hypoplasia
radial anomalies

Laboratory Abnormalities:
increased chromosomal breaks in response to cross-linking agents and ionizing radiation
defect in dna repair
cellular arrest at g2 of the cell cycle


Clinical features from OMIM:

613390

Human phenotypes related to Fanconi Anemia, Complementation Group O:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 cryptorchidism 32 HP:0000028
3 anal atresia 32 HP:0002023
4 hydronephrosis 32 HP:0000126
5 hypoplasia of the radius 32 HP:0002984
6 renal cyst 32 HP:0000107
7 stage 5 chronic kidney disease 32 HP:0003774
8 abnormal heart morphology 32 HP:0001627
9 short thumb 32 HP:0009778
10 external genital hypoplasia 32 HP:0003241
11 rectal atresia 32 HP:0025023
12 absent thumb 32 HP:0009777

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group O 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 8.92 FANCD2 FANCI FANCM RAD51C

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.26 FANCD2 FANCM RAD51C TEX14
2 reproductive system MP:0005389 8.92 FANCD2 FANCM RAD51C TEX14

Drugs & Therapeutics for Fanconi Anemia, Complementation Group O

Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group O

Genetic Tests for Fanconi Anemia, Complementation Group O

Genetic tests related to Fanconi Anemia, Complementation Group O:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group O 29 RAD51C

Anatomical Context for Fanconi Anemia, Complementation Group O

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

41
Bone, Bone Marrow, Kidney, Heart, Skin, Pancreas

Publications for Fanconi Anemia, Complementation Group O

Variations for Fanconi Anemia, Complementation Group O

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

75
# Symbol AA change Variation ID SNP ID
1 RAD51C p.Arg258His VAR_064032 rs267606997

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

6 (show top 50) (show all 852)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAD51C NM_058216.2(RAD51C): c.773G> A (p.Arg258His) single nucleotide variant Likely pathogenic rs267606997 GRCh37 Chromosome 17, 56787287: 56787287
2 RAD51C NM_058216.2(RAD51C): c.773G> A (p.Arg258His) single nucleotide variant Likely pathogenic rs267606997 GRCh38 Chromosome 17, 58709926: 58709926
3 RAD51C NM_058216.2(RAD51C): c.414G> C (p.Leu138Phe) single nucleotide variant Likely pathogenic rs267606999 GRCh37 Chromosome 17, 56774063: 56774063
4 RAD51C NM_058216.2(RAD51C): c.414G> C (p.Leu138Phe) single nucleotide variant Likely pathogenic rs267606999 GRCh38 Chromosome 17, 58696702: 58696702
5 RAD51C NM_058216.2(RAD51C): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs387907159 GRCh37 Chromosome 17, 56772543: 56772543
6 RAD51C NM_058216.2(RAD51C): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs387907159 GRCh38 Chromosome 17, 58695182: 58695182
7 RAD51C NM_058216.2(RAD51C): c.1026+5_1026+7delGTA deletion Pathogenic/Likely pathogenic rs587781410 GRCh37 Chromosome 17, 56809910: 56809912
8 RAD51C NM_058216.2(RAD51C): c.1026+5_1026+7delGTA deletion Pathogenic/Likely pathogenic rs587781410 GRCh38 Chromosome 17, 58732549: 58732551
9 RAD51C NM_058216.2(RAD51C): c.1102C> T (p.Arg368Trp) single nucleotide variant Uncertain significance rs587780253 GRCh37 Chromosome 17, 56811554: 56811554
10 RAD51C NM_058216.2(RAD51C): c.1102C> T (p.Arg368Trp) single nucleotide variant Uncertain significance rs587780253 GRCh38 Chromosome 17, 58734193: 58734193
11 RAD51C NM_058216.2(RAD51C): c.14C> T (p.Thr5Met) single nucleotide variant Uncertain significance rs201523760 GRCh37 Chromosome 17, 56770018: 56770018
12 RAD51C NM_058216.2(RAD51C): c.14C> T (p.Thr5Met) single nucleotide variant Uncertain significance rs201523760 GRCh38 Chromosome 17, 58692657: 58692657
13 RAD51C NM_058216.2(RAD51C): c.406A> T (p.Met136Leu) single nucleotide variant Uncertain significance rs587780254 GRCh37 Chromosome 17, 56774055: 56774055
14 RAD51C NM_058216.2(RAD51C): c.406A> T (p.Met136Leu) single nucleotide variant Uncertain significance rs587780254 GRCh38 Chromosome 17, 58696694: 58696694
15 RAD51C NM_058216.2(RAD51C): c.428A> G (p.Gln143Arg) single nucleotide variant Uncertain significance rs587780255 GRCh37 Chromosome 17, 56774077: 56774077
16 RAD51C NM_058216.2(RAD51C): c.428A> G (p.Gln143Arg) single nucleotide variant Uncertain significance rs587780255 GRCh38 Chromosome 17, 58696716: 58696716
17 RAD51C NM_058216.2(RAD51C): c.506T> C (p.Val169Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587780256 GRCh37 Chromosome 17, 56774155: 56774155
18 RAD51C NM_058216.2(RAD51C): c.506T> C (p.Val169Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587780256 GRCh38 Chromosome 17, 58696794: 58696794
19 RAD51C NM_058216.2(RAD51C): c.571+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs587780257 GRCh37 Chromosome 17, 56774224: 56774224
20 RAD51C NM_058216.2(RAD51C): c.571+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs587780257 GRCh38 Chromosome 17, 58696863: 58696863
21 RAD51C NM_058216.2(RAD51C): c.706-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587780259 GRCh37 Chromosome 17, 56787218: 56787218
22 RAD51C NM_058216.2(RAD51C): c.706-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587780259 GRCh38 Chromosome 17, 58709857: 58709857
23 RAD51C NM_058216.2(RAD51C): c.784T> G (p.Leu262Val) single nucleotide variant Uncertain significance rs149331537 GRCh37 Chromosome 17, 56787298: 56787298
24 RAD51C NM_058216.2(RAD51C): c.784T> G (p.Leu262Val) single nucleotide variant Uncertain significance rs149331537 GRCh38 Chromosome 17, 58709937: 58709937
25 RAD51C NM_058216.2(RAD51C): c.790G> A (p.Gly264Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147241704 GRCh37 Chromosome 17, 56787304: 56787304
26 RAD51C NM_058216.2(RAD51C): c.790G> A (p.Gly264Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147241704 GRCh38 Chromosome 17, 58709943: 58709943
27 RAD51C NM_058216.2(RAD51C): c.837+4_837+7delAGTA deletion Conflicting interpretations of pathogenicity rs727503760 GRCh37 Chromosome 17, 56787355: 56787358
28 RAD51C NM_058216.2(RAD51C): c.837+4_837+7delAGTA deletion Conflicting interpretations of pathogenicity rs727503760 GRCh38 Chromosome 17, 58709994: 58709997
29 RAD51C NM_058216.2(RAD51C): c.859A> G (p.Thr287Ala) single nucleotide variant Benign/Likely benign rs28363317 GRCh37 Chromosome 17, 56798128: 56798128
30 RAD51C NM_058216.2(RAD51C): c.859A> G (p.Thr287Ala) single nucleotide variant Benign/Likely benign rs28363317 GRCh38 Chromosome 17, 58720767: 58720767
31 RAD51C NM_058216.2(RAD51C): c.376G> A (p.Ala126Thr) single nucleotide variant Benign/Likely benign rs61758784 GRCh37 Chromosome 17, 56772522: 56772522
32 RAD51C NM_058216.2(RAD51C): c.376G> A (p.Ala126Thr) single nucleotide variant Benign/Likely benign rs61758784 GRCh38 Chromosome 17, 58695161: 58695161
33 RAD51C NM_058216.2(RAD51C): c.1027-2A> G single nucleotide variant Likely pathogenic rs587780835 GRCh37 Chromosome 17, 56811477: 56811477
34 RAD51C NM_058216.2(RAD51C): c.1027-2A> G single nucleotide variant Likely pathogenic rs587780835 GRCh38 Chromosome 17, 58734116: 58734116
35 RAD51C NM_058216.2(RAD51C): c.146-8A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201079501 GRCh37 Chromosome 17, 56772284: 56772284
36 RAD51C NM_058216.2(RAD51C): c.146-8A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201079501 GRCh38 Chromosome 17, 58694923: 58694923
37 RAD51C NM_058216.2(RAD51C): c.195A> G (p.Arg65=) single nucleotide variant Benign/Likely benign rs45511291 GRCh37 Chromosome 17, 56772341: 56772341
38 RAD51C NM_058216.2(RAD51C): c.195A> G (p.Arg65=) single nucleotide variant Benign/Likely benign rs45511291 GRCh38 Chromosome 17, 58694980: 58694980
39 RAD51C NM_058216.2(RAD51C): c.408G> A (p.Met136Ile) single nucleotide variant Uncertain significance rs587780836 GRCh37 Chromosome 17, 56774057: 56774057
40 RAD51C NM_058216.2(RAD51C): c.408G> A (p.Met136Ile) single nucleotide variant Uncertain significance rs587780836 GRCh38 Chromosome 17, 58696696: 58696696
41 RAD51C NM_058216.2(RAD51C): c.421G> A (p.Asp141Asn) single nucleotide variant Uncertain significance rs587780837 GRCh37 Chromosome 17, 56774070: 56774070
42 RAD51C NM_058216.2(RAD51C): c.421G> A (p.Asp141Asn) single nucleotide variant Uncertain significance rs587780837 GRCh38 Chromosome 17, 58696709: 58696709
43 RAD51C NM_058216.2(RAD51C): c.523G> A (p.Ala175Thr) single nucleotide variant Uncertain significance rs587780838 GRCh37 Chromosome 17, 56774172: 56774172
44 RAD51C NM_058216.2(RAD51C): c.523G> A (p.Ala175Thr) single nucleotide variant Uncertain significance rs587780838 GRCh38 Chromosome 17, 58696811: 58696811
45 RAD51C NM_058216.2(RAD51C): c.602T> C (p.Leu201Pro) single nucleotide variant Uncertain significance rs587780839 GRCh37 Chromosome 17, 56780587: 56780587
46 RAD51C NM_058216.2(RAD51C): c.602T> C (p.Leu201Pro) single nucleotide variant Uncertain significance rs587780839 GRCh38 Chromosome 17, 58703226: 58703226
47 RAD51C NM_058216.2(RAD51C): c.721G> A (p.Val241Met) single nucleotide variant Uncertain significance rs184033132 GRCh37 Chromosome 17, 56787235: 56787235
48 RAD51C NM_058216.2(RAD51C): c.721G> A (p.Val241Met) single nucleotide variant Uncertain significance rs184033132 GRCh38 Chromosome 17, 58709874: 58709874
49 RAD51C NM_058216.2(RAD51C): c.97_98delCA (p.Gln33Aspfs) deletion Pathogenic rs587780840 GRCh37 Chromosome 17, 56770101: 56770102
50 RAD51C NM_058216.2(RAD51C): c.97_98delCA (p.Gln33Aspfs) deletion Pathogenic rs587780840 GRCh38 Chromosome 17, 58692740: 58692741

Expression for Fanconi Anemia, Complementation Group O

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

Pathways for Fanconi Anemia, Complementation Group O

GO Terms for Fanconi Anemia, Complementation Group O

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.46 FANCD2 FANCI FANCM RAD51C
2 cell cycle GO:0007049 9.43 FANCD2 FANCI TEX14
3 DNA repair GO:0006281 9.26 FANCD2 FANCI FANCM RAD51C
4 interstrand cross-link repair GO:0036297 8.8 FANCD2 FANCI FANCM

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

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

Sources for Fanconi Anemia, Complementation Group O

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