MCID: FNC048
MIFTS: 25

Fanconi Anemia, Complementation Group O

Categories: Genetic diseases, Blood diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal 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
Fanco 57 12 75
Fanconi Anemia Complementation Group O 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 fanco, is related to breast-ovarian cancer, familial 3. An important gene associated with Fanconi Anemia, Complementation Group O is RAD51C (RAD51 Paralog C). Affiliated tissues include bone marrow, bone and kidney, and related phenotypes are cryptorchidism and renal cyst

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

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

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 cell death HMECs cells GR00103-A-0 8.62 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 Marrow, Bone, Kidney, Heart

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 634)
# 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.706-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587780259 GRCh37 Chromosome 17, 56787218: 56787218
10 RAD51C NM_058216.2(RAD51C): c.706-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587780259 GRCh38 Chromosome 17, 58709857: 58709857
11 RAD51C NM_058216.2(RAD51C): c.1027-2A> G single nucleotide variant Pathogenic rs587780835 GRCh37 Chromosome 17, 56811477: 56811477
12 RAD51C NM_058216.2(RAD51C): c.1027-2A> G single nucleotide variant Pathogenic rs587780835 GRCh38 Chromosome 17, 58734116: 58734116
13 RAD51C NM_058216.2(RAD51C): c.97_98delCA (p.Gln33Aspfs) deletion Pathogenic rs587780840 GRCh37 Chromosome 17, 56770101: 56770102
14 RAD51C NM_058216.2(RAD51C): c.97_98delCA (p.Gln33Aspfs) deletion Pathogenic rs587780840 GRCh38 Chromosome 17, 58692740: 58692741
15 RAD51C NM_058216.2(RAD51C): c.955C> T (p.Arg319Ter) single nucleotide variant Pathogenic rs587781287 GRCh37 Chromosome 17, 56801451: 56801451
16 RAD51C NM_058216.2(RAD51C): c.955C> T (p.Arg319Ter) single nucleotide variant Pathogenic rs587781287 GRCh38 Chromosome 17, 58724090: 58724090
17 RAD51C NM_058216.2(RAD51C): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs200293302 GRCh37 Chromosome 17, 56780562: 56780562
18 RAD51C NM_058216.2(RAD51C): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs200293302 GRCh38 Chromosome 17, 58703201: 58703201
19 RAD51C NM_058216.2(RAD51C): c.502A> T (p.Arg168Ter) single nucleotide variant Pathogenic rs587781490 GRCh37 Chromosome 17, 56774151: 56774151
20 RAD51C NM_058216.2(RAD51C): c.502A> T (p.Arg168Ter) single nucleotide variant Pathogenic rs587781490 GRCh38 Chromosome 17, 58696790: 58696790
21 RAD51C NM_058216.2(RAD51C): c.905-2_905-1delAG deletion Pathogenic/Likely pathogenic rs587781995 GRCh37 Chromosome 17, 56801399: 56801400
22 RAD51C NM_058216.2(RAD51C): c.905-2_905-1delAG deletion Pathogenic/Likely pathogenic rs587781995 GRCh38 Chromosome 17, 58724038: 58724039
23 RAD51C NM_058216.2(RAD51C): c.405-1G> C single nucleotide variant Likely pathogenic rs587782036 GRCh37 Chromosome 17, 56774053: 56774053
24 RAD51C NM_058216.2(RAD51C): c.405-1G> C single nucleotide variant Likely pathogenic rs587782036 GRCh38 Chromosome 17, 58696692: 58696692
25 RAD51C NM_058216.2(RAD51C): c.186_187delAA (p.Gln62Hisfs) deletion Pathogenic rs587782170 GRCh37 Chromosome 17, 56772332: 56772333
26 RAD51C NM_058216.2(RAD51C): c.186_187delAA (p.Gln62Hisfs) deletion Pathogenic rs587782170 GRCh38 Chromosome 17, 58694971: 58694972
27 RAD51C NM_058216.2(RAD51C): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs587782528 GRCh37 Chromosome 17, 56770101: 56770101
28 RAD51C NM_058216.2(RAD51C): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs587782528 GRCh38 Chromosome 17, 58692740: 58692740
29 RAD51C NM_058216.2(RAD51C): c.904+5G> T single nucleotide variant Likely pathogenic rs587782702 GRCh37 Chromosome 17, 56798178: 56798178
30 RAD51C NM_058216.2(RAD51C): c.904+5G> T single nucleotide variant Likely pathogenic rs587782702 GRCh38 Chromosome 17, 58720817: 58720817
31 RAD51C NM_058216.2(RAD51C): c.701C> G (p.Ser234Ter) single nucleotide variant Pathogenic rs587782818 GRCh37 Chromosome 17, 56780686: 56780686
32 RAD51C NM_058216.2(RAD51C): c.701C> G (p.Ser234Ter) single nucleotide variant Pathogenic rs587782818 GRCh38 Chromosome 17, 58703325: 58703325
33 RAD51C NM_058216.2(RAD51C): c.29T> G (p.Met10Arg) single nucleotide variant Uncertain significance rs730881936 GRCh38 Chromosome 17, 58692672: 58692672
34 RAD51C NM_058216.2(RAD51C): c.29T> G (p.Met10Arg) single nucleotide variant Uncertain significance rs730881936 GRCh37 Chromosome 17, 56770033: 56770033
35 RAD51C NM_058216.2(RAD51C): c.32A> G (p.Gln11Arg) single nucleotide variant Uncertain significance rs730881937 GRCh38 Chromosome 17, 58692675: 58692675
36 RAD51C NM_058216.2(RAD51C): c.32A> G (p.Gln11Arg) single nucleotide variant Uncertain significance rs730881937 GRCh37 Chromosome 17, 56770036: 56770036
37 RAD51C NM_058216.2(RAD51C): c.93delG (p.Phe32Serfs) deletion Pathogenic rs730881942 GRCh38 Chromosome 17, 58692736: 58692736
38 RAD51C NM_058216.2(RAD51C): c.93delG (p.Phe32Serfs) deletion Pathogenic rs730881942 GRCh37 Chromosome 17, 56770097: 56770097
39 RAD51C NM_058216.2(RAD51C): c.154A> C (p.Ile52Leu) single nucleotide variant Uncertain significance rs730881927 GRCh38 Chromosome 17, 58694939: 58694939
40 RAD51C NM_058216.2(RAD51C): c.154A> C (p.Ile52Leu) single nucleotide variant Uncertain significance rs730881927 GRCh37 Chromosome 17, 56772300: 56772300
41 RAD51C NM_058216.2(RAD51C): c.164C> T (p.Ala55Val) single nucleotide variant Uncertain significance rs730881928 GRCh38 Chromosome 17, 58694949: 58694949
42 RAD51C NM_058216.2(RAD51C): c.164C> T (p.Ala55Val) single nucleotide variant Uncertain significance rs730881928 GRCh37 Chromosome 17, 56772310: 56772310
43 RAD51C NM_058216.2(RAD51C): c.189T> C (p.Ile63=) single nucleotide variant Benign/Likely benign rs730881923 GRCh38 Chromosome 17, 58694974: 58694974
44 RAD51C NM_058216.2(RAD51C): c.189T> C (p.Ile63=) single nucleotide variant Benign/Likely benign rs730881923 GRCh37 Chromosome 17, 56772335: 56772335
45 RAD51C NM_058216.2(RAD51C): c.200A> G (p.Glu67Gly) single nucleotide variant Uncertain significance rs375451955 GRCh38 Chromosome 17, 58694985: 58694985
46 RAD51C NM_058216.2(RAD51C): c.200A> G (p.Glu67Gly) single nucleotide variant Uncertain significance rs375451955 GRCh37 Chromosome 17, 56772346: 56772346
47 RAD51C NM_058216.2(RAD51C): c.224dupA (p.Tyr75Terfs) duplication Pathogenic rs730881939 GRCh38 Chromosome 17, 58695009: 58695009
48 RAD51C NM_058216.2(RAD51C): c.224dupA (p.Tyr75Terfs) duplication Pathogenic rs730881939 GRCh37 Chromosome 17, 56772370: 56772370
49 RAD51C NM_058216.2(RAD51C): c.234A> G (p.Thr78=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881929 GRCh38 Chromosome 17, 58695019: 58695019
50 RAD51C NM_058216.2(RAD51C): c.234A> G (p.Thr78=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881929 GRCh37 Chromosome 17, 56772380: 56772380

Expression for Fanconi Anemia, Complementation Group O

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Pathways for Fanconi Anemia, Complementation Group O

GO Terms for Fanconi Anemia, Complementation Group O

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