FANCR
MCID: FNC058
MIFTS: 44

Fanconi Anemia, Complementation Group R (FANCR)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group R

MalaCards integrated aliases for Fanconi Anemia, Complementation Group R:

Name: Fanconi Anemia, Complementation Group R 57 75 29 6 40
Fancr 57 12 75
Fanconi Anemia Complementation Group R 12 15

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
one patient has been reported (last curated december 2016)


HPO:

32
fanconi anemia, complementation group r:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group R

UniProtKB/Swiss-Prot : 75 Fanconi anemia, complementation group R: 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.

MalaCards based summary : Fanconi Anemia, Complementation Group R, also known as fancr, is related to fanconi anemia, complementation group n and fanconi anemia, complementation group i. An important gene associated with Fanconi Anemia, Complementation Group R is RAD51 (RAD51 Recombinase), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are hydrocephalus and intellectual disability

Disease Ontology : 12 A Fanconi anemia that has material basis in heterozygous mutation in the RAD51 gene on chromosome 15q15.

Description from OMIM: 617244

Related Diseases for Fanconi Anemia, Complementation Group R

Diseases in the Fanconi Anemia, Complementation Group a family:

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 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 R via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group n 10.2 FANCI FANCM
2 fanconi anemia, complementation group i 10.1 FANCD2 FANCI
3 fanconi anemia, complementation group d2 10.1 FANCD2 RAD51
4 fanconi anemia, complementation group d1 10.1 FANCD2 FANCE
5 fanconi anemia, complementation group o 10.1 FANCD2 FANCI FANCM
6 acoustic neuroma 10.0 ERCC4 RAD51
7 bilateral breast cancer 10.0 BRCA1 RAD51
8 cerebro-oculo-facio-skeletal syndrome 10.0 ERCC1 ERCC4
9 bloom syndrome 10.0 FANCM RAD51 WRN
10 fanconi anemia, complementation group l 10.0 FANCD2 FANCL UBE2T
11 fanconi anemia, complementation group b 10.0 FANCD2 FANCE FANCL
12 xeroderma pigmentosum, complementation group g 10.0 ERCC1 ERCC4
13 xeroderma pigmentosum, variant type 9.9 ERCC1 ERCC4 RAD51
14 autosomal dominant progressive external ophthalmoplegia 9.9 DNA2 FANCI
15 sporadic breast cancer 9.9 BRCA1 FANCD2 RAD51
16 xeroderma pigmentosum, complementation group f 9.9 ERCC1 ERCC4
17 primary peritoneal carcinoma 9.9 BRCA1 ERCC1
18 xfe progeroid syndrome 9.9 ERCC1 ERCC4 WRN
19 fanconi anemia, complementation group e 9.8 BRCA1 FANCD2 FANCE FANCI
20 hereditary breast ovarian cancer syndrome 9.8 BRCA1 RAD51 XRCC2
21 congenital hypoplastic anemia 9.7 FANCD2 FANCE FANCI FANCL FANCM RAD51
22 fanconi anemia, complementation group j 9.7 BRCA1 FANCD2 FANCI FANCL FANCM
23 fanconi anemia, complementation group u 9.5 BRCA1 FANCD2 MAD2L2 RAD51 UBE2T XRCC2
24 fanconi anemia, complementation group v 9.3 BRCA1 DNA2 FANCD2 MAD2L2 RAD51 UBE2T
25 fanconi anemia, complementation group q 8.7 BRCA1 ERCC1 ERCC4 FANCD2 FANCE FANCI
26 fanconi anemia, complementation group t 8.6 BRCA1 ERCC1 ERCC4 FANCD2 FANCE FANCI
27 fanconi anemia, complementation group a 8.3 BRCA1 DNA2 ERCC1 ERCC4 FANCD2 FANCE

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



Diseases related to Fanconi Anemia, Complementation Group R

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group R

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
intellectual disability
learning disabilities

Abdomen Gastrointestinal:
imperforate anus

Laboratory Abnormalities:
chromosome instability
defective dna repair
increased chromosomal breakage and in response to dna crosslinking agents

Genitourinary External Genitalia Male:
abnormal testicle

Hematology:
no bone marrow failure
no anemia

Head And Neck Head:
microcephaly

Growth Other:
growth retardation

Skeletal Limbs:
radial anomalies

Skeletal Hands:
thumb anomalies


Clinical features from OMIM:

617244

Human phenotypes related to Fanconi Anemia, Complementation Group R:

32
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 intellectual disability 32 HP:0001249
3 microcephaly 32 HP:0000252
4 growth delay 32 HP:0001510
5 anal atresia 32 HP:0002023

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group R according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.1 BRCA1 RAD51 XRCC2
2 Decreased homologous recombination repair frequency GR00151-A-2 10.1 BRCA1 RAD51 XRCC2
3 Decreased homologous recombination repair frequency GR00236-A-1 10.1 BRCA1 RAD51
4 Decreased homologous recombination repair frequency GR00236-A-2 10.1 BRCA1 RAD51
5 Decreased homologous recombination repair frequency GR00236-A-3 10.1 BRCA1 RAD51
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10 BRCA1 DNA2 ERCC1 ERCC4 FANCD2 FANCE
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.78 BRCA1 ERCC1 ERCC4 FANCD2 FANCM UBE2T
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 BRCA1 ERCC1 ERCC4 FANCD2 FANCM UBE2T
9 Decreased viability with cisplatin GR00101-A-4 9.43 BRCA1 MAD2L2 RAD51
10 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 RAD51

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 BRCA1 DNA2 ERCC1 ERCC4 FANCD2 FANCL
2 mortality/aging MP:0010768 9.93 BRCA1 DNA2 ERCC1 ERCC4 FANCD2 FANCI
3 growth/size/body region MP:0005378 9.91 BRCA1 ERCC1 ERCC4 FANCD2 FANCL MAD2L2
4 endocrine/exocrine gland MP:0005379 9.87 BRCA1 ERCC1 FANCD2 FANCL FANCM MAD2L2
5 neoplasm MP:0002006 9.5 BRCA1 DNA2 ERCC1 FANCD2 FANCM WRN
6 reproductive system MP:0005389 9.17 BRCA1 ERCC1 FANCD2 FANCL FANCM MAD2L2

Drugs & Therapeutics for Fanconi Anemia, Complementation Group R

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

Genetic Tests for Fanconi Anemia, Complementation Group R

Genetic tests related to Fanconi Anemia, Complementation Group R:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group R 29 RAD51

Anatomical Context for Fanconi Anemia, Complementation Group R

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

41
Bone, Bone Marrow, Skin

Publications for Fanconi Anemia, Complementation Group R

Variations for Fanconi Anemia, Complementation Group R

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

75
# Symbol AA change Variation ID SNP ID
1 RAD51 p.Ala293Thr VAR_076593 rs105751941
2 RAD51 p.Thr131Pro VAR_076870

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAD51 NM_002875.4(RAD51): c.877G> A (p.Ala293Thr) single nucleotide variant Pathogenic rs1057519413 GRCh38 Chromosome 15, 40729955: 40729955
2 RAD51 NM_002875.4(RAD51): c.877G> A (p.Ala293Thr) single nucleotide variant Pathogenic rs1057519413 GRCh37 Chromosome 15, 41022153: 41022153
3 RAD51 NM_002875.4(RAD51): c.772G> A (p.Glu258Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 41021830: 41021830
4 RAD51 NM_002875.4(RAD51): c.772G> A (p.Glu258Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 40729632: 40729632

Expression for Fanconi Anemia, Complementation Group R

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

Pathways for Fanconi Anemia, Complementation Group R

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 BRCA1 DNA2 ERCC1 ERCC4 FANCD2 FANCE
2
Show member pathways
12.73 BRCA1 DNA2 FANCD2 FANCI WRN
3
Show member pathways
12.52 BRCA1 ERCC1 ERCC4 FANCD2 FANCE RAD51
4 12.34 BRCA1 ERCC1 ERCC4 FANCD2 RAD51 UBE2T
5
Show member pathways
12.1 BRCA1 DNA2 ERCC1 ERCC4 RAD51 WRN
6
Show member pathways
11.98 BRCA1 DNA2 RAD51 WRN XRCC2
7
Show member pathways
11.69 BRCA1 FANCD2 FANCE FANCL RAD51
8
Show member pathways
11.61 BRCA1 FANCD2 RAD51
9 11.38 BRCA1 FANCD2 FANCL RAD51
10 11.3 BRCA1 ERCC1 ERCC4 FANCD2 FANCE FANCI
11 11.28 BRCA1 FANCD2 FANCL
12 11.08 FANCI UBE2T
13
Show member pathways
11.04 ERCC1 ERCC4
14 11.02 BRCA1 FANCD2 FANCE FANCL RAD51
15 11 ERCC1 ERCC4
16 10.9 BRCA1 WRN

GO Terms for Fanconi Anemia, Complementation Group R

Cellular components related to Fanconi Anemia, Complementation Group R according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 BRCA1 DNA2 ERCC1 ERCC4 FANCD2 FANCE
2 site of double-strand break GO:0035861 9.61 MAD2L2 RAD51 WRN
3 nuclear chromosome, telomeric region GO:0000784 9.56 DNA2 ERCC1 ERCC4 RAD51
4 condensed chromosome GO:0000793 9.5 BRCA1 FANCD2 RAD51
5 replication fork GO:0005657 9.49 WRN XRCC2
6 lateral element GO:0000800 9.48 BRCA1 RAD51
7 nucleoplasm GO:0005654 9.47 BRCA1 DNA2 ERCC1 ERCC4 FANCD2 FANCE
8 nucleotide-excision repair complex GO:0000109 9.46 ERCC1 ERCC4
9 ERCC4-ERCC1 complex GO:0070522 9.4 ERCC1 ERCC4
10 nucleotide-excision repair factor 1 complex GO:0000110 9.37 ERCC1 ERCC4
11 Fanconi anaemia nuclear complex GO:0043240 9.33 FANCE FANCL FANCM

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.81 BRCA1 DNA2 WRN
2 DNA repair GO:0006281 9.8 BRCA1 DNA2 ERCC1 ERCC4 FANCD2 FANCE
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.77 DNA2 ERCC1 ERCC4 FANCM WRN
4 double-strand break repair via nonhomologous end joining GO:0006303 9.74 BRCA1 ERCC1 ERCC4
5 double-strand break repair GO:0006302 9.73 BRCA1 ERCC1 MAD2L2 WRN
6 DNA recombination GO:0006310 9.72 BRCA1 ERCC1 RAD51 WRN XRCC2
7 telomere maintenance GO:0000723 9.69 DNA2 ERCC4 WRN
8 nucleotide-excision repair, DNA incision GO:0033683 9.66 ERCC1 ERCC4
9 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.66 ERCC1 ERCC4
10 DNA metabolic process GO:0006259 9.65 RAD51 WRN
11 protein monoubiquitination GO:0006513 9.65 FANCL UBE2T
12 response to gamma radiation GO:0010332 9.65 FANCD2 XRCC2
13 double-strand break repair via homologous recombination GO:0000724 9.65 BRCA1 ERCC4 RAD51 WRN XRCC2
14 global genome nucleotide-excision repair GO:0070911 9.64 ERCC1 ERCC4
15 gamete generation GO:0007276 9.63 FANCD2 FANCL
16 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.63 ERCC1 ERCC4
17 replication fork processing GO:0031297 9.63 FANCM RAD51 WRN
18 response to X-ray GO:0010165 9.62 ERCC1 XRCC2
19 resolution of meiotic recombination intermediates GO:0000712 9.62 ERCC4 FANCM
20 multicellular organism aging GO:0010259 9.61 ERCC1 WRN
21 DNA double-strand break processing GO:0000729 9.61 BRCA1 DNA2
22 UV protection GO:0009650 9.6 ERCC1 ERCC4
23 mitotic recombination GO:0006312 9.59 ERCC1 RAD51
24 protein K6-linked ubiquitination GO:0085020 9.58 BRCA1 UBE2T
25 G-quadruplex DNA unwinding GO:0044806 9.58 DNA2 WRN
26 t-circle formation GO:0090656 9.58 DNA2 ERCC1 WRN
27 replicative cell aging GO:0001302 9.56 ERCC1 WRN
28 negative regulation of telomere maintenance GO:0032205 9.55 ERCC1 ERCC4
29 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.54 ERCC1 ERCC4
30 strand invasion GO:0042148 9.52 RAD51 XRCC2
31 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.49 ERCC1 ERCC4
32 telomeric DNA-containing double minutes formation GO:0061819 9.48 ERCC1 ERCC4
33 interstrand cross-link repair GO:0036297 9.28 ERCC1 ERCC4 FANCD2 FANCE FANCI FANCL
34 cellular response to DNA damage stimulus GO:0006974 10 BRCA1 DNA2 ERCC1 ERCC4 FANCD2 FANCE

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.83 FANCM RAD51 UBE2T WRN
2 DNA binding GO:0003677 9.81 BRCA1 DNA2 ERCC1 ERCC4 FANCI FANCM
3 protein C-terminus binding GO:0008022 9.74 ERCC1 ERCC4 RAD51
4 helicase activity GO:0004386 9.71 DNA2 FANCM WRN
5 single-stranded DNA binding GO:0003697 9.65 ERCC1 ERCC4 RAD51
6 endonuclease activity GO:0004519 9.58 DNA2 ERCC1 ERCC4
7 DNA helicase activity GO:0003678 9.55 DNA2 WRN
8 four-way junction DNA binding GO:0000400 9.51 WRN XRCC2
9 damaged DNA binding GO:0003684 9.5 BRCA1 ERCC1 ERCC4
10 single-stranded DNA-dependent ATPase activity GO:0043142 9.46 DNA2 RAD51
11 TFIID-class transcription factor complex binding GO:0001094 9.43 ERCC1 ERCC4
12 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.37 ERCC1 ERCC4
13 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.26 ERCC1 ERCC4
14 DNA polymerase binding GO:0070182 9.13 FANCD2 FANCI RAD51
15 nuclease activity GO:0004518 9.02 DNA2 ERCC1 ERCC4 FANCM WRN
16 protein binding GO:0005515 10.31 BRCA1 DNA2 ERCC1 ERCC4 FANCD2 FANCI
17 ATP binding GO:0005524 10.03 DNA2 FANCM RAD51 UBE2T WRN XRCC2

Sources for Fanconi Anemia, Complementation Group R

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
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