FANCR
MCID: FNC058
MIFTS: 43

Fanconi Anemia, Complementation Group R (FANCR)

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 R

MalaCards integrated aliases for Fanconi Anemia, Complementation Group R:

Name: Fanconi Anemia, Complementation Group R 57 72 29 6 39
Fancr 57 12 72
Fanconi Anemia Complementation Group R 12 15

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
two unrelated patients have been reported (last curated june 2020)


HPO:

31
fanconi anemia, complementation group r:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111090
OMIM® 57 617244
OMIM Phenotypic Series 57 PS227650
MeSH 44 D005199

Summaries for Fanconi Anemia, Complementation Group R

UniProtKB/Swiss-Prot : 72 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 maternal uniparental disomy and maternal uniparental disomy of chromosome 16. An important gene associated with Fanconi Anemia, Complementation Group R is RAD51 (RAD51 Recombinase), and among its related pathways/superpathways are Chks in Checkpoint Regulation and DNA Double-Strand Break Repair. Affiliated tissues include bone marrow, bone and kidney, and related phenotypes are intellectual disability and hydrocephalus

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

More information from OMIM: 617244 PS227650

Related Diseases for Fanconi Anemia, Complementation Group R

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 maternal uniparental disomy 10.2 SLX4 FANCA
2 maternal uniparental disomy of chromosome 16 10.2 SLX4 FANCA
3 xfe progeroid syndrome 10.2 SLX4 ERCC6
4 vacterl with hydrocephalus 10.1 FANCL FANCB
5 xeroderma pigmentosum, complementation group g 10.1 SLX4 RAD51 ERCC6
6 vacterl association, x-linked, with or without hydrocephalus 10.1 FANCL FANCB
7 cerebellar disease 10.1 RAD51 FANCB ERCC6
8 interstitial nephritis, karyomegalic 10.1 SLX4 FANCI FANCD2
9 mirror movements 1 10.0 RAD51C RAD51
10 vacterl association 10.0 FANCL FANCI FANCB
11 xeroderma pigmentosum, complementation group f 10.0 SLX4 FANCM FANCD2 ERCC6
12 pituitary stalk interruption syndrome 9.9 FANCG FANCD2 FANCA
13 fanconi anemia, complementation group l 9.9 UBE2T FANCL FANCI FANCD2
14 nijmegen breakage syndrome 9.9 RAD51 FANCF FANCD2 FANCB
15 peliosis hepatis 9.8 FANCG FANCC FANCA
16 bloom syndrome 9.8 RAD51 FANCM FANCC FANCA
17 peritoneum cancer 9.7 RAD51C PALB2
18 li-fraumeni syndrome 9.7 RAD51C RAD51 PALB2
19 dyskeratosis congenita 9.7 SLX4 FANCD2 FANCC FANCA
20 tracheoesophageal fistula with or without esophageal atresia 9.7 PALB2 FANCC
21 breast-ovarian cancer, familial 1 9.7 RAD51C PALB2
22 pancytopenia 9.7 FANCG FANCC FANCA
23 fallopian tube disease 9.6 RAD51C PALB2
24 microcephaly 9.4 SLX4 RAD51C RAD51 FANCI FANCE FANCA
25 hereditary breast ovarian cancer syndrome 9.4 RAD51C RAD51 PALB2 FANCM FANCG
26 sporadic breast cancer 9.4 RAD51C RAD51 PALB2 FANCF FANCD2
27 fanconi anemia, complementation group i 9.3 FANCM FANCL FANCI FANCF FANCD2 FANCA
28 seckel syndrome 9.3 RAD51 FANCM FANCL FANCI FANCE FANCD2
29 fanconi anemia, complementation group e 9.2 FANCG FANCF FANCE FANCD2 FANCC FANCA
30 fanconi anemia, complementation group f 9.2 FANCG FANCF FANCE FANCD2 FANCC FANCA
31 fanconi anemia, complementation group c 9.0 UBE2T FANCL FANCI FANCF FANCD2 FANCC
32 squamous cell carcinoma, head and neck 8.9 FANCL FANCG FANCF FANCE FANCD2 FANCC
33 fanconi anemia, complementation group b 8.9 FANCL FANCG FANCF FANCE FANCD2 FANCC
34 xeroderma pigmentosum, variant type 8.8 SLX4 RAD51 FANCM FANCL FANCI FANCG
35 fanconi anemia, complementation group u 8.7 UBE2T SLX4 RFWD3 RAD51C FANCM FANCL
36 deficiency anemia 8.6 FANCM FANCI FANCG FANCF FANCE FANCD2
37 fanconi anemia, complementation group v 8.6 UBE2T SLX4 RFWD3 FANCM FANCL FANCI
38 esophageal atresia 8.6 FANCM FANCL FANCI FANCG FANCF FANCE
39 fanconi anemia, complementation group d2 8.3 UBE2T RAD51 FANCM FANCL FANCI FANCG
40 fanconi anemia, complementation group t 8.2 UBE2T SLX4 FANCM FANCL FANCI FANCG
41 fanconi anemia, complementation group p 7.6 SLX4 RAD51C PALB2 FANCM FANCL FANCI
42 aplastic anemia 7.5 SLX4 RAD51C RAD51 PALB2 FANCM FANCL
43 fanconi anemia, complementation group j 7.5 SLX4 RAD51C RAD51 PALB2 FANCM FANCL
44 fanconi anemia, complementation group q 7.5 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
45 fanconi anemia, complementation group o 7.5 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
46 fanconi anemia, complementation group n 7.5 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
47 fanconi anemia, complementation group d1 7.4 UBE2T SLX4 RAD51C RAD51 PALB2 FANCM
48 fanconi anemia, complementation group a 7.1 UBE2T SLX4 RFWD3 RAD51C RAD51 PALB2

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

Human phenotypes related to Fanconi Anemia, Complementation Group R:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hydrocephalus 31 HP:0000238
3 microcephaly 31 HP:0000252
4 growth delay 31 HP:0001510
5 anal atresia 31 HP:0002023

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Head And Neck Head:
microcephaly

Growth Other:
growth retardation

Head And Neck Teeth:
dental anomalies

Skeletal Limbs:
radial ray anomalies

Genitourinary Kidneys:
displaced kidney

Hematology:
no bone marrow failure
no anemia

Neurologic Central Nervous System:
hydrocephalus
delayed early milestones
intellectual disability (1 patient)
learning disabilities (1 patient)

Head And Neck Eyes:
microphthalmia

Abdomen Gastrointestinal:
imperforate anus

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

Genitourinary External Genitalia Male:
abnormal testicle

Skeletal Hands:
thumb anomalies

Clinical features from OMIM®:

617244 (Updated 05-Apr-2021)

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

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 10.22 FANCC FANCF FANCL RFWD3
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 10.22 FANCC FANCF FANCL RFWD3
3 Decreased homologous recombination repair frequency GR00151-A-1 10.18 RAD51
4 Decreased homologous recombination repair frequency GR00151-A-2 10.18 RAD51
5 Decreased homologous recombination repair frequency GR00236-A-1 10.18 FANCA PALB2 RAD51
6 Decreased homologous recombination repair frequency GR00236-A-2 10.18 FANCA PALB2 RAD51
7 Decreased homologous recombination repair frequency GR00236-A-3 10.18 FANCA PALB2 RAD51 RFWD3
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.9 ERCC6 FANCA FANCD2 PALB2 UBE2T
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.9 ERCC6 FANCA FANCD2 FANCM PALB2 UBE2T
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.9 ERCC6 FANCA FANCD2 UBE2T FANCC FANCE
11 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.73 FANCM
12 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.73 FANCA FANCD2 FANCM PALB2 RAD51 UBE2T
13 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.73 FANCA FANCM PALB2 RAD51 UBE2T
14 Increased gamma-H2AX phosphorylation GR00053-A 9.7 FANCA FANCC FANCE FANCI FANCM PALB2
15 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.67 FANCC FANCF FANCL RFWD3
16 Decreased viability after sindbis virus (SIN) dsTE12Q infection GR00242-A-3 9.43 FANCF FANCL RFWD3

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 ERCC6 FANCA FANCB FANCC FANCD2 FANCE
2 endocrine/exocrine gland MP:0005379 10.1 FANCA FANCB FANCC FANCD2 FANCE FANCF
3 growth/size/body region MP:0005378 10 ERCC6 FANCA FANCB FANCD2 FANCE FANCF
4 mortality/aging MP:0010768 9.93 ERCC6 FANCA FANCD2 FANCF FANCI FANCL
5 neoplasm MP:0002006 9.43 ERCC6 FANCA FANCD2 FANCF FANCM PALB2
6 reproductive system MP:0005389 9.4 FANCA FANCB FANCC FANCD2 FANCE FANCF

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:

40
Bone Marrow, Bone, Kidney

Publications for Fanconi Anemia, Complementation Group R

Articles related to Fanconi Anemia, Complementation Group R:

# Title Authors PMID Year
1
A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. 57 6 61
26253028 2015
2
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. 57 6
26681308 2015
3
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
4
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 61
31044434 2019
5
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. 61
27760710 2017
6
FANCI-FANCD2 stabilizes the RAD51-DNA complex by binding RAD51 and protects the 5'-DNA end. 61
27694619 2016
7
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
8
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 61
26254775 2015

Variations for Fanconi Anemia, Complementation Group R

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAD51 NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) SNV Pathogenic 372139 rs1057519413 GRCh37: 15:41022153-41022153
GRCh38: 15:40729955-40729955
2 RAD51 NM_002875.5(RAD51):c.391A>C (p.Thr131Pro) SNV Pathogenic 916731 GRCh37: 15:41001270-41001270
GRCh38: 15:40709072-40709072
3 RAD51 NM_002875.5(RAD51):c.772G>A (p.Glu258Lys) SNV Likely pathogenic 522859 rs1555429629 GRCh37: 15:41021830-41021830
GRCh38: 15:40729632-40729632

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

72
# Symbol AA change Variation ID SNP ID
1 RAD51 p.Ala293Thr VAR_076593 rs105751941
2 RAD51 p.Thr131Pro VAR_076870

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 RAD51 FANCG FANCF FANCE FANCD2 FANCC
2
Show member pathways
12.53 UBE2T SLX4 RAD51C RAD51 PALB2 FANCM
3 12.24 UBE2T RAD51 FANCD2 FANCB FANCA
4
Show member pathways
12.03 SLX4 RAD51C RAD51 PALB2
5
Show member pathways
11.88 SLX4 RAD51C RAD51 PALB2
6 11.8 UBE2T SLX4 RAD51C RAD51 PALB2 FANCM
7
Show member pathways
11.78 RAD51 FANCL FANCG FANCF FANCE FANCD2
8 11.22 RAD51 FANCL FANCG FANCF FANCE FANCD2
9 10.98 UBE2T FANCI

GO Terms for Fanconi Anemia, Complementation Group R

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.09 UBE2T SLX4 RFWD3 RAD51C RAD51 PALB2
2 nucleoplasm GO:0005654 9.89 UBE2T SLX4 RFWD3 RAD51C RAD51 PALB2
3 condensed chromosome GO:0000793 9.37 RAD51 FANCD2
4 site of DNA damage GO:0090734 9.32 RFWD3 ERCC6
5 Holliday junction resolvase complex GO:0048476 9.26 SLX4 RAD51C
6 Fanconi anaemia nuclear complex GO:0043240 9.23 FANCM FANCL FANCG FANCF FANCE FANCC

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 10 UBE2T SLX4 RFWD3 RAD51 FANCM FANCL
2 cellular response to DNA damage stimulus GO:0006974 9.89 UBE2T SLX4 RFWD3 RAD51C RAD51 PALB2
3 DNA recombination GO:0006310 9.67 SLX4 RAD51C RAD51 PALB2
4 double-strand break repair via homologous recombination GO:0000724 9.65 SLX4 RFWD3 RAD51C RAD51 PALB2
5 protein monoubiquitination GO:0006513 9.58 UBE2T FANCL
6 regulation of DNA-binding transcription factor activity GO:0051090 9.58 FANCD2 FANCA
7 replication fork processing GO:0031297 9.58 RFWD3 RAD51 FANCM
8 response to gamma radiation GO:0010332 9.57 FANCD2 ERCC6
9 brain morphogenesis GO:0048854 9.56 FANCD2 FANCC
10 neuronal stem cell population maintenance GO:0097150 9.55 FANCD2 FANCC
11 DNA repair GO:0006281 9.55 UBE2T SLX4 RFWD3 RAD51C RAD51 PALB2
12 response to X-ray GO:0010165 9.54 RAD51 ERCC6
13 resolution of meiotic recombination intermediates GO:0000712 9.52 SLX4 FANCM
14 regulation of regulatory T cell differentiation GO:0045589 9.51 FANCD2 FANCA
15 gamete generation GO:0007276 9.5 FANCL FANCD2 FANCC
16 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.49 FANCB ERCC6
17 telomere maintenance via recombination GO:0000722 9.48 RAD51C RAD51
18 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.46 RAD51 FANCB
19 regulation of CD40 signaling pathway GO:2000348 9.43 FANCD2 FANCA

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.62 UBE2T RAD51 FANCM ERCC6
2 four-way junction DNA binding GO:0000400 9.26 RAD51C FANCM
3 crossover junction endodeoxyribonuclease activity GO:0008821 9.16 SLX4 RAD51C
4 DNA-dependent ATPase activity GO:0008094 9.13 RAD51C RAD51 ERCC6
5 DNA polymerase binding GO:0070182 8.8 RAD51 FANCI FANCD2

Sources for Fanconi Anemia, Complementation Group R

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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