FANCR
MCID: FNC058
MIFTS: 42

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 56 73 29 6 39
Fancr 56 12 73
Fanconi Anemia Complementation Group R 12 15

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111090
OMIM 56 617244
OMIM Phenotypic Series 56 PS227650
MeSH 43 D005199

Summaries for Fanconi Anemia, Complementation Group R

UniProtKB/Swiss-Prot : 73 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 DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone, bone marrow and breast, 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 38)
# 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 esophageal atresia/tracheoesophageal fistula 10.1 FANCB FANCA
4 thrombophlebitis migrans 10.0 SLX4 FANCI FANCA
5 fanconi anemia, complementation group i 10.0 FANCM FANCI FANCD2
6 interstitial nephritis, karyomegalic 10.0 SLX4 FANCI FANCD2
7 mirror movements 1 10.0 RAD51C RAD51
8 rothmund-thomson syndrome, type 2 10.0 RAD51 FANCM
9 xeroderma pigmentosum, complementation group f 10.0 SLX4 FANCM FANCD2
10 bloom syndrome 9.9 RAD51 FANCM FANCA
11 vacterl association 9.8 FANCL FANCI FANCB
12 fanconi anemia, complementation group l 9.7 UBE2T FANCL FANCI FANCD2
13 fanconi anemia, complementation group d2 9.5 RAD51 FANCI FANCG FANCD2 FANCA
14 bilateral breast cancer 9.5 RAD51 PALB2
15 cowden syndrome 9.4 RAD51C RAD51 PALB2
16 seckel syndrome 9.4 RAD51 FANCM FANCI FANCE FANCD2 FANCA
17 aplastic anemia 9.3 FANCM FANCI FANCG FANCD2 FANCA
18 hereditary breast ovarian cancer syndrome 9.2 RAD51C RAD51 PALB2 FANCG
19 fanconi anemia, complementation group f 9.2 FANCG FANCF FANCE FANCD2 FANCA
20 fanconi anemia, complementation group e 9.2 FANCG FANCF FANCE FANCD2 FANCA
21 fanconi anemia, complementation group c 9.2 FANCL FANCI FANCF FANCD2 FANCA
22 sporadic breast cancer 9.0 RAD51C RAD51 PALB2 FANCF FANCD2
23 deficiency anemia 9.0 FANCG FANCF FANCE FANCD2 FANCB FANCA
24 esophageal atresia 8.7 SLX4 FANCM FANCL FANCI FANCE FANCD2
25 xeroderma pigmentosum, variant type 8.7 SLX4 RAD51 MAD2L2 FANCM FANCI FANCG
26 squamous cell carcinoma, head and neck 8.7 FANCL FANCG FANCF FANCE FANCD2 FANCA
27 fanconi anemia, complementation group b 8.5 FANCL FANCG FANCF FANCE FANCD2 FANCB
28 fanconi anemia, complementation group v 8.2 UBE2T SLX4 MAD2L2 FANCM FANCL FANCI
29 fanconi anemia, complementation group t 7.7 UBE2T SLX4 FANCM FANCL FANCI FANCG
30 fanconi anemia, complementation group u 7.5 UBE2T SLX4 RAD51C MAD2L2 FANCM FANCL
31 fanconi anemia, complementation group p 7.0 SLX4 RAD51C PALB2 FANCM FANCL FANCI
32 fanconi anemia, complementation group o 7.0 SLX4 RAD51C PALB2 FANCM FANCL FANCI
33 fanconi anemia, complementation group j 6.8 SLX4 RAD51C RAD51 PALB2 FANCM FANCL
34 fanconi anemia, complementation group q 6.8 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
35 fanconi anemia, complementation group n 6.8 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
36 congenital hypoplastic anemia 6.6 UBE2T SLX4 RAD51C RAD51 PALB2 FANCM
37 fanconi anemia, complementation group d1 6.6 UBE2T SLX4 RAD51C RAD51 PALB2 FANCM
38 fanconi anemia, complementation group a 6.2 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2

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:

56
Neurologic Central Nervous System:
intellectual disability
hydrocephalus
learning disabilities

Growth Other:
growth retardation

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

Abdomen Gastrointestinal:
imperforate anus

Skeletal Limbs:
radial anomalies

Skeletal Hands:
thumb anomalies

Clinical features from OMIM:

617244

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 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.77 FANCA FANCD2 FANCE FANCF FANCG FANCI
2 Decreased homologous recombination repair frequency GR00151-A-1 9.55 RAD51
3 Decreased homologous recombination repair frequency GR00151-A-2 9.55 RAD51
4 Decreased homologous recombination repair frequency GR00236-A-3 9.55 FANCA PALB2 RAD51
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.36 FANCA FANCD2 FANCM PALB2 UBE2T
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.36 FANCA FANCD2 FANCM PALB2 RAD51 UBE2T

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 FANCA FANCB FANCD2 FANCE FANCF FANCG
2 endocrine/exocrine gland MP:0005379 10.06 FANCA FANCB FANCD2 FANCE FANCF FANCG
3 growth/size/body region MP:0005378 10 FANCA FANCB FANCD2 FANCE FANCF FANCL
4 mortality/aging MP:0010768 9.9 FANCA FANCD2 FANCF FANCI FANCL FANCM
5 reproductive system MP:0005389 9.36 FANCA FANCB FANCD2 FANCE FANCF FANCG
6 neoplasm MP:0002006 9.35 FANCA FANCD2 FANCF FANCM PALB2

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, Bone Marrow, Breast, B Cells, Skin

Publications for Fanconi Anemia, Complementation Group R

Articles related to Fanconi Anemia, Complementation Group R:

# Title Authors PMID Year
1
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. 56 6
26681308 2015
2
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
3
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
4
Fanconi Anemia 6
20301575 2002
5
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 61
31044434 2019
6
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. 61
27760710 2017
7
FANCI-FANCD2 stabilizes the RAD51-DNA complex by binding RAD51 and protects the 5'-DNA end. 61
27694619 2016
8
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
9
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 61
26254775 2015
10
A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. 61
26253028 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 GRCh37 Pos GRCh38 Pos
1 RAD51 NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)SNV Pathogenic 372139 rs1057519413 15:41022153-41022153 15:40729955-40729955
2 RAD51 NM_002875.5(RAD51):c.772G>A (p.Glu258Lys)SNV Likely pathogenic 522859 rs1555429629 15:41021830-41021830 15:40729632-40729632

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

73
# 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
12.5 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
2
Show member pathways
12.41 RAD51 FANCG FANCF FANCE FANCD2 FANCA
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 11.77 UBE2T SLX4 RAD51C RAD51 PALB2 FANCM
7
Show member pathways
11.72 RAD51 FANCL FANCG FANCF FANCE FANCD2
8 11.16 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 10.03 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
2 nucleoplasm GO:0005654 9.83 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
3 nucleolus GO:0005730 9.72 UBE2T RAD51 MAD2L2 FANCG FANCD2
4 condensed chromosome GO:0000793 9.37 RAD51 FANCD2
5 Holliday junction resolvase complex GO:0048476 9.26 SLX4 RAD51C
6 Fanconi anaemia nuclear complex GO:0043240 9.17 FANCM FANCL FANCG FANCF FANCE FANCB

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 9.93 UBE2T SLX4 RAD51 FANCM FANCL FANCI
2 cellular response to DNA damage stimulus GO:0006974 9.83 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
3 DNA recombination GO:0006310 9.62 SLX4 RAD51C RAD51 PALB2
4 protein monoubiquitination GO:0006513 9.56 UBE2T FANCL
5 double-strand break repair via homologous recombination GO:0000724 9.56 SLX4 RAD51C RAD51 PALB2
6 reciprocal meiotic recombination GO:0007131 9.55 RAD51C RAD51
7 regulation of DNA-binding transcription factor activity GO:0051090 9.54 FANCD2 FANCA
8 replication fork processing GO:0031297 9.52 RAD51 FANCM
9 gamete generation GO:0007276 9.51 FANCL FANCD2
10 DNA repair GO:0006281 9.5 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
11 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.49 MAD2L2 FANCB
12 resolution of meiotic recombination intermediates GO:0000712 9.48 SLX4 FANCM
13 regulation of regulatory T cell differentiation GO:0045589 9.46 FANCD2 FANCA
14 telomere maintenance via recombination GO:0000722 9.43 RAD51C RAD51
15 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.4 RAD51 FANCB
16 regulation of CD40 signaling pathway GO:2000348 9.37 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 protein binding GO:0005515 10 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
2 crossover junction endodeoxyribonuclease activity GO:0008821 8.96 SLX4 RAD51C
3 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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