MCID: FNC058
MIFTS: 20

Fanconi Anemia, Complementation Group R

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

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, is also known as fancr. An important gene associated with Fanconi Anemia, Complementation Group R is RAD51 (RAD51 Recombinase). Affiliated tissues include bone and bone marrow, and related phenotypes are hydrocephalus and microcephaly

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

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group R

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
growth retardation

Abdomen Gastrointestinal:
imperforate anus

Skeletal Limbs:
radial anomalies

Neurologic Central Nervous System:
hydrocephalus
intellectual disability
learning disabilities

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

Head And Neck Head:
microcephaly

Genitourinary External Genitalia Male:
abnormal testicle

Skeletal Hands:
thumb anomalies

Hematology:
no bone marrow failure
no anemia


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 microcephaly 32 HP:0000252
3 intellectual disability 32 HP:0001249
4 growth delay 32 HP:0001510
5 anal atresia 32 HP:0002023

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

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 rs1057519413Fanconi
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_002875.3(RAD51): c.772G> A (p.Glu258Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 41021830: 41021830
4 RAD51 NM_002875.3(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

GO Terms for Fanconi Anemia, Complementation Group R

Sources for Fanconi Anemia, Complementation Group R

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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54 NINDS
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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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