FANCU
MCID: FNC057
MIFTS: 41

Fanconi Anemia, Complementation Group U (FANCU)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group U

MalaCards integrated aliases for Fanconi Anemia, Complementation Group U:

Name: Fanconi Anemia, Complementation Group U 57 75 29 6 40
Fancu 57 12 75
Fanconi Anemia Complementation Group U 12 15

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
fanconi anemia, complementation group u:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617247
Disease Ontology 12 DOID:0111085
MeSH 44 D005199

Summaries for Fanconi Anemia, Complementation Group U

UniProtKB/Swiss-Prot : 75 Fanconi anemia, complementation group U: 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 U, also known as fancu, is related to female reproductive system disease and fanconi anemia, complementation group l. An important gene associated with Fanconi Anemia, Complementation Group U is XRCC2 (X-Ray Repair Cross Complementing 2), and among its related pathways/superpathways are Chks in Checkpoint Regulation and DNA Double-Strand Break Repair. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are microcephaly and patent ductus arteriosus

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous mutation in the XRCC2 gene on chromosome 7q36.

Description from OMIM: 617247

Related Diseases for Fanconi Anemia, Complementation Group U

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 female reproductive system disease 9.9 BRCA1 XRCC2
2 fanconi anemia, complementation group l 9.9 FANCD2 UBE2T
3 bilateral breast cancer 9.9 BRCA1 RAD51
4 fanconi anemia, complementation group o 9.9 FANCD2 RAD51C
5 gonadal disease 9.9 BRCA1 RAD51C XRCC2
6 cowden disease 9.9 BRCA1 XRCC2
7 fanconi anemia, complementation group j 9.8 BRCA1 FANCD2
8 fanconi anemia, complementation group e 9.8 BRCA1 FANCD2
9 fanconi anemia, complementation group d2 9.8 FANCD2 RAD51
10 congenital hypoplastic anemia 9.8 FANCD2 RAD51
11 sporadic breast cancer 9.7 BRCA1 FANCD2 RAD51
12 hereditary breast ovarian cancer syndrome 9.6 BRCA1 RAD51 RAD51C XRCC2
13 fanconi anemia, complementation group q 9.4 BRCA1 FANCD2 RAD51 UBE2T XRCC2
14 fanconi anemia, complementation group v 9.3 BRCA1 FANCD2 MAD2L2 RAD51 UBE2T XRCC2
15 fanconi anemia, complementation group r 9.3 BRCA1 FANCD2 MAD2L2 RAD51 UBE2T XRCC2
16 fanconi anemia, complementation group t 9.2 BRCA1 FANCD2 MAD2L2 RAD51 UBE2T XRCC2
17 fanconi anemia, complementation group a 9.1 BRCA1 FANCD2 MAD2L2 RAD51 RAD51C UBE2T

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



Diseases related to Fanconi Anemia, Complementation Group U

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group U

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Growth Other:
poor growth

Skeletal Hands:
absent scaphoid bone
absent thumbs absent first metacarpal

Hematology:
no bone marrow failure

Cardiovascular Heart:
patent ductus arteriosus

Laboratory Abnormalities:
defective dna repair
increased chromosomal breakage and instability
cellular hypersensitivity to dna interstrand crosslinking agents
cellular hypersensitivity to ionizing radiation

Skeletal Limbs:
radial ray anomalies

Genitourinary Kidneys:
ectopic left kidney


Clinical features from OMIM:

617247

Human phenotypes related to Fanconi Anemia, Complementation Group U:

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 patent ductus arteriosus 32 HP:0001643
3 growth delay 32 HP:0001510
4 absent scaphoid 32 HP:0011835

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.48 BRCA1 RAD51 XRCC2
2 Decreased homologous recombination repair frequency GR00151-A-2 10.48 BRCA1 RAD51 XRCC2
3 Decreased homologous recombination repair frequency GR00236-A-1 10.48 BRCA1 RAD51
4 Decreased homologous recombination repair frequency GR00236-A-2 10.48 BRCA1 RAD51
5 Decreased homologous recombination repair frequency GR00236-A-3 10.48 BRCA1 RAD51
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.86 BRCA1 FANCD2 MAD2L2 RAD51 RAD51B RAD51C
7 Increased cell death HMECs cells GR00103-A-0 9.72 BRCA1 RAD51 RAD51B RAD51C UBE2T
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.55 BRCA1 FANCD2 UBE2T XRCC2
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.55 BRCA1 FANCD2 UBE2T XRCC2 RAD51
10 Decreased viability with cisplatin GR00101-A-4 9.54 BRCA1 MAD2L2 RAD51
11 Reduced mammosphere formation GR00396-S 9.46 FANCD2 RAD51 RAD51C XRCC2
12 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 RAD51

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.35 BRCA1 MAD2L2 RAD51 RAD51C XRCC2
2 mortality/aging MP:0010768 9.17 BRCA1 FANCD2 MAD2L2 RAD51 RAD51B RAD51C

Drugs & Therapeutics for Fanconi Anemia, Complementation Group U

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

Genetic Tests for Fanconi Anemia, Complementation Group U

Genetic tests related to Fanconi Anemia, Complementation Group U:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group U 29 XRCC2

Anatomical Context for Fanconi Anemia, Complementation Group U

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

41
Bone, Bone Marrow, Skin, Kidney

Publications for Fanconi Anemia, Complementation Group U

Variations for Fanconi Anemia, Complementation Group U

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 XRCC2 NM_005431.1(XRCC2): c.643C> T (p.Arg215Ter) single nucleotide variant Uncertain significance rs143153871 GRCh37 Chromosome 7, 152345927: 152345927
2 XRCC2 NM_005431.1(XRCC2): c.643C> T (p.Arg215Ter) single nucleotide variant Uncertain significance rs143153871 GRCh38 Chromosome 7, 152648842: 152648842

Expression for Fanconi Anemia, Complementation Group U

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

Pathways for Fanconi Anemia, Complementation Group U

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 BRCA1 FANCD2 RAD51
2
Show member pathways
12.23 BRCA1 FANCD2 MAD2L2 RAD51 RAD51B RAD51C
3 12.14 BRCA1 FANCD2 RAD51 UBE2T
4
Show member pathways
12.13 BRCA1 RAD51 RAD51C
5
Show member pathways
12.02 BRCA1 FANCD2 RAD51
6
Show member pathways
11.95 BRCA1 RAD51 RAD51B RAD51C XRCC2
7
Show member pathways
11.74 BRCA1 RAD51 RAD51B RAD51C XRCC2
8
Show member pathways
11.55 BRCA1 FANCD2 RAD51
9
Show member pathways
11.5 BRCA1 FANCD2 RAD51
10 11.33 BRCA1 FANCD2 RAD51 RAD51C UBE2T
11 11.23 BRCA1 FANCD2 RAD51
12 11.15 BRCA1 FANCD2
13 10.96 BRCA1 FANCD2 RAD51

GO Terms for Fanconi Anemia, Complementation Group U

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.97 BRCA1 FANCD2 MAD2L2 RAD51 RAD51B RAD51C
2 nucleoplasm GO:0005654 9.76 BRCA1 FANCD2 MAD2L2 RAD51 RAD51B RAD51C
3 site of double-strand break GO:0035861 9.43 MAD2L2 RAD51
4 condensed chromosome GO:0000793 9.43 BRCA1 FANCD2 RAD51
5 condensed nuclear chromosome GO:0000794 9.4 BRCA1 RAD51
6 lateral element GO:0000800 9.32 BRCA1 RAD51
7 replication fork GO:0005657 9.13 RAD51B RAD51C XRCC2
8 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 8.8 RAD51B RAD51C XRCC2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.65 BRCA1 RAD51 RAD51B RAD51C XRCC2
2 cellular response to DNA damage stimulus GO:0006974 9.56 BRCA1 FANCD2 MAD2L2 RAD51 RAD51B RAD51C
3 double-strand break repair GO:0006302 9.55 BRCA1 MAD2L2
4 double-strand break repair via homologous recombination GO:0000724 9.55 BRCA1 RAD51 RAD51B RAD51C XRCC2
5 protein autoubiquitination GO:0051865 9.54 BRCA1 UBE2T
6 interstrand cross-link repair GO:0036297 9.54 FANCD2 RAD51 UBE2T
7 centrosome cycle GO:0007098 9.52 BRCA1 XRCC2
8 negative regulation of G0 to G1 transition GO:0070317 9.51 BRCA1 RAD51
9 reciprocal meiotic recombination GO:0007131 9.5 RAD51 RAD51B RAD51C
10 response to gamma radiation GO:0010332 9.49 FANCD2 XRCC2
11 positive regulation of G2/M transition of mitotic cell cycle GO:0010971 9.48 RAD51B RAD51C
12 telomere maintenance via recombination GO:0000722 9.46 RAD51 RAD51C
13 protein K6-linked ubiquitination GO:0085020 9.43 BRCA1 UBE2T
14 strand invasion GO:0042148 9.4 RAD51 XRCC2
15 DNA repair GO:0006281 9.23 BRCA1 FANCD2 MAD2L2 RAD51 RAD51B RAD51C

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.72 BRCA1 RAD51 RAD51B RAD51C XRCC2
2 ATP binding GO:0005524 9.65 RAD51 RAD51B RAD51C UBE2T XRCC2
3 DNA polymerase binding GO:0070182 9.16 FANCD2 RAD51
4 four-way junction DNA binding GO:0000400 9.13 RAD51B RAD51C XRCC2
5 DNA-dependent ATPase activity GO:0008094 8.92 RAD51 RAD51B RAD51C XRCC2

Sources for Fanconi Anemia, Complementation Group U

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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