FANCU
MCID: FNC057
MIFTS: 43

Fanconi Anemia, Complementation Group U (FANCU)

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 U

MalaCards integrated aliases for Fanconi Anemia, Complementation Group U:

Name: Fanconi Anemia, Complementation Group U 56 73 29 6 39
Fancu 56 12 73
Fanconi Anemia Complementation Group U 12 15

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
fanconi anemia, complementation group u:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111085
OMIM 56 617247
OMIM Phenotypic Series 56 PS227650
MeSH 43 D005199

Summaries for Fanconi Anemia, Complementation Group U

UniProtKB/Swiss-Prot : 73 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 maternal uniparental disomy and maternal uniparental disomy of chromosome 16. 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 DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone, bone marrow and kidney, 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.

More information from OMIM: 617247 PS227650

Related Diseases for Fanconi Anemia, Complementation Group U

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 maternal uniparental disomy 10.1 SLX4 FANCA
2 maternal uniparental disomy of chromosome 16 10.1 SLX4 FANCA
3 esophageal atresia/tracheoesophageal fistula 9.9 FANCB FANCA
4 thrombophlebitis migrans 9.8 SLX4 FANCI FANCA
5 vacterl association 9.8 FANCL FANCI FANCB
6 interstitial nephritis, karyomegalic 9.7 SLX4 FANCI FANCD2
7 male infertility with azoospermia or oligozoospermia due to single gene mutation 9.6 XRCC2 FANCM
8 fanconi anemia, complementation group l 9.5 UBE2T FANCL FANCI FANCD2
9 fanconi anemia, complementation group d2 9.5 FANCI FANCD2 FANCA
10 sporadic breast cancer 9.5 RAD51C FANCF FANCD2
11 xeroderma pigmentosum, complementation group f 9.4 SLX4 FANCM FANCD2
12 fanconi anemia, complementation group i 9.3 FANCM FANCI FANCD2
13 fanconi anemia, complementation group f 9.1 FANCF FANCE FANCD2 FANCA
14 fanconi anemia, complementation group e 9.1 FANCF FANCE FANCD2 FANCA
15 fanconi anemia, complementation group c 8.9 FANCL FANCI FANCF FANCD2 FANCA
16 deficiency anemia 8.8 FANCF FANCE FANCD2 FANCB FANCA
17 squamous cell carcinoma, head and neck 8.6 FANCL FANCF FANCE FANCD2 FANCA
18 fanconi anemia, complementation group b 8.6 FANCL FANCF FANCE FANCD2 FANCB FANCA
19 seckel syndrome 8.6 FANCM FANCI FANCE FANCD2 FANCA
20 xeroderma pigmentosum, variant type 8.5 SLX4 MAD2L2 FANCM FANCI FANCD2 FANCA
21 aplastic anemia 8.5 FANCM FANCI FANCD2 FANCA
22 esophageal atresia 7.9 SLX4 FANCM FANCL FANCI FANCE FANCD2
23 fanconi anemia, complementation group v 7.4 UBE2T SLX4 MAD2L2 FANCM FANCL FANCI
24 fanconi anemia, complementation group t 7.3 UBE2T SLX4 FANCM FANCL FANCI FANCF
25 fanconi anemia, complementation group p 7.2 SLX4 RAD51C FANCM FANCL FANCI FANCF
26 fanconi anemia, complementation group o 7.2 SLX4 RAD51C FANCM FANCL FANCI FANCF
27 fanconi anemia, complementation group j 7.2 SLX4 RAD51C FANCM FANCL FANCI FANCF
28 congenital hypoplastic anemia 7.0 UBE2T SLX4 RAD51C FANCM FANCL FANCI
29 fanconi anemia, complementation group q 7.0 UBE2T SLX4 RAD51C FANCM FANCL FANCI
30 fanconi anemia, complementation group n 7.0 UBE2T SLX4 RAD51C FANCM FANCL FANCI
31 fanconi anemia, complementation group d1 7.0 UBE2T SLX4 RAD51C FANCM FANCL FANCI
32 fanconi anemia, complementation group r 6.8 UBE2T SLX4 RAD51C MAD2L2 FANCM FANCL
33 fanconi anemia, complementation group a 6.6 XRCC2 UBE2T SLX4 RAD51C MAD2L2 FANCM

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

Human phenotypes related to Fanconi Anemia, Complementation Group U:

31
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 patent ductus arteriosus 31 HP:0001643
3 growth delay 31 HP:0001510
4 absent scaphoid 31 HP:0011835

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group U 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 9.7 FANCA FANCD2 FANCE FANCF FANCI FANCL
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.62 FANCA FANCD2 FANCM UBE2T XRCC2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 FANCA FANCD2 FANCM UBE2T XRCC2

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 FANCA FANCB FANCD2 FANCE FANCF FANCL
2 endocrine/exocrine gland MP:0005379 10.02 FANCA FANCB FANCD2 FANCE FANCF FANCL
3 growth/size/body region MP:0005378 9.96 FANCA FANCB FANCD2 FANCE FANCF FANCL
4 mortality/aging MP:0010768 9.85 FANCA FANCD2 FANCF FANCI FANCL FANCM
5 neoplasm MP:0002006 9.35 FANCA FANCD2 FANCF FANCM XRCC2
6 reproductive system MP:0005389 9.32 FANCA FANCB FANCD2 FANCE FANCF FANCL

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:

40
Bone, Bone Marrow, Kidney, Breast, Skin

Publications for Fanconi Anemia, Complementation Group U

Articles related to Fanconi Anemia, Complementation Group U:

# Title Authors PMID Year
1
Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene. 61 56 6
27208205 2016
2
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. 56 6
22232082 2012
3
Xrcc2 is required for genetic stability, embryonic neurogenesis and viability in mice. 56 6
11118202 2000
4
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
5
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
6
Fanconi Anemia 6
20301575 2002
7
XRCC2 (X-ray repair cross complementing 2). 61
31275435 2019
8
XRCC2 Regulates Replication Fork Progression during dNTP Alterations. 61
30566856 2018
9
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. 61
27760710 2017

Variations for Fanconi Anemia, Complementation Group U

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

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XRCC2 NM_005431.2(XRCC2):c.283A>G (p.Ile95Val)SNV Conflicting interpretations of pathogenicity 127954 rs140214637 7:152346287-152346287 7:152649202-152649202
2 XRCC2 NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)SNV Conflicting interpretations of pathogenicity 127960 rs61762969 7:152345950-152345950 7:152648865-152648865
3 XRCC2 NM_005431.2(XRCC2):c.374_377ACTT[1] (p.Leu126fs)short repeat Conflicting interpretations of pathogenicity 420463 rs763401560 7:152346189-152346192 7:152649104-152649107
4 XRCC2 NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser)SNV Uncertain significance 584722 rs771671971 7:152345776-152345776 7:152648691-152648691
5 XRCC2 NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu)SNV Uncertain significance 584723 rs946075316 7:152345872-152345872 7:152648787-152648787
6 XRCC2 NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln)SNV Uncertain significance 584727 rs142527605 7:152346341-152346341 7:152649256-152649256
7 XRCC2 NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln)SNV Uncertain significance 246108 rs762828701 7:152345926-152345926 7:152648841-152648841
8 XRCC2 NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile)SNV Uncertain significance 245958 rs569810249 7:152346389-152346389 7:152649304-152649304
9 XRCC2 NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala)SNV Uncertain significance 182997 rs56103026 7:152345957-152345957 7:152648872-152648872
10 XRCC2 NM_005431.2(XRCC2):c.596T>C (p.Met199Thr)SNV Uncertain significance 182996 rs149099078 7:152345974-152345974 7:152648889-152648889
11 XRCC2 NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)SNV Uncertain significance 30063 rs143153871 7:152345927-152345927 7:152648842-152648842
12 XRCC2 NM_005431.2(XRCC2):c.714G>C (p.Arg238Ser)SNV Uncertain significance 240163 rs534746330 7:152345856-152345856 7:152648771-152648771
13 XRCC2 NM_005431.2(XRCC2):c.608C>T (p.Ser203Leu)SNV Uncertain significance 240162 rs143856570 7:152345962-152345962 7:152648877-152648877
14 XRCC2 NM_005431.2(XRCC2):c.39+8C>GSNV Likely benign 240161 rs200363289 7:152373118-152373118 7:152676033-152676033
15 XRCC2 NM_005431.2(XRCC2):c.808T>G (p.Phe270Val)SNV Benign/Likely benign 127965 rs145085742 7:152345762-152345762 7:152648677-152648677
16 XRCC2 NM_005431.2(XRCC2):c.40-16T>CSNV Benign/Likely benign 137929 rs41274991 7:152357883-152357883 7:152660798-152660798

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 XRCC2 UBE2T SLX4 RAD51C MAD2L2 FANCM
2
Show member pathways
12.31 FANCF FANCE FANCD2 FANCA
3 12.09 UBE2T FANCD2 FANCB FANCA
4
Show member pathways
11.91 XRCC2 SLX4 RAD51C
5
Show member pathways
11.72 XRCC2 SLX4 RAD51C
6 11.66 UBE2T SLX4 RAD51C FANCM FANCL FANCI
7
Show member pathways
11.57 FANCL FANCF FANCE FANCD2 FANCA
8 11.12 FANCL FANCD2
9 11.02 FANCL FANCF FANCE FANCD2 FANCA
10 10.98 UBE2T FANCI

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 XRCC2 UBE2T SLX4 RAD51C MAD2L2 FANCM
2 nucleoplasm GO:0005654 9.77 XRCC2 UBE2T SLX4 RAD51C MAD2L2 FANCM
3 replication fork GO:0005657 9.37 XRCC2 RAD51C
4 Holliday junction resolvase complex GO:0048476 9.32 SLX4 RAD51C
5 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 9.26 XRCC2 RAD51C
6 Fanconi anaemia nuclear complex GO:0043240 9.1 FANCM FANCL FANCF FANCE FANCB FANCA

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 9.85 UBE2T SLX4 FANCM FANCL FANCI FANCF
2 cellular response to DNA damage stimulus GO:0006974 9.77 XRCC2 UBE2T SLX4 RAD51C MAD2L2 FANCM
3 DNA recombination GO:0006310 9.54 XRCC2 SLX4 RAD51C
4 protein monoubiquitination GO:0006513 9.52 UBE2T FANCL
5 regulation of DNA-binding transcription factor activity GO:0051090 9.51 FANCD2 FANCA
6 double-strand break repair via homologous recombination GO:0000724 9.5 XRCC2 SLX4 RAD51C
7 response to gamma radiation GO:0010332 9.49 XRCC2 FANCD2
8 gamete generation GO:0007276 9.48 FANCL FANCD2
9 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.46 MAD2L2 FANCB
10 DNA repair GO:0006281 9.44 XRCC2 UBE2T SLX4 RAD51C MAD2L2 FANCM
11 resolution of meiotic recombination intermediates GO:0000712 9.43 SLX4 FANCM
12 regulation of regulatory T cell differentiation GO:0045589 9.4 FANCD2 FANCA
13 regulation of CD40 signaling pathway GO:2000348 9.26 FANCD2 FANCA

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.03 XRCC2 UBE2T SLX4 RAD51C MAD2L2 FANCM
2 DNA-dependent ATPase activity GO:0008094 9.32 XRCC2 RAD51C
3 DNA polymerase binding GO:0070182 9.16 FANCI FANCD2
4 four-way junction DNA binding GO:0000400 8.96 XRCC2 RAD51C
5 crossover junction endodeoxyribonuclease activity GO:0008821 8.62 SLX4 RAD51C

Sources for Fanconi Anemia, Complementation Group U

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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