FANCU
MCID: FNC057
MIFTS: 42

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 57 72 29 6 39
Fancu 57 12 72
Fanconi Anemia Complementation Group U 12 15

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 617247
OMIM Phenotypic Series 57 PS227650
MeSH 44 D005199

Summaries for Fanconi Anemia, Complementation Group U

UniProtKB/Swiss-Prot : 72 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 DNA Damage. Affiliated tissues include bone marrow, bone and kidney, and related phenotypes are microcephaly and growth delay

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 35)
# Related Disease Score Top Affiliating Genes
1 maternal uniparental disomy 10.0 SLX4 FANCA
2 maternal uniparental disomy of chromosome 16 10.0 SLX4 FANCA
3 male infertility with azoospermia or oligozoospermia due to single gene mutation 10.0 XRCC2 FANCM
4 vacterl with hydrocephalus 10.0 FANCL FANCB
5 vacterl association, x-linked, with or without hydrocephalus 9.9 FANCL FANCB
6 vacterl association 9.8 FANCL FANCI FANCB
7 hereditary breast ovarian cancer syndrome 9.8 XRCC2 RAD51C FANCM
8 interstitial nephritis, karyomegalic 9.6 SLX4 FANCI FANCD2
9 pituitary stalk interruption syndrome 9.6 FANCD2 FANCA
10 fanconi anemia, complementation group l 9.6 UBE2T FANCL FANCI FANCD2
11 fanconi anemia, complementation group e 9.6 FANCE FANCD2 FANCA
12 xeroderma pigmentosum, complementation group f 9.5 SLX4 FANCM FANCD2
13 fanconi anemia, complementation group f 9.5 FANCE FANCD2 FANCA
14 dyskeratosis congenita 9.3 SLX4 FANCD2 FANCA
15 squamous cell carcinoma, head and neck 9.3 FANCL FANCE FANCD2 FANCA
16 fanconi anemia, complementation group i 9.2 FANCM FANCL FANCI FANCD2 FANCA
17 microcephaly 9.2 XRCC2 SLX4 RAD51C FANCI FANCE FANCA
18 fanconi anemia, complementation group b 9.1 FANCL FANCE FANCD2 FANCB FANCA
19 fanconi anemia, complementation group c 9.0 UBE2T FANCL FANCI FANCD2 FANCB FANCA
20 seckel syndrome 8.9 FANCM FANCL FANCI FANCE FANCD2 FANCA
21 xeroderma pigmentosum, variant type 8.8 SLX4 MAD2L2 FANCM FANCL FANCI FANCD2
22 deficiency anemia 8.8 FANCM FANCI FANCE FANCD2 FANCB FANCA
23 esophageal atresia 8.6 FANCM FANCL FANCI FANCE FANCD2 FANCB
24 fanconi anemia, complementation group d2 8.5 UBE2T FANCM FANCL FANCI FANCE FANCD2
25 fanconi anemia, complementation group t 8.3 UBE2T SLX4 FANCM FANCL FANCI FANCE
26 fanconi anemia, complementation group p 8.3 SLX4 RAD51C FANCM FANCL FANCI FANCE
27 fanconi anemia, complementation group j 8.3 SLX4 RAD51C FANCM FANCL FANCI FANCE
28 aplastic anemia 8.2 SLX4 RAD51C FANCM FANCL FANCI FANCE
29 fanconi anemia, complementation group q 8.1 UBE2T SLX4 RAD51C FANCM FANCL FANCI
30 fanconi anemia, complementation group o 8.1 UBE2T SLX4 RAD51C FANCM FANCL FANCI
31 fanconi anemia, complementation group n 8.1 UBE2T SLX4 RAD51C FANCM FANCL FANCI
32 fanconi anemia, complementation group d1 8.1 UBE2T SLX4 RAD51C FANCM FANCL FANCI
33 fanconi anemia, complementation group r 7.9 UBE2T SLX4 RFWD3 RAD51C FANCM FANCL
34 fanconi anemia, complementation group v 7.9 UBE2T SLX4 RFWD3 MAD2L2 FANCM FANCL
35 fanconi anemia, complementation group a 7.6 XRCC2 UBE2T SLX4 RFWD3 RAD51C MAD2L2

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 growth delay 31 HP:0001510
3 patent ductus arteriosus 31 HP:0001643
4 absent scaphoid 31 HP:0011835

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.83 FANCA FANCD2 UBE2T XRCC2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.83 FANCA FANCD2 FANCM UBE2T XRCC2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.83 FANCA FANCD2 UBE2T XRCC2 FANCE FANCI

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 FANCA FANCB FANCD2 FANCE FANCL FANCM
2 endocrine/exocrine gland MP:0005379 9.96 FANCA FANCB FANCD2 FANCE FANCL FANCM
3 growth/size/body region MP:0005378 9.81 FANCA FANCB FANCD2 FANCE FANCL MAD2L2
4 mortality/aging MP:0010768 9.65 FANCA FANCD2 FANCI FANCL FANCM MAD2L2
5 reproductive system MP:0005389 9.32 FANCA FANCB FANCD2 FANCE FANCL FANCM

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 Marrow, Bone, Kidney

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 57
27208205 2016
2
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. 57
22232082 2012
3
Xrcc2 is required for genetic stability, embryonic neurogenesis and viability in mice. 57
11118202 2000
4
Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis. 61
32488392 2020
5
FANCL gene mutations in premature ovarian insufficiency. 61
32048394 2020
6
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
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 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 XRCC2 NM_005431.2(XRCC2):c.350dup (p.Leu117fs) Duplication Likely pathogenic 420244 rs764640893 GRCh37: 7:152346219-152346220
GRCh38: 7:152649134-152649135
2 XRCC2 NM_005431.2(XRCC2):c.714G>C (p.Arg238Ser) SNV Uncertain significance 240163 rs534746330 GRCh37: 7:152345856-152345856
GRCh38: 7:152648771-152648771
3 XRCC2 NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln) SNV Uncertain significance 584727 rs142527605 GRCh37: 7:152346341-152346341
GRCh38: 7:152649256-152649256
4 XRCC2 NM_005431.2(XRCC2):c.596T>C (p.Met199Thr) SNV Uncertain significance 182996 rs149099078 GRCh37: 7:152345974-152345974
GRCh38: 7:152648889-152648889
5 XRCC2 NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) SNV Uncertain significance 127954 rs140214637 GRCh37: 7:152346287-152346287
GRCh38: 7:152649202-152649202
6 XRCC2 NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) SNV Uncertain significance 182997 rs56103026 GRCh37: 7:152345957-152345957
GRCh38: 7:152648872-152648872
7 XRCC2 NM_005431.2(XRCC2):c.97G>C (p.Ala33Pro) SNV Uncertain significance 409962 rs774296079 GRCh37: 7:152357810-152357810
GRCh38: 7:152660725-152660725
8 XRCC2 NM_005431.2(XRCC2):c.271C>T (p.Arg91Trp) SNV Uncertain significance 182994 rs730882043 GRCh37: 7:152346299-152346299
GRCh38: 7:152649214-152649214
9 XRCC2 NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser) SNV Uncertain significance 584722 rs771671971 GRCh37: 7:152345776-152345776
GRCh38: 7:152648691-152648691
10 XRCC2 NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu) SNV Uncertain significance 584723 rs946075316 GRCh37: 7:152345872-152345872
GRCh38: 7:152648787-152648787
11 XRCC2 NM_005431.2(XRCC2):c.374_377ACTT[1] (p.Leu126fs) Microsatellite Uncertain significance 420463 rs763401560 GRCh37: 7:152346189-152346192
GRCh38: 7:152649104-152649107
12 XRCC2 NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) SNV Uncertain significance 30063 rs143153871 GRCh37: 7:152345927-152345927
GRCh38: 7:152648842-152648842
13 XRCC2 NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile) SNV Uncertain significance 245958 rs569810249 GRCh37: 7:152346389-152346389
GRCh38: 7:152649304-152649304
14 XRCC2 NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln) SNV Uncertain significance 246108 rs762828701 GRCh37: 7:152345926-152345926
GRCh38: 7:152648841-152648841
15 XRCC2 NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) SNV Uncertain significance 127960 rs61762969 GRCh37: 7:152345950-152345950
GRCh38: 7:152648865-152648865
16 XRCC2 NM_005431.2(XRCC2):c.608C>T (p.Ser203Leu) SNV Uncertain significance 240162 rs143856570 GRCh37: 7:152345962-152345962
GRCh38: 7:152648877-152648877
17 XRCC2 NM_005431.2(XRCC2):c.40-16T>C SNV Likely benign 137929 rs41274991 GRCh37: 7:152357883-152357883
GRCh38: 7:152660798-152660798
18 XRCC2 NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) SNV Likely benign 127965 rs145085742 GRCh37: 7:152345762-152345762
GRCh38: 7:152648677-152648677
19 XRCC2 NM_005431.2(XRCC2):c.39+8C>G SNV Likely benign 240161 rs200363289 GRCh37: 7:152373118-152373118
GRCh38: 7:152676033-152676033

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
12.74 XRCC2 UBE2T SLX4 RAD51C MAD2L2 FANCM
2 12.09 UBE2T FANCD2 FANCB FANCA
3
Show member pathways
11.88 XRCC2 SLX4 RAD51C
4
Show member pathways
11.72 XRCC2 SLX4 RAD51C
5
Show member pathways
11.48 FANCL FANCE FANCD2 FANCA
6 11.29 UBE2T SLX4 RAD51C FANCM FANCL FANCI
7 11.1 FANCL FANCD2
8 10.95 UBE2T FANCI
9 10.92 FANCL FANCE FANCD2 FANCA

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 RFWD3 RAD51C MAD2L2
2 nucleoplasm GO:0005654 9.77 XRCC2 UBE2T SLX4 RFWD3 RAD51C MAD2L2
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 9.02 FANCM FANCL FANCE FANCB FANCA

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 9.85 UBE2T SLX4 RFWD3 FANCM FANCL FANCI
2 cellular response to DNA damage stimulus GO:0006974 9.77 XRCC2 UBE2T SLX4 RFWD3 RAD51C MAD2L2
3 double-strand break repair via homologous recombination GO:0000724 9.56 XRCC2 SLX4 RFWD3 RAD51C
4 replication fork processing GO:0031297 9.54 RFWD3 FANCM
5 DNA recombination GO:0006310 9.54 XRCC2 SLX4 RAD51C
6 protein monoubiquitination GO:0006513 9.52 UBE2T FANCL
7 regulation of DNA-binding transcription factor activity GO:0051090 9.51 FANCD2 FANCA
8 response to gamma radiation GO:0010332 9.49 XRCC2 FANCD2
9 gamete generation GO:0007276 9.48 FANCL FANCD2
10 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.46 MAD2L2 FANCB
11 DNA repair GO:0006281 9.44 XRCC2 UBE2T SLX4 RFWD3 RAD51C MAD2L2
12 resolution of meiotic recombination intermediates GO:0000712 9.43 SLX4 FANCM
13 regulation of regulatory T cell differentiation GO:0045589 9.4 FANCD2 FANCA
14 regulation of CD40 signaling pathway GO:2000348 9.32 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 ubiquitin-protein transferase activity GO:0004842 9.5 UBE2T RFWD3 FANCL
2 DNA-dependent ATPase activity GO:0008094 9.26 XRCC2 RAD51C
3 DNA polymerase binding GO:0070182 9.16 FANCI FANCD2
4 crossover junction endodeoxyribonuclease activity GO:0008821 8.96 SLX4 RAD51C
5 four-way junction DNA binding GO:0000400 8.8 XRCC2 RAD51C FANCM

Sources for Fanconi Anemia, Complementation Group U

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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