FANCV
MCID: FNC056
MIFTS: 42

Fanconi Anemia, Complementation Group V (FANCV)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group V

MalaCards integrated aliases for Fanconi Anemia, Complementation Group V:

Name: Fanconi Anemia, Complementation Group V 57 75 29 6 40
Fancv 57 12 75
Fanconi Anemia Complementation Group V 12 15

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Fanconi Anemia, Complementation Group V

UniProtKB/Swiss-Prot : 75 Fanconi anemia, complementation group V: 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 V, also known as fancv, is related to fanconi anemia, complementation group l and riddle syndrome. An important gene associated with Fanconi Anemia, Complementation Group V is MAD2L2 (Mitotic Arrest Deficient 2 Like 2), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of TP53 Activity. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are microcephaly and short stature

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous mutation in the MAD2L2 gene on chromosome 1p36.

Description from OMIM: 617243

Related Diseases for Fanconi Anemia, Complementation Group V

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group l 10.0 FANCD2 UBE2T
2 riddle syndrome 10.0 BRCA1 TP53BP1
3 fanconi anemia, complementation group d1 10.0 FANCA FANCD2
4 fanconi anemia, complementation group b 9.9 FANCA FANCD2
5 fanconi anemia, complementation group j 9.8 BRCA1 FANCA FANCD2
6 fanconi anemia, complementation group e 9.8 BRCA1 FANCA FANCD2
7 fanconi anemia, complementation group f 9.8 FANCA FANCD2
8 lynch syndrome 9.8 BRCA1 EXO1 XRCC2
9 bilateral breast cancer 9.8 BRCA1 RAD51
10 fanconi anemia, complementation group d2 9.7 FANCA FANCD2 RAD51
11 congenital hypoplastic anemia 9.7 FANCA FANCD2 RAD51
12 sporadic breast cancer 9.7 BRCA1 FANCD2 RAD51
13 hereditary breast ovarian cancer syndrome 9.6 BRCA1 RAD51 XRCC2
14 fanconi anemia, complementation group u 9.3 BRCA1 FANCD2 MAD2L2 RAD51 UBE2T XRCC2
15 fanconi anemia, complementation group q 9.2 BRCA1 FANCA FANCD2 RAD51 UBE2T XRCC2
16 fanconi anemia, complementation group r 9.1 BRCA1 DNA2 FANCD2 MAD2L2 RAD51 UBE2T
17 fanconi anemia, complementation group t 9.1 BRCA1 FANCA FANCD2 MAD2L2 RAD51 UBE2T
18 fanconi anemia, complementation group a 8.9 BRCA1 DNA2 FANCA FANCD2 MAD2L2 RAD51

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



Diseases related to Fanconi Anemia, Complementation Group V

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group V

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Hematology:
anemia
thrombocytopenia
neutropenia
bone marrow failure

Laboratory Abnormalities:
chromosome instability
increased serum alpha-fetoprotein
increased chromosomal breakage in response to dna crosslinking agents

Growth Height:
short stature

Genitourinary Kidneys:
renal tubulopathy

Head And Neck Face:
abnormal facial features


Clinical features from OMIM:

617243

Human phenotypes related to Fanconi Anemia, Complementation Group V:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 short stature 32 HP:0004322
3 anemia 32 HP:0001903
4 bone marrow hypocellularity 32 HP:0005528
5 thrombocytopenia 32 HP:0001873
6 neutropenia 32 HP:0001875
7 elevated alpha-fetoprotein 32 HP:0006254

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

26 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.47 BRCA1 RAD51 XRCC2
2 Decreased homologous recombination repair frequency GR00151-A-2 10.47 BRCA1 RAD51 XRCC2
3 Decreased homologous recombination repair frequency GR00236-A-1 10.47 BRCA1 FANCA RAD51
4 Decreased homologous recombination repair frequency GR00236-A-2 10.47 BRCA1 FANCA RAD51
5 Decreased homologous recombination repair frequency GR00236-A-3 10.47 BRCA1 FANCA RAD51
6 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.39 FANCD2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.39 FANCD2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.39 FANCD2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.39 FANCD2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.39 EXO1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.39 EXO1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.39 DNA2 EXO1 FANCD2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.39 FANCD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.39 DNA2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.39 FANCD2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.39 DNA2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.39 FANCD2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.39 FANCD2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.39 DNA2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.39 FANCD2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.39 EXO1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.39 EXO1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.39 EXO1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.39 DNA2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.39 FANCD2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.39 FANCD2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.39 DNA2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.39 EXO1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.39 DNA2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.39 FANCD2
31 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.85 BRCA1 DNA2 EXO1 FANCA FANCD2 MAD2L2
32 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.78 BRCA1 EXO1 FANCA FANCD2 TP53BP1 UBE2T
33 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 BRCA1 EXO1 FANCA FANCD2 TP53BP1 UBE2T
34 Decreased viability with cisplatin GR00101-A-4 9.5 BRCA1 MAD2L2 RAD51
35 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 RAD51

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 BRCA1 CRB2 DNA2 EXO1 FANCA FANCD2
2 growth/size/body region MP:0005378 9.92 BRCA1 CRB2 FANCA FANCD2 MAD2L2 RAD51
3 embryo MP:0005380 9.88 BRCA1 CRB2 FANCA MAD2L2 RAD51 XRCC2
4 homeostasis/metabolism MP:0005376 9.86 BRCA1 CRB2 EXO1 FANCA FANCD2 MAD2L2
5 endocrine/exocrine gland MP:0005379 9.85 BRCA1 EXO1 FANCA FANCD2 MAD2L2 TP53BP1
6 mortality/aging MP:0010768 9.85 BRCA1 CRB2 DNA2 EXO1 FANCA FANCD2
7 neoplasm MP:0002006 9.5 BRCA1 DNA2 EXO1 FANCA FANCD2 TP53BP1
8 reproductive system MP:0005389 9.1 BRCA1 EXO1 FANCA FANCD2 MAD2L2 TP53BP1

Drugs & Therapeutics for Fanconi Anemia, Complementation Group V

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

Genetic Tests for Fanconi Anemia, Complementation Group V

Genetic tests related to Fanconi Anemia, Complementation Group V:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group V 29 MAD2L2

Anatomical Context for Fanconi Anemia, Complementation Group V

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

41
Bone, Bone Marrow, Skin

Publications for Fanconi Anemia, Complementation Group V

Variations for Fanconi Anemia, Complementation Group V

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

75
# Symbol AA change Variation ID SNP ID
1 MAD2L2 p.Val85Glu VAR_077981 rs105751767

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAD2L2 NM_006341.3(MAD2L2): c.254T> A (p.Val85Glu) single nucleotide variant Pathogenic rs1057517674 GRCh38 Chromosome 1, 11676926: 11676926
2 MAD2L2 NM_006341.3(MAD2L2): c.254T> A (p.Val85Glu) single nucleotide variant Pathogenic rs1057517674 GRCh37 Chromosome 1, 11736983: 11736983

Expression for Fanconi Anemia, Complementation Group V

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

Pathways for Fanconi Anemia, Complementation Group V

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 BRCA1 DNA2 EXO1 RAD51 TP53BP1
2
Show member pathways
12.66 BRCA1 DNA2 EXO1 FANCD2
3
Show member pathways
12.59 BRCA1 FANCD2 RAD51 TP53BP1
4
Show member pathways
12.4 BRCA1 FANCA FANCD2 RAD51
5
Show member pathways
12.35 BRCA1 DNA2 EXO1 TP53BP1
6
Show member pathways
12.33 BRCA1 DNA2 EXO1 FANCA FANCD2 MAD2L2
7 12.21 BRCA1 FANCA FANCD2 RAD51 TP53BP1 UBE2T
8
Show member pathways
12.07 BRCA1 FANCD2 RAD51
9
Show member pathways
12.06 BRCA1 DNA2 EXO1 RAD51 XRCC2
10
Show member pathways
11.9 BRCA1 DNA2 EXO1 RAD51 XRCC2
11
Show member pathways
11.67 BRCA1 FANCD2 RAD51 TP53BP1
12
Show member pathways
11.62 BRCA1 FANCA FANCD2 RAD51
13 11.36 BRCA1 FANCD2 RAD51 TP53BP1
14 11.33 BRCA1 FANCA FANCD2 RAD51 UBE2T
15 11.19 BRCA1 FANCD2
16 10.92 BRCA1 FANCA FANCD2 RAD51

GO Terms for Fanconi Anemia, Complementation Group V

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.96 BRCA1 DNA2 EXO1 FANCA FANCD2 MAD2L2
2 nuclear body GO:0016604 9.63 EXO1 FANCD2 TP53BP1
3 nuclear chromosome, telomeric region GO:0000784 9.5 DNA2 RAD51 TP53BP1
4 condensed nuclear chromosome GO:0000794 9.43 BRCA1 RAD51
5 replication fork GO:0005657 9.4 TP53BP1 XRCC2
6 lateral element GO:0000800 9.37 BRCA1 RAD51
7 site of double-strand break GO:0035861 9.33 MAD2L2 RAD51 TP53BP1
8 nucleoplasm GO:0005654 9.32 BRCA1 DNA2 EXO1 FANCA FANCD2 MAD2L2
9 condensed chromosome GO:0000793 9.13 BRCA1 FANCD2 RAD51

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.72 BRCA1 DNA2 EXO1
2 meiotic cell cycle GO:0051321 9.67 EXO1 RAD51 XRCC2
3 cellular response to DNA damage stimulus GO:0006974 9.65 BRCA1 DNA2 EXO1 FANCA FANCD2 MAD2L2
4 double-strand break repair via homologous recombination GO:0000724 9.61 BRCA1 RAD51 XRCC2
5 somitogenesis GO:0001756 9.59 CRB2 XRCC2
6 centrosome cycle GO:0007098 9.58 BRCA1 XRCC2
7 negative regulation of G0 to G1 transition GO:0070317 9.58 BRCA1 RAD51
8 response to gamma radiation GO:0010332 9.57 FANCD2 XRCC2
9 regulation of DNA-binding transcription factor activity GO:0051090 9.56 FANCA FANCD2
10 DNA recombination GO:0006310 9.56 BRCA1 EXO1 RAD51 XRCC2
11 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.54 MAD2L2 TP53BP1
12 regulation of regulatory T cell differentiation GO:0045589 9.52 FANCA FANCD2
13 DNA double-strand break processing GO:0000729 9.51 BRCA1 DNA2
14 positive regulation of isotype switching GO:0045830 9.48 MAD2L2 TP53BP1
15 t-circle formation GO:0090656 9.46 DNA2 EXO1
16 interstrand cross-link repair GO:0036297 9.46 FANCA FANCD2 RAD51 UBE2T
17 protein K6-linked ubiquitination GO:0085020 9.4 BRCA1 UBE2T
18 strand invasion GO:0042148 9.37 RAD51 XRCC2
19 regulation of CD40 signaling pathway GO:2000348 9.32 FANCA FANCD2
20 DNA repair GO:0006281 9.32 BRCA1 DNA2 EXO1 FANCA FANCD2 MAD2L2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.8 BRCA1 DNA2 EXO1 RAD51 TP53BP1 XRCC2
2 RNA polymerase II activating transcription factor binding GO:0001102 9.37 MAD2L2 TP53BP1
3 DNA-dependent ATPase activity GO:0008094 9.26 RAD51 XRCC2
4 DNA polymerase binding GO:0070182 9.16 FANCD2 RAD51
5 single-stranded DNA-dependent ATPase activity GO:0043142 8.96 DNA2 RAD51
6 5'-flap endonuclease activity GO:0017108 8.62 DNA2 EXO1

Sources for Fanconi Anemia, Complementation Group V

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
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40 LOVD
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44 MeSH
45 MESH via Orphanet
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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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