FANCV
MCID: FNC056
MIFTS: 37

Fanconi Anemia, Complementation Group V (FANCV)

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 V

MalaCards integrated aliases for Fanconi Anemia, Complementation Group V:

Name: Fanconi Anemia, Complementation Group V 57 72 29 6 39
Fancv 57 12 72
Fanconi Anemia Complementation Group V 12 15

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111080
OMIM® 57 617243
OMIM Phenotypic Series 57 PS227650
MeSH 44 D005199

Summaries for Fanconi Anemia, Complementation Group V

UniProtKB/Swiss-Prot : 72 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 maternal uniparental disomy and maternal uniparental disomy of chromosome 16. 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 DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone marrow and bone, 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.

More information from OMIM: 617243 PS227650

Related Diseases for Fanconi Anemia, Complementation Group V

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 V 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 interstitial nephritis, karyomegalic 9.9 SLX4 FANCI FANCD2
4 vacterl with hydrocephalus 9.9 FANCL FANCB
5 fanconi anemia, complementation group l 9.9 UBE2T FANCL FANCI FANCD2
6 vacterl association 9.9 FANCL FANCI FANCB
7 vacterl association, x-linked, with or without hydrocephalus 9.9 FANCL FANCB
8 peliosis hepatis 9.8 FANCG FANCA
9 pituitary stalk interruption syndrome 9.7 FANCG FANCD2 FANCA
10 dyskeratosis congenita 9.6 SLX4 FANCD2 FANCA
11 fanconi anemia, complementation group e 9.6 FANCG FANCE FANCD2 FANCA
12 fanconi anemia, complementation group f 9.6 FANCG FANCE FANCD2 FANCA
13 xeroderma pigmentosum, complementation group f 9.5 SLX4 FANCM FANCD2 FAAP24
14 fanconi anemia, complementation group c 9.4 UBE2T FANCL FANCI FANCD2 FANCB FANCA
15 squamous cell carcinoma, head and neck 9.3 FANCL FANCG FANCE FANCD2 FANCA
16 fanconi anemia, complementation group b 9.1 FANCL FANCG FANCE FANCD2 FANCB FANCA
17 seckel syndrome 8.9 FANCM FANCL FANCI FANCE FANCD2 FANCA
18 fanconi anemia, complementation group i 8.9 FANCM FANCL FANCI FANCD2 FANCA FAAP24
19 deficiency anemia 8.9 FANCM FANCI FANCG FANCE FANCD2 FANCB
20 esophageal atresia 8.8 FANCM FANCL FANCI FANCG FANCE FANCD2
21 fanconi anemia, complementation group u 8.5 UBE2T SLX4 RFWD3 MAD2L2 FANCM FANCL
22 xeroderma pigmentosum, variant type 8.5 SLX4 MAD2L2 FANCM FANCL FANCI FANCG
23 fanconi anemia, complementation group q 8.5 UBE2T SLX4 FANCM FANCL FANCI FANCG
24 fanconi anemia, complementation group r 8.3 UBE2T SLX4 RFWD3 FANCM FANCL FANCI
25 aplastic anemia 8.1 SLX4 FANCM FANCL FANCI FANCG FANCE
26 fanconi anemia, complementation group d2 7.9 UBE2T FANCM FANCL FANCI FANCG FANCE
27 fanconi anemia, complementation group p 7.9 SLX4 FANCM FANCL FANCI FANCG FANCE
28 fanconi anemia, complementation group j 7.9 SLX4 FANCM FANCL FANCI FANCG FANCE
29 fanconi anemia, complementation group t 7.7 UBE2T SLX4 FANCM FANCL FANCI FANCG
30 fanconi anemia, complementation group o 7.7 UBE2T SLX4 FANCM FANCL FANCI FANCG
31 fanconi anemia, complementation group n 7.7 UBE2T SLX4 FANCM FANCL FANCI FANCG
32 fanconi anemia, complementation group d1 7.7 UBE2T SLX4 FANCM FANCL FANCI FANCG
33 fanconi anemia, complementation group a 7.4 UBE2T SLX4 RFWD3 MAD2L2 FANCM FANCL

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

Human phenotypes related to Fanconi Anemia, Complementation Group V:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 short stature 31 HP:0004322
3 anemia 31 HP:0001903
4 thrombocytopenia 31 HP:0001873
5 neutropenia 31 HP:0001875
6 elevated alpha-fetoprotein 31 HP:0006254
7 bone marrow hypocellularity 31 HP:0005528

Symptoms via clinical synopsis from OMIM®:

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

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group V 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 9.55 FANCA FANCD2 UBE2T
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.55 FANCA FANCD2 FANCM UBE2T
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.55 FAAP24 FANCA FANCD2 FANCE FANCG FANCI

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 FANCA FANCB FANCD2 FANCE FANCG FANCL
2 endocrine/exocrine gland MP:0005379 9.65 FANCA FANCB FANCD2 FANCE FANCG FANCL
3 reproductive system MP:0005389 9.32 FANCA FANCB FANCD2 FANCE FANCG FANCL

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:

40
Bone Marrow, Bone

Publications for Fanconi Anemia, Complementation Group V

Articles related to Fanconi Anemia, Complementation Group V:

# Title Authors PMID Year
1
Biallelic inactivation of REV7 is associated with Fanconi anemia. 61 57 6
27500492 2016
2
Rev7 loss alters cisplatin response and increases drug efficacy in chemotherapy-resistant lung cancer. 61
33144509 2020
3
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 61
31044434 2019
4
Rev7 and 53BP1/Crb2 prevent RecQ helicase-dependent hyper-resection of DNA double-strand breaks. 61
29697047 2018
5
The identification of FANCD2 DNA binding domains reveals nuclear localization sequences. 61
28666371 2017
6
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. 61
27760710 2017

Variations for Fanconi Anemia, Complementation Group V

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAD2L2 NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu) SNV Pathogenic 372196 rs1057517674 GRCh37: 1:11736983-11736983
GRCh38: 1:11676926-11676926

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

72
# Symbol AA change Variation ID SNP ID
1 MAD2L2 p.Val85Glu VAR_077981 rs105751767

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 UBE2T SLX4 MAD2L2 FANCM FANCL FANCI
2
Show member pathways
12.28 FANCG FANCE FANCD2 FANCA
3 12.09 UBE2T FANCD2 FANCB FANCA
4 11.7 UBE2T SLX4 FANCM FANCL FANCI FANCG
5
Show member pathways
11.57 FANCL FANCG FANCE FANCD2 FANCA
6 11.08 FANCL FANCD2
7 11.02 FANCL FANCG FANCE FANCD2 FANCA
8 10.92 UBE2T FANCI

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 10 UBE2T SLX4 RFWD3 MAD2L2 FANCM FANCL
2 nucleoplasm GO:0005654 9.8 UBE2T SLX4 RFWD3 MAD2L2 FANCM FANCL
3 Fanconi anaemia nuclear complex GO:0043240 9.23 FANCM FANCL FANCG FANCE FANCB FANCA

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 9.97 UBE2T SLX4 RFWD3 FANCM FANCL FANCI
2 cellular response to DNA damage stimulus GO:0006974 9.8 UBE2T SLX4 RFWD3 MAD2L2 FANCM FANCL
3 replication fork processing GO:0031297 9.49 RFWD3 FANCM
4 protein monoubiquitination GO:0006513 9.48 UBE2T FANCL
5 DNA repair GO:0006281 9.47 UBE2T SLX4 RFWD3 MAD2L2 FANCM FANCL
6 regulation of DNA-binding transcription factor activity GO:0051090 9.46 FANCD2 FANCA
7 gamete generation GO:0007276 9.43 FANCL FANCD2
8 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.4 MAD2L2 FANCB
9 resolution of meiotic recombination intermediates GO:0000712 9.37 SLX4 FANCM
10 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCD2 FANCA
11 regulation of CD40 signaling pathway GO:2000348 9.26 FANCD2 FANCA

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-protein transferase activity GO:0004842 9.13 UBE2T RFWD3 FANCL
2 DNA polymerase binding GO:0070182 8.62 FANCI FANCD2

Sources for Fanconi Anemia, Complementation Group V

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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