FANCV
MCID: FNC056
MIFTS: 39

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 56 73 29 6 39
Fancv 56 12 73
Fanconi Anemia Complementation Group V 12 15

Characteristics:

OMIM:

56
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 56 617243
OMIM Phenotypic Series 56 PS227650
MeSH 43 D005199

Summaries for Fanconi Anemia, Complementation Group V

UniProtKB/Swiss-Prot : 73 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 DNA Damage. Affiliated tissues include bone, bone marrow and b cells, and related phenotypes are short stature and microcephaly

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 31)
# 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 thrombophlebitis migrans 10.0 SLX4 FANCI FANCA
4 esophageal atresia/tracheoesophageal fistula 9.9 FANCB FANCA
5 vacterl association 9.9 FANCL FANCI FANCB
6 fanconi anemia, complementation group i 9.8 FANCM FANCI FANCD2
7 fanconi anemia, complementation group f 9.8 FANCE FANCD2 FANCA
8 fanconi anemia, complementation group e 9.8 FANCE FANCD2 FANCA
9 fanconi anemia, complementation group l 9.7 UBE2T FANCL FANCI FANCD2
10 fanconi anemia, complementation group d2 9.7 FANCI FANCD2 FANCA
11 fanconi anemia, complementation group c 9.6 FANCL FANCI FANCD2 FANCA
12 xeroderma pigmentosum, complementation group f 9.5 SLX4 FANCM FANCD2 FAAP24
13 fanconi anemia, complementation group b 9.4 FANCL FANCE FANCD2 FANCB FANCA
14 interstitial nephritis, karyomegalic 9.3 SLX4 FANCI FANCD2 FAAP20
15 aplastic anemia 9.3 FANCM FANCI FANCD2 FANCA
16 squamous cell carcinoma, head and neck 9.1 FANCL FANCE FANCD2 FANCA
17 deficiency anemia 9.0 FANCE FANCD2 FANCB FANCA BHLHE40
18 seckel syndrome 9.0 FANCM FANCI FANCE FANCD2 FANCA FAAP24
19 xeroderma pigmentosum, variant type 8.8 SLX4 MAD2L2 FANCM FANCI FANCD2 FANCA
20 fanconi anemia, complementation group u 8.3 UBE2T SLX4 MAD2L2 FANCM FANCL FANCI
21 fanconi anemia, complementation group r 8.3 UBE2T SLX4 MAD2L2 FANCM FANCL FANCI
22 fanconi anemia, complementation group q 8.1 UBE2T SLX4 FANCM FANCL FANCI FANCE
23 esophageal atresia 8.1 SLX4 FANCM FANCL FANCI FANCE FANCD2
24 fanconi anemia, complementation group p 7.9 SLX4 FANCM FANCL FANCI FANCE FANCD2
25 fanconi anemia, complementation group j 7.9 SLX4 FANCM FANCL FANCI FANCE FANCD2
26 fanconi anemia, complementation group o 7.4 SLX4 FANCM FANCL FANCI FANCE FANCD2
27 fanconi anemia, complementation group n 7.2 UBE2T SLX4 FANCM FANCL FANCI FANCE
28 fanconi anemia, complementation group d1 7.2 UBE2T SLX4 FANCM FANCL FANCI FANCE
29 fanconi anemia, complementation group t 7.1 UBE2T SLX4 FANCM FANCL FANCI FANCE
30 congenital hypoplastic anemia 6.6 UBE2T SLX4 FANCM FANCL FANCI FANCE
31 fanconi anemia, complementation group a 6.4 UBE2T SLX4 MAD2L2 FANCM FANCL FANCI

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 short stature 31 HP:0004322
2 microcephaly 31 HP:0000252
3 anemia 31 HP:0001903
4 bone marrow hypocellularity 31 HP:0005528
5 thrombocytopenia 31 HP:0001873
6 neutropenia 31 HP:0001875
7 elevated alpha-fetoprotein 31 HP:0006254

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Hematology:
anemia
thrombocytopenia
neutropenia
bone marrow failure

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

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
renal tubulopathy

Head And Neck Face:
abnormal facial features

Clinical features from OMIM:

617243

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 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.32 FAAP100 FAAP24 FANCA FANCD2 FANCE FANCI

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 FAAP20 FANCA FANCB FANCD2 FANCE FANCL
2 endocrine/exocrine gland MP:0005379 9.65 BHLHE40 FAAP20 FANCA FANCB FANCD2 FANCE
3 reproductive system MP:0005389 9.28 FAAP20 FANCA FANCB FANCD2 FANCE FANCL

Drugs & Therapeutics for Fanconi Anemia, Complementation Group V

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag

Search 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, Bone Marrow, B Cells, Skin

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 56 6
27500492 2016
2
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
3
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
4
Fanconi Anemia 6
20301575 2002
5
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 61
31044434 2019
6
Rev7 and 53BP1/Crb2 prevent RecQ helicase-dependent hyper-resection of DNA double-strand breaks. 61
29697047 2018
7
The identification of FANCD2 DNA binding domains reveals nuclear localization sequences. 61
28666371 2017
8
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 GRCh37 Pos GRCh38 Pos
1 MAD2L2 NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu)SNV Pathogenic 372196 rs1057517674 1:11736983-11736983 1:11676926-11676926

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

73
# 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

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 MAD2L2 FANCM FANCL FANCI
2 nucleoplasm GO:0005654 9.77 UBE2T SLX4 MAD2L2 FANCM FANCL FANCI
3 nuclear body GO:0016604 9.56 FANCL FANCD2 FAAP20 BHLHE40
4 Fanconi anaemia nuclear complex GO:0043240 9.23 FANCM FANCL FANCE FANCB FANCA FAAP24

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

# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 9.93 UBE2T SLX4 FANCM FANCL FANCI FANCE
2 cellular response to DNA damage stimulus GO:0006974 9.77 UBE2T SLX4 MAD2L2 FANCM FANCL FANCI
3 protein monoubiquitination GO:0006513 9.48 UBE2T FANCL
4 regulation of DNA-binding transcription factor activity GO:0051090 9.46 FANCD2 FANCA
5 DNA repair GO:0006281 9.44 UBE2T SLX4 MAD2L2 FANCM FANCL FANCI
6 gamete generation GO:0007276 9.43 FANCL FANCD2
7 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.4 MAD2L2 FANCB
8 resolution of meiotic recombination intermediates GO:0000712 9.37 SLX4 FANCM
9 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCD2 FANCA
10 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 protein binding GO:0005515 9.77 UBE2T SLX4 MAD2L2 FANCM FANCL FANCI
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
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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