MCID: FNC056
MIFTS: 19

Fanconi Anemia, Complementation Group V

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

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:



External Ids:

OMIM 57 617243
Disease Ontology 12 DOID:0111080
MeSH 44 D005199

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, is also known as fancv. An important gene associated with Fanconi Anemia, Complementation Group V is MAD2L2 (Mitotic Arrest Deficient 2 Like 2). Affiliated tissues include bone and bone marrow, and related phenotypes are microcephaly and thrombocytopenia

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

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group V

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Face:
abnormal facial features

Hematology:
bone marrow failure
anemia
thrombocytopenia
neutropenia

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
renal tubulopathy

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


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 thrombocytopenia 32 HP:0001873
3 neutropenia 32 HP:0001875
4 anemia 32 HP:0001903
5 short stature 32 HP:0004322
6 bone marrow hypocellularity 32 HP:0005528
7 elevated alpha-fetoprotein 32 HP:0006254

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

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 rs1057517674Fanconi

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

GO Terms for Fanconi Anemia, Complementation Group V

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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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
Content
Loading form....