MCID: FNC030
MIFTS: 23

Fanconi Anemia, Complementation Group G

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group G

MalaCards integrated aliases for Fanconi Anemia, Complementation Group G:

Name: Fanconi Anemia, Complementation Group G 57 29 13 6 40
Fanconi Anemia Complementation Group G 12 75 73
Fancg 57 12 75

Classifications:



Summaries for Fanconi Anemia, Complementation Group G

OMIM : 57 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (614082)

MalaCards based summary : Fanconi Anemia, Complementation Group G, also known as fanconi anemia complementation group g, is related to fanconi anemia, complementation group a and fanconi anemia, complementation group b. An important gene associated with Fanconi Anemia, Complementation Group G is FANCG (FA Complementation Group G). Affiliated tissues include bone and bone marrow, and related phenotypes are microcephaly and microphthalmia

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13.

UniProtKB/Swiss-Prot : 75 Fanconi anemia complementation group G: 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.

Related Diseases for Fanconi Anemia, Complementation Group G

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



Diseases related to Fanconi Anemia, Complementation Group G

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group G

Clinical features from OMIM:

614082

Human phenotypes related to Fanconi Anemia, Complementation Group G:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 very rare (1%) HP:0000252
2 microphthalmia 32 very rare (1%) HP:0000568
3 abnormality of the thumb 32 HP:0001172
4 growth delay 32 very rare (1%) HP:0001510
5 thrombocytopenia 32 HP:0001873
6 neutropenia 32 HP:0001875
7 anemia 32 HP:0001903
8 leukemia 32 HP:0001909
9 myelodysplasia 32 HP:0002863
10 abnormality of chromosome stability 32 HP:0003220
11 multiple cafe-au-lait spots 32 HP:0007565

Drugs & Therapeutics for Fanconi Anemia, Complementation Group G

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

Genetic Tests for Fanconi Anemia, Complementation Group G

Genetic tests related to Fanconi Anemia, Complementation Group G:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group G 29 FANCG

Anatomical Context for Fanconi Anemia, Complementation Group G

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

41
Bone, Bone Marrow

Publications for Fanconi Anemia, Complementation Group G

Variations for Fanconi Anemia, Complementation Group G

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

75
# Symbol AA change Variation ID SNP ID
1 FANCG p.Leu71Pro VAR_017495

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

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCG NM_004629.1(FANCG): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs121434425 GRCh37 Chromosome 9, 35078335: 35078335
2 FANCG NM_004629.1(FANCG): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs121434425 GRCh38 Chromosome 9, 35078338: 35078338
3 FANCG FANCG, IVS13, G-C, -1 single nucleotide variant Pathogenic
4 FANCG NM_004629.1(FANCG): c.307+1G> C single nucleotide variant Pathogenic rs200479612 GRCh37 Chromosome 9, 35078601: 35078601
5 FANCG NM_004629.1(FANCG): c.307+1G> C single nucleotide variant Pathogenic rs200479612 GRCh38 Chromosome 9, 35078604: 35078604
6 FANCG NM_004629.1(FANCG): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic rs121434426 GRCh37 Chromosome 9, 35076439: 35076439
7 FANCG NM_004629.1(FANCG): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic rs121434426 GRCh38 Chromosome 9, 35076442: 35076442
8 FANCG NM_004629.1(FANCG): c.925-2A> G single nucleotide variant Pathogenic rs397507561 GRCh37 Chromosome 9, 35076582: 35076582
9 FANCG NM_004629.1(FANCG): c.925-2A> G single nucleotide variant Pathogenic rs397507561 GRCh38 Chromosome 9, 35076585: 35076585
10 FANCG NM_004629.1(FANCG): c.1480+1G> C single nucleotide variant Pathogenic rs149616199 GRCh37 Chromosome 9, 35075275: 35075275
11 FANCG NM_004629.1(FANCG): c.1480+1G> C single nucleotide variant Pathogenic rs149616199 GRCh38 Chromosome 9, 35075278: 35075278
12 FANCG NM_004629.1(FANCG): c.1794_1803delCTGGATCCGT (p.Trp599Profs) deletion Pathogenic rs397507560 GRCh37 Chromosome 9, 35074171: 35074180
13 FANCG NM_004629.1(FANCG): c.1794_1803delCTGGATCCGT (p.Trp599Profs) deletion Pathogenic rs397507560 GRCh38 Chromosome 9, 35074174: 35074183
14 FANCG NM_004629.1(FANCG): c.637_643delTACCGCC (p.Tyr213Lysfs) deletion Pathogenic rs587776640 GRCh37 Chromosome 9, 35077264: 35077270
15 FANCG NM_004629.1(FANCG): c.637_643delTACCGCC (p.Tyr213Lysfs) deletion Pathogenic rs587776640 GRCh38 Chromosome 9, 35077267: 35077273
16 FANCG NM_004629.1(FANCG): c.1183_1192delGAGGTGTTTT (p.Glu395Trpfs) deletion Pathogenic rs397507559 GRCh37 Chromosome 9, 35075703: 35075712
17 FANCG NM_004629.1(FANCG): c.1183_1192delGAGGTGTTTT (p.Glu395Trpfs) deletion Pathogenic rs397507559 GRCh38 Chromosome 9, 35075706: 35075715

Expression for Fanconi Anemia, Complementation Group G

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Pathways for Fanconi Anemia, Complementation Group G

GO Terms for Fanconi Anemia, Complementation Group G

Sources for Fanconi Anemia, Complementation Group G

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