MCID: FNC030
MIFTS: 30

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 54 29 13
Fanconi Anemia Complementation Group G 12 71 69
Fancg 12 71

Classifications:



Summaries for Fanconi Anemia, Complementation Group G

OMIM : 54
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 fancg-related fanconi anemia and fanconi anemia, complementation group a, and has symptoms including neutropenia, microcephaly and thrombocytopenia. An important gene associated with Fanconi Anemia, Complementation Group G is FANCG (Fanconi Anemia Complementation Group G). The drugs Cortisone acetate and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow.

UniProtKB/Swiss-Prot : 71 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.

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

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

Drugs & Therapeutics for Fanconi Anemia, Complementation Group G

Drugs for Fanconi Anemia, Complementation Group G (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cortisone acetate Approved Phase 1 1950-04-4, 50-04-4 5745
2
Lenograstim Approved Phase 1 135968-09-1
3
Methylprednisolone Approved, Vet_approved Phase 1 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 1 50-24-8 5755
5
Prednisone Approved, Vet_approved Phase 1 53-03-2 5865
6 Adjuvants, Immunologic Phase 1
7 Antiemetics Phase 1
8 Anti-HIV Agents Phase 1
9 Anti-Infective Agents Phase 1
10 Anti-Inflammatory Agents Phase 1
11 Antineoplastic Agents, Hormonal Phase 1
12 Anti-Retroviral Agents Phase 1
13 Antiviral Agents Phase 1
14 Autonomic Agents Phase 1
15
Cortisone Phase 1 53-06-5 222786
16 Gastrointestinal Agents Phase 1
17 glucocorticoids Phase 1
18 Hormone Antagonists Phase 1
19 Hormones Phase 1
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
21 JM 3100 Phase 1
22 Methylprednisolone acetate Phase 1
23 Methylprednisolone Hemisuccinate Phase 1
24 Neuroprotective Agents Phase 1
25 Peripheral Nervous System Agents Phase 1
26 Prednisolone acetate Phase 1
27 Prednisolone hemisuccinate Phase 1
28 Prednisolone phosphate Phase 1
29 Protective Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Gene Therapy for Fanconi Anemia Recruiting NCT01331018 Phase 1 Methylprednisolone;Plerixafor;Prednisone

Search 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:

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

Anatomical Context for Fanconi Anemia, Complementation Group G

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

39
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:

71
id Symbol AA change Variation ID SNP ID
1 FANCG p.Leu71Pro VAR_017495

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

6
id 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 FANCG, IVS13, G-C, -1 single nucleotide variant Pathogenic
3 FANCG NM_004629.1(FANCG): c.307+1G> C single nucleotide variant Pathogenic rs200479612 GRCh37 Chromosome 9, 35078601: 35078601
4 FANCG NM_004629.1(FANCG): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic rs121434426 GRCh37 Chromosome 9, 35076439: 35076439
5 FANCG NM_004629.1(FANCG): c.925-2A> G single nucleotide variant Pathogenic rs397507561 GRCh37 Chromosome 9, 35076582: 35076582
6 FANCG NM_004629.1(FANCG): c.1480+1G> C single nucleotide variant Pathogenic rs149616199 GRCh37 Chromosome 9, 35075275: 35075275
7 FANCG NM_004629.1(FANCG): c.1794_1803delCTGGATCCGT (p.Trp599Profs) deletion Pathogenic rs397507560 GRCh37 Chromosome 9, 35074171: 35074180
8 FANCG NM_004629.1(FANCG): c.637_643delTACCGCC (p.Tyr213Lysfs) deletion Pathogenic rs587776640 GRCh37 Chromosome 9, 35077264: 35077270
9 FANCG NM_004629.1(FANCG): c.1183_1192delGAGGTGTTTT (p.Glu395Trpfs) deletion Pathogenic rs397507559 GRCh37 Chromosome 9, 35075703: 35075712

Expression for Fanconi Anemia, Complementation Group G

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

Pathways for Fanconi Anemia, Complementation Group G

GO Terms for Fanconi Anemia, Complementation Group G

Sources for Fanconi Anemia, Complementation Group G

3 CDC
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11 DGIdb
16 ExPASy
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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