MCID: FNC030
MIFTS: 24

Fanconi Anemia, Complementation Group G malady

Category: Genetic diseases (common)

Aliases & Classifications for Fanconi Anemia, Complementation Group G

About this section

Aliases & Descriptions for Fanconi Anemia, Complementation Group G:

Name: Fanconi Anemia, Complementation Group G 51 12
Fanconi Anemia Complementation Group G 69 26 67
 
Fancg 69

Classifications:



External Ids:

OMIM51 614082
MedGen36 CN069000
MeSH38 D005199

Summaries for Fanconi Anemia, Complementation Group G

About this section
OMIM:51 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability.... (614082) more...

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 growth delay, microcephaly and microphthalmia. An important gene associated with Fanconi Anemia, Complementation Group G is FANCG (Fanconi Anemia Complementation Group G). Affiliated tissues include bone and bone marrow.

UniProtKB/Swiss-Prot:69 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

About this section

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



Diseases related to fanconi anemia, complementation group g

Symptoms for Fanconi Anemia, Complementation Group G

About this section


Clinical features from OMIM:

614082

Human phenotypes related to Fanconi Anemia, Complementation Group G:

 63 (show all 11)
id Description HPO Frequency HPO Source Accession
1 growth delay63 19% HP:0001510
2 microcephaly63 14% HP:0000252
3 microphthalmia63 8% HP:0000568
4 abnormality of the thumb63 HP:0001172
5 thrombocytopenia63 HP:0001873
6 neutropenia63 HP:0001875
7 anemia63 HP:0001903
8 leukemia63 HP:0001909
9 myelodysplasia63 HP:0002863
10 abnormality of chromosome stability63 HP:0003220
11 multiple cafe-au-lait spots63 HP:0007565

Drugs & Therapeutics for Fanconi Anemia, Complementation Group G

About this section

Interventional clinical trials:

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

Genetic Tests for Fanconi Anemia, Complementation Group G

About this section

Genetic tests related to Fanconi Anemia, Complementation Group G:

id Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group G26

Anatomical Context for Fanconi Anemia, Complementation Group G

About this section

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

35
Bone, Bone marrow

Animal Models for Fanconi Anemia, Complementation Group G or affiliated genes

About this section

Publications for Fanconi Anemia, Complementation Group G

About this section

Variations for Fanconi Anemia, Complementation Group G

About this section

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

69
id Symbol AA change Variation ID SNP ID
1FANCGp.Leu71ProVAR_017495

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FANCGNM_004629.1(FANCG): c.1183_1192delGAGGTGTTTT (p.Glu395Trpfs)deletionPathogenicrs397507559GRCh37Chr 9, 35075703: 35075712
2FANCGNM_004629.1(FANCG): c.313G> T (p.Glu105Ter)SNVPathogenicrs121434425GRCh37Chr 9, 35078335: 35078335
3FANCGFANCG, IVS13, G-C, -1SNVPathogenicChr na, -1: -1
4FANCGNM_004629.1(FANCG): c.307+1G> CSNVPathogenicrs200479612GRCh37Chr 9, 35078601: 35078601
5FANCGNM_004629.1(FANCG): c.1066C> T (p.Gln356Ter)SNVPathogenicrs121434426GRCh37Chr 9, 35076439: 35076439
6FANCGNM_004629.1(FANCG): c.925-2A> GSNVPathogenicrs397507561GRCh37Chr 9, 35076582: 35076582
7FANCGNM_004629.1(FANCG): c.1480+1G> CSNVPathogenicrs149616199GRCh37Chr 9, 35075275: 35075275
8FANCGNM_004629.1(FANCG): c.1794_1803delCTGGATCCGT (p.Trp599Profs)deletionPathogenicrs397507560GRCh37Chr 9, 35074171: 35074180
9FANCGNM_004629.1(FANCG): c.637_643delTACCGCC (p.Tyr213Lysfs)deletionPathogenicrs587776640GRCh37Chr 9, 35077264: 35077270

Expression for genes affiliated with Fanconi Anemia, Complementation Group G

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

Pathways for genes affiliated with Fanconi Anemia, Complementation Group G

About this section

GO Terms for genes affiliated with Fanconi Anemia, Complementation Group G

About this section

Sources for Fanconi Anemia, Complementation Group G

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet