MCID: FNC030
MIFTS: 25

Fanconi Anemia, Complementation Group G malady

Category: Genetic diseases (common)

Aliases & Classifications for Fanconi Anemia, Complementation Group G

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Aliases & Descriptions for Fanconi Anemia, Complementation Group G:

Name: Fanconi Anemia, Complementation Group G 49 11
Fanconi Anemia Complementation Group G 67 24 65
 
Fancg 67

Classifications:



External Ids:

OMIM49 614082
MedGen34 CN069000
MeSH36 D005199
UMLS65 C3469527

Summaries for Fanconi Anemia, Complementation Group G

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OMIM:49 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:67 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

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



Diseases related to fanconi anemia, complementation group g

Symptoms for Fanconi Anemia, Complementation Group G

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Clinical features from OMIM:

614082

HPO human phenotypes related to Fanconi Anemia, Complementation Group G:

(show all 11)
id Description Frequency HPO Source Accession
1 growth delay 19% HP:0001510
2 microcephaly 14% HP:0000252
3 microphthalmia 8% HP:0000568
4 abnormality of the thumb HP:0001172
5 thrombocytopenia HP:0001873
6 neutropenia HP:0001875
7 anemia HP:0001903
8 leukemia HP:0001909
9 myelodysplasia HP:0002863
10 abnormality of chromosome stability HP:0003220
11 multiple cafe-au-lait spots HP:0007565

Drugs & Therapeutics for Fanconi Anemia, Complementation Group G

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Interventional clinical trials:

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

Genetic Tests for Fanconi Anemia, Complementation Group G

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Anatomical Context for Fanconi Anemia, Complementation Group G

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

33
Bone, Bone marrow

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

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Publications for Fanconi Anemia, Complementation Group G

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Variations for Fanconi Anemia, Complementation Group G

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

67
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)single nucleotide variantPathogenicrs121434425GRCh37Chr 9, 35078335: 35078335
3FANCGFANCG, IVS13, G-C, -1single nucleotide variantPathogenic
4FANCGNM_004629.1(FANCG): c.307+1G> Csingle nucleotide variantPathogenicrs200479612GRCh37Chr 9, 35078601: 35078601
5FANCGNM_004629.1(FANCG): c.1066C> T (p.Gln356Ter)single nucleotide variantPathogenicrs121434426GRCh37Chr 9, 35076439: 35076439
6FANCGNM_004629.1(FANCG): c.925-2A> Gsingle nucleotide variantPathogenicrs397507561GRCh37Chr 9, 35076582: 35076582
7FANCGNM_004629.1(FANCG): c.1480+1G> Csingle nucleotide variantPathogenicrs149616199GRCh37Chr 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

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

Pathways for genes affiliated with Fanconi Anemia, Complementation Group G

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

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Sources for Fanconi Anemia, Complementation Group G

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet