MCID: FNC027
MIFTS: 41

Fanconi Anemia, Complementation Group a malady

Genetic diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases, Rare diseases categories
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Summaries for Fanconi Anemia, Complementation Group a

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MalaCards based summary: Fanconi Anemia, Complementation Group a is related to tay-sachs disease and krabbe disease, and has symptoms including An important gene associated with Fanconi Anemia, Complementation Group a is FANCA (Fanconi anemia, complementation group A), and among its related pathways are BRCA1 Pathway and Fanconi anemia pathway. The compounds diepoxybutane and dermatan sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related mouse phenotypes are pigmentation and endocrine/exocrine gland.

Description from OMIM:46 227650

Aliases & Classifications for Fanconi Anemia, Complementation Group a

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Fanconi Anemia, Complementation Group a, Aliases & Descriptions:

Name: Fanconi Anemia, Complementation Group a 46


Classifications:



Related Diseases for Fanconi Anemia, Complementation Group a

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



Diseases related to fanconi anemia, complementation group a

Symptoms for Fanconi Anemia, Complementation Group a

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Symptoms by clinical synopsis from OMIM:

227650

Clinical features from OMIM:

227650

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

(show all 31)
id Description Frequency HPO Source Accession
1 cryptorchidism HP:0000028
2 duplicated collecting system HP:0000081
3 horseshoe kidney HP:0000085
4 ectopic kidney HP:0000086
5 renal agenesis HP:0000104
6 microcephaly HP:0000252
7 hearing impairment HP:0000365
8 strabismus HP:0000486
9 microphthalmos HP:0000568
10 hypergonadotropic hypogonadism HP:0000815
11 cafe-au-lait spot HP:0000957
12 bruising susceptibility HP:0000978
13 abnormality of skin pigmentation HP:0001000
14 anemic pallor HP:0001017
15 intellectual disability HP:0001249
16 small for gestational age HP:0001518
17 thrombocytopenia HP:0001873
18 neutropenia HP:0001875
19 pancytopenia HP:0001876
20 reticulocytopenia HP:0001896
21 anemia HP:0001903
22 leukemia HP:0001909
23 malformation of the heart and great vessels HP:0002564
24 deficient excision of uv-induced pyrimidine dimers in dna HP:0003213
25 prolonged g2 phase of cell cycle HP:0003214
26 chromosomal breakage induced by crosslinking agents HP:0003221
27 absent radius HP:0003974
28 short stature HP:0004322
29 absent thumb HP:0009777
30 short thumb HP:0009778
31 complete duplication of thumb phalanx HP:0009943

Drugs & Therapeutics for Fanconi Anemia, Complementation Group a

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Drug clinical trials:

Search ClinicalTrials for Fanconi Anemia, Complementation Group a

Search NIH Clinical Center for Fanconi Anemia, Complementation Group a

Genetic Tests for Fanconi Anemia, Complementation Group a

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Anatomical Context for Fanconi Anemia, Complementation Group a

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

32
Bone marrow, Bone

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

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MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group a:

36 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9CASP3, SNX5, LMNA
2MP:00053798.5LMNA, FANCG, FANCA, PSAP, CASP3
3MP:00053908.5LMNA, FANCA, PSAP, COMP, CASP3
4MP:00053918.1LMNA, VIM, FANCA, PSAP, CASP3
5MP:00053698.1LMNA, VIM, PSAP, COMP, CASP3
6MP:00053888.0LMNA, VIM, PSAP, SNX5, CASP3
7MP:00053857.9LMNA, VIM, FANCA, PSAP, CASP3
8MP:00053867.8CASP3, COMP, PSAP, VIM, LMNA
9MP:00053897.8CASP3, PSAP, FANCA, FANCG, VIM, LMNA
10MP:00053977.7LMNA, VIM, FANCA, PSAP, SNX5, CASP3
11MP:00053877.6LMNA, VIM, PSAP, SNX5, COMP, CASP3
12MP:00053847.6LMNA, VIM, FANCG, FANCA, PSAP, CASP3
13MP:00053787.4LMNA, VIM, FANCA, PSAP, SNX5, COMP
14MP:00107687.2LMNA, VIM, FANCA, PSAP, SNX5, CASP3

Publications for Fanconi Anemia, Complementation Group a

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Articles related to Fanconi Anemia, Complementation Group a:

(show all 13)
idTitleAuthorsYear
1
Damage-dependent regulation of MUS81-EME1 by Fanconi anemia complementation group A protein. (24170812)
2013
2
Human Fanconi Anemia Complementation Group A Protein Stimulates the 5' Flap Endonuclease Activity of FEN1. (24349332)
2013
3
Changes in vimentin, lamin A/C and mitofilin induceA aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients. (23831462)
2013
4
Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A. (23791750)
2013
5
Fanconi anemia complementation group A (FANCA) protein has intrinsic affinity for nucleic acids with preference for single-stranded forms. (22194614)
2012
6
Validation of Fanconi anemia complementation Group A assignment using molecular analysis. (19367192)
2009
7
Fanconi anemia complementation group A cells are hypersensitive to chromium(VI)-induced toxicity. (12426130)
2002
8
Functional analysis of the putative peroxidase domain of FANCA, the Fanconi anemia complementation group A protein. (11161829)
2001
9
Fanconi anemia, complementation group A, cells are defective in ability to produce incisions at sites of psoralen interstrand cross-links. (10753211)
2000
10
SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein. (10600472)
1999
11
Intracellular localization of the Fanconi anemia complementation group A protein. (10364463)
1999
12
The Fanconi anemia complementation group A protein contains a peroxidase domain. (9608546)
1998
13
A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective in Fanconi anemia, complementation group A, cells. (8414972)
1993

Variations for Fanconi Anemia, Complementation Group a

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

64 (show all 29)
id Symbol AA change Variation ID SNP ID
1FANCAp.Ala181ValVAR_009639rs17232246
2FANCAp.Leu244PheVAR_009640
3FANCAp.Asp252GlyVAR_009641rs17225943
4FANCAp.Arg435CysVAR_009642
5FANCAp.His492ArgVAR_009643
6FANCAp.Leu817ProVAR_009647
7FANCAp.Leu845ProVAR_009648
8FANCAp.Arg1055LeuVAR_009649
9FANCAp.His1110ProVAR_009650
10FANCAp.Arg1117GlyVAR_009651
11FANCAp.Gln1128GluVAR_009652
12FANCAp.Thr1131AlaVAR_009653
13FANCAp.Trp1302ArgVAR_009656
14FANCAp.His1417AspVAR_009658rs17227403
15FANCAp.Asp598AsnVAR_017497
16FANCAp.Ser858ArgVAR_017498rs17233141
17FANCAp.Arg1055TrpVAR_017499
18FANCAp.Leu1082ProVAR_017500
19FANCAp.Ser1088PheVAR_017501rs17233497
20FANCAp.Phe1262LeuVAR_017502
21FANCAp.Asp1359TyrVAR_017503
22FANCAp.Met1360IleVAR_017504
23FANCAp.Pro1324LeuVAR_017505rs182657062
24FANCAp.Leu210ArgVAR_038012
25FANCAp.Leu660ProVAR_038013
26FANCAp.Tyr843AspVAR_038015
27FANCAp.Gln869ProVAR_038016
28FANCAp.Leu1249ProVAR_038019
29FANCAp.Arg1400HisVAR_038021rs149851163

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

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1FANCAFANCA, 274-BP DELdeletionPathogenic
2FANCANM_000135.2(FANCA): c.1115_1118delTTGG (p.Val372Alafs)deletionPathogenicrs397507552GRCh37Chr 16, 89858442: 89858445
3FANCAFANCA, 156-BP DEL, NT1515deletionPathogenic
4FANCAFANCA, 113-BP DEL, NT938deletionPathogenic
5FANCAFANCA, 1-NT DEL, 1615GdeletionPathogenic
6FANCAFANCA, 1-NT DEL, 3559GdeletionPathogenic
7FANCAFANCA, EX12-31DELdeletionPathogenic
8FANCAFANCA, 1-BP DEL, 1609TdeletionPathogenic
9FANCANM_000135.2(FANCA): c.513G> A (p.Trp171Ter)single nucleotide variantPathogenicrs121907930GRCh37Chr 16, 89877124: 89877124
10FANCAFANCA, 5-BP DEL, NT3720deletionPathogenic
11NM_000135.2(FANCA): c.3788_3790delTCT (p.Phe1263del)deletionPathogenicrs397507553GRCh37Chr 16, 89807250: 89807252

Expression for genes affiliated with Fanconi Anemia, Complementation Group a

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Expression patterns in normal tissues for genes affiliated with Fanconi Anemia, Complementation Group a

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Pathways for genes affiliated with Fanconi Anemia, Complementation Group a

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Pathways related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8FANCA, FANCG
29.8FANCA, FANCG
39.8FANCG, FANCA
4
Show member pathways
9.8FANCA, FANCG
5
Show member pathways
9.4CASP3, LMNA
6
Show member pathways
9.2VIM, CASP3
7
Show member pathways
8.6CASP3, VIM, LMNA
8
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
8.6CASP3, VIM, LMNA
9
Show member pathways
FAS pathway and Stress induction of HSP regulation37
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis37
8.6LMNA, VIM, CASP3

Compounds for genes affiliated with Fanconi Anemia, Complementation Group a

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Compounds related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1diepoxybutane4410.2FANCA, FANCG
2dermatan sulfate449.5VIM, COMP
37-ketocholesterol44 2410.5CASP3, VIM
4cisplatin44 50 61 1112.4CASP3, FANCA, FANCG
5n-(4-hydroxyphenyl)retinamide449.4CASP3, VIM
6roscovitine449.4VIM, CASP3
7chondroitin sulfate44 2410.3COMP, VIM
8ganglioside449.1VIM, PSAP
9phosphatidylserine44 28 1111.1VIM, PSAP, CASP3
10wortmannin449.0CASP3, PSAP, VIM
11procollagen449.0COMP, VIM
12lactate449.0CASP3, COMP, VIM
13h2o2448.9VIM, FANCG, FANCA, CASP3
14leucine448.7FANCA, FANCG, VIM, LMNA
15creatinine448.7LMNA, VIM, COMP
16cysteine448.7VIM, PSAP, COMP, CASP3
17alanine448.7FANCA, FANCG, VIM, LMNA
18retinoic acid44 249.5LMNA, VIM, COMP, CASP3
19lipid448.4LMNA, VIM, PSAP, COMP

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

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Cellular components related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:0432409.5FANCA, FANCG
2nucleoplasmGO:0056548.8CASP3, FANCA, FANCG, LMNA

Biological processes related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular component disassembly involved in execution phase of apoptosisGO:0069218.3CASP3, VIM, LMNA
2apoptotic processGO:0069158.3CASP3, COMP, VIM, LMNA

Molecular functions related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.2CASP3, COMP, PSAP, FANCA, FANCG, VIM

Products for genes affiliated with Fanconi Anemia, Complementation Group a

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  • Antibodies
  • Proteins
  • Lysates

Sources for Fanconi Anemia, Complementation Group a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet