FANCN
MCID: FNC023
MIFTS: 41

Fanconi Anemia, Complementation Group N (FANCN)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group N

MalaCards integrated aliases for Fanconi Anemia, Complementation Group N:

Name: Fanconi Anemia, Complementation Group N 57 29 13 6 40
Fanconi Anemia Complementation Group N 12 74 15
Fancn 57 12 74

Characteristics:

HPO:

32
fanconi anemia, complementation group n:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111094
MeSH 44 D005199
MedGen 42 C1835817

Summaries for Fanconi Anemia, Complementation Group N

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. (610832)

MalaCards based summary : Fanconi Anemia, Complementation Group N, also known as fanconi anemia complementation group n, is related to pancreatic cancer 3 and isolated tracheoesophageal fistula. An important gene associated with Fanconi Anemia, Complementation Group N is PALB2 (Partner And Localizer Of BRCA2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Fanconi anemia pathway. Affiliated tissues include bone, bone marrow and breast, and related phenotypes are nephroblastoma and neuroblastoma

Disease Ontology : 12 A Fanconi anemia that has material basis in compound heterozygous mutation in the PALB2 gene on chromosome 16p12.

UniProtKB/Swiss-Prot : 74 Fanconi anemia complementation group N: 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.

Wikipedia : 75 Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by... more...

Related Diseases for Fanconi Anemia, Complementation Group N

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group N via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 pancreatic cancer 3 10.1 PALB2 DCTN5
2 isolated tracheoesophageal fistula 10.1 PALB2 BRCA2
3 tracheoesophageal fistula with or without esophageal atresia 10.1 PALB2 BRCA2
4 pancreatic neuroendocrine tumor 10.1 PALB2 BRCA2
5 peritoneum cancer 10.0 PALB2 BRCA2
6 tumor predisposition syndrome 10.0 PALB2 BRCA2
7 bilateral breast cancer 10.0 PALB2 BRCA2
8 fanconi anemia, complementation group o 9.8 FANCM FANCI
9 female breast cancer 9.8 PALB2 BRCA2
10 fanconi anemia, complementation group r 9.7 FANCM FANCI
11 tracheoesophageal fistula 9.7 PALB2 DCTN5 BRCA2
12 fanconi anemia, complementation group t 9.7 FANCM FANCI
13 hereditary breast ovarian cancer syndrome 9.6 PALB2 BRCA2
14 fanconi anemia, complementation group j 9.6 PALB2 FANCM FANCI
15 fanconi anemia, complementation group q 9.5 FANCM FANCI BRCA2
16 congenital hypoplastic anemia 9.4 FANCM FANCI BRCA2
17 fanconi anemia, complementation group a 8.3 PALB2 FANCM FANCI FANCB BRCA2

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



Diseases related to Fanconi Anemia, Complementation Group N

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group N

Human phenotypes related to Fanconi Anemia, Complementation Group N:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 32 occasional (7.5%) HP:0002667
2 neuroblastoma 32 occasional (7.5%) HP:0003006
3 hypertelorism 32 HP:0000316
4 short neck 32 HP:0000470
5 microcephaly 32 HP:0000252
6 aplastic anemia 32 HP:0001915
7 epicanthus 32 HP:0000286
8 postnatal growth retardation 32 HP:0008897
9 ventricular septal defect 32 HP:0001629
10 short thumb 32 HP:0009778
11 cafe-au-lait spot 32 HP:0000957
12 medulloblastoma 32 HP:0002885
13 chromosomal breakage induced by crosslinking agents 32 HP:0003221

Clinical features from OMIM:

610832

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group N according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-3 8.96 BRCA2 PALB2
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 BRCA2 FANCI FANCM PALB2

Drugs & Therapeutics for Fanconi Anemia, Complementation Group N

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

Genetic Tests for Fanconi Anemia, Complementation Group N

Genetic tests related to Fanconi Anemia, Complementation Group N:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group N 29 PALB2

Anatomical Context for Fanconi Anemia, Complementation Group N

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

41
Bone, Bone Marrow, Breast, Testes, T Cells

Publications for Fanconi Anemia, Complementation Group N

Articles related to Fanconi Anemia, Complementation Group N:

(show all 50)
# Title Authors PMID Year
1
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 38 8 71
17200671 2007
2
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. 8 71
17200672 2007
3
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. 38 71
17200668 2007
4
Fanconi anemia: at the crossroads of DNA repair. 8
21568838 2011
5
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 71
19888064 2009
6
Esophageal Atresia/Tracheoesophageal Fistula Overview 71
20301753 2009
7
Carrier screening in individuals of Ashkenazi Jewish descent. 71
18197057 2008
8
Fanconi Anemia 71
20301575 2002
9
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. 38
30540754 2018
10
PALB2 (partner and localizer of BRCA2). 38
31413733 2018
11
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. 38
28837162 2018
12
[PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic]. 38
26691940 2016
13
ATM-dependent Phosphorylation of the Fanconi Anemia Protein PALB2 Promotes the DNA Damage Response. 38
26420486 2015
14
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 38
26254775 2015
15
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 38
25472942 2015
16
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup. 38
26064523 2015
17
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 38
24141787 2014
18
Hypersensitivities for acetaldehyde and other agents among cancer cells null for clinically relevant Fanconi anemia genes. 38
24200853 2014
19
Breast cancer genes: beyond BRCA1 and BRCA2. 38
23747889 2013
20
Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines. 38
23341105 2013
21
No evidence for PALB2 methylation in high-grade serous ovarian cancer. 38
23587053 2013
22
Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. 38
23021409 2013
23
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. 38
23935836 2013
24
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. 38
22829014 2012
25
PALB2 interacts with KEAP1 to promote NRF2 nuclear accumulation and function. 38
22331464 2012
26
Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. 38
21799032 2011
27
Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma. 38
21567085 2011
28
Using mouse models to investigate the biological and physiological consequences of defects in the Fanconi anaemia/breast cancer DNA repair signalling pathway. 38
21557222 2011
29
PALB2/FANCN: recombining cancer and Fanconi anemia. 38
20858716 2010
30
Fanconi anemia gene mutations are not involved in sporadic Wilms tumor. 38
20589654 2010
31
Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. 38
20722467 2010
32
The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. 38
19536649 2009
33
Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. 38
19861535 2009
34
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. 38
19737859 2009
35
Recruitment of fanconi anemia and breast cancer proteins to DNA damage sites is differentially governed by replication. 38
19748364 2009
36
The Fanconi anemia/BRCA gene network in zebrafish: embryonic expression and comparative genomics. 38
19101574 2009
37
FANCM-FAAP24 and FANCJ: FA proteins that metabolize DNA. 38
19379763 2009
38
Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights. 38
19622404 2009
39
PALB2 links BRCA1 and BRCA2 in the DNA-damage response. 38
19268590 2009
40
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. 38
18302019 2009
41
A possible approach for stem cell gene therapy of Fanconi anemia. 38
19275569 2009
42
Defects of FA/BRCA pathway in lymphoma cell lines. 38
19011769 2008
43
[Search for Fanconi anemia/BRCA pathway defects in lymphoma cell lines]. 38
18841560 2008
44
[A role for PALB2/FANCN in breast cancer predisposition?]. 38
18272064 2008
45
Promoter hypermethylation of the PALB2 susceptibility gene in inherited and sporadic breast and ovarian cancer. 38
18281473 2008
46
The Fanconi anaemia/BRCA pathway and cancer susceptibility. Searching for new therapeutic targets. 38
18258506 2008
47
Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. 38
18414782 2008
48
The Fanconi anemia pathway and ubiquitin. 38
18047734 2007
49
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. 38
17768402 2007
50
Analysis of PALB2/FANCN-associated breast cancer families. 38
17420451 2007

Variations for Fanconi Anemia, Complementation Group N

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

6 (show all 37)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PALB2 NM_024675.3(PALB2): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs757369748 16:23649393-23649393 16:23638072-23638072
2 PALB2 NM_024675.3(PALB2): c.1653T> A (p.Tyr551Ter) single nucleotide variant Pathogenic rs118203997 16:23646214-23646214 16:23634893-23634893
3 PALB2 PALB2: c.49-?_2586+?del deletion Pathogenic
4 PALB2 NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs118203999 16:23634324-23634324 16:23623003-23623003
5 PALB2 NM_024675.3(PALB2): c.1676_1677delinsG (p.Gln559fs) indel Pathogenic rs515726073 16:23646190-23646191 16:23634869-23634870
6 PALB2 NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799fs) insertion Pathogenic rs180177113 16:23641081-23641082 16:23629760-23629761
7 PALB2 NM_024675.3(PALB2): c.2521del (p.Thr841fs) deletion Pathogenic rs180177116 16:23640590-23640590 16:23629269-23629269
8 PALB2 NM_024675.3(PALB2): c.3323del (p.Tyr1108fs) deletion Pathogenic rs180177135 16:23619212-23619212 16:23607891-23607891
9 PALB2 NM_024675.3(PALB2): c.395del (p.Val132fs) deletion Pathogenic rs180177085 16:23647472-23647472 16:23636151-23636151
10 PALB2 NM_024675.3(PALB2): c.755_756CT[1] (p.Leu253fs) short repeat Pathogenic rs180177092 16:23647109-23647110 16:23635788-23635789
11 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 16:23646627-23646627 16:23635306-23635306
12 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 16:23614792-23614792 16:23603471-23603471
13 PALB2 NM_024675.3(PALB2): c.3116del (p.Asn1039fs) deletion Pathogenic/Likely pathogenic rs180177133 16:23625410-23625410 16:23614089-23614089
14 PALB2 NM_024675.3(PALB2): c.2834+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs587776419 16:23635329-23635329 16:23624008-23624008
15 PALB2 NM_024675.3(PALB2): c.3350+4A> G single nucleotide variant Pathogenic/Likely pathogenic rs180177136 16:23619181-23619181 16:23607860-23607860
16 PALB2 NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter) single nucleotide variant Pathogenic/Likely pathogenic rs118203998 16:23614792-23614792 16:23603471-23603471
17 PALB2 NM_024675.3(PALB2): c.11C> T (p.Pro4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45619737 16:23652468-23652468 16:23641147-23641147
18 PALB2 NM_024675.3(PALB2): c.3428T> A (p.Leu1143His) single nucleotide variant Conflicting interpretations of pathogenicity rs62625284 16:23614913-23614913 16:23603592-23603592
19 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs180177125 16:23635391-23635391 16:23624070-23624070
20 PALB2 NM_024675.3(PALB2): c.3251C> T (p.Ser1084Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs62625271 16:23619284-23619284 16:23607963-23607963
21 PALB2 NM_024675.3(PALB2): c.1756G> A (p.Asp586Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs587781954 16:23641719-23641719 16:23630398-23630398
22 PALB2 NM_024675.3(PALB2): c.3307G> C (p.Val1103Leu) single nucleotide variant Uncertain significance rs201657283 16:23619228-23619228 16:23607907-23607907
23 PALB2 NM_024675.3(PALB2): c.1348A> C (p.Asn450His) single nucleotide variant Uncertain significance rs62625274 16:23646519-23646519 16:23635198-23635198
24 PALB2 NM_024675.3(PALB2): c.2897T> C (p.Ile966Thr) single nucleotide variant Uncertain significance rs587780214 16:23634389-23634389 16:23623068-23623068
25 PALB2 NM_024675.3(PALB2): c.968C> A (p.Ala323Glu) single nucleotide variant Uncertain significance rs730881882 16:23646899-23646899 16:23635578-23635578
26 PALB2 NM_024675.3(PALB2): c.187C> T (p.Leu63Phe) single nucleotide variant Uncertain significance rs730881899 16:23649195-23649195 16:23637874-23637874
27 PALB2 NM_024675.3(PALB2): c.1526G> A (p.Gly509Asp) single nucleotide variant Uncertain significance rs786203176 16:23646341-23646341 16:23635020-23635020
28 PALB2 NM_024675.3(PALB2): c.1316G> T (p.Gly439Val) single nucleotide variant Uncertain significance rs537258442 16:23646551-23646551 16:23635230-23635230
29 PALB2 NM_024675.3(PALB2): c.1115G> C (p.Ser372Thr) single nucleotide variant Uncertain significance rs786204243 16:23646752-23646752 16:23635431-23635431
30 PALB2 NM_024675.3(PALB2): c.3247G> A (p.Glu1083Lys) single nucleotide variant Uncertain significance rs747785029 16:23619288-23619288 16:23607967-23607967
31 PALB2 NM_024675.3(PALB2): c.1340C> A (p.Ala447Glu) single nucleotide variant Uncertain significance rs1555461334 16:23646527-23646527 16:23635206-23635206
32 PALB2 NM_024675.3(PALB2): c.2026A> C (p.Ile676Leu) single nucleotide variant Uncertain significance rs761478794 16:23641449-23641449 16:23630128-23630128
33 PALB2 NM_024675.3(PALB2): c.2869A> C (p.Lys957Gln) single nucleotide variant Uncertain significance rs515726103 16:23634417-23634417 16:23623096-23623096
34 PALB2 NM_024675.3(PALB2): c.3428T> C (p.Leu1143Pro) single nucleotide variant Uncertain significance rs62625284 16:23614913-23614913 16:23603592-23603592
35 PALB2 NM_024675.3(PALB2): c.2473A> G (p.Arg825Gly) single nucleotide variant Uncertain significance rs745747228 16:23641002-23641002 16:23629681-23629681
36 PALB2 NM_024675.3(PALB2): c.-200-?_3113+?del deletion Uncertain significance
37 PALB2 NM_024675.3(PALB2): c.1759G> A (p.Ala587Thr) single nucleotide variant Uncertain significance rs1060502733 16:23641716-23641716 16:23630395-23630395

Expression for Fanconi Anemia, Complementation Group N

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

Pathways for Fanconi Anemia, Complementation Group N

GO Terms for Fanconi Anemia, Complementation Group N

Cellular components related to Fanconi Anemia, Complementation Group N according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.1 PALB2 FANCM FANCI FANCB DCTN5 BRCA2
2 Fanconi anaemia nuclear complex GO:0043240 8.96 FANCM FANCB

Biological processes related to Fanconi Anemia, Complementation Group N according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.4 PALB2 BRCA2
2 cellular response to DNA damage stimulus GO:0006974 9.35 PALB2 FANCM FANCI FANCB BRCA2
3 interstrand cross-link repair GO:0036297 9.33 FANCM FANCI FANCB
4 double-strand break repair via homologous recombination GO:0000724 9.32 PALB2 BRCA2
5 inner cell mass cell proliferation GO:0001833 9.26 PALB2 BRCA2
6 multicellular organism growth GO:0035264 9.07 PALB2
7 DNA repair GO:0006281 9.02 PALB2 FANCM FANCI FANCB BRCA2

Sources for Fanconi Anemia, Complementation Group N

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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51 NDF-RT
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57 OMIM
58 OMIM via Orphanet
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64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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