FANCN
MCID: FNC023
MIFTS: 38

Fanconi Anemia, Complementation Group N (FANCN)

Categories: Blood diseases, Bone 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 75 15
Fancn 57 12 75

Characteristics:

HPO:

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


Classifications:



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 fanconi anemia, complementation group o. 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 Homologous DNA Pairing and Strand Exchange. The drugs Talazoparib and Olaparib have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are hypertelorism and short neck

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

UniProtKB/Swiss-Prot : 75 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 : 76 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 a family:

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 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 18)
# Related Disease Score Top Affiliating Genes
1 pancreatic cancer 3 10.1 DCTN5 PALB2
2 fanconi anemia, complementation group o 9.9 FANCI FANCM
3 tracheoesophageal fistula with or without esophageal atresia 9.9 BRCA2 PALB2
4 isolated tracheoesophageal fistula 9.9 BRCA2 PALB2
5 pancreatic neuroendocrine tumor 9.9 BRCA2 PALB2
6 peritoneum cancer 9.9 BRCA2 PALB2
7 fanconi anemia, complementation group r 9.9 FANCI FANCM
8 tumor predisposition syndrome 9.9 BRCA2 PALB2
9 bilateral breast cancer 9.9 BRCA2 PALB2
10 fanconi anemia, complementation group t 9.9 FANCI FANCM
11 female breast cancer 9.8 BRCA2 PALB2
12 hereditary breast ovarian cancer syndrome 9.7 BRCA2 BRIP1 PALB2
13 pancreas adenocarcinoma 9.7 BRCA2 PALB2
14 fanconi anemia, complementation group q 9.7 BRCA2 FANCI FANCM
15 fanconi anemia, complementation group j 9.6 BRIP1 FANCI FANCM PALB2
16 tracheoesophageal fistula 9.6 BRCA2 BRIP1 DCTN5 PALB2
17 congenital hypoplastic anemia 9.5 BRCA2 BRIP1 FANCI FANCM
18 fanconi anemia, complementation group a 9.3 BRCA2 BRIP1 FANCI FANCM PALB2

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

Clinical features from OMIM:

610832

Human phenotypes related to Fanconi Anemia, Complementation Group N:

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

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-1 9.92 BRCA2 FANCI PALB2
2 Decreased homologous recombination repair frequency GR00236-A-2 9.92 BRCA2 FANCI PALB2
3 Decreased homologous recombination repair frequency GR00236-A-3 9.92 BRCA2 PALB2
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.55 BRCA2 BRIP1 FANCI FANCM PALB2
5 Decreased viability with cisplatin GR00101-A-4 9.26 BRCA2 BRIP1
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.17 BRCA2 FANCM PALB2
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.17 BRCA2 BRIP1 FANCM PALB2
8 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA2 BRIP1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 BRCA2 BRIP1 FANCM PALB2

Drugs & Therapeutics for Fanconi Anemia, Complementation Group N

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

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Talazoparib Approved, Investigational Phase 2 1207456-01-6
2
Olaparib Approved Phase 2 763113-22-0 23725625
3
Gemcitabine Approved Phase 2 95058-81-4 60750
4
Pancrelipase Approved, Investigational Phase 2,Phase 1 53608-75-6
5
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
6
Levoleucovorin Approved, Investigational Phase 1, Phase 2 68538-85-2
7
Rucaparib Approved, Investigational Phase 1, Phase 2 283173-50-2 9931954
8
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
9
Irinotecan Approved, Investigational Phase 1, Phase 2 100286-90-6, 97682-44-5 60838
10
leucovorin Approved Phase 1, Phase 2,Phase 2 58-05-9 6006 143
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
12
Veliparib Investigational Phase 2 912444-00-9 11960529
13
Camptothecin Experimental Phase 1, Phase 2 7689-03-4
14 Poly(ADP-ribose) Polymerase Inhibitors Phase 2,Phase 1
15 Antimetabolites Phase 2,Phase 1
16 Antiviral Agents Phase 2
17 Antimetabolites, Antineoplastic Phase 2,Phase 1
18 Immunosuppressive Agents Phase 2,Phase 1
19 pancreatin Phase 2,Phase 1
20 Immunologic Factors Phase 2,Phase 1
21 Anti-Infective Agents Phase 2
22 Micronutrients Phase 1, Phase 2
23 Topoisomerase Inhibitors Phase 1, Phase 2
24 Vitamins Phase 1, Phase 2
25 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
26 Vitamin B9 Phase 1, Phase 2
27 Protective Agents Phase 1, Phase 2
28 topoisomerase I inhibitors Phase 1, Phase 2
29 Antidotes Phase 1, Phase 2
30 Hematinics Phase 1, Phase 2
31 Folate Phase 1, Phase 2
32 Bone Density Conservation Agents Phase 1, Phase 2
33 Trace Elements Phase 1, Phase 2
34 Calcium, Dietary Phase 1, Phase 2
35 Vitamin B Complex Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Lung-MAP: Talazoparib in Treating Patients With HRRD Positive Recurrent Stage IV Squamous Cell Lung Cancer Recruiting NCT03377556 Phase 2 Talazoparib
2 Olaparib Before Surgery in Treating Participants With Localized Prostate Cancer Recruiting NCT03570476 Phase 2 Olaparib
3 Olaparib in Treating Patients With Metastatic or Advanced Urothelial Cancer With DNA-Repair Defects Recruiting NCT03375307 Phase 2 Olaparib
4 Gemcitabine Hydrochloride and Cisplatin With or Without Veliparib or Veliparib Alone in Treating Patients With Locally Advanced or Metastatic Pancreatic Cancer Recruiting NCT01585805 Phase 2 Cisplatin;Gemcitabine Hydrochloride;Veliparib
5 Olaparib In Metastatic Breast Cancer Recruiting NCT03344965 Phase 2 Olaparib
6 Liposomal Irinotecan, Fluorouracil, Leucovorin Calcium, and Rucaparib in Treating Patients With Metastatic Pancreatic, Colorectal, Gastroesophageal, or Biliary Cancer Not yet recruiting NCT03337087 Phase 1, Phase 2 Fluorouracil;Leucovorin Calcium;Liposomal Irinotecan;Rucaparib
7 COsegregation of VARiants in the BRCA1/2 and PALB2 Genes Recruiting NCT01689584 Not Applicable
8 Prospective Multicentre Cohort Study PROREPAIR-B (mCRPC) Active, not recruiting NCT03075735

Search 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, Skin, Pancreas

Publications for Fanconi Anemia, Complementation Group N

Variations for Fanconi Anemia, Complementation Group N

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

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 PALB2 NM_024675.3(PALB2): c.1653T> A (p.Tyr551Ter) single nucleotide variant Pathogenic rs118203997 GRCh37 Chromosome 16, 23646214: 23646214
2 PALB2 NM_024675.3(PALB2): c.1653T> A (p.Tyr551Ter) single nucleotide variant Pathogenic rs118203997 GRCh38 Chromosome 16, 23634893: 23634893
3 PALB2 PALB2: c.49-?_2586+?del deletion Pathogenic
4 PALB2 NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118203998 GRCh37 Chromosome 16, 23614792: 23614792
5 PALB2 NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118203998 GRCh38 Chromosome 16, 23603471: 23603471
6 PALB2 NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs118203999 GRCh37 Chromosome 16, 23634324: 23634324
7 PALB2 NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs118203999 GRCh38 Chromosome 16, 23623003: 23623003
8 PALB2 NM_024675.3(PALB2): c.-200-?_3113+?del deletion Uncertain significance
9 PALB2 NM_024675.3(PALB2): c.11C> T (p.Pro4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45619737 GRCh38 Chromosome 16, 23641147: 23641147
10 PALB2 NM_024675.3(PALB2): c.11C> T (p.Pro4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45619737 GRCh37 Chromosome 16, 23652468: 23652468
11 PALB2 NM_024675.3(PALB2): c.1676_1677delAAinsG (p.Gln559Argfs) indel Pathogenic rs515726073 GRCh38 Chromosome 16, 23634869: 23634870
12 PALB2 NM_024675.3(PALB2): c.1676_1677delAAinsG (p.Gln559Argfs) indel Pathogenic rs515726073 GRCh37 Chromosome 16, 23646190: 23646191
13 PALB2 NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799Leufs) insertion Pathogenic rs180177113 GRCh38 Chromosome 16, 23629760: 23629761
14 PALB2 NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799Leufs) insertion Pathogenic rs180177113 GRCh37 Chromosome 16, 23641081: 23641082
15 PALB2 NM_024675.3(PALB2): c.2521delA (p.Thr841Glnfs) deletion Pathogenic rs180177116 GRCh38 Chromosome 16, 23629269: 23629269
16 PALB2 NM_024675.3(PALB2): c.2521delA (p.Thr841Glnfs) deletion Pathogenic rs180177116 GRCh37 Chromosome 16, 23640590: 23640590
17 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Uncertain significance rs180177125 GRCh38 Chromosome 16, 23624070: 23624070
18 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Uncertain significance rs180177125 GRCh37 Chromosome 16, 23635391: 23635391
19 PALB2 NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs) deletion Pathogenic/Likely pathogenic,risk factor rs180177133 GRCh38 Chromosome 16, 23614089: 23614089
20 PALB2 NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs) deletion Pathogenic/Likely pathogenic,risk factor rs180177133 GRCh37 Chromosome 16, 23625410: 23625410
21 PALB2 NM_024675.3(PALB2): c.3323delA (p.Tyr1108Serfs) deletion Pathogenic rs180177135 GRCh38 Chromosome 16, 23607891: 23607891
22 PALB2 NM_024675.3(PALB2): c.3323delA (p.Tyr1108Serfs) deletion Pathogenic rs180177135 GRCh37 Chromosome 16, 23619212: 23619212
23 PALB2 NM_024675.3(PALB2): c.3350+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs180177136 GRCh38 Chromosome 16, 23607860: 23607860
24 PALB2 NM_024675.3(PALB2): c.3350+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs180177136 GRCh37 Chromosome 16, 23619181: 23619181
25 PALB2 NM_024675.3(PALB2): c.395delT (p.Val132Alafs) deletion Pathogenic rs180177085 GRCh38 Chromosome 16, 23636151: 23636151
26 PALB2 NM_024675.3(PALB2): c.395delT (p.Val132Alafs) deletion Pathogenic rs180177085 GRCh37 Chromosome 16, 23647472: 23647472
27 PALB2 NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs) deletion Pathogenic rs180177092 GRCh38 Chromosome 16, 23635788: 23635789
28 PALB2 NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs) deletion Pathogenic rs180177092 GRCh37 Chromosome 16, 23647109: 23647110
29 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh38 Chromosome 16, 23635306: 23635306
30 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh37 Chromosome 16, 23646627: 23646627
31 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh38 Chromosome 16, 23603471: 23603471
32 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh37 Chromosome 16, 23614792: 23614792

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 BRCA2 BRIP1 DCTN5 FANCI FANCM PALB2

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 9.46 BRCA2 PALB2
2 multicellular organism growth GO:0035264 9.43 BRCA2 PALB2
3 double-strand break repair via homologous recombination GO:0000724 9.4 BRCA2 PALB2
4 double-strand break repair GO:0006302 9.37 BRCA2 BRIP1
5 cellular response to DNA damage stimulus GO:0006974 9.35 BRCA2 BRIP1 FANCI FANCM PALB2
6 interstrand cross-link repair GO:0036297 9.32 FANCI FANCM
7 nucleotide-excision repair GO:0006289 9.26 BRCA2 BRIP1
8 inner cell mass cell proliferation GO:0001833 9.16 BRCA2 PALB2
9 DNA repair GO:0006281 9.02 BRCA2 BRIP1 FANCI FANCM PALB2

Molecular functions related to Fanconi Anemia, Complementation Group N according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.02 BRCA2 BRIP1 FANCI FANCM PALB2
2 helicase activity GO:0004386 8.96 BRIP1 FANCM

Sources for Fanconi Anemia, Complementation Group N

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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