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FANCN
MCID: FNC023
MIFTS: 42

Fanconi Anemia, Complementation Group N (FANCN)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Fanconi Anemia, Complementation Group N

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MalaCards integrated aliases for Fanconi Anemia, Complementation Group N:

Name: Fanconi Anemia, Complementation Group N 58 30 13 6 41
Fanconi Anemia Complementation Group N 12 76 15
Fancn 58 12 76

Characteristics:

HPO:

33
fanconi anemia, complementation group n:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Blood diseases Bone diseases Immune diseases Skin diseases Nephrological diseases
See all MalaCards categories (disease lists)


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Summaries for Fanconi Anemia, Complementation Group N

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OMIM : 58 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 tracheoesophageal fistula with or without esophageal atresia. 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 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA). The drugs Talazoparib and Olaparib have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung, 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 : 76 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 : 77 Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by... more...

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Related Diseases for Fanconi Anemia, Complementation Group N

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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 tracheoesophageal fistula with or without esophageal atresia 10.1 BRCA2 PALB2
3 isolated tracheoesophageal fistula 10.1 BRCA2 PALB2
4 pancreatic neuroendocrine tumor 10.0 BRCA2 PALB2
5 peritoneum cancer 10.0 BRCA2 PALB2
6 tumor predisposition syndrome 10.0 BRCA2 PALB2
7 bilateral breast cancer 10.0 BRCA2 PALB2
8 fanconi anemia, complementation group o 9.9 FANCI FANCM
9 female breast cancer 9.9 BRCA2 PALB2
10 fanconi anemia, complementation group r 9.9 FANCI FANCM
11 hereditary breast ovarian cancer syndrome 9.9 BRCA2 PALB2
12 fanconi anemia, complementation group t 9.8 FANCI FANCM
13 tracheoesophageal fistula 9.8 BRCA2 DCTN5 PALB2
14 pancreas adenocarcinoma 9.7 BRCA2 PALB2
15 fanconi anemia, complementation group j 9.7 FANCI FANCM PALB2
16 fanconi anemia, complementation group q 9.7 BRCA2 FANCI FANCM
17 congenital hypoplastic anemia 9.7 BRCA2 FANCI FANCM
18 fanconi anemia, complementation group a 9.0 BRCA2 FANCB 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
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Symptoms & Phenotypes for Fanconi Anemia, Complementation Group N

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Human phenotypes related to Fanconi Anemia, Complementation Group N:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 33 occasional (7.5%) HP:0002667
2 neuroblastoma 33 occasional (7.5%) HP:0003006
3 hypertelorism 33 HP:0000316
4 short neck 33 HP:0000470
5 microcephaly 33 HP:0000252
6 aplastic anemia 33 HP:0001915
7 epicanthus 33 HP:0000286
8 postnatal growth retardation 33 HP:0008897
9 ventricular septal defect 33 HP:0001629
10 cafe-au-lait spot 33 HP:0000957
11 medulloblastoma 33 HP:0002885
12 short thumb 33 HP:0009778
13 chromosomal breakage induced by crosslinking agents 33 HP:0003221

Clinical features from OMIM:

610832

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.56 BRCA2 FANCI PALB2
2 Decreased homologous recombination repair frequency GR00236-A-2 9.56 BRCA2 FANCI PALB2
3 Decreased homologous recombination repair frequency GR00236-A-3 9.56 BRCA2 PALB2
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 BRCA2 FANCI FANCM PALB2
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Drugs & Therapeutics for Fanconi Anemia, Complementation Group N

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Talazoparib Approved, Investigational Phase 2 1207456-01-6
2
Olaparib Approved Phase 2,Phase 1 763113-22-0 23725625
3
Rucaparib Approved, Investigational Phase 1, Phase 2 283173-50-2 9931954
4
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
5
Irinotecan Approved, Investigational Phase 1, Phase 2 100286-90-6, 97682-44-5 60838
6
leucovorin Approved Phase 1, Phase 2,Phase 2 58-05-9 6006 143
7
Levoleucovorin Approved, Investigational Phase 1, Phase 2 68538-85-2
8
Pancrelipase Approved, Investigational Phase 1, Phase 2,Phase 2 53608-75-6
9
Gemcitabine Approved Phase 2 95058-81-4 60750
10
Cisplatin Approved Phase 2 15663-27-1 441203 84093 2767
11
Calcium Approved, Nutraceutical Phase 1, Phase 2 7440-70-2 271
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
13
Veliparib Investigational Phase 2 912444-00-9 11960529
14 Poly(ADP-ribose) Polymerase Inhibitors Phase 2,Phase 1
15 Antidotes Phase 1, Phase 2
16 Hematinics Phase 1, Phase 2
17 Bone Density Conservation Agents Phase 1, Phase 2
18 Antimetabolites Phase 1, Phase 2,Phase 2
19 Hormones Phase 1, Phase 2
20 Nutrients Phase 1, Phase 2
21 Vitamin B Complex Phase 1, Phase 2
22 Trace Elements Phase 1, Phase 2
23 Immunosuppressive Agents Phase 1, Phase 2,Phase 2
24 Vitamins Phase 1, Phase 2
25 Protective Agents Phase 1, Phase 2
26 Antimetabolites, Antineoplastic Phase 1, Phase 2,Phase 2
27 Immunologic Factors Phase 1, Phase 2,Phase 2
28 Topoisomerase Inhibitors Phase 1, Phase 2
29 Micronutrients Phase 1, Phase 2
30 pancreatin Phase 1, Phase 2,Phase 2
31 topoisomerase I inhibitors Phase 1, Phase 2
32 Vitamin B9 Phase 1, Phase 2
33 Calcium, Dietary Phase 1, Phase 2
34 Folate Phase 1, Phase 2
35 Anti-Infective Agents Phase 2
36 Antiviral Agents Phase 2
37
Durvalumab Approved, Investigational Phase 1 1428935-60-7
38 Immunoglobulins Phase 1
39 Antibodies, Monoclonal Phase 1
40 Antineoplastic Agents, Immunological Phase 1
41 Immunoglobulin G Phase 1
42 Antibodies Phase 1

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 Olaparib In Metastatic Breast Cancer Recruiting NCT03344965 Phase 2 Olaparib
5 Liposomal Irinotecan, Fluorouracil, Leucovorin Calcium, and Rucaparib in Treating Patients With Metastatic Pancreatic, Colorectal, Gastroesophageal, or Biliary Cancer Recruiting NCT03337087 Phase 1, Phase 2 Fluorouracil;Leucovorin Calcium;Liposomal Irinotecan;Rucaparib
6 Gemcitabine Hydrochloride and Cisplatin With or Without Veliparib or Veliparib Alone in Treating Patients With Locally Advanced or Metastatic Pancreatic Cancer Active, not recruiting NCT01585805 Phase 2 Cisplatin;Gemcitabine Hydrochloride;Veliparib
7 Copanlisib, Olaparib, and Durvalumab in Treating Patients With Metastatic or Unresectable Solid Tumors Not yet recruiting NCT03842228 Phase 1 Copanlisib;Copanlisib Hydrochloride;Olaparib
8 Prospective Multicentre Cohort Study PROREPAIR-B (mCRPC) Completed NCT03075735
9 COsegregation of VARiants in the BRCA1/2 and PALB2 Genes Recruiting NCT01689584 Not Applicable

Search NIH Clinical Center for Fanconi Anemia, Complementation Group N

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Genetic Tests for Fanconi Anemia, Complementation Group N

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Genetic tests related to Fanconi Anemia, Complementation Group N:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group N 30 PALB2
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Anatomical Context for Fanconi Anemia, Complementation Group N

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

42
Bone, Bone Marrow, Lung, Breast, Prostate
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Publications for Fanconi Anemia, Complementation Group N

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Variations for Fanconi Anemia, Complementation Group N

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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
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Expression for Fanconi Anemia, Complementation Group N

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

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

# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 67
Show member pathways
 12.36 BRCA2 FANCB FANCI FANCM PALB2
2
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 67
Show member pathways
 11.34 BRCA2 PALB2
3
Fanconi anemia pathway 67 38
10.99 BRCA2 FANCB FANCI FANCM PALB2
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GO Terms for Fanconi Anemia, Complementation Group N

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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 DCTN5 FANCB FANCI FANCM PALB2
2 Fanconi anaemia nuclear complex GO:0043240 8.96 FANCB FANCM

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 BRCA2 PALB2
2 cellular response to DNA damage stimulus GO:0006974 9.35 BRCA2 FANCB FANCI FANCM PALB2
3 interstrand cross-link repair GO:0036297 9.33 FANCB FANCI FANCM
4 double-strand break repair via homologous recombination GO:0000724 9.32 BRCA2 PALB2
5 inner cell mass cell proliferation GO:0001833 9.26 BRCA2 PALB2
6 multicellular organism growth GO:0035264 9.07 PALB2
7 DNA repair GO:0006281 9.02 BRCA2 FANCB FANCI FANCM PALB2
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Sources for Fanconi Anemia, Complementation Group N

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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