MCID: FNC023
MIFTS: 29

Fanconi Anemia, Complementation Group N

Categories: Genetic diseases, Blood diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal 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
Fancn 57 12 75
Fanconi Anemia Complementation Group N 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 fancn, is related to pancreatic cancer 3. An important gene associated with Fanconi Anemia, Complementation Group N is PALB2 (Partner And Localizer Of BRCA2). The drugs Olaparib and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung, and related phenotypes are microcephaly and epicanthus

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.

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

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 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Olaparib Approved Phase 2 763113-22-0 23725625
2
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
3
Gemcitabine Approved Phase 2 95058-81-4 60750
4
Pancrelipase Approved, Investigational Phase 2,Phase 1 53608-75-6
5
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
6
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
7
Levoleucovorin Approved, Investigational Phase 1, Phase 2 68538-85-2
8
Rucaparib Approved, Investigational Phase 1, Phase 2 283173-50-2 9931954
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
10
leucovorin Approved, Nutraceutical Phase 1, Phase 2,Phase 2 58-05-9 143 6006
11 Talazoparib Investigational Phase 2 1207456-01-6
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 Anti-Infective Agents Phase 2
16 Antimetabolites Phase 2,Phase 1
17 Antimetabolites, Antineoplastic Phase 2,Phase 1
18 Antiviral Agents Phase 2
19 Immunosuppressive Agents Phase 2,Phase 1
20 pancreatin Phase 2,Phase 1
21 Antidotes Phase 1, Phase 2
22 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
23 Bone Density Conservation Agents Phase 1, Phase 2
24 Calcium, Dietary Phase 1, Phase 2
25 Hematinics Phase 1, Phase 2
26 Micronutrients Phase 1, Phase 2
27 Protective Agents Phase 1, Phase 2
28 topoisomerase I inhibitors Phase 1, Phase 2
29 Topoisomerase Inhibitors Phase 1, Phase 2
30 Trace Elements Phase 1, Phase 2
31 Vitamin B Complex Phase 1, Phase 2
32 Vitamins Phase 1, Phase 2
33 Folate Nutraceutical Phase 1, Phase 2
34 Vitamin B9 Nutraceutical 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 In Metastatic Breast Cancer Recruiting NCT03344965 Phase 2 Olaparib
3 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
4 Olaparib Before Surgery in Treating Participants With Localized Prostate Cancer Not yet recruiting NCT03570476 Phase 2 Olaparib
5 Olaparib in Treating Patients With Metastatic or Advanced Urothelial Cancer With DNA-Repair Defects Not yet recruiting NCT03375307 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, Lung, Prostate, Breast

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 25)
# 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.1676_1677delAAinsG (p.Gln559Argfs) indel Pathogenic rs515726073 GRCh38 Chromosome 16, 23634869: 23634870
9 PALB2 NM_024675.3(PALB2): c.1676_1677delAAinsG (p.Gln559Argfs) indel Pathogenic rs515726073 GRCh37 Chromosome 16, 23646190: 23646191
10 PALB2 NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799Leufs) insertion Pathogenic rs180177113 GRCh38 Chromosome 16, 23629760: 23629761
11 PALB2 NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799Leufs) insertion Pathogenic rs180177113 GRCh37 Chromosome 16, 23641081: 23641082
12 PALB2 NM_024675.3(PALB2): c.2521delA (p.Thr841Glnfs) deletion Pathogenic rs180177116 GRCh38 Chromosome 16, 23629269: 23629269
13 PALB2 NM_024675.3(PALB2): c.2521delA (p.Thr841Glnfs) deletion Pathogenic rs180177116 GRCh37 Chromosome 16, 23640590: 23640590
14 PALB2 NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs) deletion Pathogenic/Likely pathogenic,risk factor rs180177133 GRCh38 Chromosome 16, 23614089: 23614089
15 PALB2 NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs) deletion Pathogenic/Likely pathogenic,risk factor rs180177133 GRCh37 Chromosome 16, 23625410: 23625410
16 PALB2 NM_024675.3(PALB2): c.3323delA (p.Tyr1108Serfs) deletion Pathogenic rs180177135 GRCh38 Chromosome 16, 23607891: 23607891
17 PALB2 NM_024675.3(PALB2): c.3323delA (p.Tyr1108Serfs) deletion Pathogenic rs180177135 GRCh37 Chromosome 16, 23619212: 23619212
18 PALB2 NM_024675.3(PALB2): c.395delT (p.Val132Alafs) deletion Pathogenic rs180177085 GRCh38 Chromosome 16, 23636151: 23636151
19 PALB2 NM_024675.3(PALB2): c.395delT (p.Val132Alafs) deletion Pathogenic rs180177085 GRCh37 Chromosome 16, 23647472: 23647472
20 PALB2 NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs) deletion Pathogenic rs180177092 GRCh38 Chromosome 16, 23635788: 23635789
21 PALB2 NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs) deletion Pathogenic rs180177092 GRCh37 Chromosome 16, 23647109: 23647110
22 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh38 Chromosome 16, 23635306: 23635306
23 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh37 Chromosome 16, 23646627: 23646627
24 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh38 Chromosome 16, 23603471: 23603471
25 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

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Pathways for Fanconi Anemia, Complementation Group N

GO Terms for Fanconi Anemia, Complementation Group N

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