MCID: FNC023
MIFTS: 27

Fanconi Anemia, Complementation Group N

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

Aliases & Classifications for Fanconi Anemia, Complementation Group N

MalaCards integrated aliases for Fanconi Anemia, Complementation Group N:

Name: Fanconi Anemia, Complementation Group N 53 28 13
Fancn 53 12 71
Fanconi Anemia Complementation Group N 12 71

Characteristics:

HPO:

31
fanconi anemia, complementation group n:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group N

OMIM : 53 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, is also known as fancn, and has symptoms including microcephaly, epicanthus and hypertelorism. An important gene associated with Fanconi Anemia, Complementation Group N is PALB2 (Partner And Localizer Of BRCA2). The drugs Cisplatin and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung.

UniProtKB/Swiss-Prot : 71 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.

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

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 epicanthus 31 HP:0000286
3 hypertelorism 31 HP:0000316
4 short neck 31 HP:0000470
5 cafe-au-lait spot 31 HP:0000957
6 ventricular septal defect 31 HP:0001629
7 aplastic anemia 31 HP:0001915
8 nephroblastoma 31 occasional (7.5%) HP:0002667
9 medulloblastoma 31 HP:0002885
10 neuroblastoma 31 occasional (7.5%) HP:0003006
11 chromosomal breakage induced by crosslinking agents 31 HP:0003221
12 postnatal growth retardation 31 HP:0008897
13 short thumb 31 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
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
2
Gemcitabine Approved Phase 2 95058-81-4 60750
3
Pancrelipase Approved, Investigational Phase 2,Phase 1 53608-75-6
4
Olaparib Approved Phase 2 763113-22-0 23725625
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 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 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
3 Olaparib in Treating Patients With Metastatic or Advanced Urothelial Cancer With DNA-Repair Defects Not yet recruiting NCT03375307 Phase 2 Olaparib
4 Olaparib In Metastatic Breast Cancer Not yet recruiting NCT03344965 Phase 2 Olaparib
5 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
6 COsegregation of VARiants in the BRCA1/2 and PALB2 Genes Recruiting NCT01689584
7 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 28 PALB2

Anatomical Context for Fanconi Anemia, Complementation Group N

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

38
Bone, Bone Marrow, Lung

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 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 PALB2 NM_024675.3(PALB2): c.1676_1677delAAinsG (p.Gln559Argfs) indel Pathogenic rs515726073 GRCh38 Chromosome 16, 23634869: 23634870
2 PALB2 NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799Leufs) insertion Pathogenic rs180177113 GRCh38 Chromosome 16, 23629760: 23629761
3 PALB2 NM_024675.3(PALB2): c.2521delA (p.Thr841Glnfs) deletion Pathogenic rs180177116 GRCh38 Chromosome 16, 23629269: 23629269
4 PALB2 NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs) deletion Pathogenic/Likely pathogenic,risk factor rs180177133 GRCh38 Chromosome 16, 23614089: 23614089
5 PALB2 NM_024675.3(PALB2): c.3323delA (p.Tyr1108Serfs) deletion Pathogenic rs180177135 GRCh38 Chromosome 16, 23607891: 23607891
6 PALB2 NM_024675.3(PALB2): c.395delT (p.Val132Alafs) deletion Pathogenic rs180177085 GRCh38 Chromosome 16, 23636151: 23636151
7 PALB2 NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs) deletion Pathogenic rs180177092 GRCh38 Chromosome 16, 23635788: 23635789
8 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh38 Chromosome 16, 23635306: 23635306
9 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh38 Chromosome 16, 23603471: 23603471
10 PALB2 NM_024675.3(PALB2): c.1653T> A (p.Tyr551Ter) single nucleotide variant Pathogenic rs118203997 GRCh37 Chromosome 16, 23646214: 23646214
11 PALB2 PALB2: c.49-?_2586+?del deletion Pathogenic
12 PALB2 NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118203998 GRCh37 Chromosome 16, 23614792: 23614792
13 PALB2 NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic,risk factor rs118203999 GRCh37 Chromosome 16, 23634324: 23634324

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

Sources for Fanconi Anemia, Complementation Group N

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