FANCN
MCID: FNC023
MIFTS: 28

Fanconi Anemia, Complementation Group N (FANCN) malady

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

Aliases & Classifications for Fanconi Anemia, Complementation Group N

Aliases & Descriptions for Fanconi Anemia, Complementation Group N:

Name: Fanconi Anemia, Complementation Group N 54 13
Fanconi Anemia Complementation Group N 12 66 29
Fancn 12 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 610832
Disease Ontology 12 DOID:0111094
MedGen 40 C1835817
MeSH 42 D005199

Summaries for Fanconi Anemia, Complementation Group N

OMIM : 54 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability.... (610832) more...

MalaCards based summary : Fanconi Anemia, Complementation Group N, also known as fanconi anemia complementation group n, is related to fanconi anemia, complementation group a, and has symptoms including hypertelorism, short neck and microcephaly. 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 and bone marrow.

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

UniProtKB/Swiss-Prot : 66 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)
id 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 HP:0002667
9 neuroblastoma 32 HP:0003006
10 medulloblastoma 32 HP:0002885
11 short thumb 32 HP:0009778
12 cafe-au-lait spot 32 HP:0000957
13 chromosomal breakage induced by crosslinking agents 32 HP:0003221

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 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
2
Gemcitabine Approved Phase 2 95058-81-4 60750
3
Succinylcholine Approved Phase 2 306-40-1 5314
4
Pancrelipase Approved Phase 2 53608-75-6
5
Veliparib Investigational Phase 2 912444-00-9 11960529
6 pancreatin Phase 2
7 Neuromuscular Agents Phase 2
8 Neuromuscular Blocking Agents Phase 2
9 Neuromuscular Depolarizing Agents Phase 2
10 Peripheral Nervous System Agents Phase 2
11 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
12 Anti-Infective Agents Phase 2
13 Immunosuppressive Agents Phase 2
14 Antimetabolites Phase 2
15 Antimetabolites, Antineoplastic Phase 2
16 Antiviral Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 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
2 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:

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

Anatomical Context for Fanconi Anemia, Complementation Group N

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

39
Bone, Bone Marrow

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 11)
id 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 PALB2: c.49-?_2586+?del deletion Pathogenic
3 PALB2 NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118203998 GRCh37 Chromosome 16, 23614792: 23614792
4 PALB2 NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic,risk factor rs118203999 GRCh37 Chromosome 16, 23634324: 23634324
5 PALB2 NM_024675.3(PALB2): c.1676_1677delAAinsG (p.Gln559Argfs) indel Pathogenic rs515726073 GRCh38 Chromosome 16, 23634869: 23634870
6 PALB2 NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799Leufs) insertion Pathogenic rs180177113 GRCh38 Chromosome 16, 23629760: 23629761
7 PALB2 NM_024675.3(PALB2): c.2521delA (p.Thr841Glnfs) deletion Pathogenic rs180177116 GRCh38 Chromosome 16, 23629269: 23629269
8 PALB2 NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs) deletion Pathogenic/Likely pathogenic,risk factor rs180177133 GRCh38 Chromosome 16, 23614089: 23614089
9 PALB2 NM_024675.3(PALB2): c.3323delA (p.Tyr1108Serfs) deletion Pathogenic rs180177135 GRCh38 Chromosome 16, 23607891: 23607891
10 PALB2 NM_024675.3(PALB2): c.395delT (p.Val132Alafs) deletion Pathogenic rs180177085 GRCh38 Chromosome 16, 23636151: 23636151
11 PALB2 NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs) deletion Pathogenic rs180177092 GRCh38 Chromosome 16, 23635788: 23635789

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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11 DGIdb
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70 UMLS via Orphanet
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