MCID: FNC023
MIFTS: 27

Fanconi Anemia, Complementation Group N malady

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

Aliases & Classifications for Fanconi Anemia, Complementation Group N

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Aliases & Descriptions for Fanconi Anemia, Complementation Group N:

Name: Fanconi Anemia, Complementation Group N 50 12
Fanconi Anemia Complementation Group N 68 25
 
Fancn 68

Characteristics:

HPO:

62
fanconi anemia, complementation group n:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 610832
MedGen35 C1835817
MeSH37 D005199

Summaries for Fanconi Anemia, Complementation Group N

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OMIM:50 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 microcephaly, epicanthus and hypertelorism. An important gene associated with Fanconi Anemia, Complementation Group N is PALB2 (Partner And Localizer Of BRCA2). Affiliated tissues include bone and bone marrow.

UniProtKB/Swiss-Prot:68 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

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Diseases in the Fanconi Anemia, Complementation Group T family:

Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group I
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group Q
fanconi anemia, complementation group n Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group J Fanconi Anemia, Complementation Group O

Diseases related to Fanconi Anemia, Complementation Group N via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fanconi anemia, complementation group a10.0

Symptoms for Fanconi Anemia, Complementation Group N

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Clinical features from OMIM:

610832

HPO human phenotypes related to Fanconi Anemia, Complementation Group N:

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

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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
succinylcholinePhase 2154306-40-15314
Synonyms:
2,2'-[(1,4-DIOXOBUTANE-1,4-DIYL)BIS(OXY)]BIS(N,N,N-TRIMETHYLETHANAMINIUM)
2,2'-[(1,4-DIOXOBUTANE-1,4-diyl)bis(oxy)]bis(N,N,N-trimethylethanaminium)
2ha2
2ha6
306-40-1
4-04-00-01451 (Beilstein Handbook Reference)
541-19-5 (diiodide)
55-94-7 (dibromide)
71-27-2 (dichloride)
AC1L1K2T
Anectine
BRN 1805311
C07546
C14H30N2O4
CHEBI:45652
CHEMBL703
CID5314
Choline, succinate (2:1) (ester)
Choline, succinate (ester)
DB00202
Diacetylcholine
Dicholine succinate
Ditilin
Ditiline
HMS2090P14
HSDB 3254
InChI=1/C14H30N2O4/c1-15(2,3)9-11-19-13(17)7-8-14(18)20-12-10-16(4,5)6/h7-12H2,1-6H3/q+2
L000926
LS-53328
Listenon
 
Lopac-S-8251
Lopac0_001080
Lysthenon
MolPort-002-964-486
NCGC00015971-01
NCGC00015971-03
NCGC00162336-01
Quelicin
Quelicin Preservative Free
SCK
ST50437287
STK177290
Scoline
Succicuran
Succinic acid, diester with choline
Succinic acid, diester with choline chloride
Succinocholine
Succinoylcholine
Succinyl choline
Succinylbischoline
Succinylcholine
Succinylcholine Chloride
Succinyldicholine
Sucostrin
Suxamethonium
Suxamethonium chloride
UNII-J2R869A8YF
ZINC01530820
succinylcholine
succinyldicholine
trimethyl-[2-[4-oxo-4-(2-trimethylazaniumylethoxy)butanoyl]oxyethyl]azanium diio
trimethyl-[2-[4-oxo-4-[2-(trimethylazaniumyl)ethoxy]butanoyl]oxyethyl]azanium
2
VeliparibPhase 292912444-00-911960529
Synonyms:
(2R)-2-(7-carbamoyl-1H-benzimidazol-2-yl)-2-methylpyrrolidinium
2-((2R)-2-methylpyrrolidin-2-yl)-1H-benzimidazole-4-carboxamide
 
ABT 888
ABT-888
veliparib
3
PancrelipasePhase 291753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
4pancreatinPhase 2917
5
GemcitabinePhase 2192895058-81-460750
Synonyms:
103882-84-4
122111-03-9
2',2'-DiF-dC
2',2'-Difluoro-2'-deoxycytidine
2',2'-Difluorodeoxycytidine
2'-Deoxy-.beta.-D-2',2'-difluorocytidine
2'-Deoxy-2',2'-difluorocytidine
4-Amino-1-[(2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one
4-Amino-1-[3,3-difluoro-4-hydroxy-5-(hydroxymethyl) tetrahydrofuran-2-yl]-1H-pyrimidin-2-one
4-amino-1-((2R,4R,5R)-3,3-Difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one
4-amino-1-((2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one
95058-81-4
AB1004842
AC1L1TUQ
C07650
CCRIS 8984
CHEBI:175901
CHEMBL888
CID60750
Cytidine, 2'-deoxy-2',2'-difluoro-2'-Deoxy-.beta.-D-2',2'-difluorocytidine
D02368
DB00441
DDFC
DFDC
DFdC
DFdCyd
Folfugem
GEO
Gamcitabine
GemLip
Gemcel
 
Gemcin
Gemcitabin
Gemcitabina
Gemcitabina [INN-Spanish]
Gemcitabine
Gemcitabine (USAN/INN)
Gemcitabine HCl
Gemcitabine hydrochloride
Gemcitabine stereoisomer
Gemcitabinum
Gemcitabinum [INN-Latin]
Gemtro
Gemzar
Gemzar (hydrochloride)
HMS2089P10
HSDB 7567
Inno-D07001
LS-59139
LY 188011
LY-188011
LY188011
NCGC00168784-01
NChemBio.2007.10-comp25
NSC 613327
NSC613327
TL8005979
UNII-B76N6SBZ8R
ZINC18279854
Zefei
gemcitabine
nchembio.573-comp7
nchembio.90-comp2
6
CisplatinPhase 2261415663-27-184093, 441203, 2767
Synonyms:
(SP-4-1)-diamminedichloridoplatinum
(SP-4-1)-diamminedichloroplatinum
(SP-4-2)-diamminedichloridoplatinum
(SP-4-2)-diamminedichloroplatinum
Abiplatin
Biocisplatinum
Briplatin
CACP
CDDP
CHEBI:35852
CID441203
CPD0-1392
CPDC
CPDD
Carboquone
Cis Pt II
Cis-DDP
Cis-Diaminedichloroplatinum
Cis-Diamminedichloroplatinum
Cismaplat
Cisplatine
Cisplatino
Cisplatinum
Cisplatyl
Citoplationo
DB00515
DDP
DDPT
Diamminedichloroplatinum
 
EU-0100918
Lederplatin
Neoplatin
Peyrone's chloride
Peyrone's salt
Plastin
Platamine
Platiblastin
Platidiam
Platinex
Platinol
Platinol-AQ
Platinoxan
Platinum Ammine Chloride
Platinum Ammonium Chloride
Platinum Diamine Dichloride
Randa
Trans-DDP
Trans-Diaminedichloroplatinum
Trans-Diamminedichloroplatinum
Trans-Dichlorodiammine Platinum
Trans-Platinumdiammine Dichloride
cis-DDP
cis-Diamminedichloroplatinum
cis-Dichlorodiammineplatinum(II)
cis-[PtCl2(NH3)2]
cis-diamminedichloridoplatinum(II)
cis-diamminedichloroplatinum(II)
nchembio773-comp1
trans-diamminedichloridoplatinum(II)

Interventional clinical trials:

idNameStatusNCT IDPhase
1Gemcitabine Hydrochloride and Cisplatin With or Without Veliparib or Veliparib Alone in Treating Patients With Locally Advanced or Metastatic Pancreatic CancerRecruitingNCT01585805Phase 2

Search NIH Clinical Center for Fanconi Anemia, Complementation Group N

Genetic Tests for Fanconi Anemia, Complementation Group N

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Genetic tests related to Fanconi Anemia, Complementation Group N:

id Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group N25

Anatomical Context for Fanconi Anemia, Complementation Group N

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

34
Bone, Bone marrow

Animal Models for Fanconi Anemia, Complementation Group N or affiliated genes

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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:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1PALB2NM_024675.3(PALB2): c.1653T> A (p.Tyr551Ter)single nucleotide variantPathogenicrs118203997GRCh37Chr 16, 23646214: 23646214
2PALB2PALB2: c.49-?_2586+?deldeletionPathogenic
3PALB2NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter)single nucleotide variantLikely pathogenic, Pathogenic, risk factorrs118203998GRCh37Chr 16, 23614792: 23614792
4PALB2NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter)single nucleotide variantPathogenic, risk factorrs118203999GRCh37Chr 16, 23634324: 23634324
5PALB2NM_024675.3(PALB2): c.1676_1677delAAinsG (p.Gln559Argfs)indelPathogenicrs515726073GRCh38Chr 16, 23634869: 23634870
6PALB2NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799Leufs)insertionPathogenicrs180177113GRCh38Chr 16, 23629760: 23629761
7PALB2NM_024675.3(PALB2): c.2521delA (p.Thr841Glnfs)deletionPathogenicrs180177116GRCh38Chr 16, 23629269: 23629269
8PALB2NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs)deletionLikely pathogenic, Pathogenic, risk factorrs180177133GRCh38Chr 16, 23614089: 23614089
9PALB2NM_024675.3(PALB2): c.3323delA (p.Tyr1108Serfs)deletionPathogenicrs180177135GRCh38Chr 16, 23607891: 23607891
10PALB2NM_024675.3(PALB2): c.3350+4A> Gsingle nucleotide variantPathogenicrs180177136GRCh38Chr 16, 23607860: 23607860
11PALB2NM_024675.3(PALB2): c.395delT (p.Val132Alafs)deletionPathogenicrs180177085GRCh38Chr 16, 23636151: 23636151
12PALB2NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs)deletionPathogenicrs180177092GRCh38Chr 16, 23635788: 23635789

Expression for genes affiliated with Fanconi Anemia, Complementation Group N

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

Pathways for genes affiliated with Fanconi Anemia, Complementation Group N

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GO Terms for genes affiliated with Fanconi Anemia, Complementation Group N

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Sources for Fanconi Anemia, Complementation Group N

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet