MCID: FNC023
MIFTS: 20

Fanconi Anemia, Complementation Group N malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer 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 49 11
Fanconi Anemia Complementation Group N 67 24
 
Fancn 67

Characteristics:

HPO:

61
fanconi anemia, complementation group n:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 610832
MedGen34 C1835817
MeSH36 D005199

Summaries for Fanconi Anemia, Complementation Group N

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OMIM:49 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, bone marrow and skin.

UniProtKB/Swiss-Prot:67 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 (wilms tumor) 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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fanconi Anemia, Complementation Group N

Genetic Tests for Fanconi Anemia, Complementation Group N

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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:

33
Bone, Bone marrow, Skin

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 11)
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 variantPathogenic, 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)deletionPathogenic, risk factorrs180177133GRCh38Chr 16, 23614089: 23614089
9PALB2NM_024675.3(PALB2): c.3323delA (p.Tyr1108Serfs)deletionPathogenicrs180177135GRCh38Chr 16, 23607891: 23607891
10PALB2NM_024675.3(PALB2): c.395delT (p.Val132Alafs)deletionPathogenicrs180177085GRCh38Chr 16, 23636151: 23636151
11PALB2NM_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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet