MCID: FNC023
MIFTS: 20

Fanconi Anemia, Complementation Group N malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases categories

Summaries for Fanconi Anemia, Complementation Group N

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OMIM:45 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability.... (610832) more...

MalaCards based summary: Fanconi Anemia, Complementation Group N and has symptoms including autosomal recessive inheritance, microcephaly and epicanthus. An important gene associated with Fanconi Anemia, Complementation Group N is PALB2 (partner and localizer of BRCA2). Affiliated tissues include bone marrow and bone.

Aliases & Classifications for Fanconi Anemia, Complementation Group N

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Fanconi Anemia, Complementation Group N, Aliases & Descriptions:

Name: Fanconi Anemia, Complementation Group N 45 10 22


Classifications:



External Ids:

OMIM45 610832

Related Diseases for Fanconi Anemia, Complementation Group N

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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 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 epicanthus HP:0000286
4 hypertelorism HP:0000316
5 short neck HP:0000470
6 cafe-au-lait spot HP:0000957
7 ventricular septal defect HP:0001629
8 aplastic anemia HP:0001915
9 nephroblastoma (wilms tumor) HP:0002667
10 medulloblastoma HP:0002885
11 neuroblastoma HP:0003006
12 chromosomal breakage induced by crosslinking agents HP:0003221
13 postnatal growth retardation HP:0008897
14 short thumb HP:0009778

Drugs & Therapeutics for Fanconi Anemia, Complementation Group N

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Drug clinical trials:

Search ClinicalTrials for Fanconi Anemia, Complementation Group N

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 N22

Anatomical Context for Fanconi Anemia, Complementation Group N

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

31
Bone marrow, Bone

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:

6 (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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Compounds 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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Products for genes affiliated with Fanconi Anemia, Complementation Group N

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Fanconi Anemia, Complementation Group N

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet