FANCP
MCID: FNC046
MIFTS: 39

Fanconi Anemia, Complementation Group P (FANCP)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group P

MalaCards integrated aliases for Fanconi Anemia, Complementation Group P:

Name: Fanconi Anemia, Complementation Group P 57 29 13 6 40 73
Fanconi Anemia Complementation Group P 12 75 15
Fancp 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
six patients have been reported (5/18/2011)


HPO:

32
fanconi anemia, complementation group p:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group P

UniProtKB/Swiss-Prot : 75 Fanconi anemia complementation group P: 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. Some individuals affected by Fanconi anemia of complementation group P have skeletal anomalies.

MalaCards based summary : Fanconi Anemia, Complementation Group P, also known as fanconi anemia complementation group p, is related to fanconi anemia, complementation group a and maternal uniparental disomy of chromosome 16. An important gene associated with Fanconi Anemia, Complementation Group P is SLX4 (SLX4 Structure-Specific Endonuclease Subunit), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Homologous DNA Pairing and Strand Exchange. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are hearing impairment and microcephaly

Disease Ontology : 12 A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has material basis in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3.

OMIM : 57 Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011). For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see 227650. (613951)

Related Diseases for Fanconi Anemia, Complementation Group P

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group P:



Diseases related to Fanconi Anemia, Complementation Group P

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group P

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Growth Other:
growth retardation

Genitourinary Internal Genitalia Male:
cryptorchidism (1 patient)

Head And Neck Head:
microcephaly (1 patient)

Head And Neck Face:
micrognathia (1 patient)

Genitourinary Kidneys:
pelvic kidney (1 patient)
horseshoe kidney (1 patient)

Skeletal Hands:
hypoplastic thumbs (1 patient)
absent thumbs (1 patient)

Hematology:
anemia
pancytopenia (4 patients)
thrombocytopenia, isolated (1 patient)

Skin Nails Hair Skin:
cafe-au-lait spots
hypopigmentation spots
vitiligo (1 patient)

Head And Neck Nose:
bulbous nasal tip (1 patient)

Head And Neck Ears:
hearing loss (1 patient)
hypoplastic malleus (1 patient)
narrow external ear canals (1 patient)
malformed auricle (1 patient)

Head And Neck Eyes:
almond-shaped eyes (1 patient)
short palpebral fissures (1 patient)

Skeletal Limbs:
radial hypoplasia (1 patient)

Neoplasia:
squamous cell carcinoma (1 patient)


Clinical features from OMIM:

613951

Human phenotypes related to Fanconi Anemia, Complementation Group P:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 occasional (7.5%) HP:0000365
2 microcephaly 32 occasional (7.5%) HP:0000252
3 short stature 32 HP:0004322
4 anemia 32 HP:0001903
5 micrognathia 32 occasional (7.5%) HP:0000347
6 pancytopenia 32 HP:0001876
7 cryptorchidism 32 occasional (7.5%) HP:0000028
8 horseshoe kidney 32 occasional (7.5%) HP:0000085
9 vitiligo 32 occasional (7.5%) HP:0001045
10 bulbous nose 32 occasional (7.5%) HP:0000414
11 pelvic kidney 32 occasional (7.5%) HP:0000125
12 blepharophimosis 32 occasional (7.5%) HP:0000581
13 hypoplasia of the radius 32 occasional (7.5%) HP:0002984
14 squamous cell carcinoma 32 occasional (7.5%) HP:0002860
15 short palpebral fissure 32 occasional (7.5%) HP:0012745
16 cafe-au-lait spot 32 HP:0000957
17 short thumb 32 occasional (7.5%) HP:0009778
18 absent thumb 32 occasional (7.5%) HP:0009777

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.85 EME1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.85 GEN1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.85 EME1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.85 EME1 GEN1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.85 EME1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.85 EME1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.85 GEN1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.85 GEN1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.85 EME1
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.55 DCLRE1A EME1 FANCA FANCM
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.55 DCLRE1A EME1 FANCA FANCM MUS81
12 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.43 DCLRE1A EME1 FANCA FANCM GEN1 MUS81

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group P:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 DCLRE1A FANCA FANCM MUS81

Drugs & Therapeutics for Fanconi Anemia, Complementation Group P

Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group P

Genetic Tests for Fanconi Anemia, Complementation Group P

Genetic tests related to Fanconi Anemia, Complementation Group P:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group P 29 SLX4

Anatomical Context for Fanconi Anemia, Complementation Group P

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

41
Bone, Bone Marrow, Kidney, Skin, Eye

Publications for Fanconi Anemia, Complementation Group P

Variations for Fanconi Anemia, Complementation Group P

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group P:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLX4 SLX4, 1-BP DEL, 286A deletion Pathogenic
2 SLX4 SLX4, 1-BP DEL, 1093C deletion Pathogenic
3 SLX4 SLX4, IVS5DS, 1-BP DUP, T, +3 duplication Pathogenic
4 SLX4 SLX4, IVS5DS, T-A, +2 single nucleotide variant Pathogenic
5 SLX4 SLX4, 1-BP DEL, 514C deletion Pathogenic
6 SLX4 SLX4, 4,890-BP DEL/2-BP INS indel Pathogenic
7 SLX4 NM_032444.3(SLX4): c.3365C> T (p.Pro1122Leu) single nucleotide variant Benign rs714181 GRCh38 Chromosome 16, 3590273: 3590273
8 SLX4 NM_032444.3(SLX4): c.3365C> T (p.Pro1122Leu) single nucleotide variant Benign rs714181 GRCh37 Chromosome 16, 3640274: 3640274
9 SLX4 NM_032444.3(SLX4): c.2975G> A (p.Gly992Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139287784 GRCh38 Chromosome 16, 3590663: 3590663
10 SLX4 NM_032444.3(SLX4): c.2975G> A (p.Gly992Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139287784 GRCh37 Chromosome 16, 3640664: 3640664
11 SLX4 NM_032444.3(SLX4): c.3136C> T (p.Arg1046Cys) single nucleotide variant Uncertain significance rs140529288 GRCh37 Chromosome 16, 3640503: 3640503
12 SLX4 NM_032444.3(SLX4): c.3136C> T (p.Arg1046Cys) single nucleotide variant Uncertain significance rs140529288 GRCh38 Chromosome 16, 3590502: 3590502

Expression for Fanconi Anemia, Complementation Group P

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

Pathways for Fanconi Anemia, Complementation Group P

GO Terms for Fanconi Anemia, Complementation Group P

Cellular components related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 DCLRE1A EME1 FANCA FANCM GEN1 MUS81
2 nucleoplasm GO:0005654 9.5 DCLRE1A EME1 FANCA FANCM GEN1 MUS81
3 nuclear chromosome, telomeric region GO:0000784 9.32 DCLRE1A SLX4
4 Fanconi anaemia nuclear complex GO:0043240 9.16 FANCA FANCM
5 Holliday junction resolvase complex GO:0048476 8.8 EME1 MUS81 SLX4

Biological processes related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.72 DCLRE1A EME1 FANCM GEN1 MUS81
2 cellular response to DNA damage stimulus GO:0006974 9.7 DCLRE1A EME1 FANCA FANCM GEN1 MUS81
3 DNA recombination GO:0006310 9.61 EME1 MUS81 SLX4
4 replication fork processing GO:0031297 9.58 EME1 FANCM GEN1
5 resolution of meiotic recombination intermediates GO:0000712 9.56 EME1 FANCM MUS81 SLX4
6 response to intra-S DNA damage checkpoint signaling GO:0072429 9.54 EME1 MUS81 SLX4
7 DNA repair GO:0006281 9.5 DCLRE1A EME1 FANCA FANCM GEN1 MUS81
8 double-strand break repair via homologous recombination GO:0000724 9.49 GEN1 SLX4
9 intra-S DNA damage checkpoint GO:0031573 9.48 EME1 MUS81
10 DNA catabolic process, endonucleolytic GO:0000737 9.46 GEN1 MUS81
11 interstrand cross-link repair GO:0036297 9.1 DCLRE1A EME1 FANCA FANCM MUS81 SLX4

Molecular functions related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.71 EME1 FANCM GEN1 MUS81
2 endonuclease activity GO:0004519 9.5 EME1 GEN1 MUS81
3 nuclease activity GO:0004518 9.46 EME1 FANCM GEN1 MUS81
4 5'-flap endonuclease activity GO:0017108 9.37 GEN1 SLX4
5 3'-flap endonuclease activity GO:0048257 9.26 MUS81 SLX4
6 endodeoxyribonuclease activity GO:0004520 9.26 EME1 GEN1 MUS81 SLX4
7 crossover junction endodeoxyribonuclease activity GO:0008821 8.92 EME1 GEN1 MUS81 SLX4

Sources for Fanconi Anemia, Complementation Group P

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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