MCID: FNC046
MIFTS: 23

Fanconi Anemia, Complementation Group P

Categories: Genetic diseases, Blood diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal 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
Fancp 57 12 75
Fanconi Anemia Complementation Group P 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, is also known as fancp. An important gene associated with Fanconi Anemia, Complementation Group P is SLX4 (SLX4 Structure-Specific Endonuclease Subunit). Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are cryptorchidism and horseshoe kidney

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

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group P

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Growth Other:
growth retardation

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

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, 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
# 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

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

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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