FANCP
MCID: FNC046
MIFTS: 49
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Fanconi Anemia, Complementation Group P (FANCP)
Categories:
Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Fanconi Anemia, Complementation Group P:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
highly variable severity six patients have been reported (last curated may 2011) HPO:31
fanconi anemia, complementation group p:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases Anatomical: Blood diseases Nephrological diseases Bone diseases Skin diseases Immune diseases |
UniProtKB/Swiss-Prot :
73
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 deficiency anemia and fanconi anemia, complementation group d2. 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 Chks in Checkpoint Regulation. Affiliated tissues include bone marrow, kidney and breast, 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) (Updated 05-Mar-2021) |
Human phenotypes related to Fanconi Anemia, Complementation Group P:31 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:613951 (Updated 05-Mar-2021)GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group P:46
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MalaCards organs/tissues related to Fanconi Anemia, Complementation Group P:40
Bone Marrow,
Kidney,
Breast
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Articles related to Fanconi Anemia, Complementation Group P:(show all 35)
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ClinVar genetic disease variations for Fanconi Anemia, Complementation Group P:6 (show top 50) (show all 262)
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Search
GEO
for disease gene expression data for Fanconi Anemia, Complementation Group P.
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Pathways related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:
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Cellular components related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:
Biological processes related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:(show all 20)
Molecular functions related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:
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