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MCID: FNC046
MIFTS: 23
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Fanconi Anemia, Complementation Group P
Categories:
Genetic diseases, Blood diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases
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MalaCards integrated aliases for Fanconi Anemia, Complementation Group P: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:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Blood diseases Nephrological diseases Bone diseases Skin diseases |
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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) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613951Human phenotypes related to Fanconi Anemia, Complementation Group P:32 (show all 18)
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MalaCards organs/tissues related to Fanconi Anemia, Complementation Group P:41
Bone,
Bone Marrow,
Kidney,
Eye
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Genes related to Fanconi Anemia, Complementation Group P (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Fanconi Anemia, Complementation Group P:6
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Search
GEO
for disease gene expression data for Fanconi Anemia, Complementation Group P.
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