Fanconi anemia, complementation group p

Preferred Label : Fanconi anemia, complementation group p;

Symbol : FANCP;

CISMeF acronym : FANCP;

Type : Phenotype, molecular basis known;

Description : 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.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SLX4 structure-specific endonuclease subunit gene (SLX4, 613278.0001);

Neoplasia : Squamous cell carcinoma (1 patient);

Prefixed ID : #613951;

Details

Origin ID

613951;

UMLS CUI

C3469542;

Automatic exact mappings (from CISMeF team)
- SLX4 structure-specific endonuclease subunit [HGNC gene]
- SLX4 structure-specific endonuclease subunit [ORDO Gene]
- SLX4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Fanconi anemia complementation group P [DO Concept]
DO Cross reference
- Fanconi anemia complementation group P [DO Concept]
Genes related to phenotype
- Slx4 structure-specific endonuclease subunit [OMIM gene]
HPO term(s)
- Absent thumb [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Bulbous nose [HPO term]
- Cafe-au-lait spot [HPO term]
- Cryptorchidism [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Horseshoe kidney [HPO term]
- Hypoplasia of the radius [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Pancytopenia [HPO term]
- Pelvic kidney [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Squamous cell carcinoma [HPO term]
- Variable expressivity [HPO term]
- Vitiligo [HPO term]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi anemia complementation group P [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients