Choroid plexus carcinoma

General Information (adopted from Orphanet):

Synonyms, Signs: CPC, INCLUDED
CHOROID PLEXUS PAPILLOMA CHOROID PLEXUS CARCINOMA, INCLUDED
CPP
Number of Symptoms 3
OrphanetNr: 251899
OMIM Id: 260500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Choroid plexus tumor
 -Rare neurologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0200022) Choroid plexus papilloma 2 / 7739
2
 (OMIM) Intraventricular choroid plexus papilloma 2 / 7739
3
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with ...
Clinical Description OMIM Komminoth et al. (1965) observed intraventricular papilloma of the choroid plexus in a 2-year-old boy and his 4-year-old sister. Coons et al. (1989) described malignant degeneration of choroid plexus papillomas in 2 sibs.

Rutherford et al. ...
Molecular genetics OMIM Sevenet et al. (1999) described mutations in the SNF5/INI1 (601607) gene in a number of different forms of childhood tumors, most of which exhibited a rhabdoid phenotype (609322). While mutations were identified in patients with carcinoma of the ...
Population genetics OMIM CPPs have an annual incidence of 0.3 per 1 million and outnumber CPCs by a factor of 5:1. They represent 0.3 to 0.6% of all intracranial tumors, with a male to female ration of 1.2:1 (summary by Safaee ...