Papilloma of choroid plexus

General Information (adopted from Orphanet):

Synonyms, Signs: CPC, INCLUDED
CHOROID PLEXUS PAPILLOMA CHOROID PLEXUS CARCINOMA, INCLUDED
CPP
Number of Symptoms 10
OrphanetNr: 2807
OMIM Id: 260500
ICD-10: D33.0
UMLs: C0205770
MeSH: D020288
MedDRA: 10008777
Snomed: 18021007

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000505) Visual impairment Occasional [Orphanet] 297 / 7739
2
 (HPO:0012639) Abnormality of nervous system morphology Very frequent [Orphanet] 25 / 7739
3
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
4
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
5
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
6
 (HPO:0100006) Neoplasm of the central nervous system Very frequent [Orphanet] 34 / 7739
7
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
8
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
9
 (OMIM) Intraventricular choroid plexus papilloma 2 / 7739
10
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 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 ...