TERATOMA, PINEAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 273120
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000103) Polyuria 60 / 7739
2
 (HPO:0009792) Teratoma 7 / 7739
3
 (HPO:0000651) Diplopia 37 / 7739
4
 (HPO:0000639) Nystagmus 555 / 7739
5
 (HPO:0001959) Polydipsia 43 / 7739
6
 (HPO:0001269) Hemiparesis 51 / 7739
7
 (HPO:0002514) Cerebral calcification 89 / 7739
8
 (HPO:0001438) Abnormality of the abdomen 28 / 7739
9
 (HPO:0002039) Anorexia 62 / 7739
10
 (OMIM) Abnormal intracranial calcification 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Pineal teratoma 1 / 7739
13
 (OMIM) Upward gaze palsy 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: