BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBRAL ANEURYSM-CIRRHOSIS SYNDROME
Number of Symptoms 10
OrphanetNr:
OMIM Id: 210050
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:0001250) Seizures 1245 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0007238) Nonarteriosclerotic cerebral calcification 1 / 7739
4
 (HPO:0001394) Cirrhosis 102 / 7739
5
 (HPO:0001399) Hepatic failure 80 / 7739
6
 (HPO:0001409) Portal hypertension 39 / 7739
7
 (HPO:0004322) Short stature 1232 / 7739
8
 (HPO:0007029) Cerebral berry aneurysm 1 / 7739
9
 (HPO:0002097) Emphysema 40 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: