Disease #00288

Official abbreviation IBGC-5
Name calcification, basal ganglia, idiopathic, type 5 (IBGC-5)
OMIM ID 615483
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 9
Phenotype entries for this disease 8
Associated with 1 gene PDGFB
Associated tissues -
Disease features -
Remarks -


Individuals

9 entries on 1 page. Showing entries 1 - 9.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00004120 - PubMed: Kostic 2011, PubMed: Keller 2013 3-generation family, 6 affecteds (2F, 4M) - no Serbia - - 0 - - IBGC-5 - CELA1, PDGFB CELA1, PDGFB 2 6 Johan den Dunnen
00004121 - PubMed: Keller 2013 3-generation family, affected father and twin sons M no Brazil - - 0 - - IBGC-5 - PDGFB PDGFB 1 3 Johan den Dunnen
00004122 - PubMed: Keller 2013 4-generation family, 9 affecteds (3F, 6M) - no - - - 0 - - IBGC-5 - PDGFB, PDGFRB, SLC20A2 PDGFB 1 9 Johan den Dunnen
00004123 - PubMed: Keller 2013 4-generation family, 3 affecteds (3F), 1 carrier with unknown phenotype F no - - - 0 - - IBGC-5 - PDGFB, PDGFRB, SLC20A2 PDGFB 1 4 Johan den Dunnen
00004124 - PubMed: Keller 2013 3-generation family, 5 affecteds (3F, 2M) - no - - - 0 - - IBGC-5 - PDGFB, PDGFRB, SLC20A2 PDGFB 1 5 Johan den Dunnen
00004125 - PubMed: Keller 2013 2-generation family, 4 affecteds (2F, 2M) - no - - - 0 - - IBGC-5 - PDGFB, PDGFRB, SLC20A2 PDGFB 1 4 Johan den Dunnen
00019833 - - - - - France - - 0 - - IBGC-5 - PDGFB PDGFB 1 1 Gael Nicolas
00019834 - - - - - France - - 0 - - IBGC-5 - PDGFB PDGFB 1 1 Gael Nicolas
00019835 - - - - - France - - 0 - - IBGC-5 - PDGFB PDGFB 1 1 Gael Nicolas
Legend