Disease #01618 (CHAC (choreoacanthocytosis (CHAC)), OMIM:200150)

Official abbreviation CHAC
Name choreoacanthocytosis (CHAC)
OMIM ID 200150
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 12
Phenotype entries for this disease 12
Associated with 1 gene VPS13A
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

12 entries on 1 page. Showing entries 1 - 12.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00248472 FamCHAC3 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 2-generation family, 2 affected brothers (deceased), unaffected heterozygous carrier parents M no - - - 0 - - CHAC see paper; ... VPS13A VPS13A 2 2 Johan den Dunnen
00248473 FamCHAC6 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - CHAC see paper; ... VPS13A VPS13A 1 1 Johan den Dunnen
00248474 FamCHAC2 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … VPS13A VPS13A 1 1 Johan den Dunnen
00248475 FamCHAC1 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … VPS13A VPS13A 2 1 Johan den Dunnen
00248476 FamCHAC4 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … VPS13A VPS13A 1 1 Johan den Dunnen
00248477 FamCHAC5 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … VPS13A VPS13A 2 1 Johan den Dunnen
00248478 FamCHAC7 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … VPS13A VPS13A 2 1 Johan den Dunnen
00248479 FamCHAC8 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … VPS13A VPS13A 1 1 Johan den Dunnen
00248480 FamCHAC9 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … VPS13A VPS13A 1 1 Johan den Dunnen
00248481 FamCHAC10 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … VPS13A VPS13A 1 1 Johan den Dunnen
00248482 FamCHAC11 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … VPS13A VPS13A 2 1 Johan den Dunnen
00326816 174468 - - M ? Germany - - 0 - - CHAC (+) Chorea,(+) Incoordination,(+) Clumsiness,(+) Involuntary movements,(+) Craniofacial dystonia,(+) Bilateral tonic-clonic seizure with generalized onset,(+) Lingual dystonia,(+) Motor seizure VPS13A VPS13A 2 1 Andreas Laner
Legend   How to query