Disease #00583 (FCTCS (telangiectasia, cutaneous, and cancer syndrome, familial), OMIM:614564)

Official abbreviation FCTCS
Name telangiectasia, cutaneous, and cancer syndrome, familial
OMIM ID 614564
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ATR
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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     
00249444 - - 5-generation family, 24 affecteds - - United States white - 0 - - FCTCS telangiectases, thinning lateral part eyebrows, patchy alopecia (prominent telangiectases skin), thin dental enamel, dental caries (primary and secondary dentition), oropharyngeal cancer (third decade of life or later) ATR ATR 1 24 LOVD
Legend   How to query