|
|
Search syndromes by name or gene
Searching for: PC
| Syndrome | Synonym | Genes | |
|
Familial Adenomatous Polyposis
|
FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,
|
APC
| Show details |
|
Hereditary Desmoid Disease
|
Familial Infiltrative Mesenteric Fibromatosis
|
APC
| Show details |
|
Hereditary Hemorrhagic Telangiectasia
|
HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,
|
ACVRL1/ALK1, ENG, SMAD4/DPC4
| Show details |
|
Hereditary Prostate Cancer
|
HPC
|
BRCA2, CAPB/PCBC/EPHB2, EHBP1/HPC12, ELAC2/HPC2, HNF1B/HPC11, HOXB13, HPC1/HPT1/PRCA1/RNASEL, HPC10, HPC14, HPC15, HPC3, HPC4, HPC5, HPC6, HPC7, HPC9, HPCX1, HPCX2, MSMB/HPC13, PCA3/DD3, PCAP/HPC8
| Show details |
|
Juvenile Polyposis
|
incl.: Juvenile Polyposis of the Stomach
|
BMPR1A, ENG, PTEN, SMAD4/DPC4
| Show details |
|
Lynch syndrome
|
Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS
|
EPCAM/TACSTD1, MLH1, MSH2, MSH6, PMS2
| Show details |
|
Porphyria Cutanea Tarda, Type II
|
PCT-II
|
UROD
| Show details |
|
Simpson-Golabi-Behmel syndrome
|
SGBS
|
GPC3
| Show details |
|
Turcot syndrome
|
Brain tumor-colorectal polyp(osis) syndrome
|
APC, MLH1, MSH2, MSH6, PMS2
| Show details |
|
Xeroderma Pigmentosum
|
incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV
|
DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
| Show details |
|