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Search syndromes by name or gene
Searching for: CS
| Syndrome | Synonym | Genes | |
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Apert syndrome
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Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.
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FGFR2
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Basal Cell Nevus syndrome
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Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS
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PTCH, PTCH2
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Cardiofaciocutaneous syndrome
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CFC, CFCS
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BRAF, KRAS, MEK1/MAP2K1, MEK2/MAP2K2
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Constitutional Mismatch Repair Deficiency Syndrome
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CMMR-D, Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III
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MLH1, MSH2, MSH6, PMS2
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Cowden syndrome
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CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome
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ATK1, KILLIN, PIK3CA, PTEN, SDHB, SDHD
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Lynch syndrome
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Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS
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EPCAM/TACSTD1, MLH1, MSH2, MSH6, PMS2
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Russell-Silver syndrome
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Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism
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CSH1, GRB10, RSS#
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