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Search syndromes by name or gene
Searching for: TAT
Syndrome | Synonym | Genes | |
Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation
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Familial AML
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CEBPA
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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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Fanconi Anemia FILE UNDER CONSTRUCTION
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Pancytopenia Dysmelia, FA (several complementation groups)
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BRCA2, FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG/XRCC9, FANCI, FANCJ, FANCL, FANCM, FANCP/SLX4, PALB2/FANCN
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Fanconi Anemia type D1, bi-allelic BRCA2 mutations
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FANCD1
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BRCA2
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Fanconi Anemia type N
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FANCN, bi-allelic PALB2 mutations
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PALB2/FANCN
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Hereditary Prostate Cancer
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HPC
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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
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HRAS mutation somatic mosaicism
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HRAS
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Hyperimmunoglobulin E Recurrent Infection Syndrome
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HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive
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STAT3
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Macrocephaly-Cutis Marmorata syndrome
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Megalencephaly-Cutis Marmorata Telangiectatica Congenita, M-CMTC, Macrocephaly-Capillary malformation, M-CM
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Medulloblastoma, associated with Germline SUFU Mutation
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SUFU
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Mulvihill-Smith syndrome
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Progeroid Short Stature with Pigmented Nevi
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Paraganglioma and Somatostatinoma associated with Polycythemia
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EPAS1 / HIF2A
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Porokeratosis
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incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis
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DSAP2, SART3
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Prostate Cancer, Familial Clustering of
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Punctate Palmoplantar Keratoderma
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Buschke-Fischer-Brauer disease, Keratosis Palmoplantaris Papulosa
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TERT Mutation-Associated Haematological Disorders
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TERT
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