Diseases | Genes involved |
Adenomatous polyposis of the colon | APC |
Alagille syndrome (AGS) | JAG1 NOTCH2 |
Alagille-Watson syndrome (AWS) | JAG1 NOTCH2 |
Albinism, Oculocutaneous Albinism type 1 (OCA1) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 C10orf11 |
Alport syndrome and diffuse leiomyomatosis | COL4A3 COL4A5 COL4A6 |
Anal atresia, sacral anomalies, presacral mass (ASP) | MNX1 |
Ancell-Spiegler cylindromas | CYLD |
Angio-encephalo-cutaneous syndrome | GNAQ |
Angio-osteohypertophy syndrome | AGGF1 |
Arteriohepatic dysplasia (AHD) | JAG1 NOTCH2 |
Ataxia telangiectasia (A-T) | ATM |
Ataxia-telangiectasia, variant VI | NBN RAD50 |
Autoimmune lymphoproliferative syndrome | CASP8 CASP10 CTLA4 FAS FASLG PRF1 |
B-K mole syndrome | CDKN2A CDKN2C TP53BP1 |
Bannayan-Riley-Ruvalcaba syndrome | PTEN |
Bannayan-Zonana syndrome | PTEN |
Bazex syndrome | |
Bazex-Dupré-Christol syndrome (BDCS) | |
Beckwith-Wiedemann syndrome | CDKN1C H19 ICR1 TGM1 IGF2 KCNQ1OT1 NSD1 ZNF215 |
Bilateral acoustic neurinoma | NF2 |
Bilateral acoustic neurofibromatosis | NF2 |
Bilateral acoustic schwannomas | NF2 |
Birt-Hogg-Dubé syndrome (BHDS) | FLCN |
Bloom syndrome | BML |
Bone dysplasia with malignant fibrous histiocytoma | |
Bone dysplasia with medullary fibrosarcoma | |
Bourneville disease | TSC1 TSC2 |
Broad thumb hallux syndrome | CREBBP |
Brooke-Fordyce trichoepitheliomas | CYLD |
Brooke-Spiegler syndrome | CYLD |
Bruton's agammaglobulinemia | BTK |
CHS | LYST |
Cardiocutaneous syndrome | BRAF PTPN11 RAF1 |
Carney complex (CNC) | CNC2 PRKAR1A |
Carney triad | |
Carotid body tumors | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
Cartilage-hair hypoplasia (CHH) | RMRP |
Central neurofibromatosis | NF2 |
Cerebral gigantism | NSD1 NFIX |
Chediak-Higashi Syndrome | LYST |
Chemodectomas | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
Cholestasis with peripheral pulmonary stenosis | JAG1 NOTCH2 |
Cockayne syndrome | ERCC6 ERCC8 |
Congenital generalized fibromatosis | NOTCH3 PDGFRB |
Congenital myofibromatosis | NOTCH3 PDGFRB |
Congenital neutropenia | ELANE HAX1 |
Costello syndrome | HRAS |
Cowden disease | PTEN SDHB SDHD |
Currarino syndrome | MNX1 |
Currarino triad | MNX1 |
De Sanctis-Cacchione Syndrome | |
Denys-Drash syndrome (DDS) | WT1 |
Diamond-Blackfan anemia (DBA) | RPL5 RPL11 RPL15 RPL26 RPL35A RPS7 RPS10 RPS17 RPS19 RPS24 RPS26 RPS28 RPS29 TSR2 |
Dianzani autoimmune lymphoproliferative disease (DALD) | PRF1 SPP1 |
Diaphyseal aclasis | EXT1 EXT2 |
Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) | |
Down syndrome | |
Drash syndrome | WT1 |
Dubowitz syndrome | ACTB |
Dyschondrodysplasia with haemangiomas | |
Dyschondroplasia | |
Dyskeratosis congenita (DKC) | DKC1 NHP2 NOP10 PARN RTEL1 TERC TERT TINF2 WRAP53 |
Dysplastic Nevus Syndrome (DNS) | CDK4 CDKN2A MC1R MITF POT1 TERT XRCC3 |
Dysplastic gangliocytoma of the cerebellum | PTEN |
Dysplastic nevus syndrome (DNS) | CDKN2A CDKN2C TP53BP1 |
Eccrine tumours with ectodermal dysplasia. | WNT10A |
Eczema-thrombocytopenia-immunodeficiency syndrome | WAS WIPF1 |
Elattoproteus syndrome | HMGA2 |
Elephant man syndrome | HMGA2 |
Encephalocraniocutaneous lipomatosis | HMGA2 |
Encephalotrigeminal angiomatosis | GNAQ |
Enchondromatosis | ACP5 PTPN11 |
Enchondromatosis with multiple cavernous haemangiomas | |
Epidermodysplasia verruciformis | TMC6 TMC8 |
Epiloia | TSC1 TSC2 |
Exomphalos-macroglossia-gigantism triad | CDKN1C H19 ICR1 TGM1 IGF2 KCNQ1OT1 NSD1 ZNF215 |
FPD/AML | RUNX1 |
Familial /sporadic gastrointestinal stromal tumors (GISTs) | KIT PDGFRA SDHB SDHC |
Familial Juvenile Polyposis Syndrome | BMPR1A SMAD4 |
Familial Myeloproliferative Disorders | TERT GSKIP ATG2B RBBP6 BML BRCA2 BRIP1 CEBPA ELANE FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HAX1 PALB2 RAD51C RUNX1 SLX4 WAS |
Familial adenomatous polyposis (FAP) | APC |
Familial atypical mole-malignant melanoma syndrome (FAMMM) | CDKN2A CDKN2C TP53BP1 |
Familial atypical multiple mole melanoma syndrome (FAMMM) | CDK4 CDKN2A MC1R MITF POT1 TERT XRCC3 |
Familial chronic lymphocytic leukaemia | |
Familial clear cell renal cancer | DIRC1 DIRC2 DIRC3 FHIT RNF139 |
Familial cylindromatosis | CYLD |
Familial glioma | |
Familial glomus tumors | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
Familial hepatic adenomas | HNF1A |
Familial infiltrative fibromatosis. | APC CTNNB1 |
Familial leukemia or MDS associated with monosomy 7 | |
Familial liver adenomatosis | HNF1A |
Familial melanoma | CDK4 CDKN2A MC1R MITF POT1 TERT XRCC3 |
Familial monosomy 7 syndrome | |
Familial myeloproliferative neoplasms | TERT GSKIP ATG2B RBBP6 BML BRCA2 BRIP1 CEBPA ELANE FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HAX1 PALB2 RAD51C RUNX1 SLX4 WAS |
Familial nervous system tumour syndromes | APC CHEK2 MLH1 MHS6 MSH2 NF1 NF2 PMS2 PTCH1 PTCH2 PTEN SDHB SDHD SUFU TP53 TSC1 TSC2 VHL |
Familial nonchromaffin paragangliomas | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
Familial pancreatic cancer | BRCA2 CDKN2A MLH1 PALB2 PALLD PHOX2B PRSS1 STK11 TP53 |
Familial platelet disorder with predisposition to acute myelogenous leukemia | RUNX1 |
Familial platelet disorder with predisposition to myeloid malignancy | RUNX1 |
Familial prostate cancer | ELAC2 MSMB MSR1 RNASEL |
Familial tylosis | AAGAB RHBDF2 |
Familiar breast-ovarian cancer | ATM BARD1 BRIP1 BRCA1 BRCA2 CASP8 CDH1 CHEK2 ESR1 HMMR NQO2 PALB2 PHB PPM1D PTEN RAD51 RAD54L STK11 TP53 XRCC3 |
Fanconi anemia | FANCA FANCB FANCC BRCA2 FANCD2 FANCE FANCF FANCG FANCI BACH1 FANCL FANCM PALB2 RAD51C SLX4 ERCC4 RAD51 BRCA1 UBE2T |
Fanconi pancytopenia | FANCA FANCB FANCC BRCA2 FANCD2 FANCE FANCF FANCG FANCI BACH1 FANCL FANCM PALB2 RAD51C SLX4 ERCC4 RAD51 BRCA1 UBE2T |
Ferguson-Smith disease | TGFBR1 |
Fibrofolliculomas with Trichodiscomas and Acrochordons | FLCN |
Fifth phacomatosis | PTCH1 PTCH2 SUFU |
Focal non epidermolytic palmoplantar keratoderma (NEPPK) with carcinoma of the oesophagus | AAGAB RHBDF2 |
Follicular atrophoderma and basal cell carcinomas | |
Frasier syndrome (FS) | WT1 |
Gardner syndrome | APC |
Generalized lentiginosis | BRAF PTPN11 RAF1 |
Gigantism | HMGA2 |
Glomangioma | GLMN |
Glomus jugulare tumors | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
Glomuvenous malformation (GVM) | GLMN |
Glycogen storage disease type I (GSD I) | AGL G6PC GAA GBE1 GYS1 GYS2 PFKM PHKA2 PHKB PHKG2 PYGL PYGM SLC37A4 |
Gorlin syndrome | PTCH1 PTCH2 SUFU |
Gorlin syndrome (not to be confused with the Gorlin-Goltz/naevoid basal cell carcinoma syndrome) | RET |
Gorlin-Goltz syndrome | PTCH1 PTCH2 SUFU |
Haemangiomatosis chondrodystrophica | |
Hamartomatous Intestinal Polyposis | STK11 |
Hemangiopericytoma | NOTCH3 PDGFRB |
Hemihyperplasia isolated | |
Hepatic ductular paucity, syndromatic | JAG1 NOTCH2 |
Hereditary Non-polyposis Colorectal Cancer, HNPCC | |
Hereditary bone dysplasia with malignant change | |
Hereditary breast cancer | ATM BARD1 BRIP1 BRCA1 BRCA2 CASP8 CDH1 CHEK2 ESR1 HMMR NQO2 PALB2 PHB PPM1D PTEN RAD51 RAD54L STK11 TP53 XRCC3 |
Hereditary desmoid disease. | APC CTNNB1 |
Hereditary diffuse gastric cancer (HDGC) | |
Hereditary erythrocytosis | TERT GSKIP ATG2B RBBP6 BML BRCA2 BRIP1 CEBPA ELANE FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HAX1 PALB2 RAD51C RUNX1 SLX4 WAS |
Hereditary leiomyomatosis and renal cell cancer (HLRCC) | FH |
Hereditary multiple cutaneous leiomyomatosis | FH |
Hereditary multiple exostosis (HME) | EXT1 EXT2 |
Hereditary pancreatic cancer | BRCA2 CDKN2A MLH1 PALB2 PALLD PHOX2B PRSS1 STK11 TP53 |
Hereditary papillary renal cell carcinoma | MET |
Hereditary paraganglioma (PGL) | SDHAF2 SDHB SDHC SDHD MAX MEN2 NF1 SDHA TMEM127 VHL
|
Hereditary prostate cancer | ELAC2 MSMB MSR1 RNASEL |
Hereditary thrombocytosis | TERT GSKIP ATG2B RBBP6 BML BRCA2 BRIP1 CEBPA ELANE FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HAX1 PALB2 RAD51C RUNX1 SLX4 WAS |
Hirschsprung disease with pigmentary anomaly (WS4) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
Holoprosencephaly-diencephalic hamartoblastoma (HDH). | SHH SOX2 |
Holoprosencephaly-diencephalic hamartoblastoma association, Holoprosencephaly-hypothalamic hamartoblastoma, Holoprosencephaly-diencephalic hamartoma | SHH SOX2 |
Hornstein-Knickenberg Syndrome | FLCN |
Howell-Evans syndromes | AAGAB RHBDF2 |
Hoyeraal Hreidarsson syndrome | DKC1 NHP2 NOP10 PARN RTEL1 TERC TERT TINF2 WRAP53 |
Hydrocephalus, costovertebral dysplasia, sprengel anomaly | PTCH1 PTCH2 SUFU |
Hyperparathyroidism-Jaw tumor syndrome (HPT-JT) | CDC73 |
Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature syndrome (IBIDS) | ERCC2 ERCC3 GTF2H5 MPLKIP |
Immunodeficiency, microcephaly, chromosomal instability | NBN RAD50 |
Infantile myofibromatosis | NOTCH3 PDGFRB |
Isolated hemihypertrophy | |
JPS | BMPR1A SMAD4 |
Kast syndrome | |
Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis. | WNT10A |
Klein-Waardenburg syndrome (WS3) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
Klippel Trenaunay syndrome | AGGF1 |
Kostmann syndrome | ELANE HAX1 |
LEOPARD syndrome | BRAF PTPN11 RAF1 |
Levandowsky-Lutz syndrome | TMC6 TMC8 |
Lhermitte-Duclos disease | PTEN |
Li-Fraumeni syndrome | CDKN2A CHEK2 PTEN TP53 |
Louis-Bar syndrome | ATM |
Lynch Syndrome | |
MUTYH associated polyposis | MUTYH |
MUTYH-Associated Polyposis (MAP) | MUTYH |
MVA | BUB1B CEP57 |
MYH associated polyposis | MUTYH |
Macrocephaly, multiple lipomas, hemangiomata | PTEN |
Macrocephaly, pseudopapilledema, multiple hemangiomata | PTEN |
Maffucci syndrome | |
Male Turner syndrome | BRAF KRAS NRAS PTPN11 RAF1 RIT1 SOS1 |
Malignant tumors of the central nervous system associated with familial polyposis of the colon | APC MLH1 MHS6 MSH2 PMS2 |
McCune Albright syndrome | GNAS |
Melanoma and neural system tumour syndrome | CDKN2A |
Melanoma-Astrocytoma syndrome | CDKN2A |
Mesenchymal hamartomatosis | NOTCH3 PDGFRB |
Metaphyseal chondrodysplasia, McKusick type | RMRP |
Microcephaly with normal intelligence, immunodeficiency, lymphoreticular malignancies | NBN RAD50 |
Mosaic variegated aneuploidy syndrome | BUB1B CEP57 |
Mulibrey nanism | TRIM37 |
Multiple angiomas and endochondromas | |
Multiple basal cell nevi, odontogenic keratocysts, skeletal anomalies | PTCH1 PTCH2 SUFU |
Multiple cartilaginous enchondroses | |
Multiple cartlaginous exostoses | EXT1 EXT2 |
Multiple chondromatosis | ACP5 PTPN11 |
Multiple cutaneous and uterine leiomyomatosis (MCUL) | FH |
Multiple enchondromatosis | ACP5 PTPN11 |
Multiple enchondromatosis | |
Multiple endocrine neoplasia type 1 (MEN1) | MEN1 |
Multiple endocrine neoplasia type 2 (MEN2) | RET |
Multiple familial trichoepitheliomas | CYLD |
Multiple glomus tumor | GLMN |
Multiple hamartoma syndrome | PTEN SDHB SDHD |
Multiple hereditary exostoses (MHE) | EXT1 EXT2 |
Multiple hereditary osteochondromatosis | EXT1 EXT2 |
Multiple osteochondromas (MO) | EXT1 EXT2 |
Multiple self-healing squamous epithelioma | TGFBR1 |
Multiple-lentigines syndrome | BRAF PTPN11 RAF1 |
Muscle-liver-brain-eye nanism | TRIM37 |
Naevoid basal cell carcinoma syndrome (NBCS) | PTCH1 PTCH2 SUFU |
Nephropathy, Wilms tumor, and genital anomalies | WT1 |
Neurofibromatosis type 1 (NF1) | NF1 |
Neurofibromatosis type 2 (NF2) | NF2 |
Nijmegen breakage syndrome | NBN RAD50 |
Noonan syndrome | BRAF KRAS NRAS PTPN11 RAF1 RIT1 SOS1 |
Noonan-like syndrome with nasal papillomata | HRAS |
Oculocutaneous Albinism | TYR OCA2 TYRP1 SLC45A2 SLC24A5 C10orf11 |
Oculocutaneous Albinism type 2 (OCA2) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 C10orf11 |
Oculocutaneous Albinism type 3 (OCA3) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 C10orf11 |
Oculocutaneous Albinism type 4 (OCA4) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 C10orf11 |
Oculocutaneous Albinism type 5 (OCA5) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 C10orf11 |
Oculocutaneous Albinism type 6 (OCA6) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 C10orf11 |
Oculocutaneous Albinism type 7 (OCA7) | TYR OCA2 TYRP1 SLC45A2 SLC24A5 C10orf11 |
Ollier disease | |
Paget's disease of bone | SQSTM1 |
Pallister Hall syndrome (PHS) | GLI3 |
Perheentupa syndrome | TRIM37 |
Pericardial constriction and growth failure | TRIM37 |
Peripheral neurofibromatosis | NF1 |
Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism) | DIS3L2 |
Peutz-Jeghers syndrome | STK11 |
Piebaldism | KIT KITLG SNAI2 |
Poikiloderma atrophicans and cataract | RECQL4 |
Polyps-and-Spots Syndrome | STK11 |
Porokeratosis of Mibelli | -- |
Prader Willi syndrome | NDN SNRPN |
Progressive cardiomyopathic lentiginosis | BRAF PTPN11 RAF1 |
Proteus syndrome | HMGA2 |
Pseudo-Turner syndrome | BRAF KRAS NRAS PTPN11 RAF1 RIT1 SOS1 |
Retinoblastoma (hereditary predisposition) | RB1 |
Rhabdoid predisposition syndrome | SMARCA4 SMARCB1 |
Riley-Smith syndrome | PTEN |
Rombo syndrome | |
Rothmund-Thomson syndrome (RTS) | RECQL4 |
Rubinstein-Taybi syndrome (RTS) | CREBBP |
Ruvalcaba-Myhre-Smith syndrome | PTEN |
Sacral defect with anterior meningocoele | MNX1 |
Schöpf-Schulz-Passarge syndrome (SSPS) | WNT10A |
Schinzel-Giedion midface retraction syndrome | SETBP1 |
Schinzel-Giedion syndrome | SETBP1 |
Schwannomatosis | SMARCB1 |
Seemanova syndrome II | NBN RAD50 |
Severe chronic neutropenia (SCN) | ELANE HAX1 |
Shan-Waardenburg syndrome (WS4) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
Shwachman-Diamond syndrome (SDS) | SBDS |
Signet ring carcinoma or isolated cell type carcinoma. | |
Silver Russell syndrome | |
Simpson-Golabi-Behmel syndrome | GPC3 OFD1 |
Sipple syndrome | RET |
Site-specific breast cancer | ATM BARD1 BRIP1 BRCA1 BRCA2 CASP8 CDH1 CHEK2 ESR1 HMMR NQO2 PALB2 PHB PPM1D PTEN RAD51 RAD54L STK11 TP53 XRCC3 |
Sotos syndrome (SOS) | NSD1 NFIX |
Stiff-man syndrome | AMPH GAD2 GPHN |
Stiff-person syndrome | AMPH GAD2 GPHN |
Sturge Weber syndrome | GNAQ |
Trichothiodystrophy (TTD) | ERCC2 ERCC3 GTF2H5 MPLKIP |
Trisomy 21 | |
Tuberous sclerosis (TSC) | TSC1 TSC2 |
Turban tumor syndrome | CYLD |
Turcot syndrome | APC MLH1 MHS6 MSH2 PMS2 |
Tylosis oesophageal cancer | AAGAB RHBDF2 |
Tyrosinase-Negative Albinism | TYR OCA2 TYRP1 SLC45A2 SLC24A5 C10orf11 |
Tyrosinase-Positive Albinism | TYR OCA2 TYRP1 SLC45A2 SLC24A5 C10orf11 |
Variegated aneuploidy related to premature centromere division (PCD) | BUB1B CEP57 |
Vascular leiomyoma of the newborn | NOTCH3 PDGFRB |
Von Hippel-Lindau | VHL CCND1 |
Von Recklinghausen neurofibromatosis | NF1 |
WAGR (Wilms' tumor/aniridia/genitourinary anomalies/mental retardation syndrome) | PAX6 WT1 |
Waardenburg syndrome (WS) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
Waardenburg syndrome variant (WS4) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
Waardenburg syndrome with upper limb anomalies (WS3) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
Waardenburg-Hirschsprung disease (WS4) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
Weaver syndrome | EED EZH2 NSD |
Wermer's syndrome | MEN1 |
Werner syndrome | WRN |
White forelock with malformations (WS3) | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 |
Wilms tumor and pseudo- or true hermaphroditism | WT1 |
Wiskott-Aldrich Syndrome (WAS) | WAS WIPF1 |
X-linked agammaglobulinemia (XLA) | BTK |
X-linked lymphoproliferative disease (XLP) | SH2D1A XIAP |
X-linked thrombocytopenia (THC1/XLT) | |
Xeroderma pigmentosum | XPA XPB XPC XPE XPF XPG ERCC2 EERCC3 ERCC4 ERCC5 POLH |
Zinsser Cole Engeman syndrome | DKC1 NHP2 NOP10 PARN RTEL1 TERC TERT TINF2 WRAP53 |
osteitis deformans | SQSTM1 |
venous malformation with glomus cells (VMGLOM) | GLMN |
von Gierke disease | AGL G6PC GAA GBE1 GYS1 GYS2 PFKM PHKA2 PHKB PHKG2 PYGL PYGM SLC37A4 |