| 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 |
| 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 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 | 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 |
| 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 |
