RGDs registry under the 'Cancer disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | Acute lymphoid leukemia |
•Acute lymphocytic leukemia •Acute lymphoblastic leukemia •Precursor lymphoid neoplasm |
Blood and Bone marrow |
FLT3 fms related receptor tyrosine kinase 3 ETV6 ETS variant transcription factor 6 PAX5 paired box 5 IKZF1 IKAROS family zinc finger 1 CDKN2A cyclin dependent kinase inhibitor 2A |
PubMed | Reports |
| 2 | Bannayan-Riley-Ruvalcaba syndrome | Intestinal polyposis syndrome |
PTEN phosphatase and tensin homolog |
PubMed | Reports | |
| 3 | Lynch syndrome | Colorectal cancer |
MSH2 mutS homolog 2 MSH6 mutS homolog 6 PMS2 PMS1 homolog 2, mismatch repair system component EPCAM epithelial cell adhesion molecule MLH1 mutL homolog 1 MLH3 mutL homolog 3 RB1 RB transcriptional corepressor 1 PALB2 partner and localizer of BRCA2 ATM ATM serine/threonine kinase CHEK2 checkpoint kinase 2 |
PubMed | Reports | |
| 4 | Multiple endocrine neoplasia, type 1 |
•Wermer syndrome •Multiple endocrine neoplasia •Insulinoma |
Adrenal gland neoplasm |
MEN1 menin 1 CDC73 cell division cycle 73 |
PubMed | Reports |
| 5 | Von Hippel-Lindau syndrome |
•Von Hippel-Lindau disease |
Neurocutaneous syndrome |
VHL von Hippel-Lindau tumor suppressor |
PubMed | Reports |
| 6 | Familial adenomatous polyposis |
•MUTYH-related attenuated familial adenomatous polyposis •MUTYH-associated polyposis |
Colorectal cancer |
APC APC regulator of WNT signaling pathway MUTYH mutY DNA glycosylase MSH3 mutS homolog 3 NTHL1 nth like DNA glycosylase 1 STK11 serine/threonine kinase 11 |
PubMed | Reports |
| 7 | Adrenocortical carcinoma |
•Adrenal cortex cancer |
Adrenal gland neoplasm |
TP53 tumor protein p53 |
PubMed | Reports |
| 8 | Alveolar soft part sarcoma |
•ASPS •Alveolar soft tissue sarcoma |
Soft tissue sarcoma |
ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing |
PubMed | Reports |
| 9 | Cholangiocarcinoma | Liver cancer |
CXCR1 C-X-C motif chemokine receptor 1 PTGS2 prostaglandin-endoperoxide synthase 2 |
PubMed | Reports | |
| 10 | Chondrosarcoma |
•CHS |
Bone cancer |
EXT1 exostosin glycosyltransferase 1 |
PubMed | Reports |
| 11 | Ependymoma |
•Classic ependymoma |
Neuroepithelial neoplasm |
MEN1 menin 1 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
PubMed | Reports |
| 12 | Gastrointestinal stroma tumor |
•Gastrointestinal stromal sarcoma |
Intestinal tumor |
PDGFRA platelet derived growth factor receptor alpha KIT KIT proto-oncogene, receptor tyrosine kinase SDHB succinate dehydrogenase complex iron sulfur subunit B SDHC succinate dehydrogenase complex subunit C SDHA succinate dehydrogenase complex flavoprotein subunit A |
PubMed | Reports |
| 13 | Endometrial stromal sarcoma |
•Endometrioid stromal sarcoma |
Uterine cancer |
NUTM2A NUT family member 2A NUTM2B NUT family member 2B JAZF1 JAZF zinc finger 1 SUZ12 SUZ12 polycomb repressive complex 2 subunit YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon |
PubMed | Reports |
| 14 | Desmoid disease |
•Desmoid tumor •Fibromatosis, familial infiltrative |
Soft tissue sarcoma |
APC APC regulator of WNT signaling pathway |
PubMed | Reports |
| 15 | Familial medullary thyroid carcinoma |
•Medullary thyroid carcinoma •Medullary thyroid cancer |
Adenocarcinoma |
RET ret proto-oncogene NTRK1 neurotrophic receptor tyrosine kinase 1 |
PubMed | Reports |
| 16 | Glioblastoma |
•Gliosarcoma (histologic variant) •Glioblastoma multiforme •GBM |
Neuroepithelial neoplasm |
IDH1 isocitrate dehydrogenase (NADP(+)) 1 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha EGFR epidermal growth factor receptor BRAF B-Raf proto-oncogene, serine/threonine kinase CREBBP CREB binding protein TP53 tumor protein p53 ATM ATM serine/threonine kinase MSH2 mutS homolog 2 SLX4 SLX4 structure-specific endonuclease subunit DNMT3A DNA methyltransferase 3 alpha |
PubMed | Reports |
| 17 | Uveal melanoma |
•Intraocular melanoma •Melanoma of the Uvea |
Ocular cancer |
GNAQ G protein subunit alpha q BAP1 BRCA1 associated protein 1 |
PubMed | Reports |
| 18 | Synovial sarcoma | Soft tissue sarcoma |
SSX2 SSX family member 2 |
PubMed | Reports | |
| 19 | Non-small cell lung carcinoma |
•Non-small cell lung cancer |
Lung cancer |
BRAF B-Raf proto-oncogene, serine/threonine kinase IRF1 interferon regulatory factor 1 ERBB2 erb-b2 receptor tyrosine kinase 2 KRAS KRAS proto-oncogene, GTPase EGFR epidermal growth factor receptor PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NRAS NRAS proto-oncogene, GTPase DDR2 discoidin domain receptor tyrosine kinase 2 MAP2K1 mitogen-activated protein kinase kinase 1 ALK ALK receptor tyrosine kinase ARAF A-Raf proto-oncogene, serine/threonine kinase STK11 serine/threonine kinase 11 NOTCH1 notch receptor 1 |
PubMed | Reports |
| 20 | Sezary syndrome |
•Sézary syndrome |
Skin and Blood cancer |
BCL10 BCL10 immune signaling adaptor |
PubMed | Reports |
| 21 | Schwannomatosis |
•Neurilemmomatosis •Neurofibromatosis •Neurofibroma •Schwannoma |
Neuroepithelial neoplasm |
NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 LZTR1 leucine zipper like post translational regulator 1 |
PubMed | Reports |
| 22 | Primary myelofibrosis |
•Idiopathic myelofibrosis •Agnogenic myeloid metaplasia •Myelofibrosis, somatic •Osteomyelofibrosis |
Myeloid hemopathy |
SH2B3 SH2B adaptor protein 3 CALR calreticulin |
PubMed | Reports |
| 23 | Pilomatrixoma |
•Epithelioma calcificans of Malherbe •Pilomatricoma |
Skin tumor or hamartoma |
CTNNB1 catenin beta 1 |
PubMed | Reports |
| 24 | Pediatric hepatocellular carcinoma |
•Childhood hepatocellular carcinoma •Childhood-onset hepatocellular carcinoma •Pediatric HCC |
Liver cancer |
MET MET proto-oncogene, receptor tyrosine kinase |
PubMed | Reports |
| 25 | Parathyroid carcinoma |
•CDC73-Related Parathyroid Carcinoma •Parathyroid cancer •Parathyroid gland carcinoma •Parathyroid adenoma |
Parathyroid tumor |
CDC73 cell division cycle 73 |
PubMed | Reports |
| 26 | Choroid plexus papilloma |
•Papilloma of choroid plexus •CPP |
Tumor of neuroepithelial tissue |
TP53 tumor protein p53 |
PubMed | Reports |
| 27 | Papillary renal cell carcinoma |
•Papillary renal cell adenocarcinom |
Renal tumor |
VHL von Hippel-Lindau tumor suppressor MET MET proto-oncogene, receptor tyrosine kinase SDHB succinate dehydrogenase complex iron sulfur subunit B PTEN phosphatase and tensin homolog ERBB2 erb-b2 receptor tyrosine kinase 2 ARAF A-Raf proto-oncogene, serine/threonine kinase BRAF B-Raf proto-oncogene, serine/threonine kinase PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha RHEB Ras homolog, mTORC1 binding ELOC elongin C TP53 tumor protein p53 MTOR mechanistic target of rapamycin kinase |
PubMed | Reports |
| 28 | Bone osteosarcoma |
•Osteosarcoma •Osteogenic sarcoma |
Bone cancer |
CHEK2 checkpoint kinase 2 TSC2 TSC complex subunit 2 |
PubMed | Reports |
| 29 | Oligodendroglioma | Tumor of neuroepithelial tissue |
CIC capicua transcriptional repressor |
PubMed | Reports | |
| 30 | Neuroblastoma |
•ALK-Related Neuroblastic Tumor Susceptibility |
Neuroepithelial neoplasm |
KIF1B kinesin family member 1B PHOX2B paired like homeobox 2B ALK ALK receptor tyrosine kinase FGFR1 fibroblast growth factor receptor 1 MYC MYC proto-oncogene, bHLH transcription factor BRCA2 BRCA2 DNA repair associated SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 PTCH1 patched 1 |
PubMed | Reports |
| 31 | Multiple myeloma |
•Kahler disease • Medullary plasmacytoma • Myelomatosis • Plasma cell myeloma •Plasma cell dyscrasia |
Lymphocytic neoplasm |
FGFR3 fibroblast growth factor receptor 3 BRAF B-Raf proto-oncogene, serine/threonine kinase TP53 tumor protein p53 TRAF5 TNF receptor associated factor 5 CDKN2C cyclin dependent kinase inhibitor 2C BARD1 BRCA1 associated RING domain 1 HDAC4 histone deacetylase 4 DNMT3A DNA methyltransferase 3 alpha TET3 tet methylcytosine dioxygenase 3 CRBN cereblon MST1R macrophage stimulating 1 receptor BAP1 BRCA1 associated protein 1 TET2 tet methylcytosine dioxygenase 2 FAT1 FAT atypical cadherin 1 IL7R interleukin 7 receptor SGK1 serum/glucocorticoid regulated kinase 1 LATS1 large tumor suppressor kinase 1 H3C1 H3 clustered histone 1 H1-4 H1.4 linker histone, cluster member H2AC16 H2A clustered histone 16 H2AC17 H2A clustered histone 17 KMT2C lysine methyltransferase 2C RXRA retinoid X receptor alpha YAP1 Yes1 associated transcriptional regulator ATM ATM serine/threonine kinase SH2B3 SH2B adaptor protein 3 NCOR2 nuclear receptor corepressor 2 FLT3 fms related receptor tyrosine kinase 3 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease NKX2-1 NK2 homeobox 1 ARID4A AT-rich interaction domain 4A MGA MAX dimerization protein MGA CREBBP CREB binding protein CYLD CYLD lysine 63 deubiquitinase NF1 neurofibromin 1 TCF3 transcription factor 3 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ERF ETS2 repressor factor SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 AURKA aurora kinase A BCORL1 BCL6 corepressor like 1 EIF1AX eukaryotic translation initiation factor 1A X-linked KDM5C lysine demethylase 5C P2RY8 P2Y receptor family member 8 |
PubMed | Reports |
| 32 | Muir-Torré syndrome |
•Multiple keratoacanthoma •Muir-Torre syndrome |
Colorectal cancer |
MSH2 mutS homolog 2 MLH1 mutL homolog 1 |
PubMed | Reports |
| 33 | Mantle cell lymphoma |
•Mantle zone lymphoma |
Lymphoid hemopathy |
ATM ATM serine/threonine kinase |
PubMed | Reports |
| 34 | Mucosa-associated lymphoma |
•MALT lymphoma •MALToma •Mucosa-associated lymphatic tissue lymphoma •Mucosa-associated lymphoid tissue lymphoma |
Lymphoid hemopathy |
BCL10 BCL10 immune signaling adaptor |
PubMed | Reports |
| 35 | Waldenstrom macroglobulinemia |
•Macroglobulinemia, Waldenstrom, 1 •Waldenström macroglobulinemia •Waldenstrom's Macroglobulinemia |
Lymphoid hemopathy |
MYD88 MYD88 innate immune signal transduction adaptor |
PubMed | Reports |
| 36 | Hereditary breast ovarian cancer syndrome |
•Familial susceptibility to Breast-Ovarian cancer •BRCA-related cancer •Breast-ovarian cancer, familial, susceptibility •Breast and ovarian cancer •Hereditary breast and ovarian cancer •Hereditary breast and ovarian cancer syndrome •Hereditary breast and ovarian cancer syndrome (HBOC) •Breast-ovarian cancer, familial, susceptibility to, 1 •Breast-ovarian cancer, familial, susceptibility to, 2 |
Breast and Ovarian cancer |
BRCA2 BRCA2 DNA repair associated BRCA1 BRCA1 DNA repair associated ATM ATM serine/threonine kinase RAD51B RAD51 paralog B BRIP1 BRCA1 interacting helicase 1 ABRAXAS1 abraxas 1, BRCA1 A complex subunit NBN nibrin PALB2 partner and localizer of BRCA2 CHEK2 checkpoint kinase 2 RAD51D RAD51 paralog D TP53 tumor protein p53 FANCM FA complementation group M XRCC2 X-ray repair cross complementing 2 VRK1 VRK serine/threonine kinase 1 FAN1 FANCD2 and FANCI associated nuclease 1 NF1 neurofibromin 1 MSH2 mutS homolog 2 MLH1 mutL homolog 1 RAD50 RAD50 double strand break repair protein RINT1 RAD50 interactor 1 RECQL RecQ like helicase BLM BLM RecQ like helicase RAD51C RAD51 paralog C EXO1 exonuclease 1 MUTYH mutY DNA glycosylase RAD54L RAD54 like CTNNA2 catenin alpha 2 MITF melanocyte inducing transcription factor SLC34A2 solute carrier family 34 member 2 CTNNA1 catenin alpha 1 DROSHA drosha ribonuclease III PLK2 polo like kinase 2 RIPK1 receptor interacting serine/threonine kinase 1 PTCH1 patched 1 ERCC6 ERCC excision repair 6, chromatin remodeling factor KRAS KRAS proto-oncogene, GTPase LCP1 lymphocyte cytosolic protein 1 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 BCAR1 BCAR1 scaffold protein, Cas family member FLCN folliculin FLNA filamin A BARD1 BRCA1 associated RING domain 1 FANCD2 FA complementation group D2 PNPT1 polyribonucleotide nucleotidyltransferase 1 |
PubMed | Reports |
| 37 | Acute megakaryoblastic leukemia |
•Acute megakaryocytic leukemia •Megakaryoblastic leukemia acute •AMKL •AML M7 •Acute myeloid leukemia M7 |
Blood cancer |
GATA1 GATA binding protein 1 TP53 tumor protein p53 JAK3 Janus kinase 3 JAK1 Janus kinase 1 SETD2 SET domain containing 2, histone lysine methyltransferase RAD21 RAD21 cohesin complex component CTCF CCCTC-binding factor SUZ12 SUZ12 polycomb repressive complex 2 subunit SRSF2 serine and arginine rich splicing factor 2 |
PubMed | Reports |
| 38 | Li-Fraumeni syndrome |
•Sarcoma family syndrome of Li and Fraumeni |
CHEK2 checkpoint kinase 2 TP53 tumor protein p53 |
PubMed | Reports | |
| 39 | Cowden Syndrome |
•Multiple hamartoma syndrome •Cowden disease •Cowden's disease •Cowden's syndrome |
PTEN phosphatase and tensin homolog AKT1 AKT serine/threonine kinase 1 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha SDHD succinate dehydrogenase complex subunit D EGFR epidermal growth factor receptor SDHB succinate dehydrogenase complex iron sulfur subunit B SEC23B SEC23 homolog B, COPII coat complex component |
PubMed | Reports |
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