List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
View information by inheritance mode
| S.No. | Genetic Disorders Modes of inheritance |
Category | Gene symbol | Indian context |
Links |
| 111 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Autosomal recessive |
Metabolic disorders |
GFM1 G elongation factor mitochondrial 1 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial MRPL44 mitochondrial ribosomal protein L44 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 112 | Hereditary breast ovarian cancer syndrome Autosomal dominant |
Cancer disorders |
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 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 113 | Hereditary factor VIII deficiency disease X-linked dominant |
Blood disorders |
F8 coagulation factor VIII F9 coagulation factor IX |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 114 | Hereditary hemorrhagic telangiectasia Autosomal dominant |
Blood disorders |
ENG endoglin ACVRL1 activin A receptor like type 1 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 115 | Hereditary lymphedema type I Autosomal dominant |
Cardiovascular disorders |
FLT4 fms related receptor tyrosine kinase 4 EPHB4 EPH receptor B4 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 116 | Hereditary pancreatitis Autosomal dominant |
Gastrointestinal disorders |
PRSS1 serine protease 1 SPINK1 serine peptidase inhibitor Kazal type 1 CFTR CF transmembrane conductance regulator CTRC chymotrypsin C CPA1 carboxypeptidase A1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 117 | Hereditary pulmonary alveolar proteinosis Autosomal recessive |
Respiratory disorders |
SFTPB surfactant protein B SFTPC surfactant protein C ABCA3 ATP binding cassette subfamily A member 3 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 118 | Hereditary spastic paraplegia Autosomal dominant, Autosomal recessive, X-linked dominant |
Neurodegenerative disorders |
AP5Z1 adaptor related protein complex 5 subunit zeta 1 ZFYVE26 zinc finger FYVE-type containing 26 FA2H fatty acid 2-hydroxylase SPG11 SPG11 vesicle trafficking associated, spatacsin WASHC5 WASH complex subunit 5 ZFYVE27 zinc finger FYVE-type containing 27 REEP1 receptor accessory protein 1 GJC2 gap junction protein gamma 2 NIPA1 NIPA magnesium transporter 1 ATL1 atlastin GTPase 1 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin SPAST spastin CYP7B1 cytochrome P450 family 7 subfamily B member 1 SLC33A1 solute carrier family 33 member 1 PNPLA6 patatin like phospholipase domain containing 6 KIF5A kinesin family member 5A SPG7 SPG7 matrix AAA peptidase subunit, paraplegin PLP1 proteolipid protein 1 HSPD1 heat shock protein family D (Hsp60) member 1 KIF1A kinesin family member 1A AP4M1 adaptor related protein complex 4 subunit mu 1 RTN2 reticulon 2 AP4E1 adaptor related protein complex 4 subunit epsilon 1 ERLIN2 ER lipid raft associated 2 CYP2U1 cytochrome P450 family 2 subfamily U member 1 MTRFR mitochondrial translation release factor in rescue DDHD1 DDHD domain containing 1 TECPR2 tectonin beta-propeller repeat containing 2 DDHD2 DDHD domain containing 2 VPS37A VPS37A subunit of ESCRT-I GBA2 glucosylceramidase beta 2 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 REEP2 receptor accessory protein 2 NT5C2 5'-nucleotidase, cytosolic II TFG trafficking from ER to golgi regulator AMPD2 adenosine monophosphate deaminase 2 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 MAG myelin associated glycoprotein AP4B1 adaptor related protein complex 4 subunit beta 1 CPT1C carnitine palmitoyltransferase 1C IBA57 iron-sulfur cluster assembly factor IBA57 SACS sacsin molecular chaperone ALDH18A1 aldehyde dehydrogenase 18 family member A1 ERLIN1 ER lipid raft associated 1 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial GAD1 glutamate decarboxylase 1 KY kyphoscoliosis peptidase DSTYK dual serine/threonine and tyrosine protein kinase WDR48 WD repeat domain 48 SETX senataxin BICD2 BICD cargo adaptor 2 KIF1C kinesin family member 1C SETBP1 SET binding protein 1 SLC16A2 solute carrier family 16 member 2 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 PTPN23 protein tyrosine phosphatase non-receptor type 23 C19orf12 chromosome 19 open reading frame 12 POLG DNA polymerase gamma, catalytic subunit SPG21 SPG21 abhydrolase domain containing, maspardin ALS2 alsin Rho guanine nucleotide exchange factor ALS2 L1CAM L1 cell adhesion molecule PGAP1 post-GPI attachment to proteins inositol deacylase 1 TCF4 transcription factor 4 FGG fibrinogen gamma chain COL3A1 collagen type III alpha 1 chain USP8 ubiquitin specific peptidase 8 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 119 | Hereditary spherocytosis Autosomal dominant, Autosomal recessive |
Blood disorders |
ANK1 ankyrin 1 SPTB spectrin beta, erythrocytic SPTA1 spectrin alpha, erythrocytic 1 EPB42 erythrocyte membrane protein band 4.2 SLC4A1 solute carrier family 4 member 1 (Diego blood group) GPI glucose-6-phosphate isomerase |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 120 | Hirayama disease |
Neuromuscular disorders |
CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 CEP126 centrosomal protein 126 |
Reports Updated as of May 24, 2023 |
PubMed |