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 |
| 61 | Cowden Syndrome Autosomal dominant |
Cancer disorders |
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 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 62 | Cutis laxa Autosomal dominant, Autosomal recessive, X-linked dominant |
Skin disorders |
ATP6V0A2 ATPase H+ transporting V0 subunit a2 LTBP4 latent transforming growth factor beta binding protein 4 EFEMP2 EGF containing fibulin extracellular matrix protein 2 FBLN5 fibulin 5 ATP7A ATPase copper transporting alpha ELN elastin ALDH18A1 aldehyde dehydrogenase 18 family member A1 PYCR1 pyrroline-5-carboxylate reductase 1 EFEMP1 EGF containing fibulin extracellular matrix protein 1 LTBP1 latent transforming growth factor beta binding protein 1 GBE1 1,4-alpha-glucan branching enzyme 1 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 63 | Cystinuria Autosomal dominant, Autosomal recessive |
Metabolic disorders |
SLC7A9 solute carrier family 7 member 9 SLC3A1 solute carrier family 3 member 1 CENPF centromere protein F |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 64 | Dejerine-Sottas disease Autosomal dominant, Autosomal recessive |
Neuromuscular disorders |
PRX periaxin MPZ myelin protein zero PMP22 peripheral myelin protein 22 EGR2 early growth response 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 65 | Desmin-related myofibrillar myopathy Autosomal dominant, Autosomal recessive |
Neuromuscular disorders |
DES desmin TTN titin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 66 | Diamond-Blackfan anemia Autosomal dominant |
Blood disorders |
RPL11 ribosomal protein L11 RPS26 ribosomal protein S26 RPS7 ribosomal protein S7 RPL5 ribosomal protein L5 RPS10 ribosomal protein S10 RPS19 ribosomal protein S19 RPS24 ribosomal protein S24 RPS17 ribosomal protein S17 RPL35A ribosomal protein L35a RPL26 ribosomal protein L26 RPL15 ribosomal protein L15 RPS29 ribosomal protein S29 TSR2 TSR2 ribosome maturation factor RPS28 ribosomal protein S28 RPS27 ribosomal protein S27 RPL27 ribosomal protein L27 EPO erythropoietin TP53 tumor protein p53 RPS15A ribosomal protein S15a RPL18 ribosomal protein L18 RPL35 ribosomal protein L35 GATA1 GATA binding protein 1 RPS20 ribosomal protein S20 HEATR3 HEAT repeat containing 3 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 67 | Dowling-Degos disease Autosomal dominant |
Skin disorders |
KRT5 keratin 5 POFUT1 protein O-fucosyltransferase 1 POGLUT1 protein O-glucosyltransferase 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 68 | Duane retraction syndrome Autosomal dominant, Autosomal recessive |
Eye disorders |
CHN1 chimerin 1 MAFB MAF bZIP transcription factor B |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 69 | Dyskeratosis congenita Autosomal dominant, Autosomal recessive, X-linked dominant |
Skin disorders |
NOP10 NOP10 ribonucleoprotein NHP2 NHP2 ribonucleoprotein TINF2 TERF1 interacting nuclear factor 2 TERC telomerase RNA component DKC1 dyskerin pseudouridine synthase 1 TERT telomerase reverse transcriptase WRAP53 WD repeat containing antisense to TP53 CTC1 CST telomere replication complex component 1 RTEL1 regulator of telomere elongation helicase 1 PARN poly(A)-specific ribonuclease ACD ACD shelterin complex subunit and telomerase recruitment factor INPP4A inositol polyphosphate-4-phosphatase type I A TYMS thymidylate synthetase DCLRE1B DNA cross-link repair 1B |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 70 | Early infantile epileptic encephalopathy with suppression bursts Autosomal dominant, Autosomal recessive, X-linked recessive |
Neurodevelopmental disorders |
KCNQ2 potassium voltage-gated channel subfamily Q member 2 KCNH5 potassium voltage-gated channel subfamily H member 5 SCN1A sodium voltage-gated channel alpha subunit 1 SCN8A sodium voltage-gated channel alpha subunit 8 STXBP1 syntaxin binding protein 1 SPTAN1 spectrin alpha, non-erythrocytic 1 SLC25A22 solute carrier family 25 member 22 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 GNAO1 G protein subunit alpha o1 PIGP phosphatidylinositol glycan anchor biosynthesis class P ARHGEF15 Rho guanine nucleotide exchange factor 15 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 CDKL5 cyclin dependent kinase like 5 GOT2 glutamic-oxaloacetic transaminase 2 KCNB1 potassium voltage-gated channel subfamily B member 1 SNAP25 synaptosome associated protein 25 SCN2A sodium voltage-gated channel alpha subunit 2 CACNA1E calcium voltage-gated channel subunit alpha1 E KCNC2 potassium voltage-gated channel subfamily C member 2 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ANO4 anoctamin 4 UBA5 ubiquitin like modifier activating enzyme 5 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 |
Reports Updated as of Feb 26, 2025 |
PubMed |