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.
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.
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=10) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Osteogenesis imperfecta (AD, AR, XLD) |
•Brittle bone disease •Glass bone disease •Lobstein disease •COL1A1/2-Related Osteogenesis Imperfecta |
Bone disorders |
P3H1 prolyl 3-hydroxylase 1 FKBP10 FKBP prolyl isomerase 10 CRTAP cartilage associated protein PPIB peptidylprolyl isomerase B COL1A2 collagen type I alpha 2 chain COL1A1 collagen type I alpha 1 chain SERPINH1 serpin family H member 1 SERPINF1 serpin family F member 1 BMP1 bone morphogenetic protein 1 TMEM38B transmembrane protein 38B WNT1 Wnt family member 1 IFITM5 interferon induced transmembrane protein 5 SP7 Sp7 transcription factor SPARC secreted protein acidic and cysteine rich TENT5A terminal nucleotidyltransferase 5A MBTPS2 membrane bound transcription factor peptidase, site 2 CREB3L1 cAMP responsive element binding protein 3 like 1 SLC34A1 solute carrier family 34 member 1 MESD mesoderm development LRP chaperone KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 GBE1 1,4-alpha-glucan branching enzyme 1 LRP5 LDL receptor related protein 5 XYLT2 xylosyltransferase 2 PHLDB1 pleckstrin homology like domain family B member 1 |
Reports | PubMed |
| Cutis laxa (AD, AR, XLD) |
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 | PubMed | |
| Cone rod dystrophy (AD, AR, XLD) |
Eye disorders |
GUCY2D guanylate cyclase 2D, retinal ABCA4 ATP binding cassette subfamily A member 4 |
Reports | PubMed | |
| Moyamoya disease (AD, AR, XLD) |
Neuronal disorders |
ACTA2 actin alpha 2, smooth muscle RNF213 ring finger protein 213 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ANO1 anoctamin 1 |
Reports | PubMed | |
| Ectodermal dysplasia (AD, AR, XLD) |
Skin disorders |
NECTIN4 nectin cell adhesion molecule 4 EDARADD EDAR associated via death domain EDAR ectodysplasin A receptor IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma NFKBIA NFKB inhibitor alpha HOXC13 homeobox C13 KRT85 keratin 85 KDF1 keratinocyte differentiation factor 1 KREMEN1 kringle containing transmembrane protein 1 TSPEAR thrombospondin type laminin G domain and EAR repeats CST6 cystatin E/M RHOA ras homolog family member A |
Reports | PubMed | |
| Arthrogryposis multiplex congenita (AD, AR, XLD) |
Neuromuscular disorders |
SYNE1 spectrin repeat containing nuclear envelope protein 1 NEB nebulin ADGRG6 adhesion G protein-coupled receptor G6 TNNI2 troponin I2, fast skeletal type TNNT3 troponin T3, fast skeletal type TPM2 tropomyosin 2 MYH3 myosin heavy chain 3 LGI4 leucine rich repeat LGI family member 4 RYR1 ryanodine receptor 1 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 VPS13D vacuolar protein sorting 13 homolog D ACTA1 actin alpha 1, skeletal muscle CHRND cholinergic receptor nicotinic delta subunit CHRNG cholinergic receptor nicotinic gamma subunit BLTP1 bridge-like lipid transfer protein family member 1 ALDH5A1 aldehyde dehydrogenase 5 family member A1 ASAH1 N-acylsphingosine amidohydrolase 1 RAPSN receptor associated protein of the synapse SCN8A sodium voltage-gated channel alpha subunit 8 NALCN sodium leak channel, non-selective DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ADSS1 adenylosuccinate synthase 1 EARS2 glutamyl-tRNA synthetase 2, mitochondrial CNTNAP1 contactin associated protein 1 SCN4A sodium voltage-gated channel alpha subunit 4 PIEZO2 piezo type mechanosensitive ion channel component 2 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 SCYL2 SCY1 like pseudokinase 2 TOR1A torsin family 1 member A SENP7 SUMO specific peptidase 7 |
Reports | PubMed | |
| Dyskeratosis congenita (AD, AR, XLD) |
•Zinsser-Engman-Cole syndrome •Dyskeratosis congenita, X-linked •DKC |
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 | PubMed |
| Ciliary dyskinesia (AD, AR, XLD) |
•Primary ciliary dyskinesia •PCD |
Respiratory disorders |
MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein DNAAF6 dynein axonemal assembly factor 6 CFAP300 cilia and flagella associated protein 300 DNAH1 dynein axonemal heavy chain 1 LRRC56 leucine rich repeat containing 56 DNAH9 dynein axonemal heavy chain 9 FOXJ1 forkhead box J1 NEK10 NIMA related kinase 10 TTC12 tetratricopeptide repeat domain 12 STK36 serine/threonine kinase 36 TP73 tumor protein p73 NME5 NME/NM23 family member 5 CFAP74 cilia and flagella associated protein 74 DNAH7 dynein axonemal heavy chain 7 CLXN calaxin |
Reports | PubMed |
| Hereditary spastic paraplegia (AD, AR, XLD) |
•Strümpell-Lorrain disease •Familial spastic paraplegia •Hereditary spastic paraparesis •SPG •HSP |
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 | PubMed |
| Bartter syndrome (AD, AR, XLD) |
•Potassium wasting •Bartter's syndrome •Renal tubular normotensive hypokalemic alkalosis with hypercalciuria •Salt-losing tubular disorder, Henle's loop type •Salt-wasting tubulopathy, Henle's loop |
Nephrological disorders |
CLCNKB chloride voltage-gated channel Kb CASR calcium sensing receptor SLC12A3 solute carrier family 12 member 3 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 SLC12A1 solute carrier family 12 member 1 |
Reports | PubMed |