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 |
| 241 | Smith-McCort dysplasia Autosomal recessive |
Bone disorders |
DYM dymeclin RAB33B RAB33B, member RAS oncogene family |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 242 | Somatotroph adenoma Autosomal dominant |
Endocrine disorders |
AIP aryl hydrocarbon receptor interacting protein MEN1 menin 1 |
Reports Updated as of Nov 10, 2023 |
PubMed |
| 243 | Spastic ataxia Autosomal dominant, Autosomal recessive |
Neurodegenerative disorders |
MTPAP mitochondrial poly(A) polymerase AFG3L2 AFG3 like matrix AAA peptidase subunit 2 MARS2 methionyl-tRNA synthetase 2, mitochondrial KIF1C kinesin family member 1C VAMP1 vesicle associated membrane protein 1 NKX6-2 NK6 homeobox 2 CHP1 calcineurin like EF-hand protein 1 COQ4 coenzyme Q4 AMPD2 adenosine monophosphate deaminase 2 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 DARS2 aspartyl-tRNA synthetase 2, mitochondrial GJC2 gap junction protein gamma 2 PEX10 peroxisomal biogenesis factor 10 AHDC1 AT-hook DNA binding motif containing 1 PUM1 pumilio RNA binding family member 1 DAB1 DAB adaptor protein 1 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 SCN2A sodium voltage-gated channel alpha subunit 2 KIF1A kinesin family member 1A SYNE1 spectrin repeat containing nuclear envelope protein 1 ELOVL4 ELOVL fatty acid elongase 4 CYP7B1 cytochrome P450 family 7 subfamily B member 1 TMEM67 transmembrane protein 67 STXBP1 syntaxin binding protein 1 SPTAN1 spectrin alpha, non-erythrocytic 1 SETX senataxin EXOSC8 exosome component 8 SYNE2 spectrin repeat containing nuclear envelope protein 2 GALC galactosylceramidase CCDC88C coiled-coil domain containing 88C CLN6 CLN6 transmembrane ER protein TUBB3 tubulin beta 3 class III CACNA1G calcium voltage-gated channel subunit alpha1 G MKS1 MKS transition zone complex subunit 1 DNMT1 DNA methyltransferase 1 C19orf12 chromosome 19 open reading frame 12 PNPLA6 patatin like phospholipase domain containing 6 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 FLNC filamin C HPDL 4-hydroxyphenylpyruvate dioxygenase like |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 244 | Spinal muscular atrophy 1 Autosomal recessive |
Neuromuscular disorders |
SMN1 survival of motor neuron 1, telomeric SMN2 survival of motor neuron 2, centromeric |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 245 | Spondylocarpotarsal synostosis syndrome Autosomal recessive |
Bone disorders |
FLNB filamin B MYH3 myosin heavy chain 3 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 246 | Spondylocostal dysostosis Autosomal recessive |
Bone disorders |
MESP2 mesoderm posterior bHLH transcription factor 2 DLL3 delta like canonical Notch ligand 3 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase HES7 hes family bHLH transcription factor 7 TBX6 T-box transcription factor 6 RIPPLY2 ripply transcriptional repressor 2 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 247 | Stargardt disease Autosomal dominant, Autosomal recessive |
Eye disorders |
ELOVL4 ELOVL fatty acid elongase 4 PROM1 prominin 1 ABCA4 ATP binding cassette subfamily A member 4 BEST1 bestrophin 1 CRX cone-rod homeobox FLVCR1 FLVCR choline and heme transporter 1 COL2A1 collagen type II alpha 1 chain PRPH2 peripherin 2 RDH12 retinol dehydrogenase 12 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 248 | Stickler syndrome Autosomal dominant, Autosomal recessive |
Bone disorders |
COL11A1 collagen type XI alpha 1 chain COL9A1 collagen type IX alpha 1 chain COL2A1 collagen type II alpha 1 chain COL9A2 collagen type IX alpha 2 chain COL9A3 collagen type IX alpha 3 chain COL11A2 collagen type XI alpha 2 chain LOXHD1 lipoxygenase homology PLAT domains 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 249 | Subacute cerebellar degeneration |
Neurodegenerative disorders |
CDR2 cerebellar degeneration related protein 2 CDR2L cerebellar degeneration related protein 2 like |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 250 | Subcortical band heterotopia Autosomal recessive, X-linked dominant |
Neurodevelopmental disorders |
PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 DCX doublecortin |
Reports Updated as of Dec 29, 2023 |
PubMed |