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 |
| 201 | Pigmented villonodular synovitis |
Tumor/Cancer |
CSF1 colony stimulating factor 1 CSF1R colony stimulating factor 1 receptor |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 202 | Pituitary stalk interruption syndrome Autosomal dominant, Autosomal recessive |
Endocrine disorders |
ROBO1 roundabout guidance receptor 1 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 CDON cell adhesion associated, oncogene regulated DNMT1 DNA methyltransferase 1 KISS1R KISS1 receptor |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 203 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Autosomal recessive |
Bone disorders |
TREM2 triggering receptor expressed on myeloid cells 2 TYROBP transmembrane immune signaling adaptor TYROBP |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 204 | Pontocerebellar hypoplasia type 1 Autosomal recessive |
Neuromuscular disorders |
VRK1 VRK serine/threonine kinase 1 EXOSC3 exosome component 3 CLP1 cleavage factor polyribonucleotide kinase subunit 1 CHMP1A charged multivesicular body protein 1A |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 205 | Prader-willi syndrome Autosomal dominant |
Neurodevelopmental disorders |
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IPW imprinted in Prader-Willi syndrome MAGEL2 MAGE family member L2 MKRN3 makorin ring finger protein 3 SNORD115-1 small nucleolar RNA, C/D box 115-1 SNRPN small nuclear ribonucleoprotein polypeptide N NPAP1 nuclear pore associated protein 1 PWAR1 Prader Willi/Angelman region RNA 1 PWRN1 Prader-Willi region non-protein coding RNA 1 SNORD116-1 small nucleolar RNA, C/D box 116-1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 206 | Primary ciliary dyskinesia Autosomal dominant, Autosomal recessive, X-linked dominant |
Respiratory disorders |
DNAAF1 dynein axonemal assembly factor 1 RSPH4A radial spoke head component 4A DNAAF2 dynein axonemal assembly factor 2 DNAI2 dynein axonemal intermediate chain 2 DNAH11 dynein axonemal heavy chain 11 DNAH5 dynein axonemal heavy chain 5 DNAL1 dynein axonemal light chain 1 CCDC39 coiled-coil domain 39 molecular ruler complex subunit CCDC40 coiled-coil domain 40 molecular ruler complex subunit DNAAF3 dynein axonemal assembly factor 3 CCDC103 coiled-coil domain containing 103 ODAD1 outer dynein arm docking complex subunit 1 DNAAF5 dynein axonemal assembly factor 5 HYDIN HYDIN axonemal central pair apparatus protein DNAAF11 dynein axonemal assembly factor 11 DRC1 dynein regulatory complex subunit 1 ZMYND10 zinc finger MYND-type containing 10 ODAD2 outer dynein arm docking complex subunit 2 RSPH1 radial spoke head component 1 RSPH9 radial spoke head component 9 DNAAF4 dynein axonemal assembly factor 4 SPAG1 sperm associated antigen 1 CCDC65 coiled-coil domain containing 65 CFAP298 cilia and flagella associated protein 298 CCNO cyclin O ODAD3 outer dynein arm docking complex subunit 3 RSPH3 radial spoke head 3 GAS8 growth arrest specific 8 DNAI1 dynein axonemal intermediate chain 1 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein DNAH8 dynein axonemal heavy chain 8 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 ODAD4 outer dynein arm docking complex subunit 4 NME8 NME/NM23 family member 8 RPGR retinitis pigmentosa GTPase regulator OFD1 OFD1 centriole and centriolar satellite protein SPEF2 sperm flagellar 2 DNAH1 dynein axonemal heavy chain 1 DNAH9 dynein axonemal heavy chain 9 DAW1 dynein assembly factor with WD repeats 1 DNAAF6 dynein axonemal assembly factor 6 CFAP221 cilia and flagella associated protein 221 CFAP57 cilia and flagella associated protein 57 MPEG1 macrophage expressed 1 GAS2L2 growth arrest specific 2 like 2 NFKB1 nuclear factor kappa B subunit 1 CENPF centromere protein F |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 207 | Primary familial polycythemia due to EPO receptor mutation Autosomal dominant |
Blood disorders |
EPOR erythropoietin receptor SH2B3 SH2B adaptor protein 3 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| 208 | Primary hyperoxaluria, type I Autosomal recessive |
Metabolic disorders |
GRHPR glyoxylate and hydroxypyruvate reductase AGXT alanine--glyoxylate aminotransferase |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 209 | Primary intestinal lymphangiectasia |
Gastrointestinal disorders |
FOXC2 forkhead box C2 PROX1 prospero homeobox 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 210 | Primary myelofibrosis |
Cancer disorders |
SH2B3 SH2B adaptor protein 3 CALR calreticulin |
Reports Updated as of Jan 04, 2024 |
PubMed |