GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Monogenic disorders list    

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 (Gentigs update)
Modes of inheritance
Category Gene symbol  Links Indian
context
101 Doyne honeycomb retinal dystrophy  (Dec 07, 2023)
Autosomal dominant
Eye disorders EFEMP1 EGF containing fibulin extracellular matrix protein 1
PubMed Reports
102 Dubowitz syndrome  (Dec 29, 2023)
Autosomal recessive
Skin disorders NSUN2 NOP2/Sun RNA methyltransferase 2
PubMed Reports
103 Duchenne muscular dystrophy  (Sep 15, 2022)
X-linked dominant
Neuromuscular disorders DMD dystrophin
PubMed Reports
104 Dystonia 12  (Jan 04, 2024)
Autosomal dominant
Neurodevelopmental disorders ATP1A3 ATPase Na+/K+ transporting subunit alpha 3
PubMed Reports
105 Dystonia 28  (Mar 09, 2023)
Autosomal dominant
Neurodevelopmental disorders KMT2B lysine methyltransferase 2B
PubMed Reports
106 Early-onset generalized limb-onset dystonia  (Mar 09, 2023)
Autosomal dominant
Neuromuscular disorders TOR1A torsin family 1 member A
PubMed Reports
107 EAST syndrome  (Dec 29, 2023)
Autosomal recessive
Neurodevelopmental disorders KCNJ10 potassium inwardly rectifying channel subfamily J member 10
PubMed Reports
108 Encephalocraniocutaneous lipomatosis  (Dec 07, 2023)
Somatic mosaicism
Neuronal disorders FGFR1 fibroblast growth factor receptor 1
PubMed Reports
109 Essential thrombocythemia  (Dec 07, 2023)
Autosomal dominant, X-linked dominant
Blood disorders MPL MPL proto-oncogene, thrombopoietin receptor
PubMed Reports
110 Ethylmalonic encephalopathy  (Dec 07, 2023)
Autosomal recessive
Metabolic disorders ETHE1 ETHE1 persulfide dioxygenase
PubMed Reports