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
Modes of inheritance
Category Gene symbol Indian
context
 Links
141 Familial spontaneous pneumothorax 
Autosomal dominant
Respiratory disorders FLCN folliculin
Reports
Updated as of Feb 20, 2024
PubMed
142 Farber lipogranulomatosis 
Autosomal recessive
Metabolic disorders/Lysosomal storage disorders ASAH1 N-acylsphingosine amidohydrolase 1
Reports
Updated as of Sep 15, 2022
PubMed
143 Fibrosis of extraocular muscles, congenital, 2 
Autosomal recessive
Neuromuscular disorders PHOX2A paired like homeobox 2A
Reports
Updated as of Feb 01, 2025
PubMed
144 Fibrous dysplasia of jaw 
Autosomal dominant
Bone disorders SH3BP2 SH3 domain binding protein 2
Reports
Updated as of Mar 09, 2023
PubMed
145 Filippi syndrome 
Autosomal recessive
Bone disorders CKAP2L cytoskeleton associated protein 2 like
Reports
Updated as of Dec 07, 2023
PubMed
146 Floating-Harbor syndrome 
Autosomal dominant
Bone disorders SRCAP Snf2 related CREBBP activator protein
Reports
Updated as of Dec 07, 2023
PubMed
147 Focal dermal hypoplasia 
X-linked recessive
Skin disorders PORCN porcupine O-acyltransferase
Reports
Updated as of Dec 07, 2023
PubMed
148 Fragile X syndrome 
X-linked recessive
Neurodevelopmental disorders FMR1 fragile X messenger ribonucleoprotein 1
Reports
Updated as of Sep 05, 2023
PubMed
149 Friedreich ataxia 
Autosomal recessive
Neurodegenerative disorders FXN frataxin
Reports
Updated as of Sep 05, 2023
PubMed
150 Fumarase deficiency 
Autosomal recessive
Metabolic disorders FH fumarate hydratase
Reports
Updated as of Feb 20, 2024
PubMed