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 |