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
121 Filippi syndrome  (Dec 07, 2023)
Autosomal recessive
Bone disorders CKAP2L cytoskeleton associated protein 2 like
PubMed Reports
122 Floating-Harbor syndrome  (Dec 07, 2023)
Autosomal dominant
Bone disorders SRCAP Snf2 related CREBBP activator protein
PubMed Reports
123 Focal dermal hypoplasia  (Dec 07, 2023)
X-linked recessive
Skin disorders PORCN porcupine O-acyltransferase
PubMed Reports
124 Fragile X syndrome  (Sep 05, 2023)
X-linked recessive
Neurodevelopmental disorders FMR1 fragile X messenger ribonucleoprotein 1
PubMed Reports
125 Friedreich ataxia  (Sep 05, 2023)
Autosomal recessive
Neurodegenerative disorders FXN frataxin
PubMed Reports
126 Fumarase deficiency  (Feb 20, 2024)
Autosomal recessive
Metabolic disorders FH fumarate hydratase
PubMed Reports
127 Galactose epimerase deficiency  (Sep 05, 2023)
Autosomal recessive
Metabolic disorders GALE UDP-galactose-4-epimerase
PubMed Reports
128 GAPO syndrome  (Dec 07, 2023)
Autosomal recessive
Developmental / Multisystemic disorders ANTXR1 ANTXR cell adhesion molecule 1
PubMed Reports
129 Ghosal hematodiaphyseal dysplasia  (Dec 07, 2023)
Autosomal recessive
Bone disorders TBXAS1 thromboxane A synthase 1
PubMed Reports
130 Glucocorticoid deficiency with achalasia  (Dec 29, 2023)
Autosomal recessive
Endocrine disorders AAAS aladin WD repeat nucleoporin
PubMed Reports