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
251 Perineural cyst  (Mar 09, 2023)
Neuronal disorders HEXA hexosaminidase subunit alpha
PubMed Reports
252 Perry syndrome  (Jan 04, 2024)
Autosomal dominant
Neurodegenerative disorders DCTN1 dynactin subunit 1
PubMed Reports
253 Persistent hyperplastic primary vitreous  (Sep 05, 2023)
Autosomal dominant, Autosomal recessive
Eye disorders ATOH7 atonal bHLH transcription factor 7
PubMed Reports
254 Peutz-Jeghers syndrome  (Jul 20, 2024)
Autosomal dominant
Gastrointestinal disorders STK11 serine/threonine kinase 11
PubMed Reports
255 Phakomatosis pigmentokeratotica  (Jan 04, 2024)
Skin disorders HRAS HRas proto-oncogene, GTPase
PubMed Reports
256 Phelan-McDermid syndrome  (Sep 15, 2022)
Autosomal dominant
Neurodevelopmental disorders SHANK3 SH3 and multiple ankyrin repeat domains 3
PubMed Reports
257 Piebaldism  (Jan 04, 2024)
Autosomal dominant
Skin disorders KIT KIT proto-oncogene, receptor tyrosine kinase
PubMed Reports
258 Pierson syndrome  (Jan 04, 2024)
Autosomal recessive
Nephrological disorders LAMB2 laminin subunit beta 2
PubMed Reports
259 Pili torti-deafness syndrome  (Nov 30, 2023)
Autosomal recessive
Ear disorders/Hair disorders BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
PubMed Reports
260 Pilomatrixoma  (Jan 04, 2024)
Somatic mutation
Cancer disorders CTNNB1 catenin beta 1
PubMed Reports