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
161 Ichthyosis bullosa of Siemens  (Dec 29, 2023)
Autosomal dominant
Skin disorders KRT2 keratin 2
PubMed Reports
162 Idiopathic pulmonary fibrosis  (May 24, 2023)
Respiratory disorders TERT telomerase reverse transcriptase
PubMed Reports
163 Infantile GM1 gangliosidosis  (Mar 09, 2023)
Autosomal recessive
Metabolic disorders/Lysosomal storage disorders GLB1 galactosidase beta 1
PubMed Reports
164 Insulin autoimmune syndrome  (Feb 20, 2024)
Endocrine disorders AIRE autoimmune regulator
PubMed Reports
165 Interstitial cystitis  (Sep 15, 2022)
Nephrological disorders TP53 tumor protein p53
PubMed Reports
166 Isolated Pierre-Robin syndrome  (Sep 05, 2023)
Autosomal dominant
Oral disorders SNRPB small nuclear ribonucleoprotein polypeptides B and B1
PubMed Reports
167 Johanson-Blizzard syndrome  (May 24, 2023)
Autosomal recessive
Developmental / Multisystemic disorders UBR1 ubiquitin protein ligase E3 component n-recognin 1
PubMed Reports
168 Juvenile retinoschisis  (Feb 20, 2024)
X-linked dominant
Eye disorders RS1 retinoschisin 1
PubMed Reports
169 Karyomegalic interstitial nephritis  (Feb 01, 2024)
Autosomal recessive
Nephrological disorders FAN1 FANCD2 and FANCI associated nuclease 1
PubMed Reports
170 Kearns-Sayre syndrome  (May 24, 2023)
Autosomal recessive, MT inheritance
Metabolic disorders MT-TY mitochondrially encoded tRNA tyrosine
PubMed Reports