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
181 Leucine-induced hypoglycemia  (Jul 20, 2024)
Autosomal dominant
Metabolic disorders ABCC8 ATP binding cassette subfamily C member 8
PubMed Reports
182 Linear nevus sebaceus syndrome  (Jan 04, 2024)
Somatic mosaicism
Skin disorders KRAS KRAS proto-oncogene, GTPase
PubMed Reports
183 Lipid proteinosis  (Feb 01, 2024)
Autosomal recessive
Metabolic disorders ECM1 extracellular matrix protein 1
PubMed Reports
184 Lipomatosis, multiple symmetric  (Jan 04, 2024)
Autosomal dominant, Autosomal recessive, MT inheritance
Skin disorders MFN2 mitofusin 2
PubMed Reports
185 Lowe syndrome  (Sep 05, 2023)
X-linked dominant
Metabolic disorders OCRL OCRL inositol polyphosphate-5-phosphatase
PubMed Reports
186 Lysinuric protein intolerance  (Feb 01, 2024)
Autosomal recessive
Metabolic disorders SLC7A7 solute carrier family 7 member 7
PubMed Reports
187 Macular corneal dystrophy  (Feb 01, 2024)
Autosomal recessive
Eye disorders CHST6 carbohydrate sulfotransferase 6
PubMed Reports
188 Majeed syndrome  (Feb 01, 2024)
Autosomal recessive
Bone disorders LPIN2 lipin 2
PubMed Reports
189 Mantle cell lymphoma  (Feb 01, 2024)
Cancer disorders ATM ATM serine/threonine kinase
PubMed Reports
190 Map-dot-fingerprint corneal dystrophy  (Dec 07, 2023)
Autosomal dominant
Eye disorders TGFBI transforming growth factor beta induced
PubMed Reports