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
51 beta Thalassemia  (Nov 10, 2023)
Autosomal dominant, Autosomal recessive
Blood disorders HBB hemoglobin subunit beta
PubMed Reports
52 Biotinidase deficiency  (Sep 15, 2022)
Autosomal recessive
Metabolic disorders BTD biotinidase
PubMed Reports
53 Blau syndrome  (Nov 30, 2023)
Autosomal dominant
Immune disorders NOD2 nucleotide binding oligomerization domain containing 2
PubMed Reports
54 Bloom syndrome  (Nov 30, 2023)
Autosomal recessive
Skin disorders BLM BLM RecQ like helicase
PubMed Reports
55 Blue rubber bleb nevus  (Nov 30, 2023)
Autosomal dominant
Skin disorders GLMN glomulin, FKBP associated protein
PubMed Reports
56 Brooke-Spiegler syndrome  (Sep 15, 2022)
Autosomal dominant
Skin disorders CYLD CYLD lysine 63 deubiquitinase
PubMed Reports
57 Brown-Vialetto-van Laere syndrome 1  (Feb 20, 2024)
Autosomal recessive
Neurodegenerative disorders SLC52A3 solute carrier family 52 member 3
PubMed Reports
58 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome  (Mar 09, 2023)
Autosomal recessive
Bone disorders PRG4 proteoglycan 4
PubMed Reports
59 Camptomelic dysplasia  (Nov 02, 2023)
Autosomal dominant
Bone disorders SOX9 SRY-box transcription factor 9
PubMed Reports
60 Canavan disease  (Sep 15, 2022)
Autosomal recessive
Neurodegenerative disorders ASPA aspartoacylase
PubMed Reports