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
61 CEDNIK syndrome  (Nov 30, 2023)
Autosomal recessive
Skin disorders SNAP29 synaptosome associated protein 29
PubMed Reports
62 Cenani-Lenz syndactyly syndrome  (Nov 30, 2023)
Autosomal recessive
Bone disorders LRP4 LDL receptor related protein 4
PubMed Reports
63 Central core myopathy  (Nov 30, 2023)
Autosomal dominant
Neuromuscular disorders RYR1 ryanodine receptor 1
PubMed Reports
64 Cheilitis glandularis  (Jul 20, 2024)
Autosomal dominant
Skin disorders CAST calpastatin
PubMed Reports
65 Child syndrome  (Nov 30, 2023)
X-linked recessive
Skin disorders NSDHL NAD(P) dependent steroid dehydrogenase-like
PubMed Reports
66 Cholestanol storage disease  (Mar 09, 2023)
Autosomal recessive
Metabolic disorders/Lysosomal storage disorders CYP27A1 cytochrome P450 family 27 subfamily A member 1
PubMed Reports
67 Chondrosarcoma  (Nov 30, 2023)
Somatic mutation
Cancer disorders EXT1 exostosin glycosyltransferase 1
PubMed Reports
68 Chorea-acanthocytosis  (Sep 15, 2022)
Autosomal recessive
Neurodegenerative disorders VPS13A vacuolar protein sorting 13 homolog A
PubMed Reports
69 Choroid plexus papilloma  (Jan 04, 2024)
Autosomal dominant
Cancer disorders TP53 tumor protein p53
PubMed Reports
70 Chronic inflammatory demyelinating polyneuropathy  (Nov 30, 2023)
Neuromuscular disorders PMP22 peripheral myelin protein 22
PubMed Reports