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
31 Ankylosing spondylitis  (Sep 15, 2022)
Immune disorders PTGER4 prostaglandin E receptor 4
PubMed Reports
32 Aplasia cutis congenita  (Feb 01, 2024)
Autosomal dominant
Skin disorders BMS1 BMS1 ribosome biogenesis factor
PubMed Reports
33 Apparent mineralocorticoid excess  (Feb 01, 2024)
Autosomal recessive
Endocrine disorders HSD11B2 hydroxysteroid 11-beta dehydrogenase 2
PubMed Reports
34 Arginase deficiency  (Nov 30, 2023)
Autosomal recessive
Metabolic disorders ARG1 arginase 1
PubMed Reports
35 Aromatase deficiency  (Feb 01, 2024)
Autosomal recessive
Endocrine disorders CYP19A1 cytochrome P450 family 19 subfamily A member 1
PubMed Reports
36 Aromatic L-amino acid decarboxylase deficiency  (Sep 05, 2023)
Autosomal recessive
Metabolic disorders DDC dopa decarboxylase
PubMed Reports
37 Arterial tortuosity syndrome  (Feb 20, 2024)
Autosomal recessive
Cardiovascular disorders SLC2A10 solute carrier family 2 member 10
PubMed Reports
38 Ataxia-telangiectasia syndrome  (Sep 15, 2022)
Autosomal recessive
Neurodegenerative disorders ATM ATM serine/threonine kinase
PubMed Reports
39 Autoerythrocyte sensitization syndrome  (Feb 20, 2024)
Immune disorders CRP C-reactive protein
PubMed Reports
40 Autosomal dominant osteopetrosis 2  (Jul 20, 2024)
Autosomal dominant
Bone disorders CLCN7 chloride voltage-gated channel 7
PubMed Reports