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
111 Fabry disease  (Mar 09, 2023)
X-linked recessive, X-linked dominant
Metabolic disorders/Lysosomal storage disorders GLA galactosidase alpha
PubMed Reports
112 Factor VII deficiency  (Nov 30, 2023)
Autosomal dominant, Autosomal recessive
Blood disorders F7 coagulation factor VII
PubMed Reports
113 Familial amyloid nephropathy with urticaria and deafness  (Feb 01, 2024)
Autosomal dominant
Nephrological disorders NLRP3 NLR family pyrin domain containing 3
PubMed Reports
114 Familial benign pemphigus  (Jul 20, 2024)
Autosomal dominant
Skin disorders ATP2C1 ATPase secretory pathway Ca2+ transporting 1
PubMed Reports
115 Familial juvenile hyperuricemic nephropathy type 1  (Mar 09, 2023)
Autosomal dominant
Nephrological disorders UMOD uromodulin
PubMed Reports
116 Familial mediterranean fever  (Mar 09, 2023)
Autosomal dominant, Autosomal recessive
Immune disorders MEFV MEFV innate immunity regulator, pyrin
PubMed Reports
117 Familial partial lipodystrophy  (Jan 04, 2024)
Autosomal dominant
Metabolic disorders LMNA lamin A/C
PubMed Reports
118 Familial spontaneous pneumothorax  (Feb 20, 2024)
Autosomal dominant
Respiratory disorders FLCN folliculin
PubMed Reports
119 Farber lipogranulomatosis  (Sep 15, 2022)
Autosomal recessive
Metabolic disorders/Lysosomal storage disorders ASAH1 N-acylsphingosine amidohydrolase 1
PubMed Reports
120 Fibrous dysplasia of jaw  (Mar 09, 2023)
Autosomal dominant
Bone disorders SH3BP2 SH3 domain binding protein 2
PubMed Reports