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 |
191 | Maturity onset diabetes mellitus in young (MODY) (Jan 04, 2024) Autosomal dominant |
Metabolic disorders |
HNF4A hepatocyte nuclear factor 4 alpha |
PubMed | Reports |
192 | Menkes disease (Sep 15, 2022) X-linked dominant |
Metabolic disorders |
ATP7A ATPase copper transporting alpha |
PubMed | Reports |
193 | Mesoaxial synostotic syndactyly with phalangeal reduction (Feb 01, 2024) Autosomal recessive |
Bone disorders |
BHLHA9 basic helix-loop-helix family member a9 |
PubMed | Reports |
194 | Mesothelioma, malignan (Jan 04, 2024) Somatic mutation |
Respiratory disorders |
WT1 WT1 transcription factor |
PubMed | Reports |
195 | Metachondromatosis (Feb 01, 2024) Autosomal dominant |
Bone disorders |
PTPN11 protein tyrosine phosphatase non-receptor type 11 |
PubMed | Reports |
196 | Metaphyseal chondrodysplasia, Jansen type (Sep 15, 2022) Autosomal dominant |
Immune disorders |
PTH1R parathyroid hormone 1 receptor |
PubMed | Reports |
197 | Metaphyseal chondrodysplasia, McKusick type (Sep 15, 2022) Autosomal recessive |
Immune disorders |
RMRP RNA component of mitochondrial RNA processing endoribonuclease |
PubMed | Reports |
198 | Metatropic dysplasia (Feb 01, 2024) Autosomal dominant |
Bone disorders |
TRPV4 transient receptor potential cation channel subfamily V member 4 |
PubMed | Reports |
199 | Mevalonic aciduria (Feb 01, 2024) Autosomal recessive |
Metabolic disorders |
MVK mevalonate kinase |
PubMed | Reports |
200 | Miller syndrome (Jan 04, 2024) Autosomal recessive |
Bone disorders |
DHODH dihydroorotate dehydrogenase (quinone) |
PubMed | Reports |