GenTIGS

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

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