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 Modes of inheritance	Category	Gene symbol	Indian context	Links
341	Mesothelioma, malignan Somatic mutation	Respiratory disorders	WT1 WT1 transcription factor	Reports Updated as of Jan 04, 2024	PubMed
342	Metachondromatosis Autosomal dominant	Bone disorders	PTPN11 protein tyrosine phosphatase non-receptor type 11	Reports Updated as of Feb 01, 2024	PubMed
343	Metaphyseal chondrodysplasia, Jansen type Autosomal dominant	Immune disorders	PTH1R parathyroid hormone 1 receptor	Reports Updated as of Sep 15, 2022	PubMed
344	Metaphyseal chondrodysplasia, McKusick type Autosomal recessive	Immune disorders	RMRP RNA component of mitochondrial RNA processing endoribonuclease	Reports Updated as of Sep 15, 2022	PubMed
345	Metaphyseal chondrodysplasia, Schmid type Autosomal dominant	Bone disorders	COL10A1 collagen type X alpha 1 chain	Reports Updated as of Jan 05, 2026	PubMed
346	Metatropic dysplasia Autosomal dominant	Bone disorders	TRPV4 transient receptor potential cation channel subfamily V member 4	Reports Updated as of Feb 01, 2024	PubMed
347	Methylmalonic aciduria, cblB type Autosomal recessive	Metabolic disorders	MMAB metabolism of cobalamin associated B	Reports Updated as of Feb 10, 2026	PubMed
348	Mevalonic aciduria Autosomal recessive	Metabolic disorders	MVK mevalonate kinase	Reports Updated as of Feb 01, 2024	PubMed
349	Microcephaly 14, primary, autosomal recessive Autosomal recessive	Neurodevelopmental disorders	SASS6 SAS-6 centriolar assembly protein	Reports Updated as of Feb 10, 2026	PubMed
350	Microcephaly 16, primary, autosomal recessive Autosomal recessive	Neurodevelopmental disorders	ANKLE2 ankyrin repeat and LEM domain containing 2	Reports Updated as of Feb 10, 2026	PubMed

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