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
351	Pyruvate carboxylase deficiency Autosomal recessive	Metabolic disorders	PC pyruvate carboxylase	Reports Updated as of Feb 20, 2024	PubMed
352	Pyruvate kinase deficiency of red cells Autosomal recessive	Metabolic disorders	PKLR pyruvate kinase L/R	Reports Updated as of Feb 01, 2025	PubMed
353	Qualitative or quantitative defects of dysferlin Autosomal recessive	Neuromuscular disorders	DYSF dysferlin	Reports Updated as of Mar 09, 2023	PubMed
354	Ramon syndrome Autosomal recessive	Oral disorders	ELMO2 engulfment and cell motility 2	Reports Updated as of Jan 04, 2024	PubMed
355	Reactive arthritis	Bone disorders	HLA-B major histocompatibility complex, class I, B	Reports Updated as of Jan 04, 2024	PubMed
356	Renal carnitine transport defect Autosomal recessive	Metabolic disorders	SLC22A5 solute carrier family 22 member 5	Reports Updated as of Feb 01, 2025	PubMed
357	Renal coloboma syndrome Autosomal dominant	Eye disorders	PAX2 paired box 2	Reports Updated as of Jan 04, 2024	PubMed
358	Salla disease Autosomal recessive	Metabolic disorders	SLC17A5 solute carrier family 17 member 5	Reports Updated as of Dec 29, 2023	PubMed
359	Sandhoff disease Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	HEXB hexosaminidase subunit beta	Reports Updated as of Nov 30, 2023	PubMed
360	Sarcoidosis Autosomal dominant	Immune disorders	BTNL2 butyrophilin like 2	Reports Updated as of Jan 04, 2024	PubMed

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