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
391	Renal carnitine transport defect Autosomal recessive	Metabolic disorders	SLC22A5 solute carrier family 22 member 5	Reports Updated as of Feb 01, 2025	PubMed
392	Renal coloboma syndrome Autosomal dominant	Eye disorders	PAX2 paired box 2	Reports Updated as of Jan 04, 2024	PubMed
393	Renpenning syndrome X-linked recessive	Neurodevelopmental disorders	PQBP1 polyglutamine binding protein 1	Reports Updated as of Nov 12, 2025	PubMed
394	Reticular dysgenesis Autosomal recessive	Immune disorders	AK2 adenylate kinase 2	Reports Updated as of Sep 08, 2025	PubMed
395	Salla disease Autosomal recessive	Metabolic disorders	SLC17A5 solute carrier family 17 member 5	Reports Updated as of Dec 29, 2023	PubMed
396	Sandhoff disease Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	HEXB hexosaminidase subunit beta	Reports Updated as of Nov 30, 2023	PubMed
397	Sarcoidosis Autosomal dominant	Immune disorders	BTNL2 butyrophilin like 2	Reports Updated as of Jan 04, 2024	PubMed
398	Schimke immuno-osseous dysplasia Autosomal recessive	Bone disorders	SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1	Reports Updated as of Jan 04, 2024	PubMed
399	Schnyder crystalline corneal dystrophy Autosomal dominant	Eye disorders	UBIAD1 UbiA prenyltransferase domain containing 1	Reports Updated as of Jan 04, 2024	PubMed
400	Schuurs-Hoeijmakers syndrome Autosomal dominant	Neurodevelopmental disorders	PACS1 phosphofurin acidic cluster sorting protein 1	Reports Updated as of Jul 20, 2024	PubMed

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