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
301	Infantile GM1 gangliosidosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GLB1 galactosidase beta 1	Reports Updated as of Mar 09, 2023	PubMed
302	Infantile neuroaxonal dystrophy Autosomal recessive	Neurodegenerative disorders	PLA2G6 phospholipase A2 group VI	Reports Updated as of Feb 01, 2025	PubMed
303	Insulin autoimmune syndrome	Endocrine disorders	AIRE autoimmune regulator	Reports Updated as of Feb 20, 2024	PubMed
304	Interstitial cystitis	Nephrological disorders	TP53 tumor protein p53	Reports Updated as of Sep 15, 2022	PubMed
305	Isovaleryl-CoA dehydrogenase deficiency Autosomal recessive	Metabolic disorders	IVD isovaleryl-CoA dehydrogenase	Reports Updated as of Sep 08, 2025	PubMed
306	Johanson-Blizzard syndrome Autosomal recessive	Developmental / Multisystemic disorders	UBR1 ubiquitin protein ligase E3 component n-recognin 1	Reports Updated as of May 24, 2023	PubMed
307	Juvenile retinoschisis X-linked dominant	Eye disorders	RS1 retinoschisin 1	Reports Updated as of Feb 20, 2024	PubMed
308	Karyomegalic interstitial nephritis Autosomal recessive	Nephrological disorders	FAN1 FANCD2 and FANCI associated nuclease 1	Reports Updated as of Feb 01, 2024	PubMed
309	Kearns-Sayre syndrome Autosomal recessive, MT inheritance	Metabolic disorders	MT-TY mitochondrially encoded tRNA tyrosine	Reports Updated as of May 24, 2023	PubMed
310	Kennedy disease X-linked recessive	Neuromuscular disorders	AR androgen receptor	Reports Updated as of Feb 01, 2025	PubMed

First «29 30 31 32 33 »Last 60 pages