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
421	Partial Androgen Insensitivity Syndrome X-linked dominant	Endocrine disorders	AR androgen receptor	Reports Updated as of Sep 05, 2023	PubMed
422	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency X-linked recessive	Metabolic disorders	HPRT1 hypoxanthine phosphoribosyltransferase 1	Reports Updated as of Jan 05, 2026	PubMed
423	Pediatric hepatocellular carcinoma	Cancer disorders	MET MET proto-oncogene, receptor tyrosine kinase	Reports Updated as of Jan 04, 2024	PubMed
424	Perineural cyst	Neuronal disorders	HEXA hexosaminidase subunit alpha	Reports Updated as of Mar 09, 2023	PubMed
425	Perry syndrome Autosomal dominant	Neurodegenerative disorders	DCTN1 dynactin subunit 1	Reports Updated as of Jan 04, 2024	PubMed
426	Persistent hyperplastic primary vitreous Autosomal dominant, Autosomal recessive	Eye disorders	ATOH7 atonal bHLH transcription factor 7	Reports Updated as of Sep 05, 2023	PubMed
427	Peutz-Jeghers syndrome Autosomal dominant	Gastrointestinal disorders	STK11 serine/threonine kinase 11	Reports Updated as of Jul 20, 2024	PubMed
428	Phakomatosis pigmentokeratotica	Skin disorders	HRAS HRas proto-oncogene, GTPase	Reports Updated as of Jan 04, 2024	PubMed
429	Phelan-McDermid syndrome Autosomal dominant	Neurodevelopmental disorders	SHANK3 SH3 and multiple ankyrin repeat domains 3	Reports Updated as of Sep 15, 2022	PubMed
430	Piebaldism Autosomal dominant	Skin disorders	KIT KIT proto-oncogene, receptor tyrosine kinase	Reports Updated as of Jan 04, 2024	PubMed

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