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
431	Perry syndrome Autosomal dominant	Neurodegenerative disorders	DCTN1 dynactin subunit 1	Reports Updated as of Jan 04, 2024	PubMed
432	Persistent hyperplastic primary vitreous Autosomal dominant, Autosomal recessive	Eye disorders	ATOH7 atonal bHLH transcription factor 7	Reports Updated as of Sep 05, 2023	PubMed
433	Peutz-Jeghers syndrome Autosomal dominant	Gastrointestinal disorders	STK11 serine/threonine kinase 11	Reports Updated as of Jul 20, 2024	PubMed
434	Phakomatosis pigmentokeratotica	Skin disorders	HRAS HRas proto-oncogene, GTPase	Reports Updated as of Jan 04, 2024	PubMed
435	Phelan-McDermid syndrome Autosomal dominant	Neurodevelopmental disorders	SHANK3 SH3 and multiple ankyrin repeat domains 3	Reports Updated as of Sep 15, 2022	PubMed
436	Piebaldism Autosomal dominant	Skin disorders	KIT KIT proto-oncogene, receptor tyrosine kinase	Reports Updated as of Jan 04, 2024	PubMed
437	Pierson syndrome Autosomal recessive	Nephrological disorders	LAMB2 laminin subunit beta 2	Reports Updated as of Jan 04, 2024	PubMed
438	Pigmentary pallidal degeneration Autosomal recessive	Neurodegenerative disorders	PANK2 pantothenate kinase 2	Reports Updated as of Jun 12, 2025	PubMed
439	Pili torti-deafness syndrome Autosomal recessive	Ear disorders/Hair disorders	BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	Reports Updated as of Nov 30, 2023	PubMed
440	Pilomatrixoma Somatic mutation	Cancer disorders	CTNNB1 catenin beta 1	Reports Updated as of Jan 04, 2024	PubMed

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