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
441	Plasminogen deficiency Autosomal recessive	Blood disorders	PLG plasminogen	Reports Updated as of Nov 30, 2023	PubMed
442	Poikiloderma with neutropenia Autosomal recessive	Skin disorders	USB1 U6 snRNA biogenesis phosphodiesterase 1	Reports Updated as of Jan 04, 2024	PubMed
443	Polyglandular autoimmune syndrome, type 1 Autosomal dominant, Autosomal recessive	Immune disorders	AIRE autoimmune regulator	Reports Updated as of Jun 12, 2025	PubMed
444	Polyostotic fibrous dysplasia Somatic mosaicism	Bone disorders	GNAS GNAS complex locus	Reports Updated as of Sep 05, 2023	PubMed
445	Pontocerebellar hypoplasia type 9 Autosomal recessive	Neuromuscular disorders	AMPD2 adenosine monophosphate deaminase 2	Reports Updated as of Feb 01, 2025	PubMed
446	Popliteal pterygium syndrome Autosomal dominant	Multisystemic disorders	IRF6 interferon regulatory factor 6	Reports Updated as of Feb 26, 2025	PubMed
447	Porokeratosis of Mibelli Autosomal dominant	Skin disorders	PMVK phosphomevalonate kinase	Reports Updated as of Jan 04, 2024	PubMed
448	Primary biliary cholangitis	Liver disorders	TJP2 tight junction protein 2	Reports Updated as of Jan 04, 2024	PubMed
449	Primary erythromelalgia Autosomal dominant	Neurodevelopmental disorders	SCN9A sodium voltage-gated channel alpha subunit 9	Reports Updated as of Jan 04, 2024	PubMed
450	Primary hyperoxaluria, type II Autosomal recessive	Metabolic disorders	GRHPR glyoxylate and hydroxypyruvate reductase	Reports Updated as of Feb 20, 2024	PubMed

First «43 44 45 46 47 »Last 60 pages