GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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
501	Pontocerebellar hypoplasia type 9 Autosomal recessive	Neuromuscular disorders	AMPD2 adenosine monophosphate deaminase 2	Reports Updated as of Feb 01, 2025	PubMed
502	Pontocerebellar hypoplasia, type 12 Autosomal recessive	Neurodegenerative disorders	COASY Coenzyme A synthase	Reports Updated as of Aug 17, 2026	PubMed
503	Popliteal pterygium syndrome Autosomal dominant	Multisystemic disorders	IRF6 interferon regulatory factor 6	Reports Updated as of Feb 26, 2025	PubMed
504	Porokeratosis of Mibelli Autosomal dominant	Skin disorders	PMVK phosphomevalonate kinase	Reports Updated as of Jan 04, 2024	PubMed
505	Primary biliary cholangitis	Liver disorders	TJP2 tight junction protein 2	Reports Updated as of Jan 04, 2024	PubMed
506	Primary erythromelalgia Autosomal dominant	Neurodevelopmental disorders	SCN9A sodium voltage-gated channel alpha subunit 9	Reports Updated as of Jan 04, 2024	PubMed
507	Primary hyperoxaluria, type II Autosomal recessive	Metabolic disorders	GRHPR glyoxylate and hydroxypyruvate reductase	Reports Updated as of Feb 20, 2024	PubMed
508	Primary hypomagnesemia Autosomal recessive	Metabolic disorders	CLDN16 claudin 16	Reports Updated as of Jul 20, 2024	PubMed
509	Primary progressive non fluent aphasia	Neurodegenerative disorders	TBK1 TANK binding kinase 1	Reports Updated as of Jan 04, 2024	PubMed
510	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Autosomal dominant	Metabolic disorders	RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B	Reports Updated as of Jul 20, 2024	PubMed

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