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
491	Pierson syndrome Autosomal recessive	Nephrological disorders	LAMB2 laminin subunit beta 2	Reports Updated as of Jan 04, 2024	PubMed
492	Pigmentary pallidal degeneration Autosomal recessive	Neurodegenerative disorders	PANK2 pantothenate kinase 2	Reports Updated as of Jun 12, 2025	PubMed
493	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
494	Pilomatrixoma Somatic mutation	Cancer disorders	CTNNB1 catenin beta 1	Reports Updated as of Jan 04, 2024	PubMed
495	Plasminogen deficiency Autosomal recessive	Blood disorders	PLG plasminogen	Reports Updated as of Nov 30, 2023	PubMed
496	Poikiloderma with neutropenia Autosomal recessive	Skin disorders	USB1 U6 snRNA biogenesis phosphodiesterase 1	Reports Updated as of Jan 04, 2024	PubMed
497	Polyglandular autoimmune syndrome, type 1 Autosomal dominant, Autosomal recessive	Immune disorders	AIRE autoimmune regulator	Reports Updated as of Jun 12, 2025	PubMed
498	Polyostotic fibrous dysplasia Somatic mosaicism	Bone disorders	GNAS GNAS complex locus	Reports Updated as of Sep 05, 2023	PubMed
499	Pontocerebellar hypoplasia type 6 Autosomal recessive	Metabolic disorders	RARS2 arginyl-tRNA synthetase 2, mitochondrial	Reports Updated as of Aug 17, 2026	PubMed
500	Pontocerebellar hypoplasia type 7 Autosomal recessive	Neurodegenerative disorders	TOE1 target of EGR1, exonuclease	Reports Updated as of Aug 17, 2026	PubMed

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