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
351	Pierson syndrome Autosomal recessive	Nephrological disorders	LAMB2 laminin subunit beta 2	Reports Updated as of Jan 04, 2024	PubMed
352	Pigmentary pallidal degeneration Autosomal recessive	Neurodegenerative disorders	PANK2 pantothenate kinase 2	Reports Updated as of Jun 12, 2025	PubMed
353	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
354	Pilomatrixoma Somatic mutation	Cancer disorders	CTNNB1 catenin beta 1	Reports Updated as of Jan 04, 2024	PubMed
355	Plasminogen deficiency Autosomal recessive	Blood disorders	PLG plasminogen	Reports Updated as of Nov 30, 2023	PubMed
356	Poikiloderma with neutropenia Autosomal recessive	Skin disorders	USB1 U6 snRNA biogenesis phosphodiesterase 1	Reports Updated as of Jan 04, 2024	PubMed
357	Polyglandular autoimmune syndrome, type 1 Autosomal dominant, Autosomal recessive	Immune disorders	AIRE autoimmune regulator	Reports Updated as of Jun 12, 2025	PubMed
358	Polyostotic fibrous dysplasia Somatic mosaicism	Bone disorders	GNAS GNAS complex locus	Reports Updated as of Sep 05, 2023	PubMed
359	Pontocerebellar hypoplasia type 9 Autosomal recessive	Neuromuscular disorders	AMPD2 adenosine monophosphate deaminase 2	Reports Updated as of Feb 01, 2025	PubMed
360	Popliteal pterygium syndrome Autosomal dominant	Multisystemic disorders	IRF6 interferon regulatory factor 6	Reports Updated as of Feb 26, 2025	PubMed

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