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
461	Pulmonary alveolar microlithiasis Autosomal recessive	Respiratory disorders	SLC34A2 solute carrier family 34 member 2	Reports Updated as of Jan 04, 2024	PubMed
462	Purine-nucleoside phosphorylase deficiency Autosomal recessive	Metabolic disorders	PNP purine nucleoside phosphorylase	Reports Updated as of Jan 04, 2024	PubMed
463	Pyknodysostosis Autosomal recessive	Bone disorders	CTSK cathepsin K	Reports Updated as of Jan 04, 2024	PubMed
464	Pyle metaphyseal dysplasia Autosomal recessive	Bone disorders	SFRP4 secreted frizzled related protein 4	Reports Updated as of Jan 04, 2024	PubMed
465	Pyridoxal phosphate-responsive seizures Autosomal recessive	Metabolic disorders	PNPO pyridoxamine 5'-phosphate oxidase	Reports Updated as of Jan 04, 2024	PubMed
466	Pyridoxine-dependent epilepsy Autosomal recessive	Metabolic disorders	ALDH7A1 aldehyde dehydrogenase 7 family member A1	Reports Updated as of Jan 04, 2024	PubMed
467	Pyruvate carboxylase deficiency Autosomal recessive	Metabolic disorders	PC pyruvate carboxylase	Reports Updated as of Feb 20, 2024	PubMed
468	Pyruvate kinase deficiency of red cells Autosomal recessive	Metabolic disorders	PKLR pyruvate kinase L/R	Reports Updated as of Feb 01, 2025	PubMed
469	Qualitative or quantitative defects of dysferlin Autosomal recessive	Neuromuscular disorders	DYSF dysferlin	Reports Updated as of Mar 09, 2023	PubMed
470	Radial aplasia-thrombocytopenia syndrome Autosomal recessive	Multisystemic disorders	RBM8A RNA binding motif protein 8A	Reports Updated as of Mar 30, 2026	PubMed

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