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
471	Pyridoxal phosphate-responsive seizures Autosomal recessive	Metabolic disorders	PNPO pyridoxamine 5'-phosphate oxidase	Reports Updated as of Jan 04, 2024	PubMed
472	Pyridoxine-dependent epilepsy Autosomal recessive	Metabolic disorders	ALDH7A1 aldehyde dehydrogenase 7 family member A1	Reports Updated as of Jan 04, 2024	PubMed
473	Pyruvate carboxylase deficiency Autosomal recessive	Metabolic disorders	PC pyruvate carboxylase	Reports Updated as of Feb 20, 2024	PubMed
474	Pyruvate kinase deficiency of red cells Autosomal recessive	Metabolic disorders	PKLR pyruvate kinase L/R	Reports Updated as of Feb 01, 2025	PubMed
475	Qualitative or quantitative defects of dysferlin Autosomal recessive	Neuromuscular disorders	DYSF dysferlin	Reports Updated as of Mar 09, 2023	PubMed
476	Radial aplasia-thrombocytopenia syndrome Autosomal recessive	Multisystemic disorders	RBM8A RNA binding motif protein 8A	Reports Updated as of Mar 30, 2026	PubMed
477	Ramon syndrome Autosomal recessive	Oral disorders	ELMO2 engulfment and cell motility 2	Reports Updated as of Jan 04, 2024	PubMed
478	Reactive arthritis	Bone disorders	HLA-B major histocompatibility complex, class I, B	Reports Updated as of Jan 04, 2024	PubMed
479	Recessive dystrophic epidermolysis bullosa Autosomal recessive	Skin disorders	COL7A1 collagen type VII alpha 1 chain	Reports Updated as of Jun 12, 2025	PubMed
480	Renal carnitine transport defect Autosomal recessive	Metabolic disorders	SLC22A5 solute carrier family 22 member 5	Reports Updated as of Feb 01, 2025	PubMed

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