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
531	Pyruvate kinase deficiency of red cells Autosomal recessive	Metabolic disorders	PKLR pyruvate kinase L/R	Reports Updated as of Feb 01, 2025	PubMed
532	Qualitative or quantitative defects of dysferlin Autosomal recessive	Neuromuscular disorders	DYSF dysferlin	Reports Updated as of Mar 09, 2023	PubMed
533	Radial aplasia-thrombocytopenia syndrome Autosomal recessive	Multisystemic disorders	RBM8A RNA binding motif protein 8A	Reports Updated as of Mar 30, 2026	PubMed
534	Ramon syndrome Autosomal recessive	Oral disorders	ELMO2 engulfment and cell motility 2	Reports Updated as of Jan 04, 2024	PubMed
535	Reactive arthritis	Bone disorders	HLA-B major histocompatibility complex, class I, B	Reports Updated as of Jan 04, 2024	PubMed
536	Recessive dystrophic epidermolysis bullosa Autosomal recessive	Skin disorders	COL7A1 collagen type VII alpha 1 chain	Reports Updated as of Jun 12, 2025	PubMed
537	Renal carnitine transport defect Autosomal recessive	Metabolic disorders	SLC22A5 solute carrier family 22 member 5	Reports Updated as of Feb 01, 2025	PubMed
538	Renal coloboma syndrome Autosomal dominant	Eye disorders	PAX2 paired box 2	Reports Updated as of Jan 04, 2024	PubMed
539	Renal cysts and diabetes syndrome Autosomal dominant	Multisystemic disorders	HNF1B HNF1 homeobox B	Reports Updated as of Aug 17, 2026	PubMed
540	Renal tubular acidosis with progressive nerve deafness Autosomal recessive	Multisystemic disorders	ATP6V1B1 ATPase H+ transporting V1 subunit B1	Reports Updated as of Mar 30, 2026	PubMed

First «52 53 54 55 56 »Last 67 pages