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
471	Osteoglophonic dysplasia Autosomal dominant	Bone disorders	FGFR1 fibroblast growth factor receptor 1	Reports Updated as of Nov 30, 2023	PubMed
472	Osteopathia striata with cranial sclerosis X-linked dominant	Bone disorders	AMER1 APC membrane recruitment protein 1	Reports Updated as of Feb 01, 2025	PubMed
473	Osteopetrosis with renal tubular acidosis Autosomal recessive	Bone disorders	CA2 carbonic anhydrase 2	Reports Updated as of Jul 20, 2024	PubMed
474	Osteoporosis with pseudoglioma Autosomal recessive	Bone disorders	LRP5 LDL receptor related protein 5	Reports Updated as of Feb 01, 2025	PubMed
475	Osteosclerotic metaphyseal dysplasia Autosomal recessive	Bone disorders	LRRK1 leucine rich repeat kinase 1	Reports Updated as of Jan 05, 2026	PubMed
476	Oto-Palato-Digital syndrome X-linked recessive	Bone disorders	FLNA filamin A	Reports Updated as of Sep 05, 2023	PubMed
477	Overhydrated hereditary stomatocytosis Autosomal dominant	Blood disorders	RHAG Rh associated glycoprotein	Reports Updated as of Jan 04, 2024	PubMed
478	Parathyroid carcinoma	Cancer disorders	CDC73 cell division cycle 73	Reports Updated as of Jan 04, 2024	PubMed
479	Parkes Weber syndrome Autosomal dominant	Cardiovascular disorders	MAP2K1 mitogen-activated protein kinase kinase 1	Reports Updated as of Apr 28, 2026	PubMed
480	Parkinsonian-pyramidal syndrome Autosomal recessive	Neurodegenerative disorders	FBXO7 F-box protein 7	Reports Updated as of Feb 10, 2026	PubMed

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