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
331	Ornithine carbamoyltransferase deficiency X-linked dominant	Metabolic disorders	OTC ornithine transcarbamylase	Reports Updated as of Dec 29, 2023	PubMed
332	Orofaciodigital syndrome I X-linked recessive	Neurodevelopmental disorders	OFD1 OFD1 centriole and centriolar satellite protein	Reports Updated as of Feb 01, 2024	PubMed
333	Orthostatic hypotension 1 Autosomal recessive	Metabolic disorders	DBH dopamine beta-hydroxylase	Reports Updated as of Feb 20, 2024	PubMed
334	Osteofibrous dysplasia Autosomal dominant	Bone disorders	MET MET proto-oncogene, receptor tyrosine kinase	Reports Updated as of Jan 04, 2024	PubMed
335	Osteoglophonic dysplasia Autosomal dominant	Bone disorders	FGFR1 fibroblast growth factor receptor 1	Reports Updated as of Nov 30, 2023	PubMed
336	Osteopathia striata with cranial sclerosis X-linked dominant	Bone disorders	AMER1 APC membrane recruitment protein 1	Reports Updated as of Feb 04, 2025	PubMed
337	Osteopetrosis with renal tubular acidosis Autosomal recessive	Bone disorders	CA2 carbonic anhydrase 2	Reports Updated as of Jul 20, 2024	PubMed
338	Osteoporosis with pseudoglioma Autosomal recessive	Bone disorders	LRP5 LDL receptor related protein 5	Reports Updated as of Feb 01, 2025	PubMed
339	Oto-Palato-Digital syndrome X-linked recessive	Bone disorders	FLNA filamin A	Reports Updated as of Sep 05, 2023	PubMed
340	Overhydrated hereditary stomatocytosis Autosomal dominant	Blood disorders	RHAG Rh associated glycoprotein	Reports Updated as of Jan 04, 2024	PubMed

First «32 33 34 35 36 »Last 48 pages