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
411	Opsismodysplasia Autosomal recessive	Bone disorders	INPPL1 inositol polyphosphate phosphatase like 1	Reports Updated as of Jan 04, 2024	PubMed
412	Ornithine aminotransferase deficiency Autosomal recessive	Metabolic disorders	OAT ornithine aminotransferase	Reports Updated as of Dec 07, 2023	PubMed
413	Ornithine carbamoyltransferase deficiency X-linked dominant	Metabolic disorders	OTC ornithine transcarbamylase	Reports Updated as of Dec 29, 2023	PubMed
414	Orofaciodigital syndrome I X-linked recessive	Neurodevelopmental disorders	OFD1 OFD1 centriole and centriolar satellite protein	Reports Updated as of Feb 01, 2024	PubMed
415	Orthostatic hypotension 1 Autosomal recessive	Metabolic disorders	DBH dopamine beta-hydroxylase	Reports Updated as of Feb 20, 2024	PubMed
416	Osteofibrous dysplasia Autosomal dominant	Bone disorders	MET MET proto-oncogene, receptor tyrosine kinase	Reports Updated as of Jan 04, 2024	PubMed
417	Osteoglophonic dysplasia Autosomal dominant	Bone disorders	FGFR1 fibroblast growth factor receptor 1	Reports Updated as of Nov 30, 2023	PubMed
418	Osteopathia striata with cranial sclerosis X-linked dominant	Bone disorders	AMER1 APC membrane recruitment protein 1	Reports Updated as of Feb 01, 2025	PubMed
419	Osteopetrosis with renal tubular acidosis Autosomal recessive	Bone disorders	CA2 carbonic anhydrase 2	Reports Updated as of Jul 20, 2024	PubMed
420	Osteoporosis with pseudoglioma Autosomal recessive	Bone disorders	LRP5 LDL receptor related protein 5	Reports Updated as of Feb 01, 2025	PubMed

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