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
281	Niemann-Pick disease, type B Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	SMPD1 sphingomyelin phosphodiesterase 1	Reports Updated as of Sep 15, 2022	PubMed
282	Obesity due to congenital leptin deficiency Autosomal recessive	Endocrine disorders	LEP leptin	Reports Updated as of Jan 04, 2024	PubMed
283	Ocular cystinosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	CTNS cystinosin, lysosomal cystine transporter	Reports Updated as of Jul 20, 2024	PubMed
284	Oculodentodigital dysplasia Autosomal dominant	Bone disorders	GJA1 gap junction protein alpha 1	Reports Updated as of Sep 05, 2023	PubMed
285	Oligodendroglioma	Cancer disorders	CIC capicua transcriptional repressor	Reports Updated as of Jan 04, 2024	PubMed
286	Opsismodysplasia Autosomal recessive	Bone disorders	INPPL1 inositol polyphosphate phosphatase like 1	Reports Updated as of Jan 04, 2024	PubMed
287	Ornithine aminotransferase deficiency Autosomal recessive	Metabolic disorders	OAT ornithine aminotransferase	Reports Updated as of Dec 07, 2023	PubMed
288	Ornithine carbamoyltransferase deficiency X-linked dominant	Metabolic disorders	OTC ornithine transcarbamylase	Reports Updated as of Dec 29, 2023	PubMed
289	Orofaciodigital syndrome I X-linked recessive	Neurodevelopmental disorders	OFD1 OFD1 centriole and centriolar satellite protein	Reports Updated as of Feb 01, 2024	PubMed
290	Orthostatic hypotension 1 Autosomal recessive	Metabolic disorders	DBH dopamine beta-hydroxylase	Reports Updated as of Feb 20, 2024	PubMed

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