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 (Gentigs update) Modes of inheritance	Category	Gene symbol	Links	Indian context
231	Neutral lipid storage myopathy (Jan 04, 2024) Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	PNPLA2 patatin like phospholipase domain containing 2	PubMed	Reports
232	Niemann-Pick disease, type B (Sep 15, 2022) Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	SMPD1 sphingomyelin phosphodiesterase 1	PubMed	Reports
233	Obesity due to congenital leptin deficiency (Jan 04, 2024) Autosomal recessive	Endocrine disorders	LEP leptin	PubMed	Reports
234	Ocular cystinosis (Jul 20, 2024) Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	CTNS cystinosin, lysosomal cystine transporter	PubMed	Reports
235	Oculodentodigital dysplasia (Sep 05, 2023) Autosomal dominant	Bone disorders	GJA1 gap junction protein alpha 1	PubMed	Reports
236	Oligodendroglioma (Jan 04, 2024)	Cancer disorders	CIC capicua transcriptional repressor	PubMed	Reports
237	Opsismodysplasia (Jan 04, 2024) Autosomal recessive	Bone disorders	INPPL1 inositol polyphosphate phosphatase like 1	PubMed	Reports
238	Ornithine aminotransferase deficiency (Dec 07, 2023) Autosomal recessive	Metabolic disorders	OAT ornithine aminotransferase	PubMed	Reports
239	Ornithine carbamoyltransferase deficiency (Dec 29, 2023) X-linked dominant	Metabolic disorders	OTC ornithine transcarbamylase	PubMed	Reports
240	Orofaciodigital syndrome I (Feb 01, 2024) X-linked recessive	Neurodevelopmental disorders	OFD1 OFD1 centriole and centriolar satellite protein	PubMed	Reports

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