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
221	Lathosterolosis Autosomal recessive	Metabolic disorders	SC5D sterol-C5-desaturase	Reports Updated as of Feb 01, 2024	PubMed
222	Laurence-Moon syndrome Autosomal recessive	Eye disorders	PNPLA6 patatin like phospholipase domain containing 6	Reports Updated as of May 24, 2023	PubMed
223	LCAT deficiency Autosomal recessive	Metabolic disorders	LCAT lecithin-cholesterol acyltransferase	Reports Updated as of Dec 07, 2023	PubMed
224	Leprechaunism syndrome Autosomal recessive	Endocrine disorders	INSR insulin receptor	Reports Updated as of Feb 01, 2024	PubMed
225	Lesch-Nyhan syndrome X-linked dominant	Metabolic disorders	HPRT1 hypoxanthine phosphoribosyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
226	Lethal congenital contracture syndrome 9 Autosomal recessive	Neuromuscular disorders	ADGRG6 adhesion G protein-coupled receptor G6	Reports Updated as of Feb 01, 2025	PubMed
227	Lethal osteosclerotic bone dysplasia Autosomal recessive	Bone disorders	FAM20C FAM20C golgi associated secretory pathway kinase	Reports Updated as of Sep 15, 2022	PubMed
228	Leucine-induced hypoglycemia Autosomal dominant	Metabolic disorders	ABCC8 ATP binding cassette subfamily C member 8	Reports Updated as of Jul 20, 2024	PubMed
229	Linear nevus sebaceus syndrome Somatic mosaicism	Skin disorders	KRAS KRAS proto-oncogene, GTPase	Reports Updated as of Jan 04, 2024	PubMed
230	Lipid proteinosis Autosomal recessive	Metabolic disorders	ECM1 extracellular matrix protein 1	Reports Updated as of Feb 01, 2024	PubMed

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