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
321	Leprechaunism syndrome Autosomal recessive	Endocrine disorders	INSR insulin receptor	Reports Updated as of Feb 01, 2024	PubMed
322	Lesch-Nyhan syndrome X-linked dominant	Metabolic disorders	HPRT1 hypoxanthine phosphoribosyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
323	Lethal congenital contracture syndrome 9 Autosomal recessive	Neuromuscular disorders	ADGRG6 adhesion G protein-coupled receptor G6	Reports Updated as of Feb 01, 2025	PubMed
324	Lethal osteosclerotic bone dysplasia Autosomal recessive	Bone disorders	FAM20C FAM20C golgi associated secretory pathway kinase	Reports Updated as of Sep 15, 2022	PubMed
325	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Autosomal recessive	Neurodegenerative disorders	DARS2 aspartyl-tRNA synthetase 2, mitochondrial	Reports Updated as of Jan 05, 2026	PubMed
326	Linear nevus sebaceus syndrome Somatic mosaicism	Skin disorders	KRAS KRAS proto-oncogene, GTPase	Reports Updated as of Jan 04, 2024	PubMed
327	Lipid proteinosis Autosomal recessive	Metabolic disorders	ECM1 extracellular matrix protein 1	Reports Updated as of Feb 01, 2024	PubMed
328	Lipomatosis, multiple symmetric Autosomal dominant, Autosomal recessive, MT inheritance	Skin disorders	MFN2 mitofusin 2	Reports Updated as of Jan 04, 2024	PubMed
329	Lowe syndrome X-linked dominant	Metabolic disorders	OCRL OCRL inositol polyphosphate-5-phosphatase	Reports Updated as of Sep 05, 2023	PubMed
330	Lysinuric protein intolerance Autosomal recessive	Metabolic disorders	SLC7A7 solute carrier family 7 member 7	Reports Updated as of Feb 01, 2024	PubMed

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