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	Laryngo-onycho-cutaneous syndrome Autosomal recessive	Skin disorders	LAMA3 laminin subunit alpha 3	Reports Updated as of Jun 12, 2025	PubMed
322	Lateral meningocele syndrome Autosomal dominant	Neurodevelopmental disorders	NOTCH3 notch receptor 3	Reports Updated as of Feb 01, 2024	PubMed
323	Lathosterolosis Autosomal recessive	Metabolic disorders	SC5D sterol-C5-desaturase	Reports Updated as of Feb 01, 2024	PubMed
324	Laurence-Moon syndrome Autosomal recessive	Eye disorders	PNPLA6 patatin like phospholipase domain containing 6	Reports Updated as of May 24, 2023	PubMed
325	LCAT deficiency Autosomal recessive	Metabolic disorders	LCAT lecithin-cholesterol acyltransferase	Reports Updated as of Dec 07, 2023	PubMed
326	Leprechaunism syndrome Autosomal recessive	Endocrine disorders	INSR insulin receptor	Reports Updated as of Feb 01, 2024	PubMed
327	Lesch-Nyhan syndrome X-linked dominant	Metabolic disorders	HPRT1 hypoxanthine phosphoribosyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
328	Lethal congenital contracture syndrome 9 Autosomal recessive	Neuromuscular disorders	ADGRG6 adhesion G protein-coupled receptor G6	Reports Updated as of Feb 01, 2025	PubMed
329	Lethal osteosclerotic bone dysplasia Autosomal recessive	Bone disorders	FAM20C FAM20C golgi associated secretory pathway kinase	Reports Updated as of Sep 15, 2022	PubMed
330	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

First «31 32 33 34 35 »Last 60 pages