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
311	Kindler syndrome Autosomal recessive	Skin disorders	FERMT1 FERM domain containing kindlin 1	Reports Updated as of Jun 12, 2025	PubMed
312	Klippel-Feil syndrome 2, autosomal recessive Autosomal recessive	Bone disorders	MEOX1 mesenchyme homeobox 1	Reports Updated as of Feb 01, 2025	PubMed
313	Koolen-de Vries syndrome Autosomal dominant	Neurodevelopmental disorders	KANSL1 KAT8 regulatory NSL complex subunit 1	Reports Updated as of Jan 05, 2026	PubMed
314	Krabbe disease Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	PSAP prosaposin	Reports Updated as of May 24, 2023	PubMed
315	Kufor-Rakeb syndrome Autosomal recessive	Neurodegenerative disorders	ATP13A2 ATPase cation transporting 13A2	Reports Updated as of Feb 10, 2026	PubMed
316	L-2-hydroxyglutaric aciduria Autosomal recessive	Metabolic disorders	L2HGDH L-2-hydroxyglutarate dehydrogenase	Reports Updated as of Jan 05, 2026	PubMed
317	Lacrimoauriculodentodigital syndrome Autosomal dominant	Oral disorders	FGF10 fibroblast growth factor 10	Reports Updated as of Feb 01, 2024	PubMed
318	LAMA2-related muscular dystrophy Autosomal recessive	Neuromuscular disorders	LAMA2 laminin subunit alpha 2	Reports Updated as of Feb 26, 2025	PubMed
319	Langer mesomelic dysplasia syndrome Autosomal recessive	Bone disorders	SHOX SHOX homeobox	Reports Updated as of Feb 01, 2024	PubMed
320	Laron-type isolated somatotropin defect Autosomal recessive	Endocrine disorders	GHR growth hormone receptor	Reports Updated as of Sep 08, 2025	PubMed

First «30 31 32 33 34 »Last 60 pages