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
241	Isovaleryl-CoA dehydrogenase deficiency Autosomal recessive	Metabolic disorders	IVD isovaleryl-CoA dehydrogenase	Reports Updated as of Sep 08, 2025	PubMed
242	Johanson-Blizzard syndrome Autosomal recessive	Developmental / Multisystemic disorders	UBR1 ubiquitin protein ligase E3 component n-recognin 1	Reports Updated as of May 24, 2023	PubMed
243	Juvenile retinoschisis X-linked dominant	Eye disorders	RS1 retinoschisin 1	Reports Updated as of Feb 20, 2024	PubMed
244	Karyomegalic interstitial nephritis Autosomal recessive	Nephrological disorders	FAN1 FANCD2 and FANCI associated nuclease 1	Reports Updated as of Feb 01, 2024	PubMed
245	Kearns-Sayre syndrome Autosomal recessive, MT inheritance	Metabolic disorders	MT-TY mitochondrially encoded tRNA tyrosine	Reports Updated as of May 24, 2023	PubMed
246	Kennedy disease X-linked recessive	Neuromuscular disorders	AR androgen receptor	Reports Updated as of Feb 01, 2025	PubMed
247	Kindler syndrome Autosomal recessive	Skin disorders	FERMT1 FERM domain containing kindlin 1	Reports Updated as of Jun 12, 2025	PubMed
248	Klippel-Feil syndrome 2, autosomal recessive Autosomal recessive	Bone disorders	MEOX1 mesenchyme homeobox 1	Reports Updated as of Feb 01, 2025	PubMed
249	Krabbe disease Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	PSAP prosaposin	Reports Updated as of May 24, 2023	PubMed
250	Lacrimoauriculodentodigital syndrome Autosomal dominant	Oral disorders	FGF10 fibroblast growth factor 10	Reports Updated as of Feb 01, 2024	PubMed

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