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
61	Brown-Vialetto-van Laere syndrome 1 Autosomal recessive	Neurodegenerative disorders	SLC52A3 solute carrier family 52 member 3	Reports Updated as of Feb 20, 2024	PubMed
62	Brown-Vialetto-van Laere syndrome 2 Autosomal recessive	Neuromuscular disorders	SLC52A2 solute carrier family 52 member 2	Reports Updated as of Feb 01, 2025	PubMed
63	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Autosomal recessive	Bone disorders	PRG4 proteoglycan 4	Reports Updated as of Mar 09, 2023	PubMed
64	Camptomelic dysplasia Autosomal dominant	Bone disorders	SOX9 SRY-box transcription factor 9	Reports Updated as of Nov 02, 2023	PubMed
65	Canavan disease Autosomal recessive	Neurodegenerative disorders	ASPA aspartoacylase	Reports Updated as of Sep 15, 2022	PubMed
66	Cardiomyopathy, familial restrictive, 1 Autosomal dominant	Cardiovascular disorders	TNNI3 troponin I3, cardiac type	Reports Updated as of Feb 01, 2025	PubMed
67	Carnitine acylcarnitine translocase deficiency Autosomal recessive	Metabolic disorders	SLC25A20 solute carrier family 25 member 20	Reports Updated as of Feb 01, 2025	PubMed
68	CEDNIK syndrome Autosomal recessive	Skin disorders	SNAP29 synaptosome associated protein 29	Reports Updated as of Nov 30, 2023	PubMed
69	Central core myopathy Autosomal dominant	Neuromuscular disorders	RYR1 ryanodine receptor 1	Reports Updated as of Nov 30, 2023	PubMed
70	Cerebellar ataxia-hypogonadism syndrome Autosomal recessive	Multisystemic disorders	RNF216 ring finger protein 216	Reports Updated as of Feb 01, 2025	PubMed

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