GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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
101	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Autosomal recessive	Bone disorders	PRG4 proteoglycan 4	Reports Updated as of Mar 09, 2023	PubMed
102	Camptomelic dysplasia Autosomal dominant	Bone disorders	SOX9 SRY-box transcription factor 9	Reports Updated as of Nov 30, 2023	PubMed
103	Canavan disease Autosomal recessive	Neurodegenerative disorders	ASPA aspartoacylase	Reports Updated as of Sep 15, 2022	PubMed
104	Cardiofaciocutaneous syndrome 3 Autosomal dominant	Multisystemic disorders	MAP2K1 mitogen-activated protein kinase kinase 1	Reports Updated as of Mar 30, 2026	PubMed
105	Cardiomyopathy, familial restrictive, 1 Autosomal dominant	Cardiovascular disorders	TNNI3 troponin I3, cardiac type	Reports Updated as of Feb 01, 2025	PubMed
106	Cardiospondylocarpofacial syndrome Autosomal dominant	Multisystemic disorders	MAP3K7 mitogen-activated protein kinase kinase kinase 7	Reports Updated as of Jan 05, 2026	PubMed
107	Carnitine acylcarnitine translocase deficiency Autosomal recessive	Metabolic disorders	SLC25A20 solute carrier family 25 member 20	Reports Updated as of Feb 01, 2025	PubMed
108	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY Autosomal dominant	Multisystemic disorders	FAR1 fatty acyl-CoA reductase 1	Reports Updated as of Feb 10, 2026	PubMed
109	CEDNIK syndrome Autosomal recessive	Skin disorders	SNAP29 synaptosome associated protein 29	Reports Updated as of Nov 30, 2023	PubMed
110	Cenani-Lenz syndactyly syndrome Autosomal recessive	Bone disorders	LRP4 LDL receptor related protein 4	Reports Updated as of Aug 17, 2026	PubMed

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