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
81	Charcot-Marie-Tooth disease axonal type 2F Autosomal dominant	Neuromuscular disorders	HSPB1 heat shock protein family B (small) member 1	Reports Updated as of Jun 12, 2025	PubMed
82	Charcot-Marie-Tooth disease axonal type 2S Autosomal recessive	Neuromuscular disorders	IGHMBP2 immunoglobulin mu DNA binding protein 2	Reports Updated as of Jun 12, 2025	PubMed
83	Charcot-Marie-Tooth disease type 4C Autosomal recessive	Neuromuscular disorders	SH3TC2 SH3 domain and tetratricopeptide repeats 2	Reports Updated as of Jun 12, 2025	PubMed
84	Charcot-Marie-Tooth disease type 4D Autosomal recessive	Neuromuscular disorders	NDRG1 N-myc downstream regulated 1	Reports Updated as of Jun 12, 2025	PubMed
85	Charcot-Marie-Tooth disease type 4F Autosomal recessive	Neuromuscular disorders	PRX periaxin	Reports Updated as of Jun 12, 2025	PubMed
86	Charcot-Marie-Tooth disease type 4H Autosomal recessive	Neuromuscular disorders	FGD4 FYVE, RhoGEF and PH domain containing 4	Reports Updated as of Jun 12, 2025	PubMed
87	Charcot-Marie-Tooth disease type 4J Autosomal recessive	Neuromuscular disorders	FIG4 FIG4 phosphoinositide 5-phosphatase	Reports Updated as of Jun 12, 2025	PubMed
88	Charcot-Marie-Tooth disease, demyelinating, type 1J Autosomal dominant	Neuromuscular disorders	ITPR3 inositol 1,4,5-trisphosphate receptor type 3	Reports Updated as of Jun 12, 2025	PubMed
89	Charcot-Marie-Tooth disease, type IA Autosomal dominant	Neuromuscular disorders	PMP22 peripheral myelin protein 22	Reports Updated as of Jun 12, 2025	PubMed
90	Charlevoix-Saguenay spastic ataxia Autosomal recessive	Neurodegenerative disorders	SACS sacsin molecular chaperone	Reports Updated as of Feb 01, 2025	PubMed

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