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
531	Spinocerebellar ataxia type 5 Autosomal dominant	Neurodegenerative disorders	SPTBN2 spectrin beta, non-erythrocytic 2	Reports Updated as of Apr 17, 2024	PubMed
532	Spinocerebellar ataxia type 6 Autosomal dominant	Neurodegenerative disorders	CACNA1A calcium voltage-gated channel subunit alpha1 A	Reports Updated as of Apr 17, 2024	PubMed
533	Spinocerebellar ataxia type 7 Autosomal dominant	Neurodegenerative disorders	ATXN7 ataxin 7	Reports Updated as of Apr 17, 2024	PubMed
534	Spinocerebellar ataxia type 8 Autosomal dominant	Neurodegenerative disorders	ATXN8OS ATXN8 opposite strand lncRNA	Reports Updated as of Apr 17, 2024	PubMed
535	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Autosomal recessive	Neurodegenerative disorders	SETX senataxin	Reports Updated as of Mar 30, 2026	PubMed
536	Split hand-foot malformation 4 Autosomal dominant	Bone disorders	TP63 tumor protein p63	Reports Updated as of Mar 30, 2026	PubMed
537	Split hand-foot malformation 6 Autosomal recessive	Bone disorders	WNT10B Wnt family member 10B	Reports Updated as of Mar 30, 2026	PubMed
538	Sponastrime dysplasia Autosomal recessive	Bone disorders	TONSL tonsoku like, DNA repair protein	Reports Updated as of Jan 05, 2026	PubMed
539	Spondyloepiphyseal dysplasia with congenital joint dislocations Autosomal recessive	Bone disorders	CHST3 carbohydrate sulfotransferase 3	Reports Updated as of Mar 09, 2023	PubMed
540	Steatocystoma multiplex Autosomal dominant	Skin disorders	KRT17 keratin 17	Reports Updated as of Dec 29, 2023	PubMed

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