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
621	TNF receptor-associated periodic fever syndrome Autosomal dominant	Immune disorders	TNFRSF1A TNF receptor superfamily member 1A	Reports Updated as of Sep 05, 2023	PubMed
622	Torsion dystonia 4 Autosomal dominant	Neuromuscular disorders	TUBB4A tubulin beta 4A class IVa	Reports Updated as of Aug 17, 2026	PubMed
623	Townes-Brocks syndrome 1 Autosomal dominant	Multisystemic disorders	SALL1 spalt like transcription factor 1	Reports Updated as of Aug 17, 2026	PubMed
624	Transcobalamin II deficiency Autosomal recessive	Metabolic disorders	TCN2 transcobalamin 2	Reports Updated as of Jan 05, 2026	PubMed
625	Transverse myelitis	Immune disorders	VPS37A VPS37A subunit of ESCRT-I	Reports Updated as of Sep 05, 2023	PubMed
626	Treacher Collins syndrome 1 Autosomal dominant	Bone disorders	TCOF1 treacle ribosome biogenesis factor 1	Reports Updated as of Feb 10, 2026	PubMed
627	Trichorhinophalangeal dysplasia type I Autosomal dominant	Multisystemic disorders	TRPS1 transcriptional repressor GATA binding 1	Reports Updated as of Jan 05, 2026	PubMed
628	Trichorhinophalangeal syndrome Autosomal dominant	Bone disorders	TRPS1 transcriptional repressor GATA binding 1	Reports Updated as of Dec 29, 2023	PubMed
629	Triglyceride storage disease with ichthyosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	Reports Updated as of Mar 09, 2023	PubMed
630	Trigonocephaly-short stature-developmental delay syndrome X-linked recessive	Neurodevelopmental disorders	HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	Reports Updated as of Nov 12, 2025	PubMed

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