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
501	Trichorhinophalangeal dysplasia type I Autosomal dominant	Multisystemic disorders	TRPS1 transcriptional repressor GATA binding 1	Reports Updated as of Jan 05, 2026	PubMed
502	Trichorhinophalangeal syndrome Autosomal dominant	Bone disorders	TRPS1 transcriptional repressor GATA binding 1	Reports Updated as of Dec 29, 2023	PubMed
503	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
504	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
505	Trimethylaminuria Autosomal recessive	Metabolic disorders	FMO3 flavin containing dimethylaniline monoxygenase 3	Reports Updated as of Mar 09, 2023	PubMed
506	Tyrosinemia type 1 Autosomal recessive	Metabolic disorders	FAH fumarylacetoacetate hydrolase	Reports Updated as of Dec 29, 2023	PubMed
507	Ulcerative colitis	Gastrointestinal disorders	NOD2 nucleotide binding oligomerization domain containing 2	Reports Updated as of Sep 05, 2023	PubMed
508	Upshaw-Schulman syndrome Autosomal recessive	Blood disorders	ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13	Reports Updated as of Jan 05, 2026	PubMed
509	Variegate porphyria Autosomal dominant	Metabolic disorders	PPOX protoporphyrinogen oxidase	Reports Updated as of Jan 04, 2024	PubMed
510	Vasculitis	Immune disorders	ADA2 adenosine deaminase 2	Reports Updated as of Sep 05, 2023	PubMed

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