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
401	Trichorhinophalangeal syndrome Autosomal dominant	Bone disorders	TRPS1 transcriptional repressor GATA binding 1	Reports Updated as of Dec 29, 2023	PubMed
402	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
403	Trimethylaminuria Autosomal recessive	Metabolic disorders	FMO3 flavin containing dimethylaniline monoxygenase 3	Reports Updated as of Mar 09, 2023	PubMed
404	Tyrosinemia type 1 Autosomal recessive	Metabolic disorders	FAH fumarylacetoacetate hydrolase	Reports Updated as of Dec 29, 2023	PubMed
405	Ulcerative colitis	Gastrointestinal disorders	NOD2 nucleotide binding oligomerization domain containing 2	Reports Updated as of Sep 05, 2023	PubMed
406	Van der Woude syndrome 2 Autosomal dominant	Oral disorders	GRHL3 grainyhead like transcription factor 3	Reports Updated as of Nov 02, 2023	PubMed
407	Variegate porphyria Autosomal dominant	Metabolic disorders	PPOX protoporphyrinogen oxidase	Reports Updated as of Jan 04, 2024	PubMed
408	Vasculitis	Immune disorders	ADA2 adenosine deaminase 2	Reports Updated as of Sep 05, 2023	PubMed
409	Vitamin K-dependent clotting factors, combined deficiency of, type 1 Autosomal recessive	Blood disorders	GGCX gamma-glutamyl carboxylase	Reports Updated as of Nov 30, 2023	PubMed
410	Von Hippel-Lindau syndrome Autosomal dominant	Cancer disorders	VHL von Hippel-Lindau tumor suppressor	Reports Updated as of Sep 05, 2023	PubMed

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