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	Tarsal-carpal coalition syndrome Autosomal dominant	Bone disorders	NOG noggin	Reports Updated as of Feb 01, 2024	PubMed
402	Thanatophoric dysplasia Autosomal dominant	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Nov 30, 2023	PubMed
403	TNF receptor-associated periodic fever syndrome Autosomal dominant	Immune disorders	TNFRSF1A TNF receptor superfamily member 1A	Reports Updated as of Sep 05, 2023	PubMed
404	Transverse myelitis	Immune disorders	VPS37A VPS37A subunit of ESCRT-I	Reports Updated as of Sep 05, 2023	PubMed
405	Trichorhinophalangeal syndrome Autosomal dominant	Bone disorders	TRPS1 transcriptional repressor GATA binding 1	Reports Updated as of Dec 29, 2023	PubMed
406	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
407	Trimethylaminuria Autosomal recessive	Metabolic disorders	FMO3 flavin containing dimethylaniline monoxygenase 3	Reports Updated as of Mar 09, 2023	PubMed
408	Tyrosinemia type 1 Autosomal recessive	Metabolic disorders	FAH fumarylacetoacetate hydrolase	Reports Updated as of Dec 29, 2023	PubMed
409	Ulcerative colitis	Gastrointestinal disorders	NOD2 nucleotide binding oligomerization domain containing 2	Reports Updated as of Sep 05, 2023	PubMed
410	Variegate porphyria Autosomal dominant	Metabolic disorders	PPOX protoporphyrinogen oxidase	Reports Updated as of Jan 04, 2024	PubMed

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