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
551	Transcobalamin II deficiency Autosomal recessive	Metabolic disorders	TCN2 transcobalamin 2	Reports Updated as of Jan 05, 2026	PubMed
552	Transverse myelitis	Immune disorders	VPS37A VPS37A subunit of ESCRT-I	Reports Updated as of Sep 05, 2023	PubMed
553	Treacher Collins syndrome 1 Autosomal dominant	Bone disorders	TCOF1 treacle ribosome biogenesis factor 1	Reports Updated as of Feb 10, 2026	PubMed
554	Trichorhinophalangeal dysplasia type I Autosomal dominant	Multisystemic disorders	TRPS1 transcriptional repressor GATA binding 1	Reports Updated as of Jan 05, 2026	PubMed
555	Trichorhinophalangeal syndrome Autosomal dominant	Bone disorders	TRPS1 transcriptional repressor GATA binding 1	Reports Updated as of Dec 29, 2023	PubMed
556	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
557	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
558	Trimethylaminuria Autosomal recessive	Metabolic disorders	FMO3 flavin containing dimethylaniline monoxygenase 3	Reports Updated as of Mar 09, 2023	PubMed
559	Tyrosinemia type 1 Autosomal recessive	Metabolic disorders	FAH fumarylacetoacetate hydrolase	Reports Updated as of Dec 29, 2023	PubMed
560	Ulcerative colitis	Gastrointestinal disorders	NOD2 nucleotide binding oligomerization domain containing 2	Reports Updated as of Sep 05, 2023	PubMed

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