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 (Gentigs update) Modes of inheritance	Category	Gene symbol	Links	Indian context
51	beta Thalassemia (Nov 10, 2023) Autosomal dominant, Autosomal recessive	Blood disorders	HBB hemoglobin subunit beta	PubMed	Reports
52	Biotinidase deficiency (Sep 15, 2022) Autosomal recessive	Metabolic disorders	BTD biotinidase	PubMed	Reports
53	Blau syndrome (Nov 30, 2023) Autosomal dominant	Immune disorders	NOD2 nucleotide binding oligomerization domain containing 2	PubMed	Reports
54	Bloom syndrome (Nov 30, 2023) Autosomal recessive	Skin disorders	BLM BLM RecQ like helicase	PubMed	Reports
55	Blue rubber bleb nevus (Nov 30, 2023) Autosomal dominant	Skin disorders	GLMN glomulin, FKBP associated protein	PubMed	Reports
56	Brooke-Spiegler syndrome (Sep 15, 2022) Autosomal dominant	Skin disorders	CYLD CYLD lysine 63 deubiquitinase	PubMed	Reports
57	Brown-Vialetto-van Laere syndrome 1 (Feb 20, 2024) Autosomal recessive	Neurodegenerative disorders	SLC52A3 solute carrier family 52 member 3	PubMed	Reports
58	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (Mar 09, 2023) Autosomal recessive	Bone disorders	PRG4 proteoglycan 4	PubMed	Reports
59	Camptomelic dysplasia (Nov 02, 2023) Autosomal dominant	Bone disorders	SOX9 SRY-box transcription factor 9	PubMed	Reports
60	Canavan disease (Sep 15, 2022) Autosomal recessive	Neurodegenerative disorders	ASPA aspartoacylase	PubMed	Reports

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