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
61	Beta-D-mannosidosis Autosomal recessive	Metabolic disorders	MANBA mannosidase beta	Reports Updated as of Sep 08, 2025	PubMed
62	Biotinidase deficiency Autosomal recessive	Metabolic disorders	BTD biotinidase	Reports Updated as of Sep 15, 2022	PubMed
63	Blau syndrome Autosomal dominant	Immune disorders	NOD2 nucleotide binding oligomerization domain containing 2	Reports Updated as of Nov 30, 2023	PubMed
64	Blepharophimosis - intellectual disability syndrome, MKB type X-linked recessive	Neurodevelopmental disorders	MED12 mediator complex subunit 12	Reports Updated as of Nov 12, 2025	PubMed
65	Bloom syndrome Autosomal recessive	Skin disorders	BLM BLM RecQ like helicase	Reports Updated as of Nov 30, 2023	PubMed
66	Blue rubber bleb nevus Autosomal dominant	Skin disorders	GLMN glomulin, FKBP associated protein	Reports Updated as of Nov 30, 2023	PubMed
67	Borjeson-Forssman-Lehmann syndrome X-linked recessive	Neurodevelopmental disorders	PHF6 PHD finger protein 6	Reports Updated as of Nov 12, 2025	PubMed
68	Brittle cornea syndrome 2 Autosomal recessive	Eye disorders	PRDM5 PR/SET domain 5	Reports Updated as of Jun 12, 2025	PubMed
69	Brooke-Spiegler syndrome Autosomal dominant	Skin disorders	CYLD CYLD lysine 63 deubiquitinase	Reports Updated as of Sep 15, 2022	PubMed
70	Brown-Vialetto-van Laere syndrome 1 Autosomal recessive	Neurodegenerative disorders	SLC52A3 solute carrier family 52 member 3	Reports Updated as of Feb 20, 2024	PubMed

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