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
91	Blue rubber bleb nevus Autosomal dominant	Skin disorders	GLMN glomulin, FKBP associated protein	Reports Updated as of Nov 30, 2023	PubMed
92	Borjeson-Forssman-Lehmann syndrome X-linked recessive	Neurodevelopmental disorders	PHF6 PHD finger protein 6	Reports Updated as of Nov 12, 2025	PubMed
93	Brittle cornea syndrome 2 Autosomal recessive	Eye disorders	PRDM5 PR/SET domain 5	Reports Updated as of Jun 12, 2025	PubMed
94	Brooke-Spiegler syndrome Autosomal dominant	Skin disorders	CYLD CYLD lysine 63 deubiquitinase	Reports Updated as of Sep 15, 2022	PubMed
95	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
96	Brown-Vialetto-van Laere syndrome 2 Autosomal recessive	Neuromuscular disorders	SLC52A2 solute carrier family 52 member 2	Reports Updated as of Feb 01, 2025	PubMed
97	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Autosomal recessive	Bone disorders	PRG4 proteoglycan 4	Reports Updated as of Mar 09, 2023	PubMed
98	Camptomelic dysplasia Autosomal dominant	Bone disorders	SOX9 SRY-box transcription factor 9	Reports Updated as of Nov 30, 2023	PubMed
99	Canavan disease Autosomal recessive	Neurodegenerative disorders	ASPA aspartoacylase	Reports Updated as of Sep 15, 2022	PubMed
100	Cardiofaciocutaneous syndrome 3 Autosomal dominant	Multisystemic disorders	MAP2K1 mitogen-activated protein kinase kinase 1	Reports Updated as of Mar 30, 2026	PubMed

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