GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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
81	Bartter disease type 5 X-linked dominant	Nephrological disorders	MAGED2 MAGE family member D2	Reports Updated as of Jul 20, 2024	PubMed
82	Becker muscular dystrophy X-linked recessive	Neuromuscular disorders	DMD dystrophin	Reports Updated as of Feb 10, 2026	PubMed
83	Becker nevus syndrome Somatic mutation	Skin disorders	ACTB actin beta	Reports Updated as of Mar 09, 2023	PubMed
84	Benign recurrent intrahepatic cholestasis type 2 Autosomal recessive	Liver disorders	ABCB11 ATP binding cassette subfamily B member 11	Reports Updated as of Feb 10, 2026	PubMed
85	BENTA disease Autosomal dominant	Immune disorders	CARD11 caspase recruitment domain family member 11	Reports Updated as of Mar 09, 2023	PubMed
86	beta Thalassemia Autosomal dominant, Autosomal recessive	Blood disorders	HBB hemoglobin subunit beta	Reports Updated as of Nov 30, 2023	PubMed
87	Beta-D-mannosidosis Autosomal recessive	Metabolic disorders	MANBA mannosidase beta	Reports Updated as of Sep 08, 2025	PubMed
88	Bilateral frontoparietal polymicrogyria Autosomal recessive	Neurodevelopmental disorders	ADGRG1 adhesion G protein-coupled receptor G1	Reports Updated as of Jan 05, 2026	PubMed
89	Biotin-responsive basal ganglia disease Autosomal recessive	Metabolic disorders	SLC19A3 solute carrier family 19 member 3	Reports Updated as of Jan 05, 2026	PubMed
90	Biotinidase deficiency Autosomal recessive	Metabolic disorders	BTD biotinidase	Reports Updated as of Sep 15, 2022	PubMed

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