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
51	Bamforth-Lazarus syndrome Autosomal recessive	Endocrine disorders	FOXE1 forkhead box E1	Reports Updated as of Feb 01, 2024	PubMed
52	Bannayan-Riley-Ruvalcaba syndrome Autosomal dominant	Cancer disorders	PTEN phosphatase and tensin homolog	Reports Updated as of Mar 09, 2023	PubMed
53	Bartter disease type 2 Autosomal recessive	Nephrological disorders	KCNJ1 potassium inwardly rectifying channel subfamily J member 1	Reports Updated as of Jul 20, 2024	PubMed
54	Bartter disease type 5 X-linked dominant	Nephrological disorders	MAGED2 MAGE family member D2	Reports Updated as of Jul 20, 2024	PubMed
55	Becker nevus syndrome Somatic mutation	Skin disorders	ACTB actin beta	Reports Updated as of Mar 09, 2023	PubMed
56	BENTA disease Autosomal dominant	Immune disorders	CARD11 caspase recruitment domain family member 11	Reports Updated as of Mar 09, 2023	PubMed
57	beta Thalassemia Autosomal dominant, Autosomal recessive	Blood disorders	HBB hemoglobin subunit beta	Reports Updated as of Nov 10, 2023	PubMed
58	Biotinidase deficiency Autosomal recessive	Metabolic disorders	BTD biotinidase	Reports Updated as of Sep 15, 2022	PubMed
59	Blau syndrome Autosomal dominant	Immune disorders	NOD2 nucleotide binding oligomerization domain containing 2	Reports Updated as of Nov 30, 2023	PubMed
60	Bloom syndrome Autosomal recessive	Skin disorders	BLM BLM RecQ like helicase	Reports Updated as of Nov 30, 2023	PubMed

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