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
131	Deficiency of acetyl-CoA acetyltransferase Autosomal recessive	Metabolic disorders	ACAT1 acetyl-CoA acetyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
132	Deficiency of alpha-mannosidase Autosomal recessive	Metabolic disorders	MAN2B1 mannosidase alpha class 2B member 1	Reports Updated as of Sep 08, 2025	PubMed
133	Deficiency of aromatic-L-amino-acid decarboxylase Autosomal recessive	Metabolic disorders	DDC dopa decarboxylase	Reports Updated as of Feb 01, 2025	PubMed
134	Deficiency of butyrylcholinesterase Autosomal recessive	Metabolic disorders	BCHE butyrylcholinesterase	Reports Updated as of Feb 20, 2024	PubMed
135	Deficiency of ferroxidase Autosomal recessive	Metabolic disorders	CP ceruloplasmin	Reports Updated as of Mar 09, 2023	PubMed
136	Deficiency of galactokinase Autosomal recessive	Metabolic disorders	GALK1 galactokinase 1	Reports Updated as of Sep 05, 2023	PubMed
137	Deficiency of guanidinoacetate methyltransferase Autosomal recessive	Metabolic disorders	GAMT guanidinoacetate N-methyltransferase	Reports Updated as of Feb 20, 2024	PubMed
138	Deficiency of hyaluronoglucosaminidase Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	HYAL1 hyaluronidase 1	Reports Updated as of Feb 01, 2025	PubMed
139	Deficiency of steroid 11-beta-monooxygenase Autosomal recessive	Endocrine disorders	CYP11B1 cytochrome P450 family 11 subfamily B member 1	Reports Updated as of Sep 08, 2025	PubMed
140	Deficiency of steroid 17-alpha-monooxygenase Autosomal recessive	Endocrine disorders	CYP17A1 cytochrome P450 family 17 subfamily A member 1	Reports Updated as of Sep 08, 2025	PubMed

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