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
161	Cutaneous porphyria Autosomal recessive	Skin disorders	UROS uroporphyrinogen III synthase	Reports Updated as of Dec 07, 2023	PubMed
162	Cystinosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	CTNS cystinosin, lysosomal cystine transporter	Reports Updated as of Mar 09, 2023	PubMed
163	Deafness-lymphedema-leukemia syndrome Autosomal dominant	Immune disorders	GATA2 GATA binding protein 2	Reports Updated as of Feb 01, 2024	PubMed
164	Deficiency of acetyl-CoA acetyltransferase Autosomal recessive	Metabolic disorders	ACAT1 acetyl-CoA acetyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
165	Deficiency of alpha-mannosidase Autosomal recessive	Metabolic disorders	MAN2B1 mannosidase alpha class 2B member 1	Reports Updated as of Sep 08, 2025	PubMed
166	Deficiency of aromatic-L-amino-acid decarboxylase Autosomal recessive	Metabolic disorders	DDC dopa decarboxylase	Reports Updated as of Feb 01, 2025	PubMed
167	Deficiency of butyrylcholinesterase Autosomal recessive	Metabolic disorders	BCHE butyrylcholinesterase	Reports Updated as of Feb 20, 2024	PubMed
168	Deficiency of cytochrome-b5 reductase Autosomal recessive	Blood disorders	CYB5R3 cytochrome b5 reductase 3	Reports Updated as of Jan 05, 2026	PubMed
169	Deficiency of ferroxidase Autosomal recessive	Metabolic disorders	CP ceruloplasmin	Reports Updated as of Mar 09, 2023	PubMed
170	Deficiency of galactokinase Autosomal recessive	Metabolic disorders	GALK1 galactokinase 1	Reports Updated as of Sep 05, 2023	PubMed

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