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	Metachromatic leukodystrophy Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	ARSA arylsulfatase A PSAP prosaposin ARSB arylsulfatase B	Reports Updated as of Nov 30, 2023	PubMed
162	Methylmalonic acidemia Autosomal recessive	Metabolic disorders	MCEE methylmalonyl-CoA epimerase ABCD4 ATP binding cassette subfamily D member 4 HCFC1 host cell factor C1 MMUT methylmalonyl-CoA mutase CD320 CD320 molecule MMAB metabolism of cobalamin associated B THAP11 THAP domain containing 11 MMAA metabolism of cobalamin associated A ACSF3 acyl-CoA synthetase family member 3	Reports Updated as of Jan 04, 2024	PubMed
163	MHC class II deficiency Autosomal recessive	Immune disorders	RFXANK regulatory factor X associated ankyrin containing protein RFX5 regulatory factor X5 RFXAP regulatory factor X associated protein CIITA class II major histocompatibility complex transactivator	Reports Updated as of Jul 20, 2024	PubMed
164	Miyoshi muscular dystrophy Autosomal recessive	Neuromuscular disorders	ANO5 anoctamin 5 DYSF dysferlin	Reports Updated as of Feb 01, 2024	PubMed
165	Motor neurone disease	Neuromuscular disorders	C9orf72 C9orf72-SMCR8 complex subunit TARDBP TAR DNA binding protein	Reports Updated as of Sep 15, 2022	PubMed
166	Moyamoya disease Autosomal dominant, Autosomal recessive, X-linked dominant	Neuronal disorders	ACTA2 actin alpha 2, smooth muscle RNF213 ring finger protein 213 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ANO1 anoctamin 1	Reports Updated as of Mar 09, 2023	PubMed
167	Mucopolysaccharidosis type 6 Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	ARSB arylsulfatase B GUSB glucuronidase beta	Reports Updated as of Sep 05, 2023	PubMed
168	Mucopolysaccharidosis, MPS-III-A Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	SGSH N-sulfoglucosamine sulfohydrolase GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Reports Updated as of Feb 01, 2025	PubMed
169	Muir-Torré syndrome Autosomal dominant	Cancer disorders	MSH2 mutS homolog 2 MLH1 mutL homolog 1	Reports Updated as of Feb 01, 2024	PubMed
170	Multicentric osteolysis nodulosis arthropathy Autosomal recessive	Bone disorders	MMP2 matrix metallopeptidase 2 LPCAT2 lysophosphatidylcholine acyltransferase 2	Reports Updated as of Feb 01, 2024	PubMed

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