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
331	Macular corneal dystrophy Autosomal recessive	Eye disorders	CHST6 carbohydrate sulfotransferase 6	Reports Updated as of Feb 01, 2024	PubMed
332	Majeed syndrome Autosomal recessive	Bone disorders	LPIN2 lipin 2	Reports Updated as of Feb 01, 2024	PubMed
333	Mantle cell lymphoma	Cancer disorders	ATM ATM serine/threonine kinase	Reports Updated as of Feb 01, 2024	PubMed
334	Map-dot-fingerprint corneal dystrophy Autosomal dominant	Eye disorders	TGFBI transforming growth factor beta induced	Reports Updated as of Dec 07, 2023	PubMed
335	Marinesco-Sjögren syndrome Autosomal recessive	Neurodegenerative disorders	SIL1 SIL1 nucleotide exchange factor	Reports Updated as of Feb 01, 2025	PubMed
336	Maturity onset diabetes mellitus in young (MODY) Autosomal dominant	Metabolic disorders	HNF4A hepatocyte nuclear factor 4 alpha	Reports Updated as of Jan 04, 2024	PubMed
337	Maturity-onset diabetes of the young type 4 Autosomal dominant	Metabolic disorders	PDX1 pancreatic and duodenal homeobox 1	Reports Updated as of Feb 10, 2026	PubMed
338	Menkes disease X-linked dominant	Metabolic disorders	ATP7A ATPase copper transporting alpha	Reports Updated as of Sep 15, 2022	PubMed
339	Merosin deficient congenital muscular dystrophy Autosomal recessive	Neuromuscular disorders	LAMA2 laminin subunit alpha 2	Reports Updated as of Feb 04, 2025	PubMed
340	Mesoaxial synostotic syndactyly with phalangeal reduction Autosomal recessive	Bone disorders	BHLHA9 basic helix-loop-helix family member a9	Reports Updated as of Feb 01, 2024	PubMed

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