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
351	Metatropic dysplasia Autosomal dominant	Bone disorders	TRPV4 transient receptor potential cation channel subfamily V member 4	Reports Updated as of Feb 01, 2024	PubMed
352	Methylmalonic aciduria, cblB type Autosomal recessive	Metabolic disorders	MMAB metabolism of cobalamin associated B	Reports Updated as of Feb 10, 2026	PubMed
353	Mevalonic aciduria Autosomal recessive	Metabolic disorders	MVK mevalonate kinase	Reports Updated as of Feb 01, 2024	PubMed
354	Microcephaly 14, primary, autosomal recessive Autosomal recessive	Neurodevelopmental disorders	SASS6 SAS-6 centriolar assembly protein	Reports Updated as of Feb 10, 2026	PubMed
355	Microcephaly 16, primary, autosomal recessive Autosomal recessive	Neurodevelopmental disorders	ANKLE2 ankyrin repeat and LEM domain containing 2	Reports Updated as of Feb 10, 2026	PubMed
356	Microcephaly 17, primary, autosomal recessive Autosomal recessive	Neurodevelopmental disorders	CIT citron rho-interacting serine/threonine kinase	Reports Updated as of Feb 10, 2026	PubMed
357	Microcephaly 5, primary, autosomal recessive Autosomal recessive	Neurodevelopmental disorders	ASPM assembly factor for spindle microtubules	Reports Updated as of Feb 01, 2025	PubMed
358	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Autosomal dominant	Multisystemic disorders	KIF11 kinesin family member 11	Reports Updated as of Jan 05, 2026	PubMed
359	Microcephaly, normal intelligence and immunodeficiency Autosomal recessive	Immune disorders	NBN nibrin	Reports Updated as of Feb 26, 2025	PubMed
360	Miller syndrome Autosomal recessive	Bone disorders	DHODH dihydroorotate dehydrogenase (quinone)	Reports Updated as of Jan 04, 2024	PubMed

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