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
151	Filippi syndrome Autosomal recessive	Bone disorders	CKAP2L cytoskeleton associated protein 2 like	Reports Updated as of Dec 07, 2023	PubMed
152	Floating-Harbor syndrome Autosomal dominant	Bone disorders	SRCAP Snf2 related CREBBP activator protein	Reports Updated as of Dec 07, 2023	PubMed
153	Focal dermal hypoplasia X-linked recessive	Skin disorders	PORCN porcupine O-acyltransferase	Reports Updated as of Dec 07, 2023	PubMed
154	Fragile X syndrome X-linked recessive	Neurodevelopmental disorders	FMR1 fragile X messenger ribonucleoprotein 1	Reports Updated as of Sep 05, 2023	PubMed
155	Friedreich ataxia Autosomal recessive	Neurodegenerative disorders	FXN frataxin	Reports Updated as of Sep 05, 2023	PubMed
156	Fumarase deficiency Autosomal recessive	Metabolic disorders	FH fumarate hydratase	Reports Updated as of Feb 20, 2024	PubMed
157	Galactose epimerase deficiency Autosomal recessive	Metabolic disorders	GALE UDP-galactose-4-epimerase	Reports Updated as of Sep 05, 2023	PubMed
158	GAPO syndrome Autosomal recessive	Developmental / Multisystemic disorders	ANTXR1 ANTXR cell adhesion molecule 1	Reports Updated as of Dec 07, 2023	PubMed
159	Ghosal hematodiaphyseal dysplasia Autosomal recessive	Bone disorders	TBXAS1 thromboxane A synthase 1	Reports Updated as of Dec 07, 2023	PubMed
160	Giant axonal neuropathy 1 Autosomal recessive	Neurodegenerative disorders	GAN gigaxonin	Reports Updated as of Feb 01, 2025	PubMed

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