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
221	Friedreich ataxia Autosomal recessive	Neurodegenerative disorders	FXN frataxin	Reports Updated as of Sep 05, 2023	PubMed
222	Fructose-biphosphatase deficiency Autosomal recessive	Metabolic disorders	FBP1 fructose-bisphosphatase 1	Reports Updated as of Mar 30, 2026	PubMed
223	Fumarase deficiency Autosomal recessive	Metabolic disorders	FH fumarate hydratase	Reports Updated as of Feb 20, 2024	PubMed
224	Gabriele de Vries syndrome Autosomal dominant	Neurodevelopmental disorders	YY1 YY1 transcription factor	Reports Updated as of Feb 10, 2026	PubMed
225	Galactose epimerase deficiency Autosomal recessive	Metabolic disorders	GALE UDP-galactose-4-epimerase	Reports Updated as of Sep 05, 2023	PubMed
226	GAPO syndrome Autosomal recessive	Developmental / Multisystemic disorders	ANTXR1 ANTXR cell adhesion molecule 1	Reports Updated as of Dec 07, 2023	PubMed
227	Gaze palsy, familial horizontal, with progressive scoliosis 1 Autosomal recessive	Neuronal disorders	ROBO3 roundabout guidance receptor 3	Reports Updated as of Jan 05, 2026	PubMed
228	Ghosal hematodiaphyseal dysplasia Autosomal recessive	Bone disorders	TBXAS1 thromboxane A synthase 1	Reports Updated as of Dec 07, 2023	PubMed
229	Giant axonal neuropathy 1 Autosomal recessive	Neurodegenerative disorders	GAN gigaxonin	Reports Updated as of Feb 01, 2025	PubMed
230	Glucocorticoid deficiency with achalasia Autosomal recessive	Endocrine disorders	AAAS aladin WD repeat nucleoporin	Reports Updated as of Dec 29, 2023	PubMed

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