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
211	Fanconi-Bickel syndrome Autosomal recessive	Metabolic disorders	SLC2A2 solute carrier family 2 member 2	Reports Updated as of Sep 08, 2025	PubMed
212	Farber lipogranulomatosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	ASAH1 N-acylsphingosine amidohydrolase 1	Reports Updated as of Sep 15, 2022	PubMed
213	Fibrosis of extraocular muscles, congenital, 2 Autosomal recessive	Neuromuscular disorders	PHOX2A paired like homeobox 2A	Reports Updated as of Feb 01, 2025	PubMed
214	Fibrous dysplasia of jaw Autosomal dominant	Bone disorders	SH3BP2 SH3 domain binding protein 2	Reports Updated as of Mar 09, 2023	PubMed
215	Filippi syndrome Autosomal recessive	Bone disorders	CKAP2L cytoskeleton associated protein 2 like	Reports Updated as of Dec 07, 2023	PubMed
216	Floating-Harbor syndrome Autosomal dominant	Bone disorders	SRCAP Snf2 related CREBBP activator protein	Reports Updated as of Dec 07, 2023	PubMed
217	Focal dermal hypoplasia X-linked recessive	Skin disorders	PORCN porcupine O-acyltransferase	Reports Updated as of Dec 07, 2023	PubMed
218	Fragile X syndrome X-linked recessive	Neurodevelopmental disorders	FMR1 fragile X messenger ribonucleoprotein 1	Reports Updated as of Sep 05, 2023	PubMed
219	Frasier syndrome Autosomal dominant	Multisystemic disorders	WT1 WT1 transcription factor	Reports Updated as of Feb 10, 2026	PubMed
220	FRAXE X-linked recessive	Neurodevelopmental disorders	AFF2 ALF transcription elongation factor 2	Reports Updated as of Mar 30, 2026	PubMed

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