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
171	Familial partial lipodystrophy Autosomal dominant	Metabolic disorders	LMNA lamin A/C	Reports Updated as of Jan 04, 2024	PubMed
172	Familial spontaneous pneumothorax Autosomal dominant	Respiratory disorders	FLCN folliculin	Reports Updated as of Feb 20, 2024	PubMed
173	Familial X-linked hypophosphatemic vitamin D refractory rickets X-linked dominant	Bone disorders	PHEX phosphate regulating endopeptidase X-linked	Reports Updated as of Sep 08, 2025	PubMed
174	Fanconi-Bickel syndrome Autosomal recessive	Metabolic disorders	SLC2A2 solute carrier family 2 member 2	Reports Updated as of Sep 08, 2025	PubMed
175	Farber lipogranulomatosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	ASAH1 N-acylsphingosine amidohydrolase 1	Reports Updated as of Sep 15, 2022	PubMed
176	Fibrosis of extraocular muscles, congenital, 2 Autosomal recessive	Neuromuscular disorders	PHOX2A paired like homeobox 2A	Reports Updated as of Feb 01, 2025	PubMed
177	Fibrous dysplasia of jaw Autosomal dominant	Bone disorders	SH3BP2 SH3 domain binding protein 2	Reports Updated as of Mar 09, 2023	PubMed
178	Filippi syndrome Autosomal recessive	Bone disorders	CKAP2L cytoskeleton associated protein 2 like	Reports Updated as of Dec 07, 2023	PubMed
179	Floating-Harbor syndrome Autosomal dominant	Bone disorders	SRCAP Snf2 related CREBBP activator protein	Reports Updated as of Dec 07, 2023	PubMed
180	Focal dermal hypoplasia X-linked recessive	Skin disorders	PORCN porcupine O-acyltransferase	Reports Updated as of Dec 07, 2023	PubMed

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