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 (Gentigs update) Modes of inheritance	Category	Gene symbol	Links	Indian context
111	Fabry disease (Mar 09, 2023) X-linked recessive, X-linked dominant	Metabolic disorders/Lysosomal storage disorders	GLA galactosidase alpha	PubMed	Reports
112	Factor VII deficiency (Nov 30, 2023) Autosomal dominant, Autosomal recessive	Blood disorders	F7 coagulation factor VII	PubMed	Reports
113	Familial amyloid nephropathy with urticaria and deafness (Feb 01, 2024) Autosomal dominant	Nephrological disorders	NLRP3 NLR family pyrin domain containing 3	PubMed	Reports
114	Familial benign pemphigus (Jul 20, 2024) Autosomal dominant	Skin disorders	ATP2C1 ATPase secretory pathway Ca2+ transporting 1	PubMed	Reports
115	Familial juvenile hyperuricemic nephropathy type 1 (Mar 09, 2023) Autosomal dominant	Nephrological disorders	UMOD uromodulin	PubMed	Reports
116	Familial mediterranean fever (Mar 09, 2023) Autosomal dominant, Autosomal recessive	Immune disorders	MEFV MEFV innate immunity regulator, pyrin	PubMed	Reports
117	Familial partial lipodystrophy (Jan 04, 2024) Autosomal dominant	Metabolic disorders	LMNA lamin A/C	PubMed	Reports
118	Familial spontaneous pneumothorax (Feb 20, 2024) Autosomal dominant	Respiratory disorders	FLCN folliculin	PubMed	Reports
119	Farber lipogranulomatosis (Sep 15, 2022) Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	ASAH1 N-acylsphingosine amidohydrolase 1	PubMed	Reports
120	Fibrous dysplasia of jaw (Mar 09, 2023) Autosomal dominant	Bone disorders	SH3BP2 SH3 domain binding protein 2	PubMed	Reports

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