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
141	Familial amyloid nephropathy with urticaria and deafness Autosomal dominant	Nephrological disorders	NLRP3 NLR family pyrin domain containing 3	Reports Updated as of Feb 01, 2024	PubMed
142	Familial benign pemphigus Autosomal dominant	Skin disorders	ATP2C1 ATPase secretory pathway Ca2+ transporting 1	Reports Updated as of Jul 20, 2024	PubMed
143	Familial dysautonomia Autosomal recessive	Neuromuscular disorders	ELP1 elongator acetyltransferase complex subunit 1	Reports Updated as of Feb 01, 2025	PubMed
144	Familial juvenile hyperuricemic nephropathy type 1 Autosomal dominant	Nephrological disorders	UMOD uromodulin	Reports Updated as of Mar 09, 2023	PubMed
145	Familial mediterranean fever Autosomal dominant, Autosomal recessive	Immune disorders	MEFV MEFV innate immunity regulator, pyrin	Reports Updated as of Mar 09, 2023	PubMed
146	Familial partial lipodystrophy Autosomal dominant	Metabolic disorders	LMNA lamin A/C	Reports Updated as of Jan 04, 2024	PubMed
147	Familial spontaneous pneumothorax Autosomal dominant	Respiratory disorders	FLCN folliculin	Reports Updated as of Feb 20, 2024	PubMed
148	Farber lipogranulomatosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	ASAH1 N-acylsphingosine amidohydrolase 1	Reports Updated as of Sep 15, 2022	PubMed
149	Fibrosis of extraocular muscles, congenital, 2 Autosomal recessive	Neuromuscular disorders	PHOX2A paired like homeobox 2A	Reports Updated as of Feb 01, 2025	PubMed
150	Fibrous dysplasia of jaw Autosomal dominant	Bone disorders	SH3BP2 SH3 domain binding protein 2	Reports Updated as of Mar 09, 2023	PubMed

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