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
391	Naxos disease Autosomal recessive	Cardiovascular disorders	JUP junction plakoglobin	Reports Updated as of Feb 01, 2024	PubMed
392	Neonatal ichthyosis-sclerosing cholangitis syndrome Autosomal recessive	Multisystemic disorders	CLDN1 claudin 1	Reports Updated as of Jan 05, 2026	PubMed
393	Neonatal severe primary hyperparathyroidism Autosomal dominant, Autosomal recessive	Endocrine disorders	CASR calcium sensing receptor	Reports Updated as of Jan 05, 2026	PubMed
394	Netherton syndrome Autosomal recessive	Skin disorders	SPINK5 serine peptidase inhibitor Kazal type 5	Reports Updated as of Mar 09, 2023	PubMed
395	Neurofibromatosis type 1 Autosomal dominant	Bone disorders	NF1 neurofibromin 1	Reports Updated as of Sep 05, 2023	PubMed
396	Neurofibromatosis type 2 Autosomal dominant	Tumor/Cancer	NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	Reports Updated as of Sep 05, 2023	PubMed
397	Neuromyelitis optica spectrum disorder	Eye disorders	AQP4 aquaporin 4	Reports Updated as of Sep 05, 2023	PubMed
398	Neutral 1 amino acid transport defect Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	SLC6A19 solute carrier family 6 member 19	Reports Updated as of Mar 30, 2026	PubMed
399	Neutral lipid storage myopathy Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	PNPLA2 patatin like phospholipase domain containing 2	Reports Updated as of Jan 04, 2024	PubMed
400	Niemann-Pick disease, type B Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	SMPD1 sphingomyelin phosphodiesterase 1	Reports Updated as of Sep 15, 2022	PubMed

First «38 39 40 41 42 »Last 59 pages