GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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
441	Naegeli-Franceschetti-Jadassohn syndrome Autosomal dominant	Skin disorders	KRT14 keratin 14	Reports Updated as of Feb 01, 2024	PubMed
442	Nager syndrome Autosomal dominant	Bone disorders	SF3B4 splicing factor 3b subunit 4	Reports Updated as of Feb 01, 2024	PubMed
443	Nail-patella syndrome Autosomal dominant	Bone disorders	LMX1B LIM homeobox transcription factor 1 beta	Reports Updated as of Feb 01, 2024	PubMed
444	Nance-Horan syndrome X-linked recessive	Eye disorders	NHS NHS actin remodeling regulator	Reports Updated as of Feb 01, 2024	PubMed
445	Naxos disease Autosomal recessive	Cardiovascular disorders	JUP junction plakoglobin	Reports Updated as of Feb 01, 2024	PubMed
446	Neonatal ichthyosis-sclerosing cholangitis syndrome Autosomal recessive	Multisystemic disorders	CLDN1 claudin 1	Reports Updated as of Jan 05, 2026	PubMed
447	Neonatal severe primary hyperparathyroidism Autosomal dominant, Autosomal recessive	Endocrine disorders	CASR calcium sensing receptor	Reports Updated as of Jan 05, 2026	PubMed
448	Nephrotic syndrome, type 12 Autosomal recessive	Nephrological disorders	NUP93 nucleoporin 93	Reports Updated as of Aug 17, 2026	PubMed
449	Nephrotic syndrome, type 9 Autosomal recessive	Nephrological disorders	COQ8B coenzyme Q8B	Reports Updated as of Aug 17, 2026	PubMed
450	Netherton syndrome Autosomal recessive	Skin disorders	SPINK5 serine peptidase inhibitor Kazal type 5	Reports Updated as of Mar 09, 2023	PubMed

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