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	Myotonic dystrophy type 2 Autosomal dominant	Neuromuscular disorders	CNBP CCHC-type zinc finger nucleic acid binding protein	Reports Updated as of Nov 30, 2023	PubMed
392	Naegeli-Franceschetti-Jadassohn syndrome Autosomal dominant	Skin disorders	KRT14 keratin 14	Reports Updated as of Feb 01, 2024	PubMed
393	Nager syndrome Autosomal dominant	Bone disorders	SF3B4 splicing factor 3b subunit 4	Reports Updated as of Feb 01, 2024	PubMed
394	Nail-patella syndrome Autosomal dominant	Bone disorders	LMX1B LIM homeobox transcription factor 1 beta	Reports Updated as of Feb 01, 2024	PubMed
395	Nance-Horan syndrome X-linked recessive	Eye disorders	NHS NHS actin remodeling regulator	Reports Updated as of Feb 01, 2024	PubMed
396	Naxos disease Autosomal recessive	Cardiovascular disorders	JUP junction plakoglobin	Reports Updated as of Feb 01, 2024	PubMed
397	Neonatal ichthyosis-sclerosing cholangitis syndrome Autosomal recessive	Multisystemic disorders	CLDN1 claudin 1	Reports Updated as of Jan 05, 2026	PubMed
398	Neonatal severe primary hyperparathyroidism Autosomal dominant, Autosomal recessive	Endocrine disorders	CASR calcium sensing receptor	Reports Updated as of Jan 05, 2026	PubMed
399	Netherton syndrome Autosomal recessive	Skin disorders	SPINK5 serine peptidase inhibitor Kazal type 5	Reports Updated as of Mar 09, 2023	PubMed
400	Neurofibromatosis type 1 Autosomal dominant	Bone disorders	NF1 neurofibromin 1	Reports Updated as of Sep 05, 2023	PubMed

First «38 39 40 41 42 »Last 60 pages