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
331	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Autosomal recessive	Neurodevelopmental disorders	NALCN sodium leak channel, non-selective	Reports Updated as of Feb 26, 2025	PubMed
332	Ichthyosis bullosa of Siemens Autosomal dominant	Skin disorders	KRT2 keratin 2	Reports Updated as of Dec 29, 2023	PubMed
333	Ichthyosis linearis circumflexa Autosomal recessive	Skin disorders	SPINK5 serine peptidase inhibitor Kazal type 5	Reports Updated as of Feb 26, 2025	PubMed
334	Idiopathic pulmonary fibrosis	Respiratory disorders	TERT telomerase reverse transcriptase	Reports Updated as of May 24, 2023	PubMed
335	Imerslund-Grasbeck syndrome type 1 Autosomal recessive	Metabolic disorders	CUBN cubilin	Reports Updated as of Feb 01, 2025	PubMed
336	Incontinentia pigmenti syndrome X-linked dominant	Multisystemic disorders	IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	Reports Updated as of Nov 12, 2025	PubMed
337	Infantile GM1 gangliosidosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GLB1 galactosidase beta 1	Reports Updated as of Mar 09, 2023	PubMed
338	Infantile neuroaxonal dystrophy Autosomal recessive	Neurodegenerative disorders	PLA2G6 phospholipase A2 group VI	Reports Updated as of Feb 01, 2025	PubMed
339	Insulin autoimmune syndrome	Endocrine disorders	AIRE autoimmune regulator	Reports Updated as of Feb 20, 2024	PubMed
340	Intellectual developmental disorder 62 Autosomal dominant	Neurodevelopmental disorders	DLG4 discs large MAGUK scaffold protein 4	Reports Updated as of Aug 17, 2026	PubMed

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