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
291	Hypohidrotic X-linked ectodermal dysplasia X-linked recessive	Skin disorders	EDA ectodysplasin A	Reports Updated as of Apr 28, 2026	PubMed
292	Hypoparathyroidism-retardation-dysmorphism syndrome Autosomal recessive	Multisystemic disorders	TBCE tubulin folding cofactor E	Reports Updated as of Apr 28, 2026	PubMed
293	Hypoparathyroidism, deafness, renal disease syndrome Autosomal dominant	Multisystemic disorders	GATA3 GATA binding protein 3	Reports Updated as of Mar 09, 2023	PubMed
294	Hypophosphatasia Autosomal dominant, Autosomal recessive	Metabolic disorders	ALPL alkaline phosphatase, biomineralization associated	Reports Updated as of Sep 05, 2023	PubMed
295	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
296	Ichthyosis bullosa of Siemens Autosomal dominant	Skin disorders	KRT2 keratin 2	Reports Updated as of Dec 29, 2023	PubMed
297	Ichthyosis linearis circumflexa Autosomal recessive	Skin disorders	SPINK5 serine peptidase inhibitor Kazal type 5	Reports Updated as of Feb 26, 2025	PubMed
298	Idiopathic pulmonary fibrosis	Respiratory disorders	TERT telomerase reverse transcriptase	Reports Updated as of May 24, 2023	PubMed
299	Imerslund-Grasbeck syndrome type 1 Autosomal recessive	Metabolic disorders	CUBN cubilin	Reports Updated as of Feb 01, 2025	PubMed
300	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

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