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
261	Hereditary elliptocytosis Autosomal dominant, Autosomal recessive	Blood disorders	EPB41 erythrocyte membrane protein band 4.1	Reports Updated as of Feb 20, 2024	PubMed
262	Hereditary fructosuria Autosomal recessive	Metabolic disorders	ALDOB aldolase, fructose-bisphosphate B	Reports Updated as of Dec 07, 2023	PubMed
263	Hereditary hyperekplexia Autosomal dominant, Autosomal recessive	Neurodevelopmental disorders	GLRA1 glycine receptor alpha 1	Reports Updated as of Mar 09, 2023	PubMed
264	Hereditary insensitivity to pain with anhidrosis Autosomal recessive	Neuronal disorders	NTRK1 neurotrophic receptor tyrosine kinase 1	Reports Updated as of Feb 01, 2025	PubMed
265	Hereditary liability to pressure palsies Autosomal dominant	Neuromuscular disorders	PMP22 peripheral myelin protein 22	Reports Updated as of Feb 01, 2025	PubMed
266	Hermansky-Pudlak syndrome 10 Autosomal recessive	Multisystemic disorders	AP3D1 adaptor related protein complex 3 subunit delta 1	Reports Updated as of Mar 30, 2026	PubMed
267	Hermansky-Pudlak syndrome 4 Autosomal recessive	Multisystemic disorders	HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	Reports Updated as of Feb 10, 2026	PubMed
268	Heterotaxy, visceral, 6, autosomal Autosomal recessive	Cardiovascular disorders	CFAP53 cilia and flagella associated protein 53	Reports Updated as of Mar 30, 2026	PubMed
269	Heterotopia, periventricular, X-linked dominant X-linked dominant	Neuronal disorders	FLNA filamin A	Reports Updated as of Jan 05, 2026	PubMed
270	Holt-Oram syndrome Autosomal dominant	Multisystemic disorders	TBX5 T-box transcription factor 5	Reports Updated as of Nov 12, 2025	PubMed

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