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
301	Hereditary liability to pressure palsies Autosomal dominant	Neuromuscular disorders	PMP22 peripheral myelin protein 22	Reports Updated as of Feb 01, 2025	PubMed
302	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
303	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
304	Heterotaxy, visceral, 6, autosomal Autosomal recessive	Cardiovascular disorders	CFAP53 cilia and flagella associated protein 53	Reports Updated as of Mar 30, 2026	PubMed
305	Heterotopia, periventricular, X-linked dominant X-linked dominant	Neuronal disorders	FLNA filamin A	Reports Updated as of Jan 05, 2026	PubMed
306	Holt-Oram syndrome Autosomal dominant	Multisystemic disorders	TBX5 T-box transcription factor 5	Reports Updated as of Nov 12, 2025	PubMed
307	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	MTHFR methylenetetrahydrofolate reductase	Reports Updated as of Feb 26, 2025	PubMed
308	Homozygous familial hypercholesterolemia Autosomal dominant,Autosomal recessive	Metabolic disorders	LDLR low density lipoprotein receptor	Reports Updated as of Aug 17, 2026	PubMed
309	Hutchinson-Gilford syndrome Autosomal dominant, Autosomal recessive	Aging disorders	LMNA lamin A/C	Reports Updated as of Sep 15, 2022	PubMed
310	Hyaline fibromatosis syndrome Autosomal recessive	Bone disorders	ANTXR2 ANTXR cell adhesion molecule 2	Reports Updated as of May 24, 2023	PubMed

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