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
211	Duchenne muscular dystrophy X-linked dominant	Neuromuscular disorders	DMD dystrophin	Reports Updated as of Sep 15, 2022	PubMed
212	Dworschak-Punetha neurodevelopmental syndrome Autosomal recessive	Neurodevelopmental disorders	PLXNA1 plexin A1	Reports Updated as of Aug 17, 2026	PubMed
213	Dyggve-Melchior-Clausen syndrome Autosomal recessive	Multisystemic disorders	DYM dymeclin	Reports Updated as of Nov 12, 2025	PubMed
214	Dysosteosclerosis Autosomal recessive, X-linked recessive	Bone disorders	TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	Reports Updated as of Aug 17, 2026	PubMed
215	Dystonia 12 Autosomal dominant	Neurodevelopmental disorders	ATP1A3 ATPase Na+/K+ transporting subunit alpha 3	Reports Updated as of Jan 04, 2024	PubMed
216	Dystonia 28 Autosomal dominant	Neurodevelopmental disorders	KMT2B lysine methyltransferase 2B	Reports Updated as of Mar 09, 2023	PubMed
217	Early-onset generalized limb-onset dystonia Autosomal dominant	Neuromuscular disorders	TOR1A torsin family 1 member A	Reports Updated as of Mar 09, 2023	PubMed
218	EAST syndrome Autosomal recessive	Neurodevelopmental disorders	KCNJ10 potassium inwardly rectifying channel subfamily J member 10	Reports Updated as of Dec 29, 2023	PubMed
219	Ehlers-Danlos syndrome, kyphoscoliotic type 1 Autosomal recessive	Multisystemic disorders	PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	Reports Updated as of Aug 17, 2026	PubMed
220	Ehlers-Danlos syndrome, musculocontractural type 1 Autosomal recessive	Multisystemic disorders	CHST14 carbohydrate sulfotransferase 14	Reports Updated as of Aug 17, 2026	PubMed

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