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 (Gentigs update) Modes of inheritance	Category	Gene symbol	Links	Indian context
101	Doyne honeycomb retinal dystrophy (Dec 07, 2023) Autosomal dominant	Eye disorders	EFEMP1 EGF containing fibulin extracellular matrix protein 1	PubMed	Reports
102	Dubowitz syndrome (Dec 29, 2023) Autosomal recessive	Skin disorders	NSUN2 NOP2/Sun RNA methyltransferase 2	PubMed	Reports
103	Duchenne muscular dystrophy (Sep 15, 2022) X-linked dominant	Neuromuscular disorders	DMD dystrophin	PubMed	Reports
104	Dystonia 12 (Jan 04, 2024) Autosomal dominant	Neurodevelopmental disorders	ATP1A3 ATPase Na+/K+ transporting subunit alpha 3	PubMed	Reports
105	Dystonia 28 (Mar 09, 2023) Autosomal dominant	Neurodevelopmental disorders	KMT2B lysine methyltransferase 2B	PubMed	Reports
106	Early-onset generalized limb-onset dystonia (Mar 09, 2023) Autosomal dominant	Neuromuscular disorders	TOR1A torsin family 1 member A	PubMed	Reports
107	EAST syndrome (Dec 29, 2023) Autosomal recessive	Neurodevelopmental disorders	KCNJ10 potassium inwardly rectifying channel subfamily J member 10	PubMed	Reports
108	Encephalocraniocutaneous lipomatosis (Dec 07, 2023) Somatic mosaicism	Neuronal disorders	FGFR1 fibroblast growth factor receptor 1	PubMed	Reports
109	Essential thrombocythemia (Dec 07, 2023) Autosomal dominant, X-linked dominant	Blood disorders	MPL MPL proto-oncogene, thrombopoietin receptor	PubMed	Reports
110	Ethylmalonic encephalopathy (Dec 07, 2023) Autosomal recessive	Metabolic disorders	ETHE1 ETHE1 persulfide dioxygenase	PubMed	Reports

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