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
201	Diastrophic dysplasia Autosomal recessive	Bone disorders	SLC26A2 solute carrier family 26 member 2	Reports Updated as of Sep 15, 2022	PubMed
202	Dicarboxylic aminoaciduria Autosomal recessive	Metabolic disorders	SLC1A1 solute carrier family 1 member 1	Reports Updated as of Dec 29, 2023	PubMed
203	Diffuse mesangial sclerosis Autosomal recessive	Nephrological disorders	COL4A4 collagen type IV alpha 4 chain	Reports Updated as of Aug 17, 2026	PubMed
204	Dilated cardiomyopathy 1M Autosomal dominant	Cardiovascular disorders	CSRP3 cysteine and glycine rich protein 3	Reports Updated as of Aug 17, 2026	PubMed
205	Distal arthrogryposis type 5D Autosomal recessive	Neuromuscular disorders	ECEL1 endothelin converting enzyme like 1	Reports Updated as of Feb 01, 2025	PubMed
206	DNA ligase IV deficiency Autosomal recessive	Immune disorders	LIG4 DNA ligase 4	Reports Updated as of Jun 12, 2025	PubMed
207	Doyne honeycomb retinal dystrophy Autosomal dominant	Eye disorders	EFEMP1 EGF containing fibulin extracellular matrix protein 1	Reports Updated as of Dec 07, 2023	PubMed
208	Drash syndrome Autosomal dominant	Nephrological disorders	WT1 WT1 transcription factor	Reports Updated as of Aug 17, 2026	PubMed
209	Dubin-Johnson syndrome Autosomal recessive	Metabolic disorders	ABCC2 ATP binding cassette subfamily C member 2	Reports Updated as of Mar 30, 2026	PubMed
210	Dubowitz syndrome Autosomal recessive	Skin disorders	NSUN2 NOP2/Sun RNA methyltransferase 2	Reports Updated as of Dec 29, 2023	PubMed

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