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
141	Dentinogenesis imperfecta type 2 Autosomal dominant	Oral disorders	DSPP dentin sialophosphoprotein	Reports Updated as of Sep 15, 2022	PubMed
142	Desmoid disease	Cancer disorders	APC APC regulator of WNT signaling pathway	Reports Updated as of Dec 29, 2023	PubMed
143	Diastrophic dysplasia Autosomal recessive	Bone disorders	SLC26A2 solute carrier family 26 member 2	Reports Updated as of Sep 15, 2022	PubMed
144	Dicarboxylic aminoaciduria Autosomal recessive	Metabolic disorders	SLC1A1 solute carrier family 1 member 1	Reports Updated as of Dec 29, 2023	PubMed
145	Distal arthrogryposis type 5D Autosomal recessive	Neuromuscular disorders	ECEL1 endothelin converting enzyme like 1	Reports Updated as of Feb 01, 2025	PubMed
146	DNA ligase IV deficiency Autosomal recessive	Immune disorders	LIG4 DNA ligase 4	Reports Updated as of Jun 12, 2025	PubMed
147	Doyne honeycomb retinal dystrophy Autosomal dominant	Eye disorders	EFEMP1 EGF containing fibulin extracellular matrix protein 1	Reports Updated as of Dec 07, 2023	PubMed
148	Dubowitz syndrome Autosomal recessive	Skin disorders	NSUN2 NOP2/Sun RNA methyltransferase 2	Reports Updated as of Dec 29, 2023	PubMed
149	Duchenne muscular dystrophy X-linked dominant	Neuromuscular disorders	DMD dystrophin	Reports Updated as of Sep 15, 2022	PubMed
150	Dyggve-Melchior-Clausen syndrome Autosomal recessive	Multisystemic disorders	DYM dymeclin	Reports Updated as of Nov 12, 2025	PubMed

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