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
171	Cushing syndrome	Endocrine disorders	ARMC5 armadillo repeat containing 5	Reports Updated as of Mar 09, 2023	PubMed
172	Cutaneous porphyria Autosomal recessive	Skin disorders	UROS uroporphyrinogen III synthase	Reports Updated as of Dec 07, 2023	PubMed
173	Cystinosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	CTNS cystinosin, lysosomal cystine transporter	Reports Updated as of Mar 09, 2023	PubMed
174	DE SANCTIS-CACCHIONE SYNDROME Autosomal recessive	Multisystemic disorders	ERCC6 ERCC excision repair 6, chromatin remodeling factor	Reports Updated as of Aug 17, 2026	PubMed
175	Deafness-lymphedema-leukemia syndrome Autosomal dominant	Immune disorders	GATA2 GATA binding protein 2	Reports Updated as of Feb 01, 2024	PubMed
176	Deficiency of acetyl-CoA acetyltransferase Autosomal recessive	Metabolic disorders	ACAT1 acetyl-CoA acetyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
177	Deficiency of alpha-mannosidase Autosomal recessive	Metabolic disorders	MAN2B1 mannosidase alpha class 2B member 1	Reports Updated as of Sep 08, 2025	PubMed
178	Deficiency of aromatic-L-amino-acid decarboxylase Autosomal recessive	Metabolic disorders	DDC dopa decarboxylase	Reports Updated as of Feb 01, 2025	PubMed
179	Deficiency of butyrylcholinesterase Autosomal recessive	Metabolic disorders	BCHE butyrylcholinesterase	Reports Updated as of Feb 20, 2024	PubMed
180	Deficiency of cytochrome-b5 reductase Autosomal recessive	Blood disorders	CYB5R3 cytochrome b5 reductase 3	Reports Updated as of Jan 05, 2026	PubMed

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