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
121	Costello syndrome Autosomal dominant	Multisystemic disorders	HRAS HRas proto-oncogene, GTPase	Reports Updated as of Feb 01, 2025	PubMed
122	Craniodiaphyseal dysplasia, autosomal dominant Autosomal dominant	Bone disorders	SOST sclerostin	Reports Updated as of Sep 15, 2022	PubMed
123	Creatine transporter deficiency X-linked recessive	Metabolic disorders	SLC6A8 solute carrier family 6 member 8	Reports Updated as of Nov 12, 2025	PubMed
124	Creutzfeldt-Jakob disease Autosomal dominant	Neurodegenerative disorders	PRNP prion protein	Reports Updated as of Mar 09, 2023	PubMed
125	Crigler-Najjar syndrome type 1 Autosomal recessive	Metabolic disorders	UGT1A1 UDP glucuronosyltransferase family 1 member A1	Reports Updated as of Sep 15, 2022	PubMed
126	Cryopyrin associated periodic syndrome Autosomal dominant	Immune disorders	NLRP3 NLR family pyrin domain containing 3	Reports Updated as of Mar 09, 2023	PubMed
127	Cushing syndrome	Endocrine disorders	ARMC5 armadillo repeat containing 5	Reports Updated as of Mar 09, 2023	PubMed
128	Cutaneous porphyria Autosomal recessive	Skin disorders	UROS uroporphyrinogen III synthase	Reports Updated as of Dec 07, 2023	PubMed
129	Cystinosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	CTNS cystinosin, lysosomal cystine transporter	Reports Updated as of Mar 09, 2023	PubMed
130	Deafness-lymphedema-leukemia syndrome Autosomal dominant	Immune disorders	GATA2 GATA binding protein 2	Reports Updated as of Feb 01, 2024	PubMed

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