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
81	Coxopodopatellar syndrome (Sep 05, 2023) Autosomal dominant	Bone disorders	TBX4 T-box transcription factor 4	PubMed	Reports
82	Craniodiaphyseal dysplasia, autosomal dominant (Sep 15, 2022) Autosomal dominant	Bone disorders	SOST sclerostin	PubMed	Reports
83	Creutzfeldt-Jakob disease (Mar 09, 2023) Autosomal dominant	Neurodegenerative disorders	PRNP prion protein	PubMed	Reports
84	Crigler-Najjar syndrome type 1 (Sep 15, 2022) Autosomal recessive	Metabolic disorders	UGT1A1 UDP glucuronosyltransferase family 1 member A1	PubMed	Reports
85	Cryopyrin associated periodic syndrome (Mar 09, 2023) Autosomal dominant	Immune disorders	NLRP3 NLR family pyrin domain containing 3	PubMed	Reports
86	Cushing syndrome (Mar 09, 2023)	Endocrine disorders	ARMC5 armadillo repeat containing 5	PubMed	Reports
87	Cutaneous porphyria (Dec 07, 2023) Autosomal recessive	Skin disorders	UROS uroporphyrinogen III synthase	PubMed	Reports
88	Cutis laxa, X-linked (Sep 05, 2023) X-linked dominant	Skin disorders	ATP7A ATPase copper transporting alpha	PubMed	Reports
89	Cystinosis (Mar 09, 2023) Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	CTNS cystinosin, lysosomal cystine transporter	PubMed	Reports
90	Deafness-lymphedema-leukemia syndrome (Feb 01, 2024) Autosomal dominant	Immune disorders	GATA2 GATA binding protein 2	PubMed	Reports

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