GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Monogenic disorders list    

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