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
Modes of inheritance
Category Gene symbol Indian
context
 Links
331 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 
Autosomal dominant
Bone disorders COMP cartilage oligomeric matrix protein
Reports
Updated as of Jan 04, 2024
PubMed
332 Pseudopseudohypoparathyroidism 
Autosomal dominant
Endocrine disorders GNAS GNAS complex locus
Reports
Updated as of Jan 04, 2024
PubMed
333 Pseudoxanthoma elasticum 
Autosomal recessive
Skin disorders ABCC6 ATP binding cassette subfamily C member 6
Reports
Updated as of Jan 04, 2024
PubMed
334 Pulmonary alveolar microlithiasis 
Autosomal recessive
Respiratory disorders SLC34A2 solute carrier family 34 member 2
Reports
Updated as of Jan 04, 2024
PubMed
335 Purine-nucleoside phosphorylase deficiency 
Autosomal recessive
Metabolic disorders PNP purine nucleoside phosphorylase
Reports
Updated as of Jan 04, 2024
PubMed
336 Pyknodysostosis 
Autosomal recessive
Bone disorders CTSK cathepsin K
Reports
Updated as of Jan 04, 2024
PubMed
337 Pyle metaphyseal dysplasia 
Autosomal recessive
Bone disorders SFRP4 secreted frizzled related protein 4
Reports
Updated as of Jan 04, 2024
PubMed
338 Pyridoxal phosphate-responsive seizures 
Autosomal recessive
Metabolic disorders PNPO pyridoxamine 5'-phosphate oxidase
Reports
Updated as of Jan 04, 2024
PubMed
339 Pyridoxine-dependent epilepsy 
Autosomal recessive
Metabolic disorders ALDH7A1 aldehyde dehydrogenase 7 family member A1
Reports
Updated as of Jan 04, 2024
PubMed
340 Pyruvate carboxylase deficiency 
Autosomal recessive
Metabolic disorders PC pyruvate carboxylase
Reports
Updated as of Feb 20, 2024
PubMed