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
271 Progressive osseous heteroplasia  (Jan 04, 2024)
Autosomal dominant
Bone disorders GNAS GNAS complex locus
PubMed Reports
272 Progressive Pseudorheumatoid Dysplasia  (Sep 05, 2023)
Autosomal recessive
Bone disorders CCN6 cellular communication network factor 6
PubMed Reports
273 Prolactin-producing pituitary gland adenoma  (Jan 04, 2024)
Autosomal dominant
Endocrine disorders LRP2 LDL receptor related protein 2
PubMed Reports
274 Prolidase deficiency  (Jan 04, 2024)
Autosomal recessive
Metabolic disorders PEPD peptidase D
PubMed Reports
275 Properdin deficiency  (Jan 04, 2024)
X-linked dominant
Immune disorders CFP complement factor properdin
PubMed Reports
276 Protein-losing enteropathy  (Mar 09, 2023)
Autosomal recessive
Gastrointestinal disorders CD55 CD55 molecule (Cromer blood group)
PubMed Reports
277 Proteus syndrome  (Jan 04, 2024)
Somatic mutation
Bone disorders AKT1 AKT serine/threonine kinase 1
PubMed Reports
278 Proximal myopathy with extrapyramidal signs  (Jan 04, 2024)
Autosomal recessive
Neuromuscular disorders MICU1 mitochondrial calcium uptake 1
PubMed Reports
279 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome  (Jan 04, 2024)
Autosomal dominant
Bone disorders COMP cartilage oligomeric matrix protein
PubMed Reports
280 Pseudopseudohypoparathyroidism  (Jan 04, 2024)
Autosomal dominant
Endocrine disorders GNAS GNAS complex locus
PubMed Reports