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 |