List of monogenic disorders and their associated genes(Heterogeneity and
Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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 |
| 511 | Progressive familial intrahepatic cholestasis type 2 Autosomal recessive |
Liver disorders |
ABCB11 ATP binding cassette subfamily B member 11 |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 512 | Progressive myositis ossificans Autosomal dominant |
Neuromuscular disorders |
ACVR1 activin A receptor type 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 513 | Progressive osseous heteroplasia Autosomal dominant |
Bone disorders |
GNAS GNAS complex locus |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 514 | Progressive Pseudorheumatoid Dysplasia Autosomal recessive |
Bone disorders |
CCN6 cellular communication network factor 6 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 515 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Autosomal recessive |
Bone disorders |
RSPRY1 ring finger and SPRY domain containing 1 |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 516 | Prolactin-producing pituitary gland adenoma Autosomal dominant |
Endocrine disorders |
LRP2 LDL receptor related protein 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 517 | Prolidase deficiency Autosomal recessive |
Metabolic disorders |
PEPD peptidase D |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 518 | Protein-losing enteropathy Autosomal recessive |
Gastrointestinal disorders |
CD55 CD55 molecule (Cromer blood group) |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 519 | Proteus syndrome Somatic mutation |
Bone disorders |
AKT1 AKT serine/threonine kinase 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 520 | Proximal myopathy with extrapyramidal signs Autosomal recessive |
Neuromuscular disorders |
MICU1 mitochondrial calcium uptake 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |