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 |
| 421 | Muenke syndrome Autosomal dominant |
Bone disorders |
FGFR3 fibroblast growth factor receptor 3 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 422 | Mulibrey nanism syndrome Autosomal recessive |
Bone disorders |
TRIM37 tripartite motif containing 37 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 423 | Multicentric carpo-tarsal osteolysis with or without nephropathy Autosomal dominant |
Bone disorders |
MAFB MAF bZIP transcription factor B |
Reports Updated as of Mar 30, 2026 |
PubMed |
| 424 | Multicentric osteolysis, nodulosis, and arthropathy Autosomal recessive |
Bone disorders |
MMP2 matrix metallopeptidase 2 |
Reports Updated as of Aug 17, 2026 |
PubMed |
| 425 | Multiple congenital exostosis Autosomal dominant |
Bone disorders |
EXT1 exostosin glycosyltransferase 1 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 426 | Multiple fibrofolliculomas Autosomal dominant |
Skin disorders |
FLCN folliculin |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 427 | Multiple gastrointestinal atresias Autosomal recessive |
Gastrointestinal disorders |
TTC7A tetratricopeptide repeat domain 7A |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 428 | Multiple mitochondrial dysfunctions syndrome 5 Autosomal recessive |
Metabolic disorders |
ISCA1 iron-sulfur cluster assembly 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 429 | Multiple sclerosis |
Neurodegenerative disorders |
NR1H3 nuclear receptor subfamily 1 group H member 3 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 430 | Muscle eye brain disease Autosomal recessive |
Neuromuscular disorders |
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Reports Updated as of Feb 01, 2024 |
PubMed |