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 |
| 381 | Mantle cell lymphoma |
Cancer disorders |
ATM ATM serine/threonine kinase |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 382 | Map-dot-fingerprint corneal dystrophy Autosomal dominant |
Eye disorders |
TGFBI transforming growth factor beta induced |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 383 | Marinesco-Sjögren syndrome Autosomal recessive |
Neurodegenerative disorders |
SIL1 SIL1 nucleotide exchange factor |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 384 | Maturity onset diabetes mellitus in young (MODY) Autosomal dominant |
Metabolic disorders |
HNF4A hepatocyte nuclear factor 4 alpha |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 385 | Maturity-onset diabetes of the young type 4 Autosomal dominant |
Metabolic disorders |
PDX1 pancreatic and duodenal homeobox 1 |
Reports Updated as of Feb 10, 2026 |
PubMed |
| 386 | Mayer Rokitansky Kuster Hauser syndrome type 1 Autosomal dominant |
Reproductive disorders |
GREB1L GREB1 like retinoic acid receptor coactivator |
Reports Updated as of Aug 17, 2026 |
PubMed |
| 387 | Mayer-Rokitansky-Küster-Hauser syndrome type 2 Autosomal dominant |
Reproductive disorders |
GREB1L GREB1 like retinoic acid receptor coactivator |
Reports Updated as of Aug 17, 2026 |
PubMed |
| 388 | Menkes disease X-linked dominant |
Metabolic disorders |
ATP7A ATPase copper transporting alpha |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 389 | Merosin deficient congenital muscular dystrophy Autosomal recessive |
Neuromuscular disorders |
LAMA2 laminin subunit alpha 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 390 | Mesoaxial synostotic syndactyly with phalangeal reduction Autosomal recessive |
Bone disorders |
BHLHA9 basic helix-loop-helix family member a9 |
Reports Updated as of Feb 01, 2024 |
PubMed |