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 |
| 411 | Morning glory disc anomaly Autosomal dominant |
Eye disorders |
PAX6 paired box 6 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 412 | Mosaic variegated aneuploidy syndrome 2 Autosomal recessive |
Multisystemic disorders |
CEP57 centrosomal protein 57 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 413 | Mucolipidosis type II Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
Reports Updated as of May 24, 2023 |
PubMed |
| 414 | Mucolipidosis type IV Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
MCOLN1 mucolipin TRP cation channel 1 |
Reports Updated as of Mar 30, 2026 |
PubMed |
| 415 | Mucopolysaccharidosis type 1 Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
IDUA alpha-L-iduronidase |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 416 | Mucopolysaccharidosis type 2 X-linked dominant |
Metabolic disorders/Lysosomal storage disorders |
IDS iduronate 2-sulfatase |
Reports Updated as of May 24, 2023 |
PubMed |
| 417 | Mucopolysaccharidosis type 7 Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
GUSB glucuronidase beta |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 418 | Mucopolysaccharidosis, MPS-I-S Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
IDUA alpha-L-iduronidase |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 419 | Mucopolysaccharidosis, MPS-IV-A Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
GALNS galactosamine (N-acetyl)-6-sulfatase |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 420 | Mucosa-associated lymphoma |
Cancer disorders |
BCL10 BCL10 immune signaling adaptor |
Reports Updated as of Feb 01, 2024 |
PubMed |