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 Modes of inheritance |
Category | Gene symbol | Indian context |
Links |
| 471 | Winchester syndrome Autosomal recessive |
Bone disorders |
MMP14 matrix metallopeptidase 14 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 472 | Wolcott-Rallison dysplasia Autosomal recessive |
Multisystemic disorders |
EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 473 | Wolman disease Autosomal recessive |
Metabolic disorders |
LIPA lipase A, lysosomal acid type |
Reports Updated as of Nov 02, 2023 |
PubMed |
| 474 | X-linked agammaglobulinemia X-linked dominant |
Immune disorders |
BTK Bruton tyrosine kinase |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 475 | X-linked agammaglobulinemia with growth hormone deficiency X-linked recessive |
Endocrine disorders |
BTK Bruton tyrosine kinase |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 476 | X-linked intellectual disability, van Esch type X-linked recessive |
Multisystemic disorders |
POLA1 DNA polymerase alpha 1, catalytic subunit |
Reports Updated as of Nov 12, 2025 |
PubMed |
| 477 | X-linked lissencephaly with abnormal genitalia X-linked recessive |
Multisystemic disorders |
ARX aristaless related homeobox |
Reports Updated as of Nov 12, 2025 |
PubMed |
| 478 | X-linked myopathy with excessive autophagy X-linked recessive |
Neuromuscular disorders |
VMA21 vacuolar ATPase assembly factor VMA21 |
Reports Updated as of Feb 01, 2025 |
PubMed |