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 (Gentigs update) Modes of inheritance |
Category | Gene symbol | Links | Indian context |
| 301 | Sea-blue histiocyte syndrome (Jan 04, 2024) Autosomal dominant |
Metabolic disorders/Lysosomal storage disorders |
APOE apolipoprotein E |
PubMed | Reports |
| 302 | Severe congenital nemaline myopathy (Dec 29, 2023) Autosomal recessive |
Neuromuscular disorders |
KLHL40 kelch like family member 40 |
PubMed | Reports |
| 303 | Sezary syndrome (Dec 29, 2023) |
Cancer disorders |
BCL10 BCL10 immune signaling adaptor |
PubMed | Reports |
| 304 | SHORT syndrome (Dec 29, 2023) Autosomal dominant |
Endocrine disorders |
PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 |
PubMed | Reports |
| 305 | Shprintzen-Goldberg syndrome (Sep 05, 2023) Autosomal dominant |
Bone disorders |
SKI SKI proto-oncogene |
PubMed | Reports |
| 306 | Sialidosis type 2 (Sep 05, 2023) Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
NEU1 neuraminidase 1 |
PubMed | Reports |
| 307 | Sjogren Syndrome (Mar 09, 2023) Autosomal recessive |
Immune disorders |
IRF5 interferon regulatory factor 5 |
PubMed | Reports |
| 308 | Smith-Lemli-Opitz syndrome (Dec 29, 2023) Autosomal recessive |
Metabolic disorders |
DHCR7 7-dehydrocholesterol reductase |
PubMed | Reports |
| 309 | Sneddon syndrome (Dec 29, 2023) Autosomal recessive |
Skin disorders |
ADA2 adenosine deaminase 2 |
PubMed | Reports |
| 310 | Solitary median maxillary central incisor (Dec 29, 2023) Autosomal dominant |
Oral disorders |
SHH sonic hedgehog signaling molecule |
PubMed | Reports |