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 |
231 | Neutral lipid storage myopathy (Jan 04, 2024) Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
PNPLA2 patatin like phospholipase domain containing 2 |
PubMed | Reports |
232 | Niemann-Pick disease, type B (Sep 15, 2022) Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
SMPD1 sphingomyelin phosphodiesterase 1 |
PubMed | Reports |
233 | Obesity due to congenital leptin deficiency (Jan 04, 2024) Autosomal recessive |
Endocrine disorders |
LEP leptin |
PubMed | Reports |
234 | Ocular cystinosis (Jul 20, 2024) Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
CTNS cystinosin, lysosomal cystine transporter |
PubMed | Reports |
235 | Oculodentodigital dysplasia (Sep 05, 2023) Autosomal dominant |
Bone disorders |
GJA1 gap junction protein alpha 1 |
PubMed | Reports |
236 | Oligodendroglioma (Jan 04, 2024) |
Cancer disorders |
CIC capicua transcriptional repressor |
PubMed | Reports |
237 | Opsismodysplasia (Jan 04, 2024) Autosomal recessive |
Bone disorders |
INPPL1 inositol polyphosphate phosphatase like 1 |
PubMed | Reports |
238 | Ornithine aminotransferase deficiency (Dec 07, 2023) Autosomal recessive |
Metabolic disorders |
OAT ornithine aminotransferase |
PubMed | Reports |
239 | Ornithine carbamoyltransferase deficiency (Dec 29, 2023) X-linked dominant |
Metabolic disorders |
OTC ornithine transcarbamylase |
PubMed | Reports |
240 | Orofaciodigital syndrome I (Feb 01, 2024) X-linked recessive |
Neurodevelopmental disorders |
OFD1 OFD1 centriole and centriolar satellite protein |
PubMed | Reports |