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.
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.
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=8) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Rett syndrome (XLR) |
•Autism, dementia, ataxia, and loss of purposeful hand use •Classic Rett syndrome •Rett's disorder |
Neurodevelopmental disorders |
MECP2 methyl-CpG binding protein 2 FOXG1 forkhead box G1 CDKL5 cyclin dependent kinase like 5 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 RHOBTB2 Rho related BTB domain containing 2 |
Reports | PubMed |
| Oto-Palato-Digital syndrome (XLR) |
•Otopalatodigital syndrome type 1 •OPD syndrome 1 |
Bone disorders |
FLNA filamin A |
Reports | PubMed |
| Fragile X syndrome (XLR) |
Neurodevelopmental disorders |
FMR1 fragile X messenger ribonucleoprotein 1 |
Reports | PubMed | |
| Child syndrome (XLR) |
•Congenital hemidysplasia with ichthyosiform nevus and limbs defects •CHILD nevus |
Skin disorders |
NSDHL NAD(P) dependent steroid dehydrogenase-like |
Reports | PubMed |
| Focal dermal hypoplasia (XLR) |
•Goltz syndrome •Goltz Gorlin syndrome |
Skin disorders |
PORCN porcupine O-acyltransferase |
Reports | PubMed |
| Pyruvate dehydrogenase E1-alpha deficiency (XLR) |
•Pyruvate decarboxylase deficiency •PDHAD •Ataxia with lactic acidosis I •PDHAD |
Metabolic disorders |
PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 PDHX pyruvate dehydrogenase complex component X |
Reports | PubMed |
| Nance-Horan syndrome (XLR) |
•Cataract dental syndrome •Mesiodens cataract syndrome •Cataract X-linked with Hutchinsonian teeth |
Eye disorders |
NHS NHS actin remodeling regulator |
Reports | PubMed |
| Orofaciodigital syndrome I (XLR) |
•OFD syndrome 1 •Oral-facial-digital syndrome type 1 •Orofaciodigital syndrome 1 •Papillon-Léage-Psaume syndrome •OFDS 1 |
Neurodevelopmental disorders |
OFD1 OFD1 centriole and centriolar satellite protein |
Reports | PubMed |