X-linked intellectual disability-psychosis-macroorchidism syndrome: genes and variants
X-linked intellectual disability-psychosis-macroorchidism syndrome is linked to 1 analyzed protein (MECP2). 4 DNA variants are known to cause it; 8 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to X-linked intellectual disability-psychosis-macroorchidism syndrome
MECP2: Methyl-CpG-binding protein 2
It interprets DNA methylation and organizes transcriptional and chromatin states that are especially important in mature neurons. Loss-of-function variants cause Rett syndrome, whereas increased dosage causes MECP2 duplication syndrome.
4 disease-causing and 8 uncertain variants in MECP2 are linked to X-linked intellectual disability-psychosis-macroorchidism syndrome.
Known disease-causing variants in X-linked intellectual disability-psychosis-macroorchidism syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MECP2 A140V | 140 | MBD | Disease-causing (★★★★) |
| MECP2 R106Q | 106 | MBD | Disease-causing (★★) |
| MECP2 P302A | 302 | Interaction with TBL1XR1 | Disease-causing (★★) |
| MECP2 L138F | 138 | MBD | Disease-causing (★) |
Same protein, different disease
- Rett syndrome is also caused by MECP2 variants; they fall mostly in different places as the X-linked intellectual disability-psychosis-macroorchidism syndrome variants (88 disease-causing).
- Severe neonatal-onset encephalopathy with microcephaly is also caused by MECP2 variants; they fall mostly in different places as the X-linked intellectual disability-psychosis-macroorchidism syndrome variants (29 disease-causing).
Diseases related to X-linked intellectual disability-psychosis-macroorchidism syndrome
- Rett syndrome, also linked to MECP2
- Severe neonatal-onset encephalopathy with microcephaly, also linked to MECP2
- Angelman syndrome, also linked to MECP2
- Autism, also linked to MECP2
- Focal epilepsy, also linked to MECP2
- Syndromic X-linked intellectual disability Lubs type, also linked to MECP2
Frequently asked questions
Which genes are linked to X-linked intellectual disability-psychosis-macroorchidism syndrome?
In CATVariant, X-linked intellectual disability-psychosis-macroorchidism syndrome is linked to 1 analyzed protein: MECP2 (Methyl-CpG-binding protein 2).
How many genetic variants are linked to X-linked intellectual disability-psychosis-macroorchidism syndrome?
28 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 8 are of uncertain significance or have conflicting reports.
Which uncertain variants in X-linked intellectual disability-psychosis-macroorchidism syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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