ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder: genes and variants
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder is linked to 1 analyzed protein (ADNP). 4 DNA variants are known to cause it; 46 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Genes linked to ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
ADNP: Activity-dependent neuroprotector homeobox protein
It regulates chromatin, transcription, and neuronal development through interactions with multiple nuclear and cytoskeletal partners. Heterozygous loss-of-function variants cause Helsmoortel-Van der Aa syndrome, a neurodevelopmental disorder commonly involving intellectual disability, autism-related features, and characteristic facial findings.
4 disease-causing and 46 uncertain variants in ADNP are linked to ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder.
Known disease-causing variants in ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ADNP C109Y | 109 | C2H2-type 2 | Disease-causing (★) |
| ADNP C667F | 667 | C2H2-type 9 | Disease-causing (★) |
| ADNP S802F | 802 | Homeobox | Disease-causing (★) |
| ADNP L823W | 823 | Disease-causing (★) |
Frequently asked questions
Which genes are linked to ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder?
In CATVariant, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder is linked to 1 analyzed protein: ADNP (Activity-dependent neuroprotector homeobox protein).
How many genetic variants are linked to ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder?
88 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 46 are of uncertain significance or have conflicting reports.
Which uncertain variants in ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 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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