Obesity, hyperphagia, and developmental delay: genes and variants
Obesity, hyperphagia, and developmental delay is linked to 1 analyzed protein (NTRK2). 4 DNA variants are known to cause it; 21 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 Obesity, hyperphagia, and developmental delay
NTRK2: BDNF/NT-3 growth factors receptor
BDNF and neurotrophin-4 signaling through this pathway promotes neuronal survival, synaptic plasticity, and circuit maturation. Rare germline variants can cause neurodevelopmental or metabolic phenotypes, while oncogenic NTRK2 fusions can drive diverse cancers.
4 disease-causing and 21 uncertain variants in NTRK2 are linked to Obesity, hyperphagia, and developmental delay.
Known disease-causing variants in Obesity, hyperphagia, and developmental delay
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NTRK2 R535Q | 535 | Cytoplasmic | Disease-causing (★★) |
| NTRK2 G427C | 427 | Extracellular | Disease-causing (★) |
| NTRK2 T704I | 704 | Protein kinase | Disease-causing |
| NTRK2 Y706C | 706 | Protein kinase | Disease-causing |
Diseases related to Obesity, hyperphagia, and developmental delay
- Non-small cell lung carcinoma, also linked to NTRK2
- Genetic developmental and epileptic encephalopathy, also linked to NTRK2
Frequently asked questions
Which genes are linked to Obesity, hyperphagia, and developmental delay?
In CATVariant, Obesity, hyperphagia, and developmental delay is linked to 1 analyzed protein: NTRK2 (BDNF/NT-3 growth factors receptor).
How many genetic variants are linked to Obesity, hyperphagia, and developmental delay?
29 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 21 are of uncertain significance or have conflicting reports.
Which uncertain variants in Obesity, hyperphagia, and developmental delay 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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