Lethal congenital contracture syndrome 2: genes and variants
Lethal congenital contracture syndrome 2 is linked to 1 analyzed protein (ERBB3). 1 DNA variants are known to cause it; 5 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: Lethal congenital contracture syndrome type 2
Genes linked to Lethal congenital contracture syndrome 2
ERBB3: Receptor tyrosine-protein kinase erbB-3
It amplifies neuregulin and ERBB-family signaling primarily by heterodimerizing with catalytically active partners such as HER2 and strongly recruiting PI3K. Persistent signaling can promote tumor growth and resistance to targeted therapy.
1 disease-causing and 5 uncertain variants in ERBB3 are linked to Lethal congenital contracture syndrome 2.
Known disease-causing variants in Lethal congenital contracture syndrome 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ERBB3 I418T | 418 | Extracellular | Disease-causing (★) |
Same protein, different disease
- Malignant tumor of urinary bladder is also caused by ERBB3 variants; they fall mostly in different places as the Lethal congenital contracture syndrome 2 variants (4 disease-causing).
Diseases related to Lethal congenital contracture syndrome 2
- Malignant tumor of urinary bladder, also linked to ERBB3
- Non-small cell lung carcinoma, also linked to ERBB3
- Visceral neuropathy, familial, 2, autosomal recessive, also linked to ERBB3
Frequently asked questions
Which genes are linked to Lethal congenital contracture syndrome 2?
In CATVariant, Lethal congenital contracture syndrome 2 is linked to 1 analyzed protein: ERBB3 (Receptor tyrosine-protein kinase erbB-3).
How many genetic variants are linked to Lethal congenital contracture syndrome 2?
8 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Lethal congenital contracture syndrome 2 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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