Visceral neuropathy, familial, 2, autosomal recessive: genes and variants

Genes linked to Visceral neuropathy, familial, 2, autosomal recessive

• 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.

  2 disease-causing and 4 uncertain variants in ERBB3 are linked to Visceral neuropathy, familial, 2, autosomal recessive.

• ERBB2: Receptor tyrosine-protein kinase erbB-2

  ERBB2, also called HER2, is a cell-surface receptor tyrosine kinase that works with other ERBB receptors to transmit growth signals. It helps organize signaling and cytoskeletal responses, and abnormal ERBB2 activity is a major feature of several cancers.

  1 disease-causing and 21 uncertain variants in ERBB2 are linked to Visceral neuropathy, familial, 2, autosomal recessive.

Known disease-causing variants in Visceral neuropathy, familial, 2, autosomal recessive

Same protein, different disease

• Malignant tumor of urinary bladder is also caused by ERBB3 variants; they fall mostly in different places as the Visceral neuropathy, familial, 2, autosomal recessive variants (4 disease-causing).
• Malignant tumor of urinary bladder is also caused by ERBB2 variants; they fall mostly in different places as the Visceral neuropathy, familial, 2, autosomal recessive variants (6 disease-causing).
• Lung adenocarcinoma is also caused by ERBB2 variants; they fall mostly in different places as the Visceral neuropathy, familial, 2, autosomal recessive variants (3 disease-causing).

Diseases related to Visceral neuropathy, familial, 2, autosomal recessive

• Malignant tumor of urinary bladder, also linked to ERBB2 and ERBB3
• Non-small cell lung carcinoma, also linked to ERBB2 and ERBB3
• Ovarian cancer, also linked to ERBB2
• Colorectal cancer, also linked to ERBB2
• Gastric cancer, also linked to ERBB2
• Glioma susceptibility 1, also linked to ERBB2
• Ovarian neoplasm, also linked to ERBB2
• Lung adenocarcinoma, also linked to ERBB2
• Lung cancer, also linked to ERBB2
• Lethal congenital contracture syndrome 2, also linked to ERBB3

Frequently asked questions

Which genes are linked to Visceral neuropathy, familial, 2, autosomal recessive?

In CATVariant, Visceral neuropathy, familial, 2, autosomal recessive is linked to 2 analyzed proteins: ERBB3 (Receptor tyrosine-protein kinase erbB-3) and ERBB2 (Receptor tyrosine-protein kinase erbB-2).

How many genetic variants are linked to Visceral neuropathy, familial, 2, autosomal recessive?

30 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 25 are of uncertain significance or have conflicting reports.

Which uncertain variants in Visceral neuropathy, familial, 2, autosomal recessive 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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