Congenital anomaly of kidney and urinary tract: genes and variants
Congenital anomaly of kidney and urinary tract is linked to 2 analyzed proteins (PTPN11 and ETV4). 2 DNA variants are known to cause it; 7 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 Congenital anomaly of kidney and urinary tract
PTPN11: Tyrosine-protein phosphatase non-receptor type 11
Its SHP2 phosphatase activity promotes RAS-MAPK signaling downstream of many receptor tyrosine kinases and cytokine receptors. Germline dysregulating variants cause Noonan-spectrum disorders, while somatic activating variants drive juvenile myelomonocytic leukemia and other cancers.
1 disease-causing and 0 uncertain variants in PTPN11 are linked to Congenital anomaly of kidney and urinary tract.
ETV4: ETS translocation variant 4
It activates transcriptional programs downstream of RAS-MAPK signaling that promote proliferation, invasion, and developmental patterning. Rearrangements or overexpression can drive prostate cancer and several rare sarcomas.
1 disease-causing and 0 uncertain variants in ETV4 are linked to Congenital anomaly of kidney and urinary tract.
Weakly linked (only a few uncertain records): RET, BCOR, CACNA1D, GATA5, NKX2-5 and NOTCH2.
Known disease-causing variants in Congenital anomaly of kidney and urinary tract
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PTPN11 G60C | 60 | SH2 1 | Disease-causing (★★) |
| ETV4 R415H | 415 | ETS | Disease-causing |
Same protein, different disease
- RASopathy is also caused by PTPN11 variants; they fall mostly in different places as the Congenital anomaly of kidney and urinary tract variants (51 disease-causing).
- Noonan syndrome is also caused by PTPN11 variants; they fall mostly in different places as the Congenital anomaly of kidney and urinary tract variants (44 disease-causing).
- Noonan syndrome and Noonan-related syndrome is also caused by PTPN11 variants; they fall mostly in different places as the Congenital anomaly of kidney and urinary tract variants (29 disease-causing).
- LEOPARD syndrome 1 is also caused by PTPN11 variants; they fall mostly in different places as the Congenital anomaly of kidney and urinary tract variants (16 disease-causing).
- Metachondromatosis is also caused by PTPN11 variants; they fall mostly in different places as the Congenital anomaly of kidney and urinary tract variants (11 disease-causing).
Diseases related to Congenital anomaly of kidney and urinary tract
- RASopathy, also linked to PTPN11
- Noonan syndrome, also linked to PTPN11
- Noonan syndrome and Noonan-related syndrome, also linked to PTPN11
- Acute myeloid leukemia, also linked to PTPN11
- LEOPARD syndrome 1, also linked to PTPN11
- Metachondromatosis, also linked to PTPN11
- Juvenile myelomonocytic leukemia, also linked to PTPN11
- Monogenic short statue, also linked to PTPN11
- Male infertility with azoospermia or oligozoospermia due to single gene mutation, also linked to PTPN11
- Microcephaly, also linked to PTPN11
- Noonan syndrome with multiple lentigines, also linked to PTPN11
- Non-immune hydrops fetalis, also linked to PTPN11
Frequently asked questions
Which genes are linked to Congenital anomaly of kidney and urinary tract?
In CATVariant, Congenital anomaly of kidney and urinary tract is linked to 2 analyzed proteins: PTPN11 (Tyrosine-protein phosphatase non-receptor type 11) and ETV4 (ETS translocation variant 4).
How many genetic variants are linked to Congenital anomaly of kidney and urinary tract?
9 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital anomaly of kidney and urinary tract 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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