Table 4.
Thirty six genes that cause monogenic-CAKUT if mutated
| Gene | Protein | Reference |
|---|---|---|
| Autosomal dominant | ||
| BMP4 | Bone Morphogenetic Protein 4 | 102 |
| CHD1L | Chromodomain Helicase DNA Binding Protein 1-Like | 103 |
| DSTYK | Dual Serine/Threonine And Tyrosine Protein Kinase | 41 |
| EYA1 | EYA Transcriptional Coactivator And Phosphatase 1 | 104 |
| GATA3 | GATA Binding Protein 3 | 105,106 |
| HNF1B | HNF1 Homeobox B | 107 |
| MUC1 | Mucin 1, Cell Surface Associated | 108 |
| PAX2 | Paired Box 2 | 109 |
| RET | Ret Proto-Oncogene | 110 |
| ROBO2 | Roundabout, Axon Guidance Receptor, Homolog 2 (Drosophila) | 111 |
| SALL1 | Spalt-Like Transcription Factor 1 | 112 |
| SIX1 | SIX Homeobox 1 | 113 |
| SIX2 | SIX Homeobox 2 | 102 |
| SIX5 | SIX Homeobox 5 | 114 |
| SOX17 | SRY (Sex Determining Region Y)-Box 17 | 115 |
| SRGAP1 | SLIT-ROBO Rho GTPase Activating Protein 1 | 116 |
| TBX18 | T-Box 18 | 19 |
| TNXB | Tenascin XB | 117 |
| UMOD | Uromodulin | 118 |
| UPK3A | Uroplakin 3A | 119 |
| WNT4 | Wingless-Type MMTV Integration Site Family, Member 4 | 120,121,122 |
| Autosomal recessive | ||
| ACE | Angiotensin I Converting Enzyme | 123 |
| AGT | Angiotensinogen (Serpin Peptidase Inhibitor, Clade A, Member 8) | 123 |
| AGTR1 | Angiotensin II Receptor, Type 1 | 123 |
| CHRM3 | Cholinergic Receptor, Muscarinic 3 | 124 |
| FGF20 | Fibroblast Growth Factor 20 | 125 |
| FRAS1 | Fraser Extracellular Matrix Complex Subunit 1 | 40,126 |
| FREM2 | FRAS1 Related Extracellular Matrix Protein 2 | 40 |
| FREM1 | FRAS1 Related Extracellular Matrix 1 | 40 |
| GRIP1 | Glutamate Receptor Interacting Protein 1 | 40 |
| HPSE2 | Heparanase 2 (Inactive) | 127 |
| ITGA8 | Integrin, Alpha 8 | 40,128 |
| LRIG2 | Leucine-Rich Repeats And Immunoglobulin-Like Domains 2 | 129 |
| REN | Renin | 123 |
| TRAP1 | TNF Receptor-Associated Protein 1 | 7 |
| X-Linked | ||
| KAL1 | Anosmin 1 | 130 |