MCID: HRS011
MIFTS: 35

Horseshoe Kidney

Categories: Rare diseases

Aliases & Classifications for Horseshoe Kidney

MalaCards integrated aliases for Horseshoe Kidney:

Name: Horseshoe Kidney 53 29 6

Classifications:



Summaries for Horseshoe Kidney

MalaCards based summary : Horseshoe Kidney is related to carcinoid syndrome and renal cell carcinoma, nonpapillary. An important gene associated with Horseshoe Kidney is GJB2 (Gap Junction Protein Beta 2). The drugs Fludarabine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and thyroid, and related phenotypes are growth/size/body region and cardiovascular system

Wikipedia : 76 Horseshoe kidney, also known as ren arcuatus (in Latin), renal fusion or super kidney, is a congenital... more...

Related Diseases for Horseshoe Kidney

Diseases related to Horseshoe Kidney via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 362)
# Related Disease Score Top Affiliating Genes
1 carcinoid syndrome 30.5 CHGA ENO2 SYP
2 renal cell carcinoma, nonpapillary 30.3 EGFR HNF1B KRT20 KRT7 NKX2-1 TSC2
3 hepatoid adenocarcinoma 30.2 CDX2 EGFR
4 transitional cell carcinoma 30.2 EGFR ENO2 KRT20 KRT7
5 cystadenoma 30.0 CHGA KRT20 KRT7 SYP
6 adrenocortical carcinoma, hereditary 29.8 CALB2 CHGA SYP
7 intrahepatic cholangiocarcinoma 29.7 CDX2 EGFR KRT20 KRT7
8 cholangiocarcinoma 29.7 CDX2 EGFR KRT20 KRT7
9 medulloblastoma 29.7 ACTC1 EGFR ENO2 SYP
10 intestinal obstruction 29.7 CDX2 KRT20 KRT7
11 teratoma 29.6 ACTC1 CDX2 ENO2 KRT7 NKX2-1 SYP
12 neuroendocrine tumor 29.5 CHGA ENO2 KRT20 KRT7 NKX2-1 SYP
13 mucinous adenocarcinoma 29.4 CDX2 EGFR KRT20 KRT7 NKX2-1
14 cystic teratoma 29.1 CDX2 ENO2 KRT20 KRT7 NKX2-1 SYP
15 renal cysts and diabetes syndrome 11.3
16 ritscher-schinzel syndrome 1 11.1
17 faciocardiorenal syndrome 11.1
18 lathosterolosis 11.1
19 joubert syndrome 18 11.1
20 anophthalmos with limb anomalies 11.1
21 verloove vanhorick brubakk syndrome 11.1
22 aortic aneurysm 10.8
23 aortic aneurysm, familial abdominal, 1 10.7
24 hydronephrosis 10.5
25 wilms tumor 6 10.4
26 congenital anomalies of kidney and urinary tract 2 10.4
27 embryoma 10.3 CDX2 HNF1B
28 pyelonephritis 10.3
29 microcystic meningioma 10.3 ENO2 GJB2
30 acute thyroiditis 10.3 CHGA ENO2
31 intracranial primitive neuroectodermal tumor 10.3 CHGA ENO2
32 lung oat cell carcinoma 10.3 CHGA ENO2
33 ossifying fibromyxoid tumor 10.3 ACTC1 ENO2
34 degos 'en cocarde' erythrokeratoderma 10.3
35 epithelioid malignant peripheral nerve sheath tumor 10.3 CHGA ENO2
36 epithelioid leiomyosarcoma 10.3 ACTC1 ENO2
37 fibroepithelial basal cell carcinoma 10.3 CHGA KRT20
38 nasal cavity cancer 10.3 CDX2 KRT7
39 duodenum adenocarcinoma 10.3 CDX2 KRT7
40 anus adenocarcinoma 10.3 CDX2 KRT7
41 anal canal adenocarcinoma 10.3 CDX2 KRT7
42 nasal cavity adenocarcinoma 10.3 CDX2 KRT7
43 epithelial predominant wilms' tumor 10.3 CDX2 KRT7
44 parachordoma 10.2 ACTC1 KRT7
45 adenocarcinoma 10.2
46 spiradenoma 10.2 ACTC1 KRT7
47 benign breast adenomyoepithelioma 10.2 EGFR KRT7
48 benign metastasizing leiomyoma 10.2 ACTC1 KRT7
49 oncocytic breast carcinoma 10.2 EGFR KRT7
50 chondroid lipoma 10.2 ENO2 KRT7

Graphical network of the top 20 diseases related to Horseshoe Kidney:



Diseases related to Horseshoe Kidney

Symptoms & Phenotypes for Horseshoe Kidney

MGI Mouse Phenotypes related to Horseshoe Kidney:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 ACTC1 CDX2 CHGA EGFR ENO2 GJB2
2 cardiovascular system MP:0005385 9.97 ACTC1 CDX2 CHGA EGFR GJB2 NKX2-1
3 homeostasis/metabolism MP:0005376 9.96 ACTC1 CDX2 CHGA EGFR GJB2 HNF1B
4 nervous system MP:0003631 9.81 CALB2 CHGA EGFR ENO2 GJB2 NKX2-1
5 normal MP:0002873 9.61 ACTC1 CALB2 CDX2 EGFR GJB2 NKX2-1
6 renal/urinary system MP:0005367 9.1 CHGA EGFR HNF1B KRT7 REN TSC2

Drugs & Therapeutics for Horseshoe Kidney

Drugs for Horseshoe Kidney (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 1 75607-67-9, 21679-14-1 30751
2
alemtuzumab Approved, Investigational Phase 1 216503-57-0
3 Immunologic Factors Phase 1
4 Antimetabolites, Antineoplastic Phase 1
5 Antimetabolites Phase 1
6 Immunosuppressive Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1 Fludarabine
2 Impact of Low Dose Fluoroscopy in Ureteroscopy Unknown status NCT02704949 Not Applicable

Search NIH Clinical Center for Horseshoe Kidney

Genetic Tests for Horseshoe Kidney

Genetic tests related to Horseshoe Kidney:

# Genetic test Affiliating Genes
1 Horseshoe Kidney 29

Anatomical Context for Horseshoe Kidney

MalaCards organs/tissues related to Horseshoe Kidney:

41
Kidney, Colon, Thyroid, Lung, Ovary, Pineal, Appendix

Publications for Horseshoe Kidney

Articles related to Horseshoe Kidney:

(show top 50) (show all 749)
# Title Authors Year
1
Horseshoe kidney with unilateral single ectopic ureter. ( 29895545 )
2018
2
Laparoscopic Heminephrectomy of Chronically Obstructed Horseshoe Kidney Moiety with Staghorn Calculus, Massive Pyonephrosis, and Xanthogranulomatous Pyelonephritis. ( 29662958 )
2018
3
Open retrieval of an inferior vena cava filter penetrating into a horseshoe kidney. ( 29914812 )
2018
4
Renal pelvic cancer with spleen invasion arising in horseshoe kidney; a case report. ( 29276682 )
2018
5
Case - Laparoscopic transperitoneal partial nephrectomy of T3a renal cell carcinoma within a horseshoe kidney. ( 29405905 )
2018
6
Horseshoe kidney in a deceased organ donor: a rare glimpse at an uncommon finding. ( 29864019 )
2018
7
Wandering spleen with horseshoe kidney a rare occurrence. ( 29602063 )
2018
8
A case of laparoscopic high anterior resection of rectosigmoid colon cancer associated with a horseshoe kidney using preoperative 3D-CT angiography. ( 29946927 )
2018
9
Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome. ( 29670795 )
2018
10
Maximizing Nephron Mass in Horseshoe Kidney Transplantation Using Inferior Epigastric Artery: Case Report. ( 29874666 )
2018
11
Renal Cell Carcinoma in a Horseshoe Kidney Treated with Laparoscopic Partial Nephrectomy. ( 29977636 )
2018
12
Open repair of ruptured abdominal aortic aneurysm with associated horseshoe kidney. ( 30256051 )
2018
13
CHARGE Syndrome with High Bifurcation of the Abdominal Aorta and a Horseshoe Kidney: A Case Report. ( 30146198 )
2018
14
Organ-Preserving Surgical Treatment of a Horseshoe Kidney Occupied by a Large Renal Cell Carcinoma with Extensive Venous Invasion: A Case Report. ( 26863421 )
2018
15
Isolated fetal horseshoe kidney does not seem to increase the risk for abnormal chromosomal microarray results. ( 29367169 )
2018
16
Incidence and characteristics of kidney stones in patients with horseshoe kidney: A systematic review and meta-analysis. ( 29416282 )
2018
17
Percutaneous cryoablation for stage T1b renal cell carcinoma in a patient with horseshoe kidney. ( 30026885 )
2018
18
The level of origin of renal arteries in horseshoe kidney vs. in separated kidneys: CT-based study. ( 30043151 )
2018
19
Percutaneous nephrolithotomy of horseshoe kidney: Our institutional experience. ( 30089983 )
2018
20
Different managements of horseshoe kidney stones, any difference in the outcome? ( 30089987 )
2018
21
Horseshoe kidney. ( 30167053 )
2018
22
The Coexistence of a Horseshoe Kidney and Meckel Diverticulum With Dramatic Mobility Revealed Through 99mTc Pertechnetate Imaging. ( 30179918 )
2018
23
Transplanting a horseshoe kidney: A case report and review of surgical strategies. ( 30294550 )
2018
24
A Case of Renal Pelvic Cancer Complicated by Horseshoe Kidney Treated with RoboSurgeon Gasless Single-Port Retroperitoneoscopic Nephroureterectomy. ( 30319831 )
2018
25
Deployment of a Resuscitative Endovascular Balloon Occlusion of the Aorta Device in a Case of Gunshot Wound Injury to a Horseshoe Kidney. ( 30533333 )
2018
26
Multimodality imaging spectrum of complications of horseshoe kidney. ( 28744072 )
2017
27
Partial nephrectomy in horseshoe kidney: Primary carcinoid tumor. ( 29473385 )
2017
28
A game of two halves: inconsistent renal allograft function in two recipients of a split horseshoe kidney. ( 29129029 )
2017
29
Challenging case of horseshoe kidney double fracture. ( 29078159 )
2017
30
Clear cell sarcoma of kidney involving a horseshoe kidney and harboring EGFR internal tandem duplication. ( 28440018 )
2017
31
Minimal change disease in horseshoe kidney. ( 28690757 )
2017
32
Recurrent renal calculi in coexistence of horseshoe kidney and medullary sponge kidney. ( 28479783 )
2017
33
Hybrid Repair of an Abdominal Aortic Aneurysm: Debranching with Endovascular Aneurysm Repair in a Patient with Horseshoe Kidney. ( 29034019 )
2017
34
Percutaneous Cryoablation of the Horseshoe Kidney: An Initial Experience. ( 28343584 )
2017
35
En bloc transplantation of horseshoe kidney in Korea. ( 28289672 )
2017
36
Renal Cell Carcinoma in a Pregnant Woman With Horseshoe Kidney. ( 28507908 )
2017
37
Retroperitoneoscopic Partial Nephrectomy for a Horseshoe Kidney Tumor. ( 28435792 )
2017
38
Horseshoe Kidney ( 28613757 )
2017
39
Horseshoe kidney and uretero-pelvic-junction obstruction in a pediatric patient. Laparoscopic vascular hitch: A valid alternative to dismembered pyeloplasty? ( 29502388 )
2017
40
Scrotal extraperitoneal ureteroinguinal hernia with a horseshoe kidney. ( 28480543 )
2017
41
Massive Renal Replacement Lipomatosis With Foci of Xanthogranulomatous Pyelonephritis in a Horseshoe Kidney. ( 28443241 )
2017
42
The rarest phenomenon of flexible ureterolithotripsy: Kidney stone in supernumerary type combination with a horseshoe kidney. ( 29118544 )
2017
43
Evaluation of the accuracy of renal depth estimation formulas in horseshoe kidney. ( 29245358 )
2017
44
Metastatic Mucinous Adenocarcinoma and Carcinoid Tumor Arising From a Mature Cystic Teratoma of a Horseshoe Kidney. ( 28083486 )
2017
45
Robotic-Assisted Laparoscopic Partial Nephrectomy in a Horseshoe Kidney. a Case Report and Review of the Literature. ( 29288785 )
2017
46
18F-FDG PET/CT in Renal Infections: Evidence of Acute Pyelonephritis in a Horseshoe Kidney. ( 27879491 )
2017
47
Reverse U-shaped horseshoe kidney accompanied by gibbus deformity and spina bifida. ( 27114084 )
2016
48
Retroperitoneoscopy Technique-Assisted Percutaneous Nephrolithotomy for Complexity Horseshoe Kidney with Renal Stones. ( 27450075 )
2016
49
Reply to Letter to Editor Re: Endoscopic Management of Urolithiasis in the Horseshoe Kidney. ( 27237778 )
2016
50
RE: Endoscopic management of urolithiasis in the horseshoe kidney. ( 27215484 )
2016

Variations for Horseshoe Kidney

ClinVar genetic disease variations for Horseshoe Kidney:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
2 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
3 PHF6 NM_001015877.1(PHF6): c.956G> C (p.Arg319Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 133551320: 133551320
4 PHF6 NM_001015877.1(PHF6): c.956G> C (p.Arg319Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 134417290: 134417290

Expression for Horseshoe Kidney

Search GEO for disease gene expression data for Horseshoe Kidney.

Pathways for Horseshoe Kidney

GO Terms for Horseshoe Kidney

Biological processes related to Horseshoe Kidney according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cerebral cortex cell migration GO:0021795 8.62 EGFR NKX2-1

Sources for Horseshoe Kidney

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....