MCID: HRS011
MIFTS: 31

Horseshoe Kidney

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Horseshoe Kidney

MalaCards integrated aliases for Horseshoe Kidney:

Name: Horseshoe Kidney 20 29 6

Classifications:



Summaries for Horseshoe Kidney

MalaCards based summary : Horseshoe Kidney is related to carcinoid syndrome and transitional cell carcinoma. An important gene associated with Horseshoe Kidney is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include kidney, colon and pancreas, and related phenotypes are growth/size/body region and cardiovascular system

Wikipedia : 74 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 592)
# Related Disease Score Top Affiliating Genes
1 carcinoid syndrome 30.6 SYP ENO2 CHGA
2 transitional cell carcinoma 30.5 KRT7 KRT20 ENO2 EGFR
3 angiomyolipoma 30.1 TSC2 KRT7 ACTC1
4 somatostatinoma 30.1 ENO2 CHGA ACTC1
5 lymphangioma 30.0 EGFR CDX2 ACTC1
6 mucinous cystadenocarcinoma 30.0 KRT7 KRT20 ACTC1
7 pseudomyxoma peritonei 29.9 KRT7 KRT20 CDX2
8 intestinal obstruction 29.9 KRT7 KRT20 CDX2
9 meckel diverticulum 29.9 SYP KRT7 CHGA CDX2
10 ureteral benign neoplasm 29.8 SYP NKX2-1 KRT7
11 oncocytoma 29.8 SYP NKX2-1 KRT7 KRT20
12 carcinosarcoma 29.8 KRT7 EGFR CALB2 ACTC1
13 neurofibroma 29.8 SYP EGFR ACTC1
14 chromophobe renal cell carcinoma 29.8 KRT7 KRT20 HNF1B CHGA
15 papillary cystadenocarcinoma 29.7 KRT7 KRT20
16 wilms tumor 1 29.7 REN NKX2-1 KRT7 ENO2 CALB2 ACTC1
17 papilloma 29.7 KRT7 KRT20 EGFR ACTC1
18 mucinous adenocarcinoma 29.7 NKX2-1 KRT7 KRT20 EGFR CDX2
19 mature teratoma 29.7 SYP KRT7 ENO2
20 intrahepatic cholangiocarcinoma 29.7 KRT7 KRT20 EGFR CDX2
21 cholangiocarcinoma 29.7 KRT7 KRT20 EGFR CDX2
22 neuroendocrine tumor 29.6 SYP NKX2-1 KRT20 ENO2 CHGA
23 cystadenoma 29.6 SYP KRT7 KRT20 CHGA CALB2
24 appendix adenocarcinoma 29.6 SYP KRT7 KRT20 CHGA CDX2
25 paraganglioma 29.6 SYP ENO2 CHGA
26 renal cell carcinoma, nonpapillary 29.6 TSC2 NKX2-1 KRT7 KRT20 HNF1B ENO2
27 carcinoid tumors, intestinal 29.4 SYP NKX2-1 ENO2 CHGA
28 autosomal dominant polycystic kidney disease 29.4 TSC2 REN HNF1B EGFR
29 tuberous sclerosis 29.3 TSC2 SYP ENO2 CHGA
30 rhabdomyosarcoma 29.2 SYP KRT7 ENO2 EGFR ACTC1
31 neuroendocrine carcinoma 29.0 SYP NKX2-1 KRT7 KRT20 ENO2 CHGA
32 polycystic liver disease 1 with or without kidney cysts 28.9 TSC2 KRT7 KRT20 HNF1B CALB2 ACTC1
33 neuroblastoma 28.9 TSC2 SYP PHF6 ENO2 EGFR CHGA
34 papillary carcinoma 28.9 SYP NKX2-1 KRT7 KRT20 CHGA CALB2
35 cystic teratoma 28.8 SYP NKX2-1 KRT7 KRT20 ENO2 CDX2
36 teratoma 28.8 SYP NKX2-1 KRT7 KRT20 ENO2 CHGA
37 large cell neuroendocrine carcinoma 28.5 SYP NKX2-1 KRT7 KRT20 ENO2 EGFR
38 hemangioma 28.2 TSC2 SYP NKX2-1 KRT7 ENO2 CHGA
39 renal cysts and diabetes syndrome 11.2
40 sacral defect with anterior meningocele 11.1
41 cleft-limb-heart malformation syndrome 11.0
42 faciocardiorenal syndrome 11.0
43 lathosterolosis 11.0
44 joubert syndrome 18 11.0
45 anophthalmos with limb anomalies 11.0
46 aortic aneurysm 10.9
47 aortic aneurysm, familial abdominal, 1 10.9
48 hydronephrosis 10.8
49 aneurysm 10.7
50 congenital anomalies of kidney and urinary tract 2 10.6

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 10.1 ACTC1 CAPN15 CDX2 CHGA EGFR ENO2
2 cardiovascular system MP:0005385 10.07 ACTC1 CDX2 CHGA EGFR GJB2 NIPBL
3 cellular MP:0005384 10.06 ACTC1 CDX2 EGFR ENO2 GJB2 HNF1B
4 mortality/aging MP:0010768 10 ACTC1 CAPN15 CDX2 CHGA EGFR GJB2
5 nervous system MP:0003631 9.77 ACTC1 CALB2 CHGA EGFR ENO2 GJB2
6 normal MP:0002873 9.32 ACTC1 CALB2 CDX2 EGFR GJB2 NIPBL

Drugs & Therapeutics for Horseshoe Kidney

Search Clinical Trials , 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:

40
Kidney, Colon, Pancreas, Lymph Node, Spleen, Thyroid, Prostate

Publications for Horseshoe Kidney

Articles related to Horseshoe Kidney:

(show top 50) (show all 1539)
# Title Authors PMID Year
1
Primary renal large cell neuroendocrine carcinoma with horseshoe kidney: A case report. 61
33568338 2021
2
Fenestrated Endovascular Aortic Aneurysm Repair for Type 2 Horseshoe Kidney Preservation. 61
33046386 2021
3
Laparoscopic abdominal perineal rectal resection for rectal cancer with a horseshoe kidney using preoperative 3D-CT angiography: a case report. 61
33407320 2021
4
Investigation of Factors Related to Percutaneous Nephrolithotomy Failure in Horseshoe Kidneys and Comparison of Three Stone Scoring Systems in Prediction of Outcomes. 61
32998151 2021
5
Fenestrated endovascular abdominal aortic aneurysm repair with concomitant horseshoe kidney. 61
33495175 2021
6
Congenital Anomalies of the Upper Urinary Tract: A Comprehensive Review. 61
33513074 2021
7
Utility of Magnetic Resonance Imaging in Diagnosis of Prenatal Non-Visualization of the Fetal Gallbladder: A Case-Series Study. 61
33397840 2021
8
Open repair of abdominal aortic aneurysms in patients with horseshoe kidney 61
33190128 2020
9
Retrospective study of the renal function using estimated glomerular filtration rate and congenital anomalies of the kidney-urinary tract in pediatric Turner syndrome. 61
32638418 2020
10
Late diagnosis of imperforate hymen with hematometrocolpos and bilateral hydronephrosis of a horseshoe kidney. 61
32963660 2020
11
[Laparoscopic management of horseshoe kidney stones.] 61
33144541 2020
12
Renal transplantation using vascular conduit reconstruction in deceased kidneys with multiple renal arteries and short renal veins. 61
32534829 2020
13
[Horseshoe Kidney Associated with Ejaculation Disorder after Laparoscopic Heminephrectomy : A Case Report]. 61
33271647 2020
14
Retroperitoneal vs transperitoneal laparoscopic lithotripsy of 20-40 mm renal stones within horseshoe kidneys. 61
33195643 2020
15
Robotic-assisted laparoscopic partial nephrectomy for renal cell carcinoma in horseshoe kidney: a hybrid technique with conventional laparoscopic surgery. 61
32904068 2020
16
Two Renal Transplants From Living Donors With Horseshoe Kidneys. 61
32717248 2020
17
Horseshoe Kidney Blunt Trauma With Double Laceration: Endovascular Management. 61
32638641 2020
18
Emphysematous Pyelonephritis in a Horseshoe kidney. 61
32721513 2020
19
Intrarenal teratoma within a horseshoe kidney-A case report. 61
32774572 2020
20
Two Applications for Laparoscopic Combined Ventral and Dorsal Side Approach in the Lateral Decubitus Position: (1) Right-Modified Retroperitoneal Lymph Node Dissection, (2) Nephrectomy for Horseshoe Kidney. 61
32505619 2020
21
[A case of cerebral infarction in young adult resulting in thrombotic occlusion of vertebral artery due to repeated contact stimulation of cervical rotation accompanied to systemic malformations such as atlantoaxial subluxation and atlas dysplasia]. 61
32779596 2020
22
Robotic-assisted Laparoscopic Simple Enucleation in a Horseshoe Kidney. A Case Report and Review of the Literature. 61
32283171 2020
23
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. 61
32633079 2020
24
Laparoscopic transmesenteric pyeloplasty and isthmusectomy for adult horseshoe kidney with recurrent symptomatic hydronephrosis. 61
32914083 2020
25
Editorial Comment to Laparoscopic transmesenteric pyeloplasty and isthmusectomy for adult horseshoe kidney with recurrent symptomatic hydronephrosis. 61
32914084 2020
26
Screening for Renal and Urinary Tract Anomalies in Asymptomatic First Degree Relatives of Children with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). 61
32198693 2020
27
Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication. 61
32506980 2020
28
[Application of preoperative three-dimensional image reconstruction in the treatment of ureteropelvic junction obstruction]. 61
32773806 2020
29
Upper Tract Urothelial Carcinoma in a Patient With Horseshoe Kidney. 61
32389816 2020
30
Renal Neuroendocrine Neoplasms: A Single-center Experience. 61
31911122 2020
31
Laparoscopy combining with ureteroscopy for horseshoe kidney accompanying with duplicate kidney and a ureteral calculus: a case report. 61
32652967 2020
32
Malrotation of the midgut associated with horseshoe kidney presenting as gastric outlet obstruction in a 15-year-old boy. 61
33342849 2020
33
CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney. 61
32509017 2020
34
Case Report of a Pelvic Crossed Fused Renal Ectopic Kidney. 61
32336732 2020
35
Aggressive angiomyxoma of renal pelvis in a horseshoe-shaped kidney: Rare tumor at an unusual site. 61
32769340 2020
36
Laparoscopic nephron-sparing surgery for a tumor near the isthmus of a horseshoe kidney with a complicated blood supply. 61
32489122 2020
37
The rupture of an abdominal aortic aneurysm at the level of horseshoe kidney: A case report. 61
32181142 2020
38
Upper Urinary Tract Adenocarcinoma Arising in Tubular Adenoma-A Rare Entity: Report of 2 Cases and Review of Literature. 61
31594436 2020
39
Outcomes of ureteroscopy for stone disease in anomalous kidneys: a systematic review. 61
31101967 2020
40
Supernumerary kidney forming isthmus of horseshoe kidney: A rare presentation. 61
32549668 2020
41
Horseshoe adrenal gland associated with spinal and vascular anomalies. 61
31686130 2020
42
Management of staghorn stones in special situations. 61
32257806 2020
43
Retrograde intrarenal surgery as a tool for lithiasis management in renal anomalies. Four cases description. 61
32240110 2020
44
Colon perforation after PCNL in reverse rotation anomalous kidney: A very rare case report and literature review. 61
31867217 2020
45
Fenestrated endovascular aneurysm repair with concomitant horseshoe kidney. 61
32025598 2020
46
Horseshoe Kidney Isthmus Infarction After Percutaneous Endovascular Aortic Aneurysm Repair. 61
32300499 2020
47
[Single-Incision Laparoscopic Colectomy for Descending Colon Cancer in a Patient with a Horseshoe Kidney]. 61
32381969 2020
48
Horseshoe Kidney Protection with Histidine-Tryptophan-Ketoglutarate Solution during Surgical Abdominal Aortic Aneurysm Repair. 61
31622767 2020
49
Laparoscopic Nephrolithotomy in a Horseshoe Kidney. 61
32190520 2020
50
Presacral Anatomy in Women With a Horseshoe Kidney. 61
31990798 2020

Variations for Horseshoe Kidney

ClinVar genetic disease variations for Horseshoe Kidney:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PACS1 NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) SNV Pathogenic 39581 rs398123009 11:65978677-65978677 11:66211206-66211206
2 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
3 CAPN15 NM_005632.2:c.2904+1_2905-45del Deletion Likely pathogenic 929503
4 NIPBL NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu) SNV Likely pathogenic 978555 5:36976061-36976061 5:36975959-36975959
5 PHF6 NM_001015877.2(PHF6):c.956G>C (p.Arg319Pro) SNV Uncertain significance 523390 rs1556019449 X:133551320-133551320 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

Sources for Horseshoe Kidney

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....