MCID: HRS011
MIFTS: 34

Horseshoe Kidney

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Horseshoe Kidney

MalaCards integrated aliases for Horseshoe Kidney:

Name: Horseshoe Kidney 52 29 6

Classifications:



Summaries for Horseshoe Kidney

MalaCards based summary : Horseshoe Kidney is related to angiomyolipoma and transitional cell carcinoma. An important gene associated with Horseshoe Kidney is PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1). The drugs Fludarabine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and bone, and related phenotypes are cardiovascular system and cellular

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 615)
# Related Disease Score Top Affiliating Genes
1 angiomyolipoma 30.2 TSC2 KRT7 ACTC1
2 transitional cell carcinoma 30.2 KRT7 KRT20 ENO2 EGFR
3 hepatoid adenocarcinoma 29.9 KRT7 EGFR CDX2
4 papillary cystadenocarcinoma 29.9 KRT7 KRT20
5 pneumothorax 29.9 NKX2-1 CALB2 ACTC1
6 mucinous cystadenocarcinoma 29.9 KRT7 KRT20 ACTC1
7 cystitis 29.9 KRT7 KRT20 CDX2
8 pseudomyxoma peritonei 29.8 KRT7 KRT20 CDX2
9 ureteral benign neoplasm 29.8 SYP KRT7
10 intestinal obstruction 29.8 KRT7 KRT20 CDX2
11 adenocarcinoma 29.8 NKX2-1 KRT7 KRT20 EGFR CDX2
12 polycystic kidney disease 29.7 TSC2 REN HNF1B EGFR
13 carcinosarcoma 29.7 KRT7 EGFR CALB2 ACTC1
14 chromophobe renal cell carcinoma 29.6 KRT7 KRT20 HNF1B CHGA
15 papilloma 29.5 KRT7 KRT20 EGFR ACTC1
16 neurofibroma 29.5 SYP EGFR ACTC1
17 intrahepatic cholangiocarcinoma 29.5 KRT7 KRT20 EGFR CDX2
18 cholangiocarcinoma 29.5 KRT7 KRT20 EGFR CDX2
19 autosomal dominant polycystic kidney disease 29.4 TSC2 REN HNF1B EGFR
20 wilms tumor 1 29.4 SYP KRT7 ENO2 EGFR CALB2
21 paraganglioma 29.3 SYP ENO2 CHGA
22 mature teratoma 29.3 SYP KRT7 ENO2
23 mucinous adenocarcinoma 29.3 NKX2-1 KRT7 KRT20 EGFR CDX2
24 oncocytoma 29.2 SYP NKX2-1 KRT7 KRT20
25 rhabdomyosarcoma 29.1 SYP ENO2 EGFR ACTC1
26 tuberous sclerosis 29.1 TSC2 SYP ENO2 CHGA
27 cystadenoma 29.0 SYP KRT7 KRT20 CHGA CALB2
28 appendix adenocarcinoma 29.0 SYP KRT7 KRT20 CHGA CDX2
29 carcinoid tumors, intestinal 28.9 SYP NKX2-1 ENO2 CHGA
30 polycystic liver disease 1 with or without kidney cysts 28.8 TSC2 KRT7 KRT20 HNF1B CALB2 ACTC1
31 renal cell carcinoma, nonpapillary 28.7 TSC2 NKX2-1 KRT7 KRT20 HNF1B ENO2
32 neuroendocrine tumor 28.6 SYP NKX2-1 KRT20 ENO2 CHGA CDX2
33 adrenal cortical carcinoma 28.6 SYP REN CHGA CALB2 ACTC1
34 neuroblastoma 28.5 TSC2 SYP PHF6 ENO2 EGFR CHGA
35 endometrial cancer 28.4 NKX2-1 KRT7 KRT20 EGFR CDX2 CALB2
36 papillary carcinoma 28.0 SYP NKX2-1 KRT7 KRT20 CHGA CALB2
37 neuroendocrine carcinoma 27.9 SYP NKX2-1 KRT7 KRT20 ENO2 CHGA
38 adenoma 27.9 SYP REN KRT7 KRT20 CHGA CDX2
39 cystic teratoma 27.9 SYP NKX2-1 KRT7 KRT20 ENO2 CDX2
40 teratoma 27.7 SYP NKX2-1 KRT7 KRT20 ENO2 CHGA
41 hemangioma 27.5 TSC2 SYP NKX2-1 KRT7 ENO2 CHGA
42 sacral defect with anterior meningocele 11.6
43 renal cysts and diabetes syndrome 11.4
44 cleft-limb-heart malformation syndrome 11.2
45 ritscher-schinzel syndrome 1 11.2
46 faciocardiorenal syndrome 11.2
47 lathosterolosis 11.2
48 joubert syndrome 18 11.2
49 anophthalmos with limb anomalies 11.2
50 aortic aneurysm 10.9

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 ACTC1 CDX2 CHGA EGFR GJB2 NKX2-1
2 cellular MP:0005384 10.02 ACTC1 CDX2 EGFR ENO2 GJB2 HNF1B
3 growth/size/body region MP:0005378 10 ACTC1 CDX2 CHGA EGFR ENO2 GJB2
4 mortality/aging MP:0010768 9.93 ACTC1 CDX2 CHGA EGFR GJB2 HNF1B
5 nervous system MP:0003631 9.73 ACTC1 CALB2 CHGA EGFR ENO2 GJB2
6 normal MP:0002873 9.28 ACTC1 CALB2 CDX2 EGFR GJB2 NKX2-1

Drugs & Therapeutics for Horseshoe Kidney

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
2
alemtuzumab Approved, Investigational Phase 1 216503-57-0
3 Antineoplastic Agents, Immunological Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Study Evaluating The Use Of Rft5-Dga To Deplete Alloreactive Cells For Patients With Fanconi Anemia After Haploidentical Stem Cell Transplantation Terminated NCT00586274 Phase 1 Fludarabine
2 Impact of Low Dose Fluoroscopy in Ureteroscopy Unknown status NCT02704949

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:

40
Kidney, Colon, Bone, Lung, Pancreas, Lymph Node, Spleen

Publications for Horseshoe Kidney

Articles related to Horseshoe Kidney:

(show top 50) (show all 1498)
# Title Authors PMID Year
1
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
2
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
3
Laparoscopic nephron-sparing surgery for a tumor near the isthmus of a horseshoe kidney with a complicated blood supply. 61
32489122 2020
4
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
5
Renal transplantation using vascular conduit reconstruction in deceased kidneys with multiple renal arteries and short renal veins. 61
32534829 2020
6
Upper Urinary Tract Adenocarcinoma Arising in Tubular Adenoma-A Rare Entity: Report of 2 Cases and Review of Literature. 61
31594436 2020
7
Upper Tract Urothelial Carcinoma in a Patient With Horseshoe Kidney. 61
32389816 2020
8
The rupture of an abdominal aortic aneurysm at the level of horseshoe kidney: A case report. 61
32181142 2020
9
Outcomes of ureteroscopy for stone disease in anomalous kidneys: a systematic review. 61
31101967 2020
10
Horseshoe adrenal gland associated with spinal and vascular anomalies. 61
31686130 2020
11
Supernumerary kidney forming isthmus of horseshoe kidney: A rare presentation. 61
32549668 2020
12
Retrograde intrarenal surgery as a tool for lithiasis management in renal anomalies. Four cases description. 61
32240110 2020
13
Case Report of a Pelvic Crossed Fused Renal Ectopic Kidney. 61
32336732 2020
14
Management of staghorn stones in special situations. 61
32257806 2020
15
Robotic-assisted Laparoscopic Simple Enucleation in a Horseshoe Kidney. A Case Report and Review of the Literature. 61
32283171 2020
16
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
17
Colon perforation after PCNL in reverse rotation anomalous kidney: A very rare case report and literature review. 61
31867217 2020
18
Fenestrated endovascular aneurysm repair with concomitant horseshoe kidney. 61
32025598 2020
19
Horseshoe Kidney Isthmus Infarction After Percutaneous Endovascular Aortic Aneurysm Repair. 61
32300499 2020
20
[Single-Incision Laparoscopic Colectomy for Descending Colon Cancer in a Patient with a Horseshoe Kidney]. 61
32381969 2020
21
Horseshoe Kidney Protection with Histidine-Tryptophan-Ketoglutarate Solution during Surgical Abdominal Aortic Aneurysm Repair. 61
31622767 2020
22
Presacral Anatomy in Women With a Horseshoe Kidney. 61
31990798 2020
23
Laparoscopic Nephrolithotomy in a Horseshoe Kidney. 61
32190520 2020
24
Curious case of myxoid adipocytic tumour with ureteropelvic junction obstruction in horseshoe kidney: dilemma in management. 61
31980472 2020
25
Diagnostic Capability of Next-Generation Sequencing Fusion Analysis in Identifying a Rare CASE of TRAF1-ALK-Associated Anaplastic Large Cell Lymphoma. 61
32457846 2020
26
Laparoscopy-Assisted Transperitoneal Percutaneous Nephrolithotomy for the Treatment of Renal Stones in a Horseshoe Kidney. 61
32110553 2020
27
[Ultrasound screening and follow-up study of congenital anomalies of the kidney and urinary tract in neonates]. 61
31848505 2019
28
Retroperitoneal Aortobifemoral Bypass by a Combination of Horseshoe Kidney and Aortoiliac Occlusive Disease with Stent Thrombosis. 61
31813899 2019
29
Kidney transplantation utilizing a horseshoe kidney. 61
31759493 2019
30
Renal Neuroendocrine Neoplasms: A Single-center Experience. 61
31911122 2019
31
Robot-assisted vs laparoscopic pyeloplasty in children with uretero-pelvic junction obstruction (UPJO): technical considerations and results. 61
31734119 2019
32
Renal outcomes in adult patients with horseshoe kidney. 61
31697372 2019
33
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. 61
30445150 2019
34
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome 61
30630810 2019
35
Role of the three-dimensional printing technology incomplex laparoscopic renal surgery: a renal tumor in a horseshoe kidney. 61
31808400 2019
36
Transplantation of a horseshoe kidney from a living donor using stapler for transsection. 61
31737244 2019
37
Successful para-aortic lymph node dissection for endometrial cancer with horseshoe kidney: A case report and review of the literature. 61
31293032 2019
38
Ruptured Abdominal Aortic Aneurysm and Horseshoe Kidney: Isthmus Sectioning By Endo GIA. 61
31262229 2019
39
Robot-assisted laparoscopic pyeloplasty (RALP) in children with horseshoe kidneys: results of a multicentric study. 61
30643972 2019
40
Left lateral retroperitoneoscopic total nephrectomy of a horseshoe kidney in a 3-year-old boy. 61
31477414 2019
41
Struggle in struggle: Surgical treatment of Leriche syndrome in a horseshoe kidney patient. 61
32082932 2019
42
[3D-technologies in planning and navigation for laparoscopic interventions in patients with renal and ureteric stones]. 61
31535798 2019
43
EVAR Approach for Abdominal Aortic Aneurysm with Horseshoe Kidney: A Multicenter Experience. 61
30731220 2019
44
Renal cell carcinoma in a horseshoe kidney treated with robot-assisted partial nephrectomy. 61
31193168 2019
45
Low Dose Fluoroscopy During Ureteroscopy Does Not Compromise Surgical Outcomes. 61
30793920 2019
46
[A comparative analysis of the results of percutaneous nephrolithotomy and laparoscopic pyelolithotomy]. 61
31162897 2019
47
Endovascular stent graft repair with chimney technique of an abdominal aortic aneurysm with concomitant horseshoe kidney. 61
32551171 2019
48
A deadly trap for para-aortic lymph node dissection in patients with horseshoe kidney as a complication: a case report. 61
31109221 2019
49
[Acute urine retention due to herlyn-Werner-Wunderlinch syndrome.] 61
31223131 2019
50
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. 61
31005274 2019

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 46;XY;inv(6)(p22q13)dninversion Pathogenic 267941
3 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)SNV Conflicting interpretations of pathogenicity 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
4 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

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 NKX2-1 EGFR

Sources for Horseshoe Kidney

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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