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 hepatoid adenocarcinoma. An important gene associated with Horseshoe Kidney is GJB2 (Gap Junction Protein Beta 2). The drugs alemtuzumab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and bone, 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 340)
# Related Disease Score Top Affiliating Genes
1 carcinoid syndrome 29.9 CHGA ENO2 SYP
2 hepatoid adenocarcinoma 29.8 CDX2 EGFR
3 transitional cell carcinoma 29.8 EGFR ENO2 KRT20 KRT7
4 intrahepatic cholangiocarcinoma 29.6 CDX2 EGFR KRT7
5 cystadenoma 29.1 CHGA KRT20 KRT7 SYP
6 renal cell carcinoma, nonpapillary 28.9 EGFR HNF1B KRT20 KRT7 NKX2-1 TSC2
7 adrenocortical carcinoma, hereditary 28.9 CALB2 CHGA SYP
8 cholangiocarcinoma 28.9 CDX2 EGFR KRT20 KRT7
9 teratoma 28.6 ACTC1 CDX2 ENO2 KRT7 NKX2-1 SYP
10 mucinous adenocarcinoma 28.4 CDX2 EGFR KRT20 KRT7 NKX2-1
11 cystic teratoma 28.2 CDX2 ENO2 KRT20 KRT7 NKX2-1 SYP
12 neuroendocrine tumor 27.8 CHGA ENO2 KRT20 KRT7 NKX2-1 SYP
13 renal cysts and diabetes syndrome 11.1
14 ritscher-schinzel syndrome 1 11.0
15 faciocardiorenal syndrome 11.0
16 lathosterolosis 11.0
17 joubert syndrome 18 11.0
18 anophthalmos with limb anomalies 11.0
19 cystic basal cell carcinoma 10.8 KRT20 KRT7
20 seminal vesicle adenocarcinoma 10.8 KRT20 KRT7
21 transverse colon cancer 10.8 KRT20 KRT7
22 solid adenocarcinoma with mucin production 10.7 KRT7 NKX2-1
23 eyelid neoplasm 10.7 KRT20 KRT7
24 parachordoma 10.7 ACTC1 KRT7
25 malignant syringoma 10.7 KRT20 KRT7
26 large intestine adenocarcinoma 10.7 KRT20 KRT7
27 malignant sertoli cell tumor 10.7 ENO2 SYP
28 linitis plastica 10.7 KRT20 KRT7
29 ovarian germ cell teratoma 10.7 KRT7 NKX2-1
30 adenoid squamous cell carcinoma 10.7 KRT20 KRT7
31 sinonasal undifferentiated carcinoma 10.7 ENO2 SYP
32 eccrine sweat gland neoplasm 10.7 KRT20 KRT7
33 embryoma 10.7 NKX2-1 SYP
34 benign metastasizing leiomyoma 10.7 ACTC1 KRT7
35 ovarian germ cell cancer 10.7 KRT7 NKX2-1
36 pancreatic somatostatinoma 10.7 ENO2 SYP
37 extrahepatic bile duct adenocarcinoma 10.7 ENO2 SYP
38 papillary tumor of the pineal region 10.7 ENO2 SYP
39 vulval paget's disease 10.7 KRT20 KRT7
40 orbital cancer 10.6 ENO2 SYP
41 intratubular embryonal carcinoma 10.6 KRT20 KRT7
42 ovarian carcinosarcoma 10.6 ENO2 SYP
43 papillary adenoma 10.6 KRT7 NKX2-1
44 benign breast adenomyoepithelioma 10.6 EGFR KRT7
45 aneurysm 10.6
46 central nervous system primitive neuroectodermal neoplasm 10.6 ENO2 SYP
47 meibomian cyst 10.6 KRT20 KRT7
48 cerebellum cancer 10.6 ENO2 SYP
49 aortic aneurysm 10.6
50 mature teratoma of the ovary 10.6 ENO2 KRT20

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 9.96 HNF1B NKX2-1 ACTC1 REN CDX2 CHGA
2 cardiovascular system MP:0005385 9.92 NKX2-1 ACTC1 REN CDX2 CHGA TSC2
3 homeostasis/metabolism MP:0005376 9.85 HNF1B KRT7 NKX2-1 ACTC1 REN CDX2
4 normal MP:0002873 9.61 NKX2-1 ACTC1 REN CALB2 CDX2 SYP
5 renal/urinary system MP:0005367 9.1 HNF1B KRT7 REN CHGA TSC2 EGFR

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
alemtuzumab Approved, Investigational Phase 1 216503-57-0
2
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
3 Immunosuppressive Agents Phase 1
4 Antimetabolites Phase 1
5 Antimetabolites, Antineoplastic 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 Enrolling by invitation 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, Bone, Pancreas, Spleen, Testis, Prostate

Publications for Horseshoe Kidney

Articles related to Horseshoe Kidney:

(show top 50) (show all 623)
# 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
Nephrolithiasis in a 17 Year Old Male with Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature. ( 29894776 )
2018
12
Renal Cell Carcinoma in a Horseshoe Kidney Treated with Laparoscopic Partial Nephrectomy. ( 29977636 )
2018
13
Incidence and characteristics of kidney stones in patients with horseshoe kidney: A systematic review and meta-analysis. ( 29416282 )
2018
14
Isolated fetal horseshoe kidney does not seem to increase the risk for abnormal chromosomal microarray results. ( 29367169 )
2018
15
Multimodality imaging spectrum of complications of horseshoe kidney. ( 28744072 )
2017
16
Partial nephrectomy in horseshoe kidney: Primary carcinoid tumor. ( 29473385 )
2017
17
A game of two halves: inconsistent renal allograft function in two recipients of a split horseshoe kidney. ( 29129029 )
2017
18
Challenging case of horseshoe kidney double fracture. ( 29078159 )
2017
19
Clear cell sarcoma of kidney involving a horseshoe kidney and harboring EGFR internal tandem duplication. ( 28440018 )
2017
20
Minimal change disease in horseshoe kidney. ( 28690757 )
2017
21
Recurrent renal calculi in coexistence of horseshoe kidney and medullary sponge kidney. ( 28479783 )
2017
22
Hybrid Repair of an Abdominal Aortic Aneurysm: Debranching with Endovascular Aneurysm Repair in a Patient with Horseshoe Kidney. ( 29034019 )
2017
23
Percutaneous Cryoablation of the Horseshoe Kidney: An Initial Experience. ( 28343584 )
2017
24
En bloc transplantation of horseshoe kidney in Korea. ( 28289672 )
2017
25
Renal Cell Carcinoma in a Pregnant Woman With Horseshoe Kidney. ( 28507908 )
2017
26
Retroperitoneoscopic Partial Nephrectomy for a Horseshoe Kidney Tumor. ( 28435792 )
2017
27
Horseshoe Kidney ( 28613757 )
2017
28
Horseshoe kidney and uretero-pelvic-junction obstruction in a pediatric patient. Laparoscopic vascular hitch: A valid alternative to dismembered pyeloplasty? ( 29502388 )
2017
29
Scrotal extraperitoneal ureteroinguinal hernia with a horseshoe kidney. ( 28480543 )
2017
30
Massive Renal Replacement Lipomatosis With Foci of Xanthogranulomatous Pyelonephritis in a Horseshoe Kidney. ( 28443241 )
2017
31
The rarest phenomenon of flexible ureterolithotripsy: Kidney stone in supernumerary type combination with a horseshoe kidney. ( 29118544 )
2017
32
Evaluation of the accuracy of renal depth estimation formulas in horseshoe kidney. ( 29245358 )
2017
33
Metastatic Mucinous Adenocarcinoma and Carcinoid Tumor Arising From a Mature Cystic Teratoma of a Horseshoe Kidney. ( 28083486 )
2017
34
Robotic-Assisted Laparoscopic Partial Nephrectomy in a Horseshoe Kidney. a Case Report and Review of the Literature. ( 29288785 )
2017
35
18F-FDG PET/CT in Renal Infections: Evidence of Acute Pyelonephritis in a Horseshoe Kidney. ( 27879491 )
2017
36
Reverse U-shaped horseshoe kidney accompanied by gibbus deformity and spina bifida. ( 27114084 )
2016
37
Retroperitoneoscopy Technique-Assisted Percutaneous Nephrolithotomy for Complexity Horseshoe Kidney with Renal Stones. ( 27450075 )
2016
38
Reply to Letter to Editor Re: Endoscopic Management of Urolithiasis in the Horseshoe Kidney. ( 27237778 )
2016
39
RE: Endoscopic management of urolithiasis in the horseshoe kidney. ( 27215484 )
2016
40
Retroperitoneoscopic pyeloplasty for the management of pelvic-ureteric junction obstruction in horseshoe kidney: our initial experience. ( 27402587 )
2016
41
Renal cell carcinoma in a horseshoe kidney: Report of a rare disease. ( 28000646 )
2016
42
Bladder agenesis, ectopic ureters and a multicystic dysplastic horseshoe kidney in one twin newborn with normal amniotic fluid index in utero. ( 27932430 )
2016
43
Retroaortic Variant of Reverse Horseshoe Kidney With Butterfly Vertebrae Presenting as Neurogenic Bladder. ( 27282812 )
2016
44
Laparoscopic Pyeloplasty in children with Horseshoe Kidney. ( 27778495 )
2016
45
Gross Anatomical Dissection of a Horseshoe Kidney: The Eighth Specimen in Our Medical School. ( 26935444 )
2016
46
A Novel Chimney Approach for Management of Horseshoe Kidney During EVAR. ( 28856318 )
2016
47
Transmesenteric robot-assisted pyeloplasty for ureteropelvic junction obstruction in horseshoe kidney. ( 27286132 )
2016
48
The horseshoe kidney: Surgical anatomy and embryology. ( 27324557 )
2016
49
Do Outcomes of Percutaneous Nephrolithotomy in Horseshoe Kidney in Children Differ from Adults? A Single-Center Experience. ( 26791336 )
2016
50
Renal Transplantation From a Living Donor With a Horseshoe Kidney. ( 27500246 )
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 46;XY;inv(6)(p22q13)dn inversion Pathogenic
4 PHF6 NM_001015877.1(PHF6): c.956G> C (p.Arg319Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 133551320: 133551320
5 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....