MCID: HRS011
MIFTS: 33

Horseshoe Kidney malady

Categories: Rare diseases

Aliases & Classifications for Horseshoe Kidney

Aliases & Descriptions for Horseshoe Kidney:

Name: Horseshoe Kidney 50 29

Classifications:



Summaries for Horseshoe Kidney

MalaCards based summary : Horseshoe Kidney is related to duodenal obstruction and renal cysts and diabetes syndrome. 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, bone and colon, and related phenotypes are growth/size/body region and normal

Wikipedia : 71 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 236)
id Related Disease Score Top Affiliating Genes
1 duodenal obstruction 29.6 KRT7 NKX2-1 SYP
2 renal cysts and diabetes syndrome 11.1
3 joubert syndrome 18 10.9
4 aneurysm 10.5
5 aortic aneurysm 10.5
6 abdominal aortic aneurysm 10.5
7 renal cell carcinoma 10.3
8 peroneal nerve paralysis 10.3 CHGA SYP
9 congenital pulmonary airway malformation 10.3 HNF1B REN
10 brain stem ependymoma 10.3 CHGA SYP
11 extrahepatic biliary papillomatosis 10.3 CHGA SYP
12 epithelioid malignant peripheral nerve sheath tumor 10.3 CHGA SYP
13 infiltrating renal pelvis transitional cell carcinoma 10.3 ENO2 SYP
14 cartilage cancer 10.3 CHGA SYP
15 jejunal neuroendocrine tumor 10.3 CHGA SYP
16 renal pelvis adenocarcinoma 10.3 CHGA SYP
17 skeletal-extraskeletal angiomatosis 10.2 ENO2 SYP
18 glomus tumor 10.2 ENO2 SYP
19 pemphigus foliaceus 10.2 ENO2 SYP
20 sm-ahnmd 10.2 CHGA ENO2
21 malignant dermis tumor 10.2 ACTC1 ENO2
22 barre-lieou syndrome 10.2 CHGA SYP
23 clitoris cancer 10.2 CDX2 KRT20
24 villous adenocarcinoma 10.2 CHGA NKX2-1 SYP
25 microinvasive cervical squamous cell carcinoma 10.2 CHGA SYP
26 cavernous hemangioma of face 10.2 CHGA NKX2-1 SYP
27 bone dysplasia azouz type 10.2 ACTC1 CHGA SYP
28 autosomal recessive stickler syndrome 10.2 ENO2 SYP
29 exudative glomerulonephritis 10.2 CHGA NKX2-1 SYP
30 ampullary signet ring cell adenocarcinoma 10.2 ENO2 SYP
31 mitochondrial complex ii deficiency 10.2 CHGA NKX2-1 SYP
32 bone marrow cancer 10.2 CHGA NKX2-1 SYP
33 radiculopathy 10.2 KRT20 KRT7
34 adult myxoid chondrosarcoma 10.2 KRT20 KRT7
35 bronchus mucoepidermoid carcinoma 10.2 KRT20 KRT7
36 extramedullary plasmacytoma 10.2 CDX2 KRT20
37 urinary tract papillary transitional cell benign neoplasm 10.2 CHGA NKX2-1 SYP
38 gastric duplication cysts 10.2 CHGA SYP
39 steroid-induced glaucoma - borderline 10.2 KRT20 KRT7
40 pelvic inflammatory disease 10.2 CDX2 KRT20 SYP
41 carbon monoxide-induced parkinsonism 10.2 ACTC1 CALB2
42 congenital muscular dystrophy with hyperlaxity 10.2 ENO2 NKX2-1 SYP
43 spindle cell rhabdomyosarcoma 10.2 ACTC1 ENO2 SYP
44 diffuse cutaneous mastocytosis 10.2 CHGA SYP
45 tabes dorsalis 10.2 CDX2 KRT20 SYP
46 sebaceous adenoma 10.2 ACTC1 SYP TSC2
47 cervix endometriosis 10.2 CDX2 KRT20
48 chromophil adenoma of the kidney 10.2 ENO2 KRT20 NKX2-1
49 thymus small cell carcinoma 10.2 CHGA ENO2 SYP
50 prolactin producing pituitary tumor 10.2 CHGA ENO2 SYP

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.61 ACTC1 CDX2 CHGA ENO2 GJB2 HNF1B
2 normal MP:0002873 9.23 ACTC1 CALB2 CDX2 GJB2 NKX2-1 REN

Drugs & Therapeutics for Horseshoe Kidney

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


id 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 Immunosuppressive Agents Phase 1
4 Antimetabolites Phase 1
5 Antimetabolites, Antineoplastic Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1
2 Impact of Low Dose Fluoroscopy in Ureteroscopy Enrolling by invitation NCT02704949

Search NIH Clinical Center for Horseshoe Kidney

Genetic Tests for Horseshoe Kidney

Genetic tests related to Horseshoe Kidney:

id Genetic test Affiliating Genes
1 Horseshoe Kidney 29

Anatomical Context for Horseshoe Kidney

MalaCards organs/tissues related to Horseshoe Kidney:

39
Kidney, Bone, Colon, Pancreas, Lung, Prostate, Testis

Publications for Horseshoe Kidney

Articles related to Horseshoe Kidney:

(show top 50) (show all 584)
id Title Authors Year
1
18F-FDG PET/CT in Renal Infections: Evidence of Acute Pyelonephritis in a Horseshoe Kidney. ( 27879491 )
2017
2
Metastatic Mucinous Adenocarcinoma and Carcinoid Tumor Arising From a Mature Cystic Teratoma of a Horseshoe Kidney. ( 28083486 )
2017
3
Organ-Preserving Surgical Treatment of a Horseshoe Kidney Occupied by a Large Renal Cell Carcinoma with Extensive Venous Invasion: A Case Report. ( 26863421 )
2016
4
Aspiration Thrombectomy of Acute Atrial Fibrillation-related Renal Artery Thromboembolism in a Patient with Horseshoe Kidney. ( 27354320 )
2016
5
Gross Anatomical Dissection of a Horseshoe Kidney: The Eighth Specimen in Our Medical School. ( 26935444 )
2016
6
Renal Transplantation From a Living Donor With a Horseshoe Kidney. ( 27500246 )
2016
7
May-Thurner Syndrome and Horseshoe Kidney. ( 26916939 )
2016
8
Laparoscopic heminephrectomy for benign and malignant diseases of the horseshoe kidney. ( 28073187 )
2016
9
Left Renal Vein Compression and Horseshoe Kidney: An Extraordinary Association. ( 27304675 )
2016
10
Retroperitoneoscopy Technique-Assisted Percutaneous Nephrolithotomy for Complexity Horseshoe Kidney with Renal Stones. ( 27450075 )
2016
11
Endoscopic Management of Urolithiasis in the Horseshoe Kidney. ( 26772644 )
2016
12
Laparoscopic Pyeloplasty in children with Horseshoe Kidney. ( 27778495 )
2016
13
Horseshoe kidney with growth retardation: Don't forget Turner syndrome. ( 27976569 )
2016
14
Transmesenteric robot-assisted pyeloplasty for ureteropelvic junction obstruction in horseshoe kidney. ( 27286132 )
2016
15
Retroperitoneoscopic pyeloplasty for the management of pelvic-ureteric junction obstruction in horseshoe kidney: our initial experience. ( 27402587 )
2016
16
Retroaortic Variant of Reverse Horseshoe Kidney With Butterfly Vertebrae Presenting as Neurogenic Bladder. ( 27282812 )
2016
17
Reverse U-shaped horseshoe kidney accompanied by gibbus deformity and spina bifida. ( 27114084 )
2016
18
Comparison of shock wave lithotripsy (SWL) and retrograde intrarenal surgery (RIRS) for treatment of stone disease in horseshoe kidney patients. ( 27136473 )
2016
19
Branched Endograft Common Iliac Aneurysm Repair in a Patient with Horseshoe Kidney. ( 26922107 )
2016
20
The Robotic-Assisted Laparoscopy, Isthmusectomy, and Pyeloplasty in a Patient With Horseshoe Kidney: A Case Report. ( 26765474 )
2016
21
The horseshoe kidney: Surgical anatomy and embryology. ( 27324557 )
2016
22
Laparoscopic Pyeloplasty for Ureteropelvic Junction Obstruction in an Incompletely Duplicated Collecting System in a Patient with a Horseshoe Kidney. ( 27733990 )
2016
23
Do Outcomes of Percutaneous Nephrolithotomy in Horseshoe Kidney in Children Differ from Adults? A Single-Center Experience. ( 26791336 )
2016
24
Bladder agenesis, ectopic ureters and a multicystic dysplastic horseshoe kidney in one twin newborn with normal amniotic fluid index in utero. ( 27932430 )
2016
25
Reply to Letter to Editor Re: Endoscopic Management of Urolithiasis in the Horseshoe Kidney. ( 27237778 )
2016
26
Partial and hemi-nephrectomy for renal malignancy in patients with horseshoe kidney. ( 26892057 )
2016
27
RE: Endoscopic management of urolithiasis in the horseshoe kidney. ( 27215484 )
2016
28
Robot-assisted laparoscopic pyeloplasty in a pediatric patient with horseshoe kidney: surgical technique and review of the literature. ( 27516351 )
2016
29
Renal cell carcinoma in a horseshoe kidney: Report of a rare disease. ( 28000646 )
2016
30
Neoplasia in horseshoe kidney: A diagnostic and therapeutic dilemma. ( 26578057 )
2015
31
Primary Neuroendocrine Tumor in a Horseshoe Kidney With Positive 111In-Pentetreotide Somatostatin Receptor Scintigraphy and Negative 18F-DOPA PET/CT. ( 26204216 )
2015
32
Transperitoneal repair of a juxtarenal abdominal aortic aneurysm and co-existent horseshoe kidney with division of the renal isthmus. ( 26511935 )
2015
33
Open Surgical Repair of Abdominal Aortic Aneurysm Coexisting with Horseshoe Kidney. ( 26217645 )
2015
34
A Rare Case of a Renal Cell Carcinoma Confined to the Isthmus of a Horseshoe Kidney. ( 26185705 )
2015
35
Contrast imaging study of the horseshoe kidney for transplantation. ( 26048101 )
2015
36
Expanding the living renal donor pool by using a horseshoe kidney. ( 25838656 )
2015
37
Horseshoe kidney transplantation. ( 26120481 )
2015
38
An innovative technique of robotic-assisted/laparoscopic re-pyeloplasty in horseshoe kidney in patients with failed previous pyeloplasty for ureteropelvic junction obstruction. ( 26675936 )
2015
39
Pediatric Papillary Renal Cell Carcinoma in a Horseshoe Kidney: A Case Report with Review of the Literature. ( 26301110 )
2015
40
Isthmus undivided bilateral nephrectomy in a patient with polycystic horseshoe kidney. ( 25698207 )
2015
41
Isthmus Undivided Bilateral Nephrectomy in a Patient with Polycystic Horseshoe Kidney: Corrigendum. ( 25881613 )
2015
42
Horseshoe Kidney Incidentally Revealed on Meckel Scintigraphy. ( 25706795 )
2015
43
Incidence and Spectrum of Renal Complications and Extrarenal Diseases and Syndromes in 380 Children and Young Adults With Horseshoe Kidney. ( 26587938 )
2015
44
Surgical Treatment of a Voluminous Infrarenal Abdominal Aortic Aneurysm with Horseshoe Kidney: Tips and Tricks. ( 26730260 )
2015
45
Lumbar plexopathy as a complication of percutaneous nephrolithotomy in a horseshoe kidney. ( 25737767 )
2015
46
Our percutaneous nephrolitotomy experience in patients with horseshoe kidney. ( 26150032 )
2015
47
Tailored minimally invasive management of complex calculi in horseshoe kidney. ( 26409427 )
2015
48
En Bloc Retroperitoneoscopic Removal of Horseshoe Kidney for End-stage Renal Disease. ( 26254173 )
2015
49
Transplantation of Horseshoe Kidney from Living, Genetically Unrelated Donor. ( 26240774 )
2015
50
Colon Radiological Delineation Technique Prior to Percutaneous Nephrolithotomy in Patients With Horseshoe Kidney. ( 26210668 )
2015

Variations for Horseshoe Kidney

ClinVar genetic disease variations for Horseshoe Kidney:

6
id 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

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....