MCID: HRS011
MIFTS: 33

Horseshoe Kidney malady

Category: Rare diseases

Aliases & Classifications for Horseshoe Kidney

About this section

Aliases & Descriptions for Horseshoe Kidney:

Name: Horseshoe Kidney 48 27

Classifications:



Summaries for Horseshoe Kidney

About this section
Wikipedia:71 Horseshoe kidney, also known as ren arcuatus (in Latin), renal fusion or super kidney, is a congenital... more...

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). Affiliated tissues include kidney, bone and colon, and related mouse phenotypes are growth/size/body region and normal.

Related Diseases for Horseshoe Kidney

About this section

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

(show top 50)    (show all 236)
idRelated DiseaseScoreTop Affiliating Genes
1duodenal obstruction29.6KRT7, NKX2-1, SYP
2renal cysts and diabetes syndrome11.1
3joubert syndrome 1810.9
4aneurysm10.5
5aortic aneurysm10.5
6abdominal aortic aneurysm10.5
7renal cell carcinoma10.3
8peroneal nerve paralysis10.3CHGA, SYP
9congenital pulmonary airway malformation10.3HNF1B, REN
10brain stem ependymoma10.3CHGA, SYP
11extrahepatic biliary papillomatosis10.3CHGA, SYP
12epithelioid malignant peripheral nerve sheath tumor10.3CHGA, SYP
13infiltrating renal pelvis transitional cell carcinoma10.3ENO2, SYP
14cartilage cancer10.3CHGA, SYP
15jejunal neuroendocrine tumor10.3CHGA, SYP
16renal pelvis adenocarcinoma10.3CHGA, SYP
17skeletal-extraskeletal angiomatosis10.2ENO2, SYP
18glomus tumor10.2ENO2, SYP
19pemphigus foliaceus10.2ENO2, SYP
20sm-ahnmd10.2CHGA, ENO2
21malignant dermis tumor10.2ACTC1, ENO2
22barre-lieou syndrome10.2CHGA, SYP
23clitoris cancer10.2CDX2, KRT20
24villous adenocarcinoma10.2CHGA, NKX2-1, SYP
25microinvasive cervical squamous cell carcinoma10.2CHGA, SYP
26cavernous hemangioma of face10.2CHGA, NKX2-1, SYP
27bone dysplasia azouz type10.2ACTC1, CHGA, SYP
28autosomal recessive stickler syndrome10.2ENO2, SYP
29exudative glomerulonephritis10.2CHGA, NKX2-1, SYP
30ampullary signet ring cell adenocarcinoma10.2ENO2, SYP
31mitochondrial complex ii deficiency10.2CHGA, NKX2-1, SYP
32bone marrow cancer10.2CHGA, NKX2-1, SYP
33radiculopathy10.2KRT20, KRT7
34adult myxoid chondrosarcoma10.2KRT20, KRT7
35bronchus mucoepidermoid carcinoma10.2KRT20, KRT7
36extramedullary plasmacytoma10.2CDX2, KRT20
37urinary tract papillary transitional cell benign neoplasm10.2CHGA, NKX2-1, SYP
38gastric duplication cysts10.2CHGA, SYP
39steroid-induced glaucoma - borderline10.2KRT20, KRT7
40pelvic inflammatory disease10.2CDX2, KRT20, SYP
41carbon monoxide-induced parkinsonism10.2ACTC1, CALB2
42congenital muscular dystrophy with hyperlaxity10.2ENO2, NKX2-1, SYP
43spindle cell rhabdomyosarcoma10.2ACTC1, ENO2, SYP
44diffuse cutaneous mastocytosis10.2CHGA, SYP
45tabes dorsalis10.2CDX2, KRT20, SYP
46sebaceous adenoma10.2ACTC1, SYP, TSC2
47cervix endometriosis10.2CDX2, KRT20
48chromophil adenoma of the kidney10.2ENO2, KRT20, NKX2-1
49thymus small cell carcinoma10.2CHGA, ENO2, SYP
50prolactin producing pituitary tumor10.2CHGA, ENO2, SYP

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



Diseases related to horseshoe kidney

Symptoms & Phenotypes for Horseshoe Kidney

About this section

MGI Mouse Phenotypes related to Horseshoe Kidney according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1ACTC1, CDX2, CHGA, ENO2, GJB2, HNF1B
2MP:00028737.6ACTC1, CALB2, CDX2, GJB2, NKX2-1, REN

Drugs & Therapeutics for Horseshoe Kidney

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
FludarabineapprovedPhase 1115421679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
2
alemtuzumabapproved, investigationalPhase 1310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
3Immunosuppressive AgentsPhase 113086
4Antimetabolites, AntineoplasticPhase 17361
5AntimetabolitesPhase 112054

Interventional clinical trials:

idNameStatusNCT IDPhase
1Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCTTerminatedNCT00586274Phase 1
2Impact of Low Dose Fluoroscopy in UreteroscopyEnrolling by invitationNCT02704949

Search NIH Clinical Center for Horseshoe Kidney

Genetic Tests for Horseshoe Kidney

About this section

Genetic tests related to Horseshoe Kidney:

id Genetic test Affiliating Genes
1 Horseshoe Kidney27

Anatomical Context for Horseshoe Kidney

About this section

MalaCards organs/tissues related to Horseshoe Kidney:

36
Kidney, Bone, Colon, Pancreas, Testis, Prostate, Lung

Publications for Horseshoe Kidney

About this section

Articles related to Horseshoe Kidney:

(show top 50)    (show all 584)
idTitleAuthorsYear
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

About this section

Clinvar genetic disease variations for Horseshoe Kidney:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GJB2NM_ 004004.5(GJB2): c.269T> C (p.Leu90Pro)SNVPathogenicrs80338945GRCh37Chr 13, 20763452: 20763452
246;XY;inv(6)(p22q13)dnTranslocationPathogenic

Expression for genes affiliated with Horseshoe Kidney

About this section
Search GEO for disease gene expression data for Horseshoe Kidney.

Pathways for genes affiliated with Horseshoe Kidney

About this section

GO Terms for genes affiliated with Horseshoe Kidney

About this section

Sources for Horseshoe Kidney

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet