MCID: MDL009
MIFTS: 45

Medullary Sponge Kidney

Categories: Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Medullary Sponge Kidney

MalaCards integrated aliases for Medullary Sponge Kidney:

Name: Medullary Sponge Kidney 53 59 73
Cystic Dilatation of Renal Collecting Tubes 53
Congenital Cystic Kidney Disease 73
Precalyceal Canalicular Ectasia 53
Precalicial Canalicular Ectasia 59
Cacchi-Ricci Syndrome 53
Cacchi Ricci Disease 53
Cacchi-Ricci Disease 59
Sponge Kidney 53
Msk 59

Classifications:



External Ids:

Orphanet 59 ORPHA1309
MESH via Orphanet 45 D007691
ICD10 via Orphanet 34 Q61.5
UMLS via Orphanet 74 C0022681
UMLS 73 C0022681

Summaries for Medullary Sponge Kidney

NIH Rare Diseases : 53 Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.

MalaCards based summary : Medullary Sponge Kidney, also known as cystic dilatation of renal collecting tubes, is related to renal tubular acidosis and renal tubular acidosis, distal. An important gene associated with Medullary Sponge Kidney is GDNF (Glial Cell Derived Neurotrophic Factor), and among its related pathways/superpathways are Signaling by GPCR and Phagosome. The drugs Bone Density Conservation Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone, and related phenotypes are nephrolithiasis and hematuria

Wikipedia : 76 Medullary sponge kidney (also known as Cacchi–Ricci disease) is a congenital disorder of the kidneys... more...

Related Diseases for Medullary Sponge Kidney

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis 30.3 ATP6V0A4 ATP6V1B1
2 renal tubular acidosis, distal 30.2 ATP6V0A4 ATP6V1B1
3 multiple endocrine neoplasia, type iia 30.0 GDNF RET
4 multiple endocrine neoplasia 29.9 GDNF RET
5 metabolic acidosis 29.5 ATP6V0A4 ATP6V1B1
6 nephrocalcinosis 11.5
7 hyperparathyroidism 10.3
8 nephrolithiasis 10.3
9 kidney disease 10.3
10 hypoganglionosis 10.2 GDNF RET
11 multiple endocrine neoplasia, type iib 10.2 GDNF RET
12 goldberg-shprintzen syndrome 10.2 GDNF RET
13 beckwith-wiedemann syndrome 10.2
14 hepatitis 10.2
15 colonic disease 10.2 GDNF RET
16 pyloric stenosis 10.1 GDNF RET
17 megacolon 10.1 GDNF RET
18 intestinal obstruction 10.1 GDNF RET
19 adenoma 10.1
20 congenital hepatic fibrosis 10.1
21 neuroma 10.1 GDNF RET
22 renal hypodysplasia/aplasia 1 10.0 GDNF RET
23 parathyroid adenoma 10.0
24 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.0
25 central hypoventilation syndrome, congenital 10.0 GDNF RET
26 renal tubular acidosis, distal, autosomal recessive 10.0 ATP6V0A4 ATP6V1B1
27 constipation 10.0 GDNF RET
28 inner ear disease 9.9 ATP6V0A4 ATP6V1B1
29 ovarian clear cell carcinoma 9.9
30 neuronitis 9.9
31 thyroid carcinoma, familial medullary 9.9 GDNF RET
32 purpura 9.9
33 chronic pain 9.9
34 ulcerative colitis 9.9
35 adrenal carcinoma 9.9
36 adrenal adenoma 9.9
37 colitis 9.9
38 bone disease 9.9
39 cystitis cystica 9.9
40 primary hyperparathyroidism 9.9
41 nephronophthisis 9.9
42 amyloidosis 9.9
43 fibromuscular dysplasia 9.9
44 hypopituitarism 9.9
45 marfan syndrome 9.9
46 anodontia 9.9
47 polycystic kidney disease 9.9
48 bacteriuria 9.9
49 hemihyperplasia, isolated 9.9
50 renovascular hypertension 9.9

Graphical network of the top 20 diseases related to Medullary Sponge Kidney:



Diseases related to Medullary Sponge Kidney

Symptoms & Phenotypes for Medullary Sponge Kidney

Human phenotypes related to Medullary Sponge Kidney:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000787
2 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
3 hemihypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001528
4 hypercalciuria 59 32 frequent (33%) Frequent (79-30%) HP:0002150
5 distal renal tubular acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0008341

MGI Mouse Phenotypes related to Medullary Sponge Kidney:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 RET ATP6V0A4 ATP6V1B1 GDNF LAMA2
2 hearing/vestibular/ear MP:0005377 9.13 ATP6V0A4 ATP6V1B1 LAMA2
3 renal/urinary system MP:0005367 8.92 RET ATP6V0A4 ATP6V1B1 GDNF

Drugs & Therapeutics for Medullary Sponge Kidney

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bone Density Conservation Agents Phase 2, Phase 3
2 Calcium, Dietary Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3

Search NIH Clinical Center for Medullary Sponge Kidney

Genetic Tests for Medullary Sponge Kidney

Anatomical Context for Medullary Sponge Kidney

MalaCards organs/tissues related to Medullary Sponge Kidney:

41
Kidney, Bone

Publications for Medullary Sponge Kidney

Articles related to Medullary Sponge Kidney:

(show top 50) (show all 181)
# Title Authors Year
1
Chronic pain in medullary sponge kidney: a rare and never described clinical presentation. ( 29468561 )
2018
2
Efficacy of Multi-Detector Computed Tomography for the Diagnosis of Medullary Sponge Kidney. ( 29692693 )
2018
3
The "bouquet of flowers" appearance in medullary sponge kidney. ( 29198009 )
2017
4
Recurrent renal calculi in coexistence of horseshoe kidney and medullary sponge kidney. ( 28479783 )
2017
5
Breaking the ice: urine proteomics of medullary sponge kidney disease. ( 28087010 )
2017
6
Medullary Sponge Kidney ( 29262095 )
2017
7
A giant septal diverticulum in a patient with medullary sponge kidney. ( 28595282 )
2017
8
Proteomic-based research strategy identified laminin subunit alpha 2 as a potential urinary-specific biomarker for the medullary sponge kidney disease. ( 27914711 )
2017
9
New non-renal congenital disorders associated with medullary sponge kidney (MSK) support the pathogenic role of GDNF and point to the diagnosis of MSK in recurrent stone formers. ( 27573101 )
2016
10
Outcomes of living kidney donors with medullary sponge kidney. ( 27994868 )
2016
11
Medullary sponge kidney diagnosed by unenhanced magnetic resonance imaging. ( 25599731 )
2015
12
The Clinical Efficacy and Safety of Ureteroscopic Laser Papillotomy to Treat Intraductal Papillary Calculi Associated With Medullary Sponge Kidney. ( 26163811 )
2015
13
Spontaneous calcification process in primary renal cells from a medullary sponge kidney patient harbouring a GDNF mutation. ( 25692823 )
2015
14
Safety and efficacy of minimally invasive percutaneous nephrolithotomy in the treatment of patients with medullary sponge kidney. ( 26671346 )
2015
15
Biopsy proven medullary sponge kidney: clinical findings, histopathology, and role of osteogenesis in stone and plaque formation. ( 25615853 )
2015
16
Re: Biopsy Proven Medullary Sponge Kidney: Clinical Findings, Histopathology, and Role of Osteogenesis in Stone and Plaque Formation. ( 26195374 )
2015
17
Image diagnosis: Medullary sponge kidney. ( 24867557 )
2014
18
CT urography for the diagnosis of medullary sponge kidney. ( 24531190 )
2014
19
Medullary sponge kidney on retrograde pyelography. ( 24855603 )
2014
20
Medullary sponge kidney and testicular dysgenesis syndrome: a rare association. ( 24716085 )
2014
21
Medullary sponge kidney and isolated hemihyperplasia. ( 25097338 )
2014
22
Medullary sponge kidney: state of the art. ( 23229933 )
2013
23
Medullary sponge kidney and von Meyenburg complex. ( 23627202 )
2013
24
Medullary sponge kidney. ( 23680648 )
2013
25
The impact of modern endourological techniques in the treatment of a century old disease--medullary sponge kidney with associated nephrolithiasis. ( 24868267 )
2013
26
Re: medullary sponge kidney: state of the art. ( 23594644 )
2013
27
A Rare Case of Congenital Distal Renal Tubular Acidosis Combined with Medullary Sponge Kidney. ( 23860485 )
2013
28
Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity. ( 23223172 )
2013
29
Evidence for inheritance of medullary sponge kidney. ( 23364586 )
2013
30
MR imaging of focal medullary sponge kidney: case report. ( 22450389 )
2012
31
A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney. ( 22876563 )
2012
32
Re: McPhail et al.: Nephrolithiasis in medullary sponge kidney: evaluation of clinical and metabolic features. (Urology 2012;79:277-281). ( 23206796 )
2012
33
Nephrolithiasis in medullary sponge kidney: evaluation of clinical and metabolic features. ( 22014971 )
2012
34
Nephrolithiasis in medullary sponge kidney. ( 21585169 )
2011
35
Coexistence of medullary sponge kidney and renal AA amyloidosis in a patient with nephrotic range proteinuria. ( 20355355 )
2010
36
Long-term treatment with potassium citrate and renal stones in medullary sponge kidney. ( 20576821 )
2010
37
Medullary sponge kidney: causes and treatments. ( 20966864 )
2010
38
Identification of GDNF gene sequence variations in patients with medullary sponge kidney disease. ( 20448065 )
2010
39
Coexistence of medullary sponge kidney and ulcerative colitis in the same patient: long-term follow-up. ( 21491822 )
2009
40
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. ( 19364879 )
2009
41
Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report. ( 19830120 )
2009
42
The missing medullary sponge kidney. ( 19644481 )
2009
43
Bone disease in medullary sponge kidney and effect of potassium citrate treatment. ( 19808216 )
2009
44
Medullary sponge kidney and urinary calculi: aeromedical concerns. ( 18619133 )
2008
45
Medullary sponge kidney associated with multivessel fibromuscular dysplasia: report of a case with renovascular hypertension. ( 18203794 )
2008
46
A review of the natural progression of medullary sponge kidney and a novel grading system based on intravenous urography findings. ( 17406139 )
2007
47
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. ( 17849153 )
2007
48
Diagnosis of medullary sponge kidney by computed tomographic urography. ( 17591535 )
2007
49
Medullary sponge kidney in a 10-year-old Shih Tzu dog. ( 17099162 )
2006
50
Medullary sponge kidney. ( 17165213 )
2006

Variations for Medullary Sponge Kidney

Expression for Medullary Sponge Kidney

Search GEO for disease gene expression data for Medullary Sponge Kidney.

Pathways for Medullary Sponge Kidney

Pathways related to Medullary Sponge Kidney according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.46 ATP6V0A4 ATP6V1B1 GDNF LAMA2 RET
2 11.59 ATP6V0A4 ATP6V1B1
3
Show member pathways
11.4 GDNF RET
4
Show member pathways
11.32 ATP6V0A4 ATP6V1B1
5 11.11 ATP6V0A4 ATP6V1B1
6 10.52 GDNF RET
7 10.2 GDNF RET

GO Terms for Medullary Sponge Kidney

Cellular components related to Medullary Sponge Kidney according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vacuolar proton-transporting V-type ATPase complex GO:0016471 8.62 ATP6V0A4 ATP6V1B1

Biological processes related to Medullary Sponge Kidney according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.54 ATP6V0A4 ATP6V1B1
2 proton transmembrane transport GO:1902600 9.52 ATP6V0A4 ATP6V1B1
3 ossification GO:0001503 9.51 ATP6V0A4 ATP6V1B1
4 insulin receptor signaling pathway GO:0008286 9.49 ATP6V0A4 ATP6V1B1
5 regulation of cell adhesion GO:0030155 9.48 LAMA2 RET
6 ureteric bud development GO:0001657 9.46 GDNF RET
7 neural crest cell migration GO:0001755 9.43 GDNF RET
8 excretion GO:0007588 9.4 ATP6V0A4 ATP6V1B1
9 transferrin transport GO:0033572 9.37 ATP6V0A4 ATP6V1B1
10 ATP hydrolysis coupled proton transport GO:0015991 9.32 ATP6V0A4 ATP6V1B1
11 phagosome acidification GO:0090383 9.26 ATP6V0A4 ATP6V1B1
12 regulation of pH GO:0006885 9.16 ATP6V0A4 ATP6V1B1
13 axon guidance GO:0007411 9.13 GDNF LAMA2 RET
14 enteric nervous system development GO:0048484 8.62 GDNF RET

Molecular functions related to Medullary Sponge Kidney according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.96 GDNF RET
2 proton transmembrane transporter activity GO:0015078 8.62 ATP6V0A4 ATP6V1B1

Sources for Medullary Sponge 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
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