MSK
MCID: MDL009
MIFTS: 39

Medullary Sponge Kidney (MSK)

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Medullary Sponge Kidney

MalaCards integrated aliases for Medullary Sponge Kidney:

Name: Medullary Sponge Kidney 20 58 70
Precalicial Canalicular Ectasia 20 58
Cacchi-Ricci Disease 20 58
Msk 20 58
Cystic Dilatation of Renal Collecting Tubes 20
Congenital Cystic Kidney Disease 70
Precalyceal Canalicular Ectasia 20
Medullary Sponge Kidney Disease 6
Cacchi-Ricci Syndrome 20
Cacchi Ricci Disease 20
Sponge Kidney 20

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 D007691
ICD10 via Orphanet 33 Q61.5
UMLS via Orphanet 71 C0022681
Orphanet 58 ORPHA1309
UMLS 70 C0022681 C0311245

Summaries for Medullary Sponge Kidney

GARD : 20 Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In MSK, tiny sacs called cysts form in the inner part of the kidney (the medulla), 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. Many people with MSK have no symptoms, but others may have blood in the urine, kidney stones, and urinary tract infections. Rarely, MSK leads to more serious problems, such as chronic pain and kidney failure. The cause for MSK is unknown but some cases may run in families. Treatment is aimed at preventing and removing kidney stones and treating urinary tract infections with antibiotics.

MalaCards based summary : Medullary Sponge Kidney, also known as precalicial canalicular ectasia, is related to nephrocalcinosis and renal tubular acidosis. An important gene associated with Medullary Sponge Kidney is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Ion channel transport. Affiliated tissues include kidney and uterus, and related phenotypes are nephrolithiasis and hematuria

Wikipedia : 73 Medullary sponge kidney is a congenital disorder of the kidneys characterized by cystic dilatation of... 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 166)
# Related Disease Score Top Affiliating Genes
1 nephrocalcinosis 31.7 CLCN5 ATP6V1B1 ATP6V0A4
2 renal tubular acidosis 31.1 ATP6V1B1 ATP6V0A4
3 distal renal tubular acidosis 30.9 ATP6V1B1 ATP6V0A4
4 nephrolithiasis 30.8 CLCN5 ATP6V1B1 ATP6V0A4
5 nephrolithiasis, calcium oxalate 30.3 CLCN5 ATP6V1B1
6 thyroid gland medullary carcinoma 30.1 RET GDNF
7 metabolic acidosis 30.1 ATP6V1B1 ATP6V0A4
8 thyroid carcinoma, familial medullary 30.1 RET GDNF
9 multiple endocrine neoplasia 29.8 RET GDNF
10 multiple endocrine neoplasia, type iia 29.8 RET GDNF
11 bartter disease 29.6 CLCN5 ATP6V1B1
12 cakut 29.6 RET GDNF
13 neuroma 29.6 RET GDNF
14 sensorineural hearing loss 29.4 RET ATP6V1B1 ATP6V0A4
15 hyperparathyroidism 10.6
16 hemihyperplasia, isolated 10.6
17 urinary tract infection 10.6
18 acute cystitis 10.5
19 congenital hepatic fibrosis 10.5
20 kidney disease 10.4
21 polycystic kidney disease 10.4
22 urolithiasis 10.4
23 pyelonephritis 10.4
24 primary hyperparathyroidism 10.3
25 adenoma 10.3
26 beckwith-wiedemann syndrome 10.2
27 marfan syndrome 10.2
28 hypokalemia 10.2
29 parathyroid adenoma 10.2
30 autosomal dominant polycystic kidney disease 10.2
31 antigen defined by monoclonal antibody aj9 10.2
32 thyroid carcinoma 10.2
33 renal cell carcinoma, nonpapillary 10.2
34 tubulointerstitial kidney disease, autosomal dominant, 2 10.2
35 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.2
36 proteinuria, chronic benign 10.2
37 bone disease 10.2
38 hydronephrosis 10.2
39 gout 10.2
40 pyuria 10.2
41 glomerulonephritis 10.2
42 horseshoe kidney 10.2
43 hereditary distal renal tubular acidosis 10.1 ATP6V1B1 ATP6V0A4
44 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 10.1 ATP6V1B1 ATP6V0A4
45 osteopetrosis, autosomal recessive 1 10.0 ATP6V1B1 ATP6V0A4
46 back pain 10.0
47 autosomal recessive distal renal tubular acidosis 10.0 ATP6V1B1 ATP6V0A4
48 osteopetrosis, autosomal recessive 4 10.0 ATP6V1B1 ATP6V0A4
49 osteopetrosis, autosomal recessive 7 10.0 ATP6V1B1 ATP6V0A4
50 osteopetrosis, autosomal recessive 6 10.0 ATP6V1B1 ATP6V0A4

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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000787
2 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
3 hypercalciuria 58 31 frequent (33%) Frequent (79-30%) HP:0002150
4 distal renal tubular acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0008341
5 hemihypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001528

MGI Mouse Phenotypes related to Medullary Sponge Kidney:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.43 ATP6V0A4 ATP6V1B1 CLCN5 GDNF LAMA2 RET
2 renal/urinary system MP:0005367 9.02 ATP6V0A4 ATP6V1B1 CLCN5 GDNF RET

Drugs & Therapeutics for Medullary Sponge Kidney

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter, Open-label, Extension Study to Characterize the Long-term Efficacy and Safety of Early Versus Delayed Treatment With Venglustat (GZ/SAR402671) in Patients at Risk of Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD) Recruiting NCT04705051 Phase 3 Venglustat GZ402671

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:

40
Kidney, Uterus

Publications for Medullary Sponge Kidney

Articles related to Medullary Sponge Kidney:

(show top 50) (show all 330)
# Title Authors PMID Year
1
Hypertension in a patient with medullary sponge kidney: A case report. 61
33546058 2021
2
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease. 61
33305128 2020
3
Ultrasound to address medullary sponge kidney: a retrospective study. 61
33046028 2020
4
Ambiguous clear cell carcinoma in medullary sponge kidney: A case report. 61
32995283 2020
5
Re: The Impact of Potassium Citrate Therapy in the Natural Course of Medullary Sponge Kidney with Associated Nephrolithiasis. 61
31532287 2019
6
[Ultrasound screening and follow-up study of congenital anomalies of the kidney and urinary tract in neonates]. 61
31848505 2019
7
Proteomic Analysis of Urinary Extracellular Vesicles Reveals a Role for the Complement System in Medullary Sponge Kidney Disease. 61
31694344 2019
8
Trends in surgical management of multicystic dysplastic kidney at USA children's hospitals. 61
31130502 2019
9
The impact of potassium citrate therapy in the natural course of Medullary Sponge Kidney with associated nephrolithiasis. 61
31266277 2019
10
Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH 61
31352694 2019
11
Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations. 61
30852632 2019
12
Proteomic Analysis of Urinary Microvesicles and Exosomes in Medullary Sponge Kidney Disease and Autosomal Dominant Polycystic Kidney Disease. 61
31018934 2019
13
Heterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney. 61
30600684 2019
14
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms. 61
30470867 2019
15
Urinary proteome in inherited nephrolithiasis. 61
30564846 2019
16
Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report. 61
30762792 2019
17
Medullary Sponge Kidney: Current Perspectives. 61
31576161 2019
18
Medullary sponge kidney and Caroli's disease in a patient with stricture urethra: look for the hidden in presence of the apparent. 61
30567170 2018
19
Sorting the Alphabet Soup of Renal Pathology: A Review. 61
26928791 2018
20
Medullary sponge kidney. 61
30309197 2018
21
The "bouquet of flowers" appearance in medullary sponge kidney. 61
29198009 2018
22
Chronic pain in medullary sponge kidney: a rare and never described clinical presentation. 61
29468561 2018
23
Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report. 61
29983117 2018
24
Efficacy of Multi-Detector Computed Tomography for the Diagnosis of Medullary Sponge Kidney. 61
29692693 2018
25
A giant septal diverticulum in a patient with medullary sponge kidney. 61
28595282 2017
26
[Effects of percutaneous nephrolithotomy in the treatment of medullary sponge kidney with calculi]. 61
29050173 2017
27
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. 61
27573101 2017
28
Recurrent renal calculi in coexistence of horseshoe kidney and medullary sponge kidney. 61
28479783 2017
29
Breaking the ice: urine proteomics of medullary sponge kidney disease. 61
28087010 2017
30
Proteomic-based research strategy identified laminin subunit alpha 2 as a potential urinary-specific biomarker for the medullary sponge kidney disease. 61
27914711 2017
31
Characteristics of renal papillae in kidney stone formers. 61
27441596 2016
32
Outcomes of living kidney donors with medullary sponge kidney. 61
27994868 2016
33
Safety and efficacy of minimally invasive percutaneous nephrolithotomy in the treatment of patients with medullary sponge kidney. 61
26671346 2016
34
[Nephrocalcinosis in children]. 61
29710439 2015
35
Nephrocalcinosis in Calcium Stone Formers Who Do Not have Systemic Disease. 61
25988516 2015
36
The Clinical Efficacy and Safety of Ureteroscopic Laser Papillotomy to Treat Intraductal Papillary Calculi Associated With Medullary Sponge Kidney. 61
26163811 2015
37
Re: Biopsy Proven Medullary Sponge Kidney: Clinical Findings, Histopathology, and Role of Osteogenesis in Stone and Plaque Formation. 61
26195374 2015
38
Biopsy proven medullary sponge kidney: clinical findings, histopathology, and role of osteogenesis in stone and plaque formation. 61
25615853 2015
39
Calcium phosphate stone morphology can reliably predict distal renal tubular acidosis. 61
25498572 2015
40
Spontaneous calcification process in primary renal cells from a medullary sponge kidney patient harbouring a GDNF mutation. 61
25692823 2015
41
Medullary sponge kidney diagnosed by unenhanced magnetic resonance imaging. 61
25599731 2015
42
[Imaging of medullary sponge kidney: notes for urologists]. 61
25050999 2014
43
Familial mixed nephrocalcinosis as a cause of chronic kidney failure: two case reports. 61
25346103 2014
44
Medullary sponge kidney and isolated hemihyperplasia. 61
25097338 2014
45
Medullary sponge kidney on retrograde pyelography. 61
24855603 2014
46
CT urography for the diagnosis of medullary sponge kidney. 61
24531190 2014
47
Inherited renal diseases. 61
25088262 2014
48
Medullary sponge kidney and testicular dysgenesis syndrome: a rare association. 61
24716085 2014
49
A rare case of congenital distal renal tubular acidosis combined with medullary sponge kidney. 61
23860485 2014
50
Complication and safety of ultrasound guided percutaneous nephrolithotomy in 8,025 cases in China. 61
25533819 2014

Variations for Medullary Sponge Kidney

ClinVar genetic disease variations for Medullary Sponge Kidney:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN5 NM_001127898.4(CLCN5):c.1551del (p.Gly517_Met518insTer) Deletion Likely pathogenic 523319 rs1557194090 GRCh37: X:49851521-49851521
GRCh38: X:50086864-50086864

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
12.33 LAMA2 ATP6V1B1 ATP6V0A4
2
Show member pathways
11.63 CLCN5 ATP6V1B1 ATP6V0A4
3 11.23 ATP6V1B1 ATP6V0A4
4 10.2 RET GDNF
5 9.63 RET GDNF

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 apical part of cell GO:0045177 9.16 CLCN5 ATP6V0A4
2 endosome membrane GO:0010008 9.13 RET CLCN5 ATP6V0A4
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 8.62 ATP6V1B1 ATP6V0A4

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.71 CLCN5 ATP6V1B1 ATP6V0A4
2 ion transmembrane transport GO:0034220 9.61 CLCN5 ATP6V1B1 ATP6V0A4
3 ossification GO:0001503 9.52 ATP6V1B1 ATP6V0A4
4 insulin receptor signaling pathway GO:0008286 9.51 ATP6V1B1 ATP6V0A4
5 axon guidance GO:0007411 9.5 RET LAMA2 GDNF
6 regulation of cell adhesion GO:0030155 9.49 RET LAMA2
7 neural crest cell migration GO:0001755 9.48 RET GDNF
8 ureteric bud development GO:0001657 9.46 RET GDNF
9 transferrin transport GO:0033572 9.4 ATP6V1B1 ATP6V0A4
10 phagosome acidification GO:0090383 9.37 ATP6V1B1 ATP6V0A4
11 regulation of pH GO:0006885 9.26 ATP6V1B1 ATP6V0A4
12 enteric nervous system development GO:0048484 9.16 RET GDNF
13 proton transmembrane transport GO:1902600 9.13 CLCN5 ATP6V1B1 ATP6V0A4
14 excretion GO:0007588 8.8 CLCN5 ATP6V1B1 ATP6V0A4

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 8.62 ATP6V1B1 ATP6V0A4

Sources for Medullary Sponge Kidney

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