MSK
MCID: MDL009
MIFTS: 41

Medullary Sponge Kidney (MSK)

Categories: Fetal diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Medullary Sponge Kidney

MalaCards integrated aliases for Medullary Sponge Kidney:

Name: Medullary Sponge Kidney 19 58 71 75 33
Cacchi-Ricci Disease 19 58 75 33
Precalicial Canalicular Ectasia 19 58
Msk 19 58
Cystic Dilatation of Renal Collecting Tubes 19
Congenital Cystic Kidney Disease 71
Precalyceal Canalicular Ectasia 19
Msk - [medullary Sponge Kidney] 33
Cacchi-Ricci Syndrome 19
Cacchi Ricci Disease 19
Sponge Kidney Nos 33
Sponge Kidney 19

Characteristics:


Inheritance:

Autosomal dominant 58

Age Of Onset:

Adult,Childhood 58

Age Of Death:

normal life expectancy 58

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 D007691
ICD10 via Orphanet 32 Q61.5
UMLS via Orphanet 72 C0022681
Orphanet 58 ORPHA1309
ICD11 33 1723148250
UMLS 71 C0022681 C0311245

Summaries for Medullary Sponge Kidney

GARD: 19 Medullary sponge kidney (MSK) is a birth defect of tiny tubes (tubules) 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. 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.

MalaCards based summary: Medullary Sponge Kidney, also known as cacchi-ricci disease, is related to nephrocalcinosis and renal tubular acidosis. An important gene associated with Medullary Sponge Kidney is HNF1B (HNF1 Homeobox B), and among its related pathways/superpathways are Signal Transduction and Signaling by Receptor Tyrosine Kinases. Affiliated tissues include kidney, liver and bone, and related phenotypes are nephrolithiasis and hematuria

Orphanet: 58 A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions.

Wikipedia: 75 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 230)
# Related Disease Score Top Affiliating Genes
1 nephrocalcinosis 31.8 ATP6V1B1 ATP6V0A4
2 renal tubular acidosis 30.9 ATP6V1B1 ATP6V0A4
3 distal renal tubular acidosis 30.7 ATP6V1B1 ATP6V0A4
4 nephrolithiasis 30.6 ATP6V1B1 ATP6V0A4
5 thyroid gland medullary carcinoma 30.4 RET GDNF
6 thyroid carcinoma, familial medullary 30.3 RET GDNF
7 multiple endocrine neoplasia 30.1 RET GDNF
8 multiple endocrine neoplasia, type iia 30.0 RET GDNF
9 metabolic acidosis 30.0 ATP6V1B1 ATP6V0A4
10 neuroma 29.8 RET GDNF
11 renal hypodysplasia/aplasia 1 29.7 RET HNF1B GDNF
12 cakut 29.7 RET HNF1B GDNF
13 sensorineural hearing loss 29.6 RET ATP6V1B1 ATP6V0A4
14 nephrolithiasis, calcium oxalate 10.9
15 urinary tract infection 10.7
16 hemihyperplasia, isolated 10.6
17 hyperparathyroidism 10.6
18 kidney disease 10.5
19 hypokalemia 10.5
20 polycystic kidney disease 10.5
21 congenital hepatic fibrosis 10.5
22 primary hyperoxaluria 10.4
23 disorder of glyoxylate metabolism 10.4
24 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
25 autosomal dominant polycystic kidney disease 10.4
26 urolithiasis 10.4
27 pyelonephritis 10.4
28 adenoma 10.4
29 primary hyperparathyroidism 10.3
30 down syndrome 10.3
31 beckwith-wiedemann syndrome 10.2
32 renal cell carcinoma, nonpapillary 10.2
33 marfan syndrome 10.2
34 tubulointerstitial kidney disease, autosomal dominant, 2 10.2
35 hydronephrosis 10.2
36 conn's syndrome 10.2
37 cystic kidney disease 10.2
38 parathyroid adenoma 10.2
39 coarctation of aorta 10.2
40 fibrosis of extraocular muscles, congenital, 1 10.2
41 thyroid carcinoma 10.2
42 optic nerve disease 10.2
43 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.2
44 bone disease 10.2
45 secondary hyperparathyroidism 10.2
46 gout 10.2
47 pyuria 10.2
48 glomerulonephritis 10.2
49 kidney papillary necrosis 10.2
50 bartter disease 10.2

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

GenomeRNAi Phenotypes related to Medullary Sponge Kidney according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.1 HNF1B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.1 LAMA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.1 LAMA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.1 LAMA2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.1 HNF1B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.1 LAMA2

MGI Mouse Phenotypes related to Medullary Sponge Kidney:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.55 ATP6V0A4 ATP6V1B1 GDNF HNF1B RET
2 muscle MP:0005369 9.26 GDNF HNF1B LAMA2 RET
3 growth/size/body region MP:0005378 9.1 ATP6V0A4 ATP6V1B1 GDNF HNF1B LAMA2 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) Terminated 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

Organs/tissues related to Medullary Sponge Kidney:

MalaCards : Kidney, Liver, Bone, Uterus

Publications for Medullary Sponge Kidney

Articles related to Medullary Sponge Kidney:

(show top 50) (show all 447)
# Title Authors PMID Year
1
Proteomics insights into medullary sponge kidney (MSK) disease: review of the recent results of an Italian research collaborative network. 62
36265463 2022
2
Hypokalemic Periodic Paralysis Secondary to Medullary Sponge Kidney Complicated With Renal Tubular Acidosis. 62
36238424 2022
3
Medullary sponge kidney: unusual finding in kidney transplant recipient. 62
36175746 2022
4
A Comprehensive Proteomics Analysis of Urinary Extracellular Vesicles Identifies a Specific Kinase Protein Profile as a Novel Hallmark of Medullary Sponge Kidney Disease. 62
35685307 2022
5
X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey. 62
35707597 2022
6
Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease. 62
35497799 2022
7
The presence of simple renal cysts is associated with an increased risk of albuminuria in young adults. 62
34865415 2022
8
Medullary Sponge Kidney-Associated Distal Renal Tubular Acidosis Diagnosed in Two Sisters with Variable Degree of Presentation. 62
35946298 2021
9
Considerations for utilizing medullary sponge kidney allografts in pediatric patients. 62
33813776 2021
10
Primary Hyperaldosteronism and Renal Medullary Nephrocalcinosis: A Controversial Association. 62
34113462 2021
11
Sphingomyelin and Medullary Sponge Kidney Disease: A Biological Link Identified by Omics Approach. 62
34124100 2021
12
Hypertension in a patient with medullary sponge kidney: A case report. 62
33546058 2021
13
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease. 62
33305128 2020
14
Ambiguous clear cell carcinoma in medullary sponge kidney: A case report. 62
32995283 2020
15
Ultrasound to address medullary sponge kidney: a retrospective study. 62
33046028 2020
16
Re: The Impact of Potassium Citrate Therapy in the Natural Course of Medullary Sponge Kidney with Associated Nephrolithiasis. 62
31532287 2019
17
[Ultrasound screening and follow-up study of congenital anomalies of the kidney and urinary tract in neonates]. 62
31848505 2019
18
Proteomic Analysis of Urinary Extracellular Vesicles Reveals a Role for the Complement System in Medullary Sponge Kidney Disease. 62
31694344 2019
19
Trends in surgical management of multicystic dysplastic kidney at USA children's hospitals. 62
31130502 2019
20
The impact of potassium citrate therapy in the natural course of Medullary Sponge Kidney with associated nephrolithiasis. 62
31266277 2019
21
Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH 62
31352694 2019
22
Proteomic Analysis of Urinary Microvesicles and Exosomes in Medullary Sponge Kidney Disease and Autosomal Dominant Polycystic Kidney Disease. 62
31018934 2019
23
Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations. 62
30852632 2019
24
Heterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney. 62
30600684 2019
25
Urinary proteome in inherited nephrolithiasis. 62
30564846 2019
26
Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms. 62
30470867 2019
27
Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report. 62
30762792 2019
28
Medullary Sponge Kidney: Current Perspectives. 62
31576161 2019
29
Medullary sponge kidney and Caroli's disease in a patient with stricture urethra: look for the hidden in presence of the apparent. 62
30567170 2018
30
Sorting the Alphabet Soup of Renal Pathology: A Review. 62
26928791 2018
31
Medullary sponge kidney. 62
30309197 2018
32
Chronic pain in medullary sponge kidney: a rare and never described clinical presentation. 62
29468561 2018
33
The "bouquet of flowers" appearance in medullary sponge kidney. 62
29198009 2018
34
Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report. 62
29983117 2018
35
Efficacy of Multi-Detector Computed Tomography for the Diagnosis of Medullary Sponge Kidney. 62
29692693 2018
36
[Effects of percutaneous nephrolithotomy in the treatment of medullary sponge kidney with calculi]. 62
29050173 2017
37
A giant septal diverticulum in a patient with medullary sponge kidney. 62
28595282 2017
38
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. 62
27573101 2017
39
Recurrent renal calculi in coexistence of horseshoe kidney and medullary sponge kidney. 62
28479783 2017
40
Proteomic-based research strategy identified laminin subunit alpha 2 as a potential urinary-specific biomarker for the medullary sponge kidney disease. 62
27914711 2017
41
Breaking the ice: urine proteomics of medullary sponge kidney disease. 62
28087010 2017
42
Characteristics of renal papillae in kidney stone formers. 62
27441596 2016
43
Outcomes of living kidney donors with medullary sponge kidney. 62
27994868 2016
44
Safety and efficacy of minimally invasive percutaneous nephrolithotomy in the treatment of patients with medullary sponge kidney. 62
26671346 2016
45
[Nephrocalcinosis in children]. 62
29710439 2015
46
Nephrocalcinosis in Calcium Stone Formers Who Do Not have Systemic Disease. 62
25988516 2015
47
The Clinical Efficacy and Safety of Ureteroscopic Laser Papillotomy to Treat Intraductal Papillary Calculi Associated With Medullary Sponge Kidney. 62
26163811 2015
48
Re: Biopsy Proven Medullary Sponge Kidney: Clinical Findings, Histopathology, and Role of Osteogenesis in Stone and Plaque Formation. 62
26195374 2015
49
Calcium phosphate stone morphology can reliably predict distal renal tubular acidosis. 62
25498572 2015
50
Biopsy proven medullary sponge kidney: clinical findings, histopathology, and role of osteogenesis in stone and plaque formation. 62
25615853 2015

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

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 8.92 ATP6V1B1 ATP6V0A4

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

# Name GO ID Score Top Affiliating Genes
1 neural crest cell migration GO:0001755 9.71 RET GDNF
2 vacuolar acidification GO:0007035 9.62 ATP6V1B1 ATP6V0A4
3 regulation of cell adhesion GO:0030155 9.61 RET LAMA2
4 regulation of pH GO:0006885 9.56 ATP6V1B1 ATP6V0A4
5 ureteric bud development GO:0001657 9.54 RET GDNF
6 enteric nervous system development GO:0048484 9.46 RET GDNF
7 synaptic vesicle lumen acidification GO:0097401 8.96 ATP6V1B1 ATP6V0A4
8 renal tubular secretion GO:0097254 8.92 ATP6V1B1 ATP6V0A4

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

# Name GO ID Score Top Affiliating Genes
1 proton-transporting ATPase activity, rotational mechanism GO:0046961 8.92 ATP6V1B1 ATP6V0A4

Sources for Medullary Sponge Kidney

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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