MCID: CNG330
MIFTS: 16

Congenital Megacalycosis

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Congenital Megacalycosis

MalaCards integrated aliases for Congenital Megacalycosis:

Name: Congenital Megacalycosis 58

Characteristics:

Orphanet epidemiological data:

58
congenital megacalycosis
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q63.8
Orphanet 58 ORPHA93109

Summaries for Congenital Megacalycosis

MalaCards based summary : Congenital Megacalycosis is related to unilateral congenital megacalycosis and acute cystitis. Affiliated tissues include kidney, and related phenotypes are dilatation of renal calices and recurrent urinary tract infections

Related Diseases for Congenital Megacalycosis

Diseases related to Congenital Megacalycosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 unilateral congenital megacalycosis 12.3
2 acute cystitis 10.3
3 vesicoureteral reflux 1 10.2
4 renal hypodysplasia/aplasia 1 10.1
5 schinzel-giedion midface retraction syndrome 10.1
6 cakut 10.1
7 hydronephrosis 10.1
8 iga glomerulonephritis 10.1
9 ureteral obstruction 10.1
10 nephrolithiasis 10.1
11 renal dysplasia 10.1

Graphical network of the top 20 diseases related to Congenital Megacalycosis:



Diseases related to Congenital Megacalycosis

Symptoms & Phenotypes for Congenital Megacalycosis

Human phenotypes related to Congenital Megacalycosis:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilatation of renal calices 58 31 obligate (100%) Obligate (100%) HP:0100581
2 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
3 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
4 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
5 enlarged kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000105
6 renal cyst 58 31 frequent (33%) Frequent (79-30%) HP:0000107
7 tubulointerstitial nephritis 58 31 frequent (33%) Frequent (79-30%) HP:0001970
8 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
9 ureteral obstruction 58 Excluded (0%)
10 abnormal renal physiology 58 Frequent (79-30%)

Drugs & Therapeutics for Congenital Megacalycosis

Search Clinical Trials , NIH Clinical Center for Congenital Megacalycosis

Genetic Tests for Congenital Megacalycosis

Anatomical Context for Congenital Megacalycosis

MalaCards organs/tissues related to Congenital Megacalycosis:

40
Kidney

Publications for Congenital Megacalycosis

Articles related to Congenital Megacalycosis:

# Title Authors PMID Year
1
[Congenital megacalycosis in a girl with unilateral renal agenesis]. 61
29775450 2018
2
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features. 61
29333303 2017
3
Congenital megacalycosis with IgA nephropathy: a case report and review of the literature. 61
23252475 2013
4
Bilateral congenital megacalycosis in a young male patient. 61
16293636 2006
5
Megacalycosis: report of two cases. 61
15785940 2005
6
Congenital megacalycosis: a forgotten diagnosis? 61
15708059 2005
7
[Megacalycosis in childhood]. 61
3239257 1988
8
Vascular polyps of ureter associated with megacalycosis and nephrolithiasis. 61
3660528 1987
9
Association of congenital megacalycosis and ipsilateral segmental megaureter. 61
3822580 1987
10
[Congenital megacalycosis]. 61
7073878 1982

Variations for Congenital Megacalycosis

Expression for Congenital Megacalycosis

Search GEO for disease gene expression data for Congenital Megacalycosis.

Pathways for Congenital Megacalycosis

GO Terms for Congenital Megacalycosis

Sources for Congenital Megacalycosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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