MCID: OLG021
MIFTS: 27

Oligomeganephronia

Categories: Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Oligomeganephronia

MalaCards integrated aliases for Oligomeganephronia:

Name: Oligomeganephronia 12 53 59
Oligomeganephronic Renal Hypoplasia 12 53 59
Oligomeganephronic Hypoplasia of Kidney 73

Characteristics:

Orphanet epidemiological data:

59
oligomeganephronia
Inheritance: Multigenic/multifactorial; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0111142
ICD10 33 Q60.4
Orphanet 59 ORPHA2260
ICD10 via Orphanet 34 Q60.4
UMLS 73 C0431694

Summaries for Oligomeganephronia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2260Disease definitionOligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia (see this term), characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.EpidemiologyPrevalence is unknown. The male to female ratio is of 3:1.Clinical descriptionOligomeganephronia is usually detected on routine ultrasoundscreening with small but normal shaped kidneys. Birth weight is often below the average value. Patients may present at birth with polyuria/polydipsia or signs of renal dysfunction such as anemia. During the first year of life, the usual symptom is persistent anorexia with vomiting, fever, and height-weight growth delay. Renal failure typically occurs during childhood or adolescence. Adult-onset oligomeganephronia has been reported in some rare cases.EtiologyThe etiology of oligomeganephronia is not fully understood, but is hypothesized to be caused by premature termination of nephrogenesis. This may be linked to the same factors as renal hypoplasia, but with a more severe reduction in nephron numbers. Such factors include intrauterine growth restriction, maternal diseases (diabetes, hypertension), maternal drug intake (inhibitors of the renin-angiotensin system or non-steroidal anti-inflammatory drugs (NSAIDs)) or intoxication (smoking and alcohol). Premature birth (before the 36th week) is also a risk factor due to incomplete nephrogenesis. Oligomeganephronia can occur as part of a multi-organsyndrome such as renal coloboma syndrome (see this term), which is caused by mutations in the PAX2 gene (10q24.31), or can be caused by chromosomal disorders including 22q11 deletion syndrome or Wolf-Hirschhorn syndrome (see this term).Diagnostic methodsDiagnosis can be suspected by bilateral small and echogenic kidneys on ultrasound. CT-scan may, in addition to small normal-shaped kidneys, show a thickened cortex and medulla with striated nephrograms. The diagnosis is confirmed histologically by a reduced number of nephrons, hypertrophic glomeruli with diameters being two to three times the normal size, hypertrophic tubules and thickening of Bowman's capsule. Both kidneys are symmetrically affected.Differential diagnosisDifferential diagnosis includes renal dysplasia, nephronophthisis, (see these terms), medullary cystic kidney disease, renal infarction or ischemic renal disease, and diffuse renal parenchymal disease.Antenatal diagnosisAntenatal ultrasonographic screening is becoming routine and allows detection of oligomeganephronia from midway through gestation.Genetic counselingMost cases are sporadic, but familial occurrence has been described.Management and treatmentAngiotensin-converting-enzyme inhibitors may slow the progression of the disease. Once having reached the stage of terminal renal failure, management includes a dialysis-transplantation program.PrognosisWith the increasing metabolic demands on the kidney during growth, a decline in renal function is seen resulting in chronic renal failure at a mean age of 10 years (range 6 months to 20 years).Visit the Orphanet disease page for more resources.

MalaCards based summary : Oligomeganephronia, also known as oligomeganephronic renal hypoplasia, is related to papillorenal syndrome and renal cysts and diabetes syndrome. An important gene associated with Oligomeganephronia is PAX2 (Paired Box 2), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, cortex and colon.

Disease Ontology : 12 A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons.

Related Diseases for Oligomeganephronia

Graphical network of the top 20 diseases related to Oligomeganephronia:



Diseases related to Oligomeganephronia

Symptoms & Phenotypes for Oligomeganephronia

Drugs & Therapeutics for Oligomeganephronia

Search Clinical Trials , NIH Clinical Center for Oligomeganephronia

Genetic Tests for Oligomeganephronia

Anatomical Context for Oligomeganephronia

MalaCards organs/tissues related to Oligomeganephronia:

41
Kidney, Cortex, Colon

Publications for Oligomeganephronia

Articles related to Oligomeganephronia:

(show all 28)
# Title Authors Year
1
Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report. ( 27717313 )
2016
2
Oligomeganephronia: case report and literature review. ( 25731007 )
2014
3
Congenital oligomeganephronia: computed tomography appearance. ( 24765519 )
2013
4
A case of late-onset oligomeganephronia. ( 23318829 )
2012
5
Oligomeganephronia in an adult without end stage renal failure. ( 22116503 )
2012
6
Three cases of late-onset oligomeganephronia. ( 25984091 )
2011
7
Oligomeganephronia in Wolf-Hirschhorn Syndrome. ( 17079842 )
2006
8
Oligomeganephronia: an unexpected cause of chronic renal failure. ( 18202467 )
2004
9
PAX2 mutations in oligomeganephronia. ( 11168927 )
2001
10
Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. ( 9332654 )
1997
11
Oligomeganephronic renal hypoplasia. ( 8922124 )
1997
12
Deficient metanephric blastema--a cause of oligomeganephronia? ( 7855013 )
1994
13
Oligomeganephronia associated with 4p deletion type chromosomal anomaly. ( 8108293 )
1993
14
Focal glomerular sclerotic lesions in a patient with unilateral oligomeganephronia and agenesis of the contralateral kidney: a case report. ( 2302873 )
1990
15
Monozygotic twins non-concordant for oligomeganephronic renal hypoplasia: artery-vein placental shunting as a possible pathogenetic mechanism. ( 3955916 )
1986
16
Oligomeganephronic renal hypoplasia with tapetoretinal degeneration. Report of one case with ultrastructural study of the renal biopsy. ( 3931347 )
1985
17
Intrauterine twin demise and oligomeganephronia. ( 4040612 )
1985
18
Familial occurrence of oligomeganephronia. ( 4024943 )
1985
19
Oligomeganephronic renal hypoplasia. ( 6728725 )
1984
20
The significance of focal segmental glomerulosclerosis in oligomeganephronia. ( 6490319 )
1984
21
Oligomeganephronic renal hypoplasia in two siblings. ( 6737151 )
1984
22
Congenital oligomeganephronia in a solitary kidney: report of a case. ( 7072713 )
1982
23
Oligomeganephronic renal hypoplasia. ( 7465259 )
1980
24
Bilateral renal hypoplasia with oligomeganephronia. ( 860352 )
1977
25
Oligomeganephronia with covered anus in twins. ( 565200 )
1977
26
Renal hypoplasia with oligomeganephronia: light, electron, fluorescent microscopic and quantitative studies. ( 4811585 )
1974
27
Bilateral renal hypoplasia with oligomeganephronia: quantitative and electron microsopic study. ( 4688553 )
1973
28
Bilateral renal hypoplasia with oligomeganephronia. Oligomeganephronic renal hypoplasia. ( 5481904 )
1970

Variations for Oligomeganephronia

Expression for Oligomeganephronia

Search GEO for disease gene expression data for Oligomeganephronia.

Pathways for Oligomeganephronia

Pathways related to Oligomeganephronia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.75 HNF1B PAX2

GO Terms for Oligomeganephronia

Biological processes related to Oligomeganephronia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.32 HNF1B PAX2
2 negative regulation of apoptotic process GO:0043066 9.26 HNF1B PAX2
3 pronephros development GO:0048793 9.16 HNF1B PAX2
4 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 8.96 HNF1B PAX2
5 nephric duct formation GO:0072179 8.62 HNF1B PAX2

Molecular functions related to Oligomeganephronia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 8.96 HNF1B PAX2
2 proximal promoter sequence-specific DNA binding GO:0000987 8.62 HNF1B PAX2

Sources for Oligomeganephronia

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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