MCID: OLG021
MIFTS: 35

Oligomeganephronia

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Oligomeganephronia

MalaCards integrated aliases for Oligomeganephronia:

Name: Oligomeganephronia 12 54 60 15
Oligomeganephronic Renal Hypoplasia 12 54 60
Oligomeganephronic Hypoplasia of Kidney 74

Characteristics:

Orphanet epidemiological data:

60
oligomeganephronia
Inheritance: Multigenic/multifactorial; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0111142
ICD10 34 Q60.4
ICD10 via Orphanet 35 Q60.4
Orphanet 60 ORPHA2260
UMLS 74 C0431694

Summaries for Oligomeganephronia

NIH Rare Diseases : 54 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 renal hypodysplasia/aplasia 1 and papillorenal syndrome. An important gene associated with Oligomeganephronia is PAX2 (Paired Box 2), and among its related pathways/superpathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and G-protein signaling_H-RAS regulation pathway. Affiliated tissues include kidney, cortex and colon, and related phenotypes are immune system and mortality/aging

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

MGI Mouse Phenotypes related to Oligomeganephronia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.8 FN1 GDNF HNF1B RET TAP1 TGFBI
2 mortality/aging MP:0010768 9.8 FN1 GDNF HNF1B PAX2 RET TAP1
3 endocrine/exocrine gland MP:0005379 9.77 GDNF HNF1B PAX2 RET TGFBI
4 muscle MP:0005369 9.46 FN1 GDNF HNF1B RET
5 neoplasm MP:0002006 9.26 FN1 RET TAP1 TGFBI
6 renal/urinary system MP:0005367 8.92 GDNF HNF1B PAX2 RET

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:

42
Kidney, Cortex, Colon, Thyroid

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
Oligomeganephronic renal hypoplasia. ( 8922124 )
1997
11
Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. ( 9332654 )
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
Intrauterine twin demise and oligomeganephronia. ( 4040612 )
1985
17
Familial occurrence of oligomeganephronia. ( 4024943 )
1985
18
Oligomeganephronic renal hypoplasia with tapetoretinal degeneration. Report of one case with ultrastructural study of the renal biopsy. ( 3931347 )
1985
19
Oligomeganephronic renal hypoplasia. ( 6728725 )
1984
20
Oligomeganephronic renal hypoplasia in two siblings. ( 6737151 )
1984
21
The significance of focal segmental glomerulosclerosis in oligomeganephronia. ( 6490319 )
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 11.15 GDNF PAX2
2 10.72 GDNF RET
3 10.2 GDNF RET
4 9.43 GDNF RET

GO Terms for Oligomeganephronia

Cellular components related to Oligomeganephronia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.62 FN1 TGFBI

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.73 FN1 GDNF PAX2
2 positive regulation of gene expression GO:0010628 9.72 FN1 HNF1B RET
3 negative regulation of apoptotic process GO:0043066 9.63 GDNF HNF1B PAX2
4 cellular response to retinoic acid GO:0071300 9.54 PAX2 RET
5 neural crest cell migration GO:0001755 9.52 GDNF RET
6 branching involved in ureteric bud morphogenesis GO:0001658 9.51 GDNF PAX2
7 ureteric bud development GO:0001657 9.49 GDNF RET
8 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.48 GDNF PAX2
9 enteric nervous system development GO:0048484 9.43 GDNF RET
10 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.4 GDNF PAX2
11 pronephros development GO:0048793 9.37 HNF1B PAX2
12 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.32 GDNF PAX2
13 ureter maturation GO:0035799 9.26 PAX2 RET
14 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.16 HNF1B PAX2
15 nephric duct formation GO:0072179 8.96 HNF1B PAX2
16 positive regulation of metanephric glomerulus development GO:0072300 8.62 PAX2 RET

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

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.96 FN1 TGFBI
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....