MCID: OLG021
MIFTS: 39

Oligomeganephronia

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Oligomeganephronia

MalaCards integrated aliases for Oligomeganephronia:

Name: Oligomeganephronia 12 20 58 15
Oligomeganephronic Renal Hypoplasia 12 20 58
Oligomeganephronic Hypoplasia of Kidney 70

Characteristics:

Orphanet epidemiological data:

58
oligomeganephronia
Inheritance: Multigenic/multifactorial; Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Oligomeganephronia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2260 Definition Oligomeganephronia 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. Epidemiology Prevalence is unknown. The male to female ratio is of 3:1. Clinical description Oligomeganephronia is usually detected on routine ultrasound screening 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. Etiology The 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- organ syndrome 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 methods Diagnosis 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 diagnosis Differential diagnosis includes renal dysplasia, nephronophthisis, (see these terms), medullary cystic kidney disease, renal infarction or ischemic renal disease, and diffuse renal parenchymal disease. Antenatal diagnosis Antenatal ultrasonographic screening is becoming routine and allows detection of oligomeganephronia from midway through gestation. Genetic counseling Most cases are sporadic, but familial occurrence has been described. Management and treatment Angiotensin-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. Prognosis With 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).

MalaCards based summary : Oligomeganephronia, also known as oligomeganephronic renal hypoplasia, is related to renal cysts and diabetes syndrome and papillorenal syndrome. An important gene associated with Oligomeganephronia is PAX2 (Paired Box 2), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin/Neph1 signaling in the kidney podocyte. Affiliated tissues include kidney, cortex and eye, and related phenotypes are proteinuria and bilateral renal hypoplasia

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

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 renal cysts and diabetes syndrome 31.9 PAX2 HNF1B
2 papillorenal syndrome 31.6 PAX2 HNF1B EYA1
3 renal hypoplasia 30.6 PAX2 HNF1B EYA1
4 renal dysplasia 30.1 PAX2 HNF1B
5 renal hypodysplasia/aplasia 1 29.9 PAX2 HNF1B EYA1 DSTYK
6 vesicoureteral reflux 1 29.7 PAX2 EYA1 DSTYK
7 iga glomerulonephritis 29.4 NPHS2 NPHS1 CD2AP
8 glomerulonephritis 29.1 NPHS2 NPHS1 APOL1
9 proteinuria, chronic benign 28.8 NPHS2 NPHS1 INF2 CD2AP APOL1 ACTN4
10 focal segmental glomerulosclerosis 28.1 PAX2 NPHS2 NPHS1 INF2 COQ8B CD2AP
11 end stage renal disease 28.0 PAX2 NPHS2 NPHS1 INF2 CD2AP APOL1
12 kidney disease 28.0 PAX2 NPHS2 NPHS1 INF2 HNF1B EYA1
13 split-hand/foot malformation 3 10.9
14 fallopian tube endometrioid adenocarcinoma 10.2 PAX2 HNF1B
15 mayer-rokitansky-kuster-hauser syndrome 10.2 PAX2 HNF1B
16 tubulointerstitial kidney disease, autosomal dominant, 1 10.2 PAX2 HNF1B
17 prune belly syndrome 10.2 PAX2 HNF1B
18 focal segmental glomerulosclerosis 8 10.1 INF2 COQ8B
19 clear cell adenocarcinoma 10.1 PAX2 HNF1B
20 focal segmental glomerulosclerosis 9 10.1 INF2 COQ8B
21 diarrhea 10.1
22 ureteral disease 10.1 PAX2 NPHS1
23 glomerular disease 10.1 CD2AP ACTN4
24 oligohydramnios 10.1 PAX2 INF2 HNF1B
25 focal segmental glomerulosclerosis 7 10.0 PAX2 INF2 COQ8B
26 idiopathic steroid-resistant nephrotic syndrome 10.0 NPHS2 NPHS1
27 congenital syphilis 10.0 NPHS2 NPHS1
28 coloboma of macula 10.0
29 wolf-hirschhorn syndrome 10.0
30 microcephaly 10.0
31 townes-brocks syndrome 10.0 PAX2 HNF1B EYA1
32 bilateral renal aplasia 10.0 PAX2 EYA1 DSTYK
33 kidney hypertrophy 10.0 NPHS2 NPHS1
34 congenital anomalies of kidney and urinary tract 2 10.0 PAX2 EYA1 DSTYK
35 branchiootorenal syndrome 10.0 PAX2 HNF1B EYA1
36 nephrotic syndrome, type 10 10.0 NPHS2 NPHS1
37 acute proliferative glomerulonephritis 10.0 NPHS2 NPHS1
38 diffuse mesangial sclerosis 9.9 PAX2 NPHS2 NPHS1
39 crescentic glomerulonephritis 9.9 NPHS2 ACTN4
40 hypoparathyroidism, sensorineural deafness, and renal disease 9.9 NPHS2 NPHS1 ACTN4
41 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.9 NPHS2 NPHS1 ACTN4
42 hypertelorism 9.8
43 seckel syndrome 9.8
44 urinary tract infection 9.8
45 hypospadias 9.8
46 intestinal disease 9.8
47 cleft lip 9.8
48 pax2-related disorder 9.8
49 ring chromosome 4 9.8
50 cleft lip/palate 9.8

Graphical network of the top 20 diseases related to Oligomeganephronia:



Diseases related to Oligomeganephronia

Symptoms & Phenotypes for Oligomeganephronia

Human phenotypes related to Oligomeganephronia:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
2 bilateral renal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012584
3 elevated serum creatinine 58 31 hallmark (90%) Very frequent (99-80%) HP:0003259
4 decreased glomerular filtration rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0012213
5 decreased numbers of nephrons 58 31 hallmark (90%) Very frequent (99-80%) HP:0005563
6 glomerulomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0030162
7 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
8 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
9 stage 5 chronic kidney disease 58 31 frequent (33%) Frequent (79-30%) HP:0003774
10 renal tubular atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000092
11 abnormality of medullary pyramid morphology 58 31 frequent (33%) Frequent (79-30%) HP:0025361
12 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
13 polydipsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001959
14 hypertension 58 31 very rare (1%) Very rare (<4-1%) HP:0000822
15 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
16 micrognathia 58 31 very rare (1%) Very rare (<4-1%) HP:0000347
17 neurodevelopmental delay 58 31 very rare (1%) Very rare (<4-1%) HP:0012758
18 abnormality of the face 58 31 very rare (1%) Very rare (<4-1%) HP:0000271
19 congenital diaphragmatic hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0000776
20 branchial cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0009796
21 optic nerve coloboma 58 31 very rare (1%) Very rare (<4-1%) HP:0000588
22 unilateral renal agenesis 58 31 very rare (1%) Very rare (<4-1%) HP:0000122
23 pulmonary hypoplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0002089
24 secundum atrial septal defect 58 31 very rare (1%) Very rare (<4-1%) HP:0001684
25 abnormality of limbs 58 31 very rare (1%) Very rare (<4-1%) HP:0040064
26 pulmonary venous occlusion 58 31 very rare (1%) Very rare (<4-1%) HP:0006518
27 seizure 31 very rare (1%) HP:0001250
28 seizures 58 Very rare (<4-1%)
29 renal insufficiency 58 Very frequent (99-80%)
30 abnormal nephron morphology 58 Very frequent (99-80%)
31 abnormal renal cortex morphology 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Oligomeganephronia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.7 ACTN4 COQ8B EYA1 HNF1B INF2 NELFA
2 mortality/aging MP:0010768 9.61 ACTN4 CD2AP COQ8B EYA1 HNF1B NELFA
3 renal/urinary system MP:0005367 9.23 ACTN4 CD2AP COQ8B EYA1 HNF1B NPHS1

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:

40
Kidney, Cortex, Eye

Publications for Oligomeganephronia

Articles related to Oligomeganephronia:

(show top 50) (show all 62)
# Title Authors PMID Year
1
PAX2 Mutation-Related Oligomeganephronia in a Young Adult Patient. 61
33363218 2020
2
Renal Hypoplasia, From Grossly Insufficient to Not Quite Enough: Consideration for Expanded Concepts Based Upon the Author's Perspective With Historical Review. 61
32520748 2020
3
Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases. 61
32820208 2020
4
TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome? 61
30088155 2019
5
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation. 61
29193639 2018
6
Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report. 61
27717313 2016
7
Oligomeganephronia: case report and literature review. 61
25731007 2014
8
Congenital oligomeganephronia: computed tomography appearance. 61
24765519 2013
9
A case of late-onset oligomeganephronia. 61
23318829 2012
10
Oligomeganephronia in an adult without end stage renal failure. 61
22116503 2012
11
Renal coloboma syndrome. 61
21654726 2011
12
Three cases of late-onset oligomeganephronia. 61
25984091 2011
13
TCF2 gene mutation leads to nephro-urological defects of unequal severity: an open question. 61
18509286 2008
14
Oligomeganephronia in Wolf-Hirschhorn Syndrome. 61
17079842 2006
15
Age-related pathophysiological changes in rat oligomeganephronic hypoplastic kidney. 61
16572339 2006
16
Renal outcome of children exposed to cyclosporine in utero. 61
15041338 2004
17
Oligomeganephronia: an unexpected cause of chronic renal failure. 61
18202467 2004
18
Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers. 61
12911528 2003
19
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. 61
12874457 2003
20
Oligonephropathy: from a rare childhood disorder to a possible health problem in the adult. 61
11908261 2002
21
Muromonab-CD3-induced neurotoxicity: report of two siblings, one of whom had subsequent cyclosporin-induced neurotoxicity. 61
11732768 2001
22
[A nineteen year observation of a boy with branchio-oto-renal syndrome and chronic renal failure]. 61
11434182 2001
23
PAX2 mutations in oligomeganephronia. 61
11168927 2001
24
[Branchio-oto-renal syndrome (BOR syndrome). A dysplasia syndrome with branchial abnormalities, deafness and kidney disease]. 61
11139890 2000
25
Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity. 61
10861677 2000
26
Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. 61
9332654 1997
27
[Renal agenesis, renal dysplasia, renal aplasia, renal hypoplasia, oligomeganephronia]. 61
9277763 1997
28
Oligomeganephronic renal hypoplasia. 61
8922124 1997
29
Acrorenal syndrome associated with visual defect. 61
8971900 1996
30
Deficient metanephric blastema--a cause of oligomeganephronia? 61
7855013 1994
31
[A case of oligomeganephronia--quantitative measurement of the glomerular surface area and the number of glomeruli with a color image analyzer]. 61
8196224 1994
32
Oligomeganephronia associated with 4p deletion type chromosomal anomaly. 61
8108293 1993
33
Autosomal recessive acrorenal syndrome. 61
1344975 1992
34
[Three cases of oligomeganephronia]. 61
2082055 1990
35
[Oligomeganephronic renal hypoplasia complicated by glomerulonephritis]. 61
2353904 1990
36
Focal glomerular sclerotic lesions in a patient with unilateral oligomeganephronia and agenesis of the contralateral kidney: a case report. 61
2302873 1990
37
Acrorenal syndrome in an adult--presentation with proteinuria, hypertension, and glomerular lesions. 61
2773925 1989
38
Glomeruli and blood pressure. Less of one, more the other? 61
3063284 1988
39
[Oligomeganephronia in an adolescent]. 61
3205660 1988
40
Monozygotic twins non-concordant for oligomeganephronic renal hypoplasia: artery-vein placental shunting as a possible pathogenetic mechanism. 61
3955916 1986
41
Familial occurrence of oligomeganephronia. 61
4024943 1985
42
Oligomeganephronic renal hypoplasia with tapetoretinal degeneration. Report of one case with ultrastructural study of the renal biopsy. 61
3931347 1985
43
Intrauterine twin demise and oligomeganephronia. 61
4040612 1985
44
[Oligomeganephronia with multiple anomalies]. 61
6152474 1984
45
Oligomeganephronic renal hypoplasia in two siblings. 61
6737151 1984
46
The significance of focal segmental glomerulosclerosis in oligomeganephronia. 61
6490319 1984
47
A new variant of the acrorenal syndrome associated with bilateral oligomeganephronic hypoplasia. 61
6714259 1984
48
Oligomeganephronic renal hypoplasia. 61
6728725 1984
49
[Oligomeganephronia]. 61
6694651 1984
50
Renal disorders in the branchio-oto-renal syndrome. 61
6668201 1983

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 10.97 PAX2 NPHS2 NPHS1 INF2 CD2AP ACTN4
2 10.75 NPHS2 NPHS1 CD2AP
3 10.47 NPHS1 CD2AP ACTN4

GO Terms for Oligomeganephronia

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.35 PAX2 NPHS2 EYA1 CD2AP ACTN4
2 cell-cell junction GO:0005911 9.33 NPHS2 NPHS1 CD2AP
3 protein-DNA complex GO:0032993 9.26 PAX2 EYA1
4 slit diaphragm GO:0036057 8.62 NPHS2 NPHS1

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 9.67 PAX2 HNF1B EYA1 ACTN4
2 branching involved in ureteric bud morphogenesis GO:0001658 9.32 PAX2 EYA1
3 excretion GO:0007588 9.26 NPHS2 NPHS1
4 cochlea morphogenesis GO:0090103 9.16 PAX2 EYA1
5 pronephros development GO:0048793 8.96 PAX2 HNF1B
6 mesodermal cell fate specification GO:0007501 8.62 PAX2 EYA1

Sources for Oligomeganephronia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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