Oligomeganephronia

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.



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Narrow down the case reports



Total: 19 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(66.3%)		 4024943
 Familial occurrence of oligomeganephronia.
Kusuyama Y, Tsukino R, Oomori H, Kuribayashi K, Katayama H, Koike M, Saito K.
Acta Pathol Jpn. 1985;35(2):449-57.
Short philtrum Micrognathia
Chromosomes, Human, 4-5 Heart Septal Defects Homo sapiens Infant Male Microcephaly Monosomy Nephrons
2
(57.8%)		 10861677
 Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity.
Keymolen K, Van Damme-Lombaerts R, Verloes A, Fryns JP.
Am J Med Genet. 2000;93(1):19-21.
Micrognathia
Females Homo sapiens Infant, Newborn Intellectual Disability Kidney Limb Deformities, Congenital Male Micrognathism Myopia Nuclear Family
3
(40.2%)		 9332654
 Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome.
Anderson CE, Wallerstein R, Zamerowski ST, Witzleben C, Hoyer JR, Gibas L, Jackson LG.
Am J Med Genet. 1997;72(3):281-5.
Microcephaly Large beaked nose
Adult Chromosomes, Human, Pair 4 Craniofacial Dysostosis Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Kidney Male Mosaicism Ring Chromosomes Syndrome
4
(36.8%)		 2773925
 Acrorenal syndrome in an adult--presentation with proteinuria, hypertension, and glomerular lesions.
Zeier M, Tariverdian G, Waldherr R, Andrassy K, Ritz E.
Am J Kidney Dis. 1989;14(3):221-4.
Proteinuria Pectus excavatum Split hand
Adult Glomerulonephritis Homo sapiens Kidney Limb Deformities, Congenital Male Proteinuria
5
(35.3%)		 11434182
 [A nineteen year observation of a boy with branchio-oto-renal syndrome and chronic renal failure].
Sikora P, Zajaczkowska M, Katska E, Niedzielska G.
Pol Merkur Lekarski. 2001;10(58):291-3.
Preauricular pit Facial paralysis
Branchio-Oto-Renal Syndrome Homo sapiens Kidney Failure, Chronic Male
6
(34.6%)		 6714259
 A new variant of the acrorenal syndrome associated with bilateral oligomeganephronic hypoplasia.
Miltenyi M, Balogh L, Schmidt K, Detre Z, Hernady T, Czeizel A.
Eur J Pediatr. 1984;142(1):40-3.
Split hand
Adult Congenital Foot Deformity Congenital Hand Deformities Growth Disorders Homo sapiens Infant, Newborn Kidney Kidney Failure, Chronic Male Nephrons Syndrome
7
(29.4%)		 11139890
 [Branchio-oto-renal syndrome (BOR syndrome). A dysplasia syndrome with branchial abnormalities, deafness and kidney disease].
Holzmuller M.
HNO. 2000;48(11):839-42.
Hearing impairment Lacrimal duct stenosis
Audiometry, Pure-Tone Branchio-Oto-Renal Syndrome Child Differential Diagnosis Evoked Response Audiometry External Ear Females Homo sapiens
8
(4.0%)		 29193639
 Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.
Gatto A, Ferrara P, Leoni C, Onesimo R, Zollino M, Emma F, Zampino G.
Am J Med Genet A. 2018;176(2):409-414.
Proteinuria
Angiotensin-Converting Enzyme Inhibitors Child Chromosome Deletion Chromosomes, Human, Pair 4 Homo sapiens Kidney Kidney Function Tests Male Wolf-Hirschhorn Syndrome
8
(4.0%)		 27717313
(5055680)
 Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report.
Sugimoto K, Miyazawa T, Nishi H, Miyazaki K, Enya T, Okada M, Takemura T.
BMC Nephrol. 2016;17(1):146.
Total colonic aganglionosis
RET
p|SUB|S|811|F
Child Congenital Abnormality Females Heterozygote Hirschsprung Disease Homo sapiens Kidney Kidney Diseases Protein Structure, Secondary Proto-Oncogene Proteins c-ret Tertiary Protein Structure
8
(4.0%)		 25731007
 Oligomeganephronia: case report and literature review.
Yang XD, Shi W, Li D, Peng T.
Srp Arh Celok Lek. 2014;142(11-12):732-5.
Proteinuria
Adult Homo sapiens Kidney Kidney Diseases Male Ultrasonography
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 9

HPO ID Term # of case reports
HP:0000093 Proteinuria 1
HP:0000099 Glomerulonephritis 1
HP:0000103 Polyuria 1
HP:0000545 Myopia 1
HP:0001250 Seizures 1
HP:0001298 Encephalopathy 1
HP:0001995 Hyperchloremic acidosis 1
HP:0011286 Total colonic aganglionosis 1
HP:0012595 Mild proteinuria 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID