ORPHA:2260
Oligomeganephronia
Synonyms: Oligomeganephronic renal hypoplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- All ages
- Status
- active
A rare kidney malformation characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oligomeganephronia | Oligomeganephronic renal hypoplasia |
| fr | Oligoméganéphronie | Hypoplasie rénale oligoméganéphronique |
| de | Oligomeganephronie | |
| es | Oligomeganefronia | |
| it | Oligomeganefronia | |
| nl | Oligomeganefronie | Oligomeganefronische hypoplasie van nier |
| pt | Oligomeganefronia | Hipoplasia renal oligomeganefrónica |
| pl | Oligomeganefronia | Oligomeganefronowa hipoplazja nerek |
| cs | Oligomeganefronie | Oligomeganefronická renální hypoplázie |
| uk | Олігомеганефронія | Олігомеганефронічна гіпоплазія нирок |
| zh | 肾小球巨大稀少症 | 肾单位过少性肾发育不全 |
| tr | Oligomeganefroni | Oligomeganefronik renal hipoplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q60.4 | NTBT | attributed | validated |
| ICD-11 | LB30.4 | E | specific | validated |
| MONDO | 0016407 | E | validated | |
| UMLS | C0431694 | E | validated | |
| GARD | 4066 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93546Non-syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
30 annotations · validated 2021-01-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012575 | Abnormal nephron morphology | |
| HP:0012584 | Bilateral renal hypoplasia | |
| HP:0012213 | Decreased glomerular filtration rate | |
| HP:0005563 | Decreased numbers of nephrons | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0030162 | Glomerulomegaly | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| Frequent (79-30%) | ||
| HP:0011035 | Abnormal renal cortex morphology | |
| HP:0025361 | Abnormality of medullary pyramid morphology | |
| HP:0001622 | Premature birth | |
| HP:0000092 | Renal tubular atrophy | |
| HP:0001518 | Small for gestational age | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| Occasional (29-5%) | ||
| HP:0001944 | Dehydration | |
| HP:0001959 | Polydipsia | |
| Very rare (<4-1%) | ||
| HP:0040064 | Abnormality of limbs | |
| HP:0000271 | Abnormality of the face | |
| HP:0009796 | Branchial cyst | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000365 | Hearing impairment | |
| HP:0000822 | Hypertension | |
| HP:0000347 | Micrognathia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000588 | Optic disc coloboma | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0006518 | Pulmonary venous occlusion | |
| HP:0001684 | Secundum atrial septal defect | |
| HP:0001250 | Seizure | |
| HP:0000122 | Unilateral renal agenesis | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 24765519[PMID]_32520748[PMID]_25731007[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2260
- This record as JSON: /data/d/2260.json