Renal hypoplasia, bilateral
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages
- Status
- active
A form of renal hypoplasia characterized by bilateral abnormally small kidneys with reduced number of nephrons. Patients are usually asymptomatic but may have hypertension, some excretory functional limitations, as well as eventual chronic renal failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal hypoplasia, bilateral | |
| fr | Hypoplasie rénale bilatérale | |
| de | Nierenhypoplasie, bilaterale | |
| es | Hipoplasia renal bilateral | |
| it | Ipoplasia renale bilaterale | |
| nl | Bilaterale renale hypoplasie | |
| pt | Hipoplasia renal, bilateral | |
| pl | Hipoplazja nerek, obustronna | |
| cs | Renální hypoplázie, oboustranná | |
| uk | Гіпоплазія нирок, двостороння | |
| zh | 双侧肾发育不全 | |
| tr | Böbrek hipoplazisi, bilateral |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q60.4 | E | specific | validated |
| ICD-11 | LB30.0Y | NTBT | index | validated |
| MONDO | 0019980 | E | validated | |
| UMLS | C0431692 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93101Renal hypoplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAX2 | Major susceptibility factor in | Assessed | HGNC:8616 | ENSG00000075891 | 167409 | 10q24.31 | paired box 2 | 11461952[PMID]_23539225[PMID]_22138676[PMID]_17513325[PMID] |
| PBX1 | Role in the phenotype of | Assessed | HGNC:8632 | ENSG00000185630 | 176310 | 1q23.3 | PBX homeobox 1 | 28270404[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
31 annotations · validated 2022-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000089 | Renal hypoplasia | |
| Frequent (79-30%) | ||
| HP:0012622 | Chronic kidney disease | |
| HP:0012213 | Decreased glomerular filtration rate | |
| HP:0011968 | Feeding difficulties | |
| HP:0000822 | Hypertension | |
| HP:0001562 | Oligohydramnios | |
| HP:0002009 | Potter facies | |
| HP:0000093 | Proteinuria | |
| HP:0000107 | Renal cyst | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0000483 | Astigmatism | |
| HP:0025466 | Beta 2-microglobulinuria | |
| HP:0000028 | Cryptorchidism | |
| HP:0000969 | Edema | |
| HP:0001508 | Failure to thrive | |
| HP:0003076 | Glycosuria | |
| HP:0001510 | Growth delay | |
| HP:0002153 | Hyperkalemia | |
| HP:0000540 | Hypermetropia | |
| HP:0002902 | Hyponatremia | |
| HP:0001254 | Lethargy | |
| HP:0001942 | Metabolic acidosis | |
| HP:0002907 | Microscopic hematuria | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000639 | Nystagmus | |
| HP:0100520 | Oliguria | |
| HP:0001622 | Premature birth | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 34295353[PMID]_32520748[PMID]_30241513[PMID]_31060108[PMID]_20828237[PMID]_17403695[PMID]_34696790[PMID]_17403695[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97362
- This record as JSON: /data/d/97362.json