Renal hypoplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages
- Status
- active
A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of nephrons.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal hypoplasia | |
| fr | Hypoplasie rénale | |
| de | Nierenhypoplasie | |
| es | Hipoplasia renal | |
| it | Ipoplasia renale | |
| nl | Hypoplasie van nier | Renale hypoplasie |
| pt | Hipoplasia renal | |
| pl | Hipoplazja nerek | |
| cs | Renální hypoplázie | |
| uk | Гіпоплазія нирок | |
| zh | 肾发育不全 | |
| tr | Böbrek hipoplazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q60.3 | BTNT | specific | validated |
| ICD-10 | Q60.4 | BTNT | specific | validated |
| ICD-10 | Q60.5 | BTNT | specific | validated |
| ICD-11 | LB30.0Y | NTBT | index | validated |
| MONDO | 0019637 | E | validated | |
| UMLS | C0266295 | E | validated | |
| MedDRA | 10049102 | 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 (2):
- ORPHA:357506Genetic non-syndromic renal or urinary tract malformation
rare genetic diseases - ORPHA:93546Non-syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PAX2 | ORPHA:97362Renal hypoplasia, bilateral | Major susceptibility factor in | Assessed | HGNC:8616 | ENSG00000075891 | 167409 | 10q24.31 | paired box 2 | 11461952[PMID]_23539225[PMID]_22138676[PMID]_17513325[PMID] |
| PBX1 | ORPHA:97362Renal hypoplasia, bilateral | 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
20 annotations · validated 2021-03-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011035 | Abnormal renal cortex morphology | |
| HP:0012210 | Abnormal renal morphology | |
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0012622 | Chronic kidney disease | |
| HP:0005563 | Decreased numbers of nephrons | |
| HP:0030162 | Glomerulomegaly | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0000069 | Abnormality of the ureter | |
| HP:0001944 | Dehydration | |
| HP:0000126 | Hydronephrosis | |
| HP:0000822 | Hypertension | |
| HP:0000125 | Pelvic kidney | |
| HP:0001959 | Polydipsia | |
| HP:0001622 | Premature birth | |
| HP:0000093 | Proteinuria | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0001518 | Small for gestational age | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0010481 | Urethral valve | |
| HP:0000076 | Vesicoureteral reflux | |
Annotation source: 32520748[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93101
- This record as JSON: /data/d/93101.json