ORPHA:93100
Renal agenesis, unilateral
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages, Antenatal
- Status
- active
A form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal agenesis, unilateral | |
| fr | Agénésie rénale unilatérale | |
| de | Nierenagenesie, unilaterale | |
| es | Agenesia renal unilateral | |
| it | Agenesia renale unilaterale | |
| nl | Agenesie van nier, unilateraal | Renale agenesie, unilateraal |
| pt | Agenesia renal unilateral | |
| pl | Agnezja nerki, jednostronna | |
| cs | Renální ageneze, jednostranná | |
| uk | Ниркова агенезія, одностороння | |
| zh | 单侧肾缺如 | |
| tr | Böbrek agenezisi, tek taraflı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617805 | NTBT | validated | |
| ICD-10 | Q60.0 | E | specific | validated |
| ICD-11 | LB30.00 | NTBT | index | validated |
| MONDO | 0019636 | E | validated | |
| UMLS | C0266294 | E | validated | |
| MedDRA | 10053624 | 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:411709Renal agenesis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GREB1L | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:31042 | ENSG00000141449 | 617782 | 18q11.1-q11.2 | GREB1 like retinoic acid receptor coactivator | 29100090[PMID]_29100091[PMID] |
| BMP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:1071 | ENSG00000125378 | 112262 | 14q22.2 | bone morphogenetic protein 4 | 21900877[PMID] |
| DSTYK | Disease-causing germline mutation(s) in | Assessed | HGNC:29043 | ENSG00000133059 | 612666 | 1q32.1 | dual serine/threonine and tyrosine protein kinase | 23862974[PMID]_17273976[PMID] |
| FRAS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19185 | ENSG00000138759 | 607830 | 4q21.21 | Fraser extracellular matrix complex subunit 1 | 21900877[PMID]_24700879[PMID] |
| FREM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23399 | ENSG00000164946 | 608944 | 9p22.3 | FRAS1 related extracellular matrix 1 | 24370773[PMID]_20807610[PMID] |
| FREM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:25396 | ENSG00000150893 | 608945 | 13q13.3 | FRAS1 related extracellular matrix 2 | 21900877[PMID]_24700879[PMID] |
| RET | Disease-causing germline mutation(s) in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 21900877[PMID]_24429398[PMID] |
| UPK3A | Disease-causing germline mutation(s) in | Assessed | HGNC:12580 | ENSG00000100373 | 611559 | 22q13.31 | uroplakin 3A | 15888565[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 50 / 100 000 | Worldwide | Value and class | Validated | 23449343[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93100
- This record as JSON: /data/d/93100.json