Ventriculomegaly-cystic kidney disease
Synonyms: Congenital nephrosis-cerebral ventriculomegaly syndrome · VMCKD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ventriculomegaly-cystic kidney disease | Congenital nephrosis-cerebral ventriculomegaly syndrome · VMCKD |
| fr | Syndrome de ventriculomégalie-maladie des kystes rénaux | Syndrome de néphrose congénitale-ventriculomégalie cérébrale · VMCKD |
| de | Ventrikulomegalie mit zystischer Nierenkrankheit | Kongenitale Nephrose mit zerebraler Ventrikulomegalie · VMCKD |
| es | Ventriculomegalia con enfermedad quística renal | Nefrosis congénita con ventriculomegalia cerebral · VMCKD |
| it | Ventricolomegalia-malattia cistica renale | Nefrosi congenita con ventricolomegalia cerebrale · VMCKD |
| nl | Ventriculomegalie - cystische nierziekte | Congenitale nefrose met cerebrale ventriculomegalie · VMCKD |
| pt | Ventriculomegália com doença renal quística | |
| pl | Wentrikulomegalia z torbielowatą chorobą nerek | VMCKD · Wrodzona nefroza z wentrikulomegalią mózgową |
| cs | Ventrikulomegalie a cystická choroba ledvin | Syndrom zahrnující vrozenou nefrózu a cerebrální ventrikulomegalii · VMCKD |
| uk | Вентрикуломегалія - кістозна хвороба нирок | Синдром вродженого нефрозу-церебральної вентрикуломегалії · VMCKD |
| zh | 脑室扩大-囊性肾脏疾病 | 先天性肾病-脑室扩大综合征 |
| tr | Ventrikülomegali-kistik böbrek hastalığı | VMCKD · Doğumsal nefroz-serebral ventrikülomegali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219730 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0009063 | E | validated | |
| MeSH | C565657 | E | validated | |
| UMLS | C1857423 | 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 (3):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18688 | ENSG00000148204 | 609720 | 9q33.3 | crumbs cell polarity complex component 2 | 25557780[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 25557780[PMID]_2478019[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25557780[PMID]_2478019[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/443988
- This record as JSON: /data/d/443988.json