VMCKD
MCID: VNT030
MIFTS: 22

Ventriculomegaly with Cystic Kidney Disease (VMCKD)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ventriculomegaly with Cystic Kidney Disease

MalaCards integrated aliases for Ventriculomegaly with Cystic Kidney Disease:

Name: Ventriculomegaly with Cystic Kidney Disease 58 76 30 6 41
Vmckd 58 60 76
Congenital Nephrosis-Cerebral Ventriculomegaly Syndrome 60
Cystic Kidney Disease with Ventriculomegaly 74
Ventriculomegaly-Cystic Kidney Disease 60

Characteristics:

Orphanet epidemiological data:

60
ventriculomegaly-cystic kidney disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: infantile,stillbirth;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
most pregnancies with affected fetuses resulted in elective termination


HPO:

33
ventriculomegaly with cystic kidney disease:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ventriculomegaly with Cystic Kidney Disease

OMIM : 58 Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015). See also 602200 for a disorder characterized by ventriculomegaly and defects of the radius and kidney. (219730)

MalaCards based summary : Ventriculomegaly with Cystic Kidney Disease, is also known as vmckd, and has symptoms including seizures An important gene associated with Ventriculomegaly with Cystic Kidney Disease is CRB2 (Crumbs Cell Polarity Complex Component 2). Affiliated tissues include kidney, and related phenotypes are ventricular septal defect and premature birth

UniProtKB/Swiss-Prot : 76 Ventriculomegaly with cystic kidney disease: A severe autosomal recessive developmental disorder manifesting in utero. It is characterized by cerebral ventriculomegaly, echogenic kidneys, microscopic renal tubular cysts and findings of congenital nephrosis.

Related Diseases for Ventriculomegaly with Cystic Kidney Disease

Symptoms & Phenotypes for Ventriculomegaly with Cystic Kidney Disease

Human phenotypes related to Ventriculomegaly with Cystic Kidney Disease:

33 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 33 occasional (7.5%) HP:0001629
2 premature birth 33 occasional (7.5%) HP:0001622
3 hydrocephalus 33 HP:0000238
4 seizures 33 HP:0001250
5 renal insufficiency 33 HP:0000083
6 ventriculomegaly 33 HP:0002119
7 polyhydramnios 33 HP:0001561
8 postaxial polydactyly 33 HP:0100259
9 dilatation 33 HP:0002617
10 renal corticomedullary cysts 33 HP:0000108

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ventriculomegaly
hydrocephaly
dilated ventricles
focal hyperplasia of the choroid plexus
more
Genitourinary Kidneys:
renal failure
echogenic kidneys
echodense kidneys on ultrasound
cystic tubular dilatation in the corticomedullary area and medulla
cysts contain eosinophilic proteinaceous material
more
Skeletal Hands:
postaxial polydactyly (1 fetus)

Laboratory Abnormalities:
increased alpha-fetoprotein in amniotic fluid
increased acetylcholinesterase (ache) in amniotic fluid

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
increased amniotic fluid

Cardiovascular Heart:
ventricular septal defect (1 patient)

Prenatal Manifestations Delivery:
premature delivery (in some patients)

Clinical features from OMIM:

219730

UMLS symptoms related to Ventriculomegaly with Cystic Kidney Disease:


seizures

Drugs & Therapeutics for Ventriculomegaly with Cystic Kidney Disease

Search Clinical Trials , NIH Clinical Center for Ventriculomegaly with Cystic Kidney Disease

Genetic Tests for Ventriculomegaly with Cystic Kidney Disease

Genetic tests related to Ventriculomegaly with Cystic Kidney Disease:

# Genetic test Affiliating Genes
1 Ventriculomegaly with Cystic Kidney Disease 30 CRB2

Anatomical Context for Ventriculomegaly with Cystic Kidney Disease

MalaCards organs/tissues related to Ventriculomegaly with Cystic Kidney Disease:

42
Kidney

Publications for Ventriculomegaly with Cystic Kidney Disease

Articles related to Ventriculomegaly with Cystic Kidney Disease:

(showing 2, show less)
# Title Authors Year
1
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. ( 25557780 )
2015
2
Prenatal diagnosis of cystic kidney disease with ventriculomegaly: a report of six cases in two related sibships. ( 2478019 )
1989

Variations for Ventriculomegaly with Cystic Kidney Disease

UniProtKB/Swiss-Prot genetic disease variations for Ventriculomegaly with Cystic Kidney Disease:

76 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 CRB2 p.Arg633Trp VAR_073269 rs730880377
2 CRB2 p.Glu643Ala VAR_073270 rs730880300
3 CRB2 p.Asn800Lys VAR_073271 rs765676223

ClinVar genetic disease variations for Ventriculomegaly with Cystic Kidney Disease:

6 (showing 8, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRB2 NM_173689.6(CRB2): c.2277G> A (p.Trp759Ter) single nucleotide variant Pathogenic rs375072557 GRCh37 Chromosome 9, 126133698: 126133698
2 CRB2 NM_173689.6(CRB2): c.2277G> A (p.Trp759Ter) single nucleotide variant Pathogenic rs375072557 GRCh38 Chromosome 9, 123371419: 123371419
3 CRB2 NM_173689.6(CRB2): c.1928A> C (p.Glu643Ala) single nucleotide variant Likely pathogenic rs730880300 GRCh38 Chromosome 9, 123371070: 123371070
4 CRB2 NM_173689.6(CRB2): c.1928A> C (p.Glu643Ala) single nucleotide variant Likely pathogenic rs730880300 GRCh37 Chromosome 9, 126133349: 126133349
5 CRB2 NM_173689.7(CRB2): c.1897C> T (p.Arg633Trp) single nucleotide variant Pathogenic rs730880377 GRCh38 Chromosome 9, 123370950: 123370950
6 CRB2 NM_173689.7(CRB2): c.1897C> T (p.Arg633Trp) single nucleotide variant Pathogenic rs730880377 GRCh37 Chromosome 9, 126133229: 126133229
7 CRB2 NM_173689.6(CRB2): c.2400C> G (p.Asn800Lys) single nucleotide variant Likely pathogenic rs765676223 GRCh37 Chromosome 9, 126133821: 126133821
8 CRB2 NM_173689.6(CRB2): c.2400C> G (p.Asn800Lys) single nucleotide variant Likely pathogenic rs765676223 GRCh38 Chromosome 9, 123371542: 123371542

Expression for Ventriculomegaly with Cystic Kidney Disease

Search GEO for disease gene expression data for Ventriculomegaly with Cystic Kidney Disease.

Pathways for Ventriculomegaly with Cystic Kidney Disease

GO Terms for Ventriculomegaly with Cystic Kidney Disease

Sources for Ventriculomegaly with Cystic Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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