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 57 74 29 6 40
Vmckd 57 59 74
Congenital Nephrosis-Cerebral Ventriculomegaly Syndrome 59
Cystic Kidney Disease with Ventriculomegaly 72
Ventriculomegaly-Cystic Kidney Disease 59

Characteristics:

Orphanet epidemiological data:

59
ventriculomegaly-cystic kidney disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: infantile,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ventriculomegaly with cystic kidney disease:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 219730
UMLS via Orphanet 73 C1857423
Orphanet 59 ORPHA443988
MedGen 42 C1857423
UMLS 72 C1857423

Summaries for Ventriculomegaly with Cystic Kidney Disease

OMIM : 57 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 : 74 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:

32 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 32 occasional (7.5%) HP:0001629
2 premature birth 32 occasional (7.5%) HP:0001622
3 gray matter heterotopia 32 occasional (7.5%) HP:0002282
4 hydrocephalus 32 HP:0000238
5 seizures 32 HP:0001250
6 renal insufficiency 32 HP:0000083
7 ventriculomegaly 32 HP:0002119
8 polyhydramnios 32 HP:0001561
9 postaxial polydactyly 32 HP:0100259
10 dilatation 32 HP:0002617
11 renal corticomedullary cysts 32 HP:0000108

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ventriculomegaly
dilated ventricles
hydrocephaly
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 29 CRB2

Anatomical Context for Ventriculomegaly with Cystic Kidney Disease

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

41
Kidney

Publications for Ventriculomegaly with Cystic Kidney Disease

Articles related to Ventriculomegaly with Cystic Kidney Disease:

(showing 2, show less)
# Title Authors PMID Year
1
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. 8 71
25557780 2015
2
Prenatal diagnosis of cystic kidney disease with ventriculomegaly: a report of six cases in two related sibships. 38 8
2478019 1989

Variations for Ventriculomegaly with Cystic Kidney Disease

ClinVar genetic disease variations for Ventriculomegaly with Cystic Kidney Disease:

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

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

74 (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

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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