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 75 29 6 40
Vmckd 57 59 75
Congenital Nephrosis-Cerebral Ventriculomegaly Syndrome 59
Cystic Kidney Disease with Ventriculomegaly 73
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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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 2, Cell Polarity Complex Component). Affiliated tissues include kidney, and related phenotypes are hydrocephalus and seizures

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ventriculomegaly with Cystic Kidney Disease:

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

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:

# Title Authors Year
1
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:

75
# 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
# 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 CRB2, ASN800LYS undetermined variant Pathogenic
4 CRB2 NM_173689.6(CRB2): c.1928A> C (p.Glu643Ala) single nucleotide variant Likely pathogenic rs730880300 GRCh38 Chromosome 9, 123371070: 123371070
5 CRB2 NM_173689.6(CRB2): c.1928A> C (p.Glu643Ala) single nucleotide variant Likely pathogenic rs730880300 GRCh37 Chromosome 9, 126133349: 126133349
6 CRB2 NM_173689.6(CRB2): c.1897C> T (p.Arg633Trp) single nucleotide variant Pathogenic rs730880377 GRCh38 Chromosome 9, 123370950: 123370950
7 CRB2 NM_173689.6(CRB2): c.1897C> T (p.Arg633Trp) single nucleotide variant Pathogenic rs730880377 GRCh37 Chromosome 9, 126133229: 126133229

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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