VMCKD
MCID: VNT030
MIFTS: 39

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 12 72 29 6 39
Vmckd 57 12 58 72
Cystic Kidney Disease with Ventriculomegaly 12 44 70
Congenital Nephrosis-Cerebral Ventriculomegaly Syndrome 12 58
Ventriculomegaly - Cystic Kidney Disease 12 15
Ventriculomegaly-Cystic Kidney Disease 58

Characteristics:

Orphanet epidemiological data:

58
ventriculomegaly-cystic kidney disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: infantile,stillbirth;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
ventriculomegaly with cystic kidney disease:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


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) (Updated 20-May-2021)

MalaCards based summary : Ventriculomegaly with Cystic Kidney Disease, also known as vmckd, is related to cystic kidney disease and polydactyly, and has symptoms including seizures An important gene associated with Ventriculomegaly with Cystic Kidney Disease is CRB2 (Crumbs Cell Polarity Complex Component 2), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and ECM-receptor interaction. Affiliated tissues include kidney, and related phenotypes are ventricular septal defect and premature birth

Disease Ontology : 12 A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has material basis in homozygous or compound heterozygous mutation in CRB2 on chromosome 9q33.3.

UniProtKB/Swiss-Prot : 72 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

Graphical network of the top 20 diseases related to Ventriculomegaly with Cystic Kidney Disease:



Diseases related to Ventriculomegaly with Cystic Kidney Disease

Symptoms & Phenotypes for Ventriculomegaly with Cystic Kidney Disease

Human phenotypes related to Ventriculomegaly with Cystic Kidney Disease:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 31 occasional (7.5%) HP:0001629
2 premature birth 31 occasional (7.5%) HP:0001622
3 gray matter heterotopia 31 occasional (7.5%) HP:0002282
4 hydrocephalus 31 HP:0000238
5 renal insufficiency 31 HP:0000083
6 polyhydramnios 31 HP:0001561
7 ventriculomegaly 31 HP:0002119
8 postaxial polydactyly 31 HP:0100259
9 seizure 31 HP:0001250
10 vascular dilatation 31 HP:0002617
11 renal corticomedullary cysts 31 HP:0000108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Ventriculomegaly with Cystic Kidney Disease:


seizures

GenomeRNAi Phenotypes related to Ventriculomegaly with Cystic Kidney Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.23 AFP SLCO2A1
2 Decreased viability GR00381-A-1 9.23 CD200 RNF216
3 Decreased viability GR00386-A-1 9.23 GP1BA PSPH SLCO2A1
4 Decreased viability GR00402-S-2 9.23 AFP

MGI Mouse Phenotypes related to Ventriculomegaly with Cystic Kidney Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.85 ATP5MK BBS5 CD200 FAM53B GP1BA GP9
2 homeostasis/metabolism MP:0005376 9.77 AFP ATP5MK BBS5 CD200 CRB2 FAM53B
3 immune system MP:0005387 9.28 ATP5MK BBS5 CD200 GAD2 GP9 KLHDC2

Drugs & Therapeutics for Ventriculomegaly with Cystic Kidney Disease

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

Cochrane evidence based reviews: cystic kidney disease with ventriculomegaly

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:

40
Kidney

Publications for Ventriculomegaly with Cystic Kidney Disease

Articles related to Ventriculomegaly with Cystic Kidney Disease:

# Title Authors PMID Year
1
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. 57 6
25557780 2015
2
Prenatal diagnosis of cystic kidney disease with ventriculomegaly: a report of six cases in two related sibships. 57
2478019 1989
3
Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly. 61
32051522 2020

Variations for Ventriculomegaly with Cystic Kidney Disease

ClinVar genetic disease variations for Ventriculomegaly with Cystic Kidney Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRB2 NM_173689.7(CRB2):c.2277G>A (p.Trp759Ter) SNV Pathogenic 180704 rs375072557 GRCh37: 9:126133698-126133698
GRCh38: 9:123371419-123371419
2 CRB2 NM_173689.7(CRB2):c.1928A>C (p.Glu643Ala) SNV Pathogenic 180706 rs730880300 GRCh37: 9:126133349-126133349
GRCh38: 9:123371070-123371070
3 CRB2 NM_173689.7(CRB2):c.1897C>T (p.Arg633Trp) SNV Pathogenic 180707 rs730880377 GRCh37: 9:126133229-126133229
GRCh38: 9:123370950-123370950
4 CRB2 NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) SNV Pathogenic/Likely pathogenic 546072 rs765676223 GRCh37: 9:126133821-126133821
GRCh38: 9:123371542-123371542
5 CRB2 NM_173689.7(CRB2):c.2225G>A (p.Gly742Glu) SNV Uncertain significance 1027870 GRCh37: 9:126133646-126133646
GRCh38: 9:123371367-123371367
6 CRB2 NM_173689.7(CRB2):c.1859G>C (p.Cys620Ser) SNV Uncertain significance 180699 rs879255250 GRCh37: 9:126133191-126133191
GRCh38: 9:123370912-123370912

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

72
# Symbol AA change Variation ID SNP ID
1 CRB2 p.Arg633Trp VAR_073269 rs730880377

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

Cellular components related to Ventriculomegaly with Cystic Kidney Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.1 SLCO2A1 LIFR GP9 GP5 GP1BA CD200

Biological processes related to Ventriculomegaly with Cystic Kidney Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.43 GP9 GP5 GP1BA
2 platelet activation GO:0030168 9.33 GP9 GP5 GP1BA
3 hemostasis GO:0007599 9.13 GP9 GP5 GP1BA
4 blood coagulation, intrinsic pathway GO:0007597 8.8 GP9 GP5 GP1BA

Sources for Ventriculomegaly with Cystic Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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