Ventriculomegaly-cystic Kidney Disease

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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.

Genes related to Ventriculomegaly-cystic Kidney Disease

CRB2

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Clinical Features

Top most frequent phenotypes and symptoms related to Ventriculomegaly-cystic Kidney Disease

Seizures
Ventricular septal defect
Ventriculomegaly
Hydrocephalus
Renal insufficiency
Dilatation
Polydactyly
Polyhydramnios
Abnormality of the kidney
Postaxial polydactyly

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Ventriculomegaly-cystic Kidney Disease Is also known as congenital nephrosis-cerebral ventriculomegaly syndrome, vmckd.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Ventriculomegaly-cystic Kidney Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Renal Cystic Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...) View the complete list with 55 more genes Panel complete gene list SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7, NPHP4, KIF14, KIAA0586, TTC8, INPP5E, AHI1, B9D1, BMPER, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, BBS10, BBS12, ANKS6, TMEM138, WDPCP, XPNPEP3, TMEM107, TMEM67, GLIS3, B9D2, IQCB1, CEP290, KIAA0556, IFT140, RPGRIP1L, CEP164, CC2D2A, GLIS2, BBS9, IFT172, KIF7, TMEM231, JAG1, MKKS, MKS1, MUC1, NOTCH2, NPHP1, NPHP3, PDE6D, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5, REN Specificity 2 % Genes 100 %
Focal glomerulonephrosis (NGS panel for 11 genes). By CGC Genetics (Portugal). TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, CRB2, INF2, MYO1E, NPHS1, PAX2 Specificity 10 % Genes 100 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3 , (...) View the complete list with 29 more genes Panel complete gene list SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, INF2, TPRKB, COQ2, ARHGAP24, CUBN, TTC21B, WDR73, LAGE3, KANK4, DGKE, NUP93, KANK2, NUP107, EMP2, FAT1, ITGA3, ITGB4, LAMA5, LAMB2, LMX1B, ARHGDIA, MYO1E, NPHS1, PAX2, PTPRO Specificity 3 % Genes 100 %
Hydrocephalus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ZIC3, HDAC6, CCND2, CRB2, CCDC88C, FLVCR2, WDR81, DNAI1, EML1, AKT3, AP1S2, L1CAM, MPDZ, P4HB, PIK3R2, POMT1, PTEN Specificity 6 % Genes 100 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SDCCAG8, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, DNAJB11, ZNF423, DICER1, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1 , (...) View the complete list with 21 more genes Panel complete gene list SDCCAG8, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, DNAJB11, ZNF423, DICER1, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1, DZIP1L, ANKS6, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, MAPKBP1, IFT172, GANAB, JAG1, LRP5, MUC1, NOTCH2, NPHP1, NPHP3, PAX2, PKD1, PKD2, PKHD1 Specificity 3 % Genes 100 %
Nephrotic syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...) View the complete list with 22 more genes Panel complete gene list SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, INF2, COQ2, ARHGAP24, CUBN, TTC21B, WDR73, DGKE, NUP93, KANK2, NUP107, EMP2, FN1, ITGA3, ITGB4, LAMB2, LMX1B, ARHGDIA, MEFV, MYO1E, NPHS1, PAX2, PTPRO Specificity 3 % Genes 100 %
Nephrotic syndrome and related disorders NGS panel. By Connective Tissue Gene Tests (United States). SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...) View the complete list with 22 more genes Panel complete gene list SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, INF2, COQ2, ARHGAP24, CUBN, TTC21B, WDR73, DGKE, NUP93, KANK2, NUP107, EMP2, FN1, ITGA3, ITGB4, LAMB2, LMX1B, ARHGDIA, MEFV, MYO1E, NPHS1, PAX2, PTPRO Specificity 3 % Genes 100 %
Nephrotic syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...) View the complete list with 22 more genes Panel complete gene list SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, INF2, COQ2, ARHGAP24, CUBN, TTC21B, WDR73, DGKE, NUP93, KANK2, NUP107, EMP2, FN1, ITGA3, ITGB4, LAMB2, LMX1B, ARHGDIA, MEFV, MYO1E, NPHS1, PAX2, PTPRO Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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