Proliferative Vasculopathy And Hydranencephaly-hydrocephaly Syndrome; Pvhh

Description

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare autosomal recessive prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010).

Clinical Features

Top most frequent phenotypes and symptoms related to Proliferative Vasculopathy And Hydranencephaly-hydrocephaly Syndrome; Pvhh

  • Pica
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Flexion contracture
  • Intrauterine growth retardation
  • Macrocephaly
  • Skeletal muscle atrophy
  • Ventriculomegaly
  • Hydrocephalus
And another 23 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Proliferative Vasculopathy And Hydranencephaly-hydrocephaly Syndrome; Pvhh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Hydrocephalus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PTEN, L1CAM, POMT1, AP1S2, FLVCR2, DNAI1, P4HB, ZIC3, PIK3R2, AKT3, CCND2, CRB2, CCDC88C, MPDZ, WDR81, EML1, HDAC6
Specificity
6 %
Genes
100 %
Hydranencephaly, Fowler type.

By Centogene AG - the Rare Disease Company in Germany.

FLVCR2
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Single gene testing FLVCR2.

By CeGaT GmbH in Germany.

FLVCR2
Specificity
100 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
FLVCR2.

By Fulgent Genetics Fulgent Genetics in United States.

FLVCR2
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Neuronal Migration Disorder Panel.

By Blueprint Genetics in Finland.

TUBB3, ATP6V0A2, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, PHGDH, L1CAM, DYNC1H1, POMT1, ISPD, LAMA2, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %

Alternate names

Proliferative Vasculopathy And Hydranencephaly-hydrocephaly Syndrome; Pvhh Is also known as hydranencephaly, fowler type, hydrocephaly/hydranencephaly due to cerebral vasculopathy, encephaloclastic proliferative vasculopathy;epv;cerebral proliferative glomeruloid vasculopathy; encephaloclastic proliferative vasculopathy; hydrocephaly/hydranencephaly due to cerebral vasculopathy; proliferative vasculopathy and hydranencephaly/hydrocephaly.



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