Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

Description

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

Clinical Features

Top most frequent phenotypes and symptoms related to Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment
  • Hyperreflexia
  • Dysarthria
  • Edema
  • Behavioral abnormality
  • Headache

And another 43 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

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena, cerebroretinal vasculopathy, hereditary, crv, retinal vasculopathy and cerebral leukoencephalopathy, rvcl, rvcl-s.

Researches and researchers

Doctors, researchs, and experts related to Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations extracted from public data.

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations Experts map



Current Researchs and researchers

  • PARIS — Pr Yanick CROW

    Coordinator of expert centre - Clinical expert - Investigator of research project - Sponsor of orphan designation - Coordinator of research network

    • Institution/s:
      — Manchester Regional Genetics Service, Genetic Medicine, 6th Floor, St Mary's Hospital
      — Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
      — Institut Imagine - INSERM U1163, IMAGINE - Institut des Maladies Génétiques
    • Research area/topic::

      NIMBL: Nuclease Immune Mediated Brain and Lupus-like conditions (NIMBL): natural history, pathophysiology, diagnostic and therapeutic modalities with application to other disorders of autoimmunity (TERMINATED)


  • TÜBINGEN — Pr Bernd WISSINGER

    Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Forschungsinstitut für Augenheilkunde, Department für Augenheilkunde Tübingen
    • Research area/topic::

      RETNET: European Retinal Research Training Network


  • MANCHESTER — Pr Yanick CROW

    Coordinator of expert centre - Clinical expert - Investigator of research project - Sponsor of orphan designation - Coordinator of research network

    • Institution/s:
      — Manchester Regional Genetics Service, Genetic Medicine, 6th Floor, St Mary's Hospital
      — Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
      — Institut Imagine - INSERM U1163, IMAGINE - Institut des Maladies Génétiques
    • Research area/topic::

      NIMBL: Nuclease Immune Mediated Brain and Lupus-like conditions (NIMBL): natural history, pathophysiology, diagnostic and therapeutic modalities with application to other disorders of autoimmunity (TERMINATED)



Mendelian

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Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

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Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SIK1, SPTAN1, CDKL5, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, CACNA2D1 , (...)

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Hereditary Spastic Paraplegia Panel.

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RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

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Aicardi-Goutieres Syndrome 1 - TREX1 Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

TREX1
Specificity
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Aicardi-Goutieres Syndrome 1 - TREX1 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

TREX1
Specificity
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Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

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Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

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Dystonia Exome Panel.

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BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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