Familial Drusen

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Drusen

  • Neoplasm
  • Visual impairment
  • Blindness
  • Visual loss
  • Retinal degeneration
  • Retinal dystrophy
  • Macular degeneration
  • Macular dystrophy
  • Drusen
  • Vitreous hemorrhage

And another 3 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.
No data available about the known clinical features onset.

Alternative names

Familial Drusen Is also known as doyne honeycomb degeneration of retina, malattia leventinese, dominant drusen, dhd, doyne honeycomb retinal dystrophy, dominant radial drusen, dhrd.

Researches and researchers

Doctors, researchs, and experts related to Familial Drusen extracted from public data.

Familial Drusen Experts map



Current Researchs and researchers

  • BIRMINGHAM — Pr Eamonn R MAHER

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
      — Birmingham Women's NHS Foundation Trust
      — Addenbrooke's Hospital
    • Research area/topic::

      National Autozygosity Mapping Resource


  • BIRMINGHAM — Ms Shanaz PASHA

    Coordinator of research network

    • Institution/s:
      — Birmingham Women's NHS Foundation Trust
    • Research area/topic::

      National Autozygosity Mapping Resource


  • CAMBRIDGE — Pr Eamonn R MAHER

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
      — Birmingham Women's NHS Foundation Trust
      — Addenbrooke's Hospital
    • Research area/topic::

      National Autozygosity Mapping Resource



Mendelian

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Familial Drusen Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CFH
Specificity
100 %
Genes
34 %
Test for CFH-Related Atypical Hemolytic-Uremic Syndrome.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CFH
Specificity
100 %
Genes
34 %
AHUS/MPGN panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CFB, THBD, C3, APLN, CFHR5, CFH, CFI, CD46
Specificity
25 %
Genes
67 %
Genetic Renal Panel.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

CFB, THBD, C3, ADAMTS13, CFHR3, MMACHC, CFHR5, DGKE, CFH, CFHR1, CFI, CD46, PLG
Specificity
16 %
Genes
67 %
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CFB, THBD, C3, CFHR3, CFHR5, DGKE, CFH, CFHR1, CFI, CD46
Specificity
20 %
Genes
67 %
CFH Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CFH
Specificity
100 %
Genes
34 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
5 %
Genes
67 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
5 %
Genes
67 %

We have 101 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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