Agel Amyloidosis

Description

AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

Clinical Features

Top most frequent phenotypes and symptoms related to Agel Amyloidosis

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency
  • Glaucoma
  • Proteinuria
  • Paralysis
  • Corneal opacity
  • Poor speech

And another 19 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

Agel Amyloidosis Is also known as amyloid cranial neuropathy with lattice corneal dystrophy, amyloidosis, meretoja type, amyloidosis due to mutant gelsolin, amyloidosis v, familial amyloidosis, finnish type, gelsolin amyloidosis, familial amyloid polyneuropathy type iv, hereditary amyloidosis, f.

Researches and researchers

Doctors, researchs, and experts related to Agel Amyloidosis extracted from public data.

Agel Amyloidosis Experts map



Current Researchs and researchers

  • HALLE (SAALE) — Dr Claudia GRÜNAUER-KLOEVEKORN

    Investigator of research project

    • Institution/s:
      — Universitätsklinikum Halle (Saale)
    • Research area/topic::

      Molecular diagnosis, genotype-phenotype correlation and therapy optimization of hereditary corneal dystrophies


  • MÜNSTER — Pr Hartmut SCHMIDT

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of clinical trial - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Universitätsklinikum Münster
    • Research area/topic::

      Development of liver directed gene therapeutic strategies in patients with familial amyloid polyneuropathy



Mendelian

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Agel Amyloidosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
GSN.

By Institute for Human Genetics University Clinic Freiburg (Germany).

GSN
Specificity
100 %
Genes
100 %
Amyloidosis, finnish type (sequence analysis of GSN gene).

By CGC Genetics (Portugal).

GSN
Specificity
100 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics (Portugal).

TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET
Specificity
6 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics (Portugal).

TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET
Specificity
6 %
Genes
100 %
Gelsolin gene analysis.

By Laboratory of Genetics BioTe21 Adam Master (Poland).

GSN
Specificity
100 %
Genes
100 %
Familial Amyloidosis (Finnish Type) via GSN Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GSN
Specificity
100 %
Genes
100 %
Corneal Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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