Cataract 23, Multiple Types; Ctrct23

Description

Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear.

Clinical Features

Phenotypes and symptoms related to Cataract 23, Multiple Types; Ctrct23

  • Cataract
  • Microphthalmia
  • Microcornea
  • Nuclear cataract
  • Lamellar cataract

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

Cataract 23, Multiple Types; Ctrct23 Is also known as cataract 23, multiple types, with or without microcornea.

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.


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Cataract 23, Multiple Types; Ctrct23 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Cataract 23 (sequence analysis of CRYBA4 gene).

By CGC Genetics (Portugal).

CRYBA4
Specificity
100 %
Genes
100 %
Cataracts (NGS panel for 41 genes).

By CGC Genetics (Portugal).

BFSP1, BFSP2, VIM, WFS1, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP4, BMP7, SIX6, SOX2, RAX, VSX2, SMOC1, BCOR, CRYBA4, TENM3, STRA6, FOXE3, ALDH1A3, GDF6, HCCS, MITF, OTX2
Specificity
6 %
Genes
100 %
Congenital Cataracts Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Cataract 23 (CTRCT23) via CRYBA4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CRYBA4
Specificity
100 %
Genes
100 %
Cataract.

By MGZ Medical Genetics Center (Germany).

BFSP1, BFSP2, SIX6, VIM, WFS1, RAB18, FYCO1, JAM3, TBC1D20, CHMP4B, RAB3GAP1, RAB3GAP2, P3H2, VSX2, COL11A1, COL18A1, COL4A1, COL4A2, SLC16A12, CRYAA , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center (Germany).

BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)

View the complete list with 146 more genes
Specificity
1 %
Genes
100 %

We have 9 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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