Cataract 14, Multiple Types; Ctrct14

Description

Mutations in the GJA3 gene have been found to cause multiple types of cataract, which have been described as zonular pulverulent, posterior polar, nuclear coralliform, embryonal nuclear, and Coppock-like.The preferred title/symbol for this entry was formerly 'Cataract, Zonular Pulverulent 3; CZP3.'

Clinical Features

Phenotypes and symptoms related to Cataract 14, Multiple Types; Ctrct14

  • Cataract
  • Reduced visual acuity
  • Congenital cataract
  • Nuclear cataract
  • Zonular 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 14, Multiple Types; Ctrct14 Is also known as cataract, zonular pulverulent 3, cae3, czp3.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Cataract 14, Multiple Types; Ctrct14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
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 %
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 Type 14 via GJA3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GJA3
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 %
Cataract panel.

By Centogene AG - the Rare Disease Company (Germany).

BFSP1, BFSP2, VIM, WFS1, UNC45B, FYCO1, CHMP4B, P3H2, VSX2, BCOR, LEMD2, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Cataract Panel.

By CeGaT GmbH (Germany).

BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, BCOR, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %

We have 6 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42 HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2 METACHONDROMATOSIS; METCDS EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA DIAMOND-BLACKFAN ANEMIA 12; DBA12 HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more