Cataract 5, Multiple Types; Ctrct5

Description

Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations in the HSF4 gene have been found to cause multiple types of cataract, which have been described as infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type.The preferred title for this entry was formerly 'Lamellar Cataract,' with 'Cataract, Marner Type; CAM; CTM' an included title.

Clinical Features

Phenotypes and symptoms related to Cataract 5, Multiple Types; Ctrct5

  • Cataract
  • Blindness
  • Congenital cataract
  • Nuclear cataract
  • Pulverulent cataract
  • Lamellar cataract
  • Anterior polar 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 5, Multiple Types; Ctrct5 Is also known as cam, ctm, cataract, lamellar, cataract, marner type.

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.

Cataract 5, Multiple Types; Ctrct5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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.

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, lamellar.

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

HSF4
Specificity
100 %
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 %
Single gene testing HSF4.

By CeGaT GmbH (Germany).

HSF4
Specificity
100 %
Genes
100 %

You can get up to 8 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1 JOUBERT SYNDROME 23; JBTS23 HEMOCHROMATOSIS, TYPE 2B; HFE2B CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 DIAPHANOSPONDYLODYSOSTOSIS SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1