HSF4 gene related symptoms and diseases

All the information presented here about the HSF4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HSF4 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Congenital cataract Very Common - Between 80% and 100% cases
Nuclear cataract Very Common - Between 80% and 100% cases
Anterior polar cataract Very Common - Between 80% and 100% cases
Laryngomalacia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HSF4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Sutural cataract
  • Lenticonus
  • Cortical cataract
  • Polar cataract
  • Posterior polar cataract
  • Inspiratory stridor
  • Severe vision loss
  • Preauricular pit

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HSF4 gene

Here you will find a list of rare diseases related to the HSF4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CATARACT 5, MULTIPLE TYPES; CTRCT5


Alternate names

CATARACT 5, MULTIPLE TYPES; CTRCT5 Is also known as cam, ctm, cataract, lamellar, cataract, marner type

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.

Most common symptoms of CATARACT 5, MULTIPLE TYPES; CTRCT5

  • Cataract
  • Blindness
  • Congenital cataract
  • Nuclear cataract
  • Pulverulent cataract


More info about CATARACT 5, MULTIPLE TYPES; CTRCT5

SOURCES: MESH ORPHANET OMIM

TOTAL EARLY-ONSET CATARACT


Alternate names

TOTAL EARLY-ONSET CATARACT Is also known as cataract, congenital, x-linked, cataract, congenital total, with posterior sutural opacities in heterozygotes, cxn, cct, cataract 40 with or without microcornea

Most common symptoms of TOTAL EARLY-ONSET CATARACT

  • Cataract
  • Visual impairment
  • Ventricular septal defect
  • Microphthalmia
  • Patent ductus arteriosus


More info about TOTAL EARLY-ONSET CATARACT

SOURCES: OMIM ORPHANET


Potential gene panels for HSF4 gene

Cataracts (NGS panel for 41 genes) Panel

Portugal.

By CGC Genetics Cataracts (NGS panel for 41 genes) that also includes the following genes: BFSP1 BFSP2 VIM WFS1 FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12

More info about this panel

Congenital Cataracts Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Cataracts Sequencing Panel with CNV Detection that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

More info about this panel

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Cataract panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cataract panel that also includes the following genes: BFSP1 BFSP2 VIM WFS1 UNC45B FYCO1 CHMP4B P3H2 VSX2 BCOR

More info about this panel

Cataract, lamellar Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HSF4 gene.

More info about this panel

Cataract Panel Panel

Germany.

By CeGaT GmbH Cataract Panel that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 BCOR AGK SLC16A12

More info about this panel

Single gene testing HSF4 Panel

Germany.

By CeGaT GmbH

This panel specifically test the HSF4 gene.

More info about this panel

Cataract Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM UNC45B FYCO1 PXDN CHMP4B P3H2 VSX2

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Invitae Congenital Cataracts Panel Panel

United States.

By Invitae Invitae Congenital Cataracts Panel that also includes the following genes: BFSP1 BFSP2 FYCO1 VSX2 BCOR AGK CRYAA CRYAB CRYBA1 CRYBB1

More info about this panel

HSF4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HSF4 gene.

More info about this panel

Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

More info about this panel

Congenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Congenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel that also includes the following genes: FYCO1 AGK CRYAA CRYAB CRYBB1 CRYBB3 SIL1 CTDP1 TDRD7 GALK1

More info about this panel

HSF4 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the HSF4 gene.

More info about this panel

Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

More info about this panel


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