MIP gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to MIP gene

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

Other less frequent symptoms and clinical features

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

  • Microcornea
  • Rarely - Less than 30% cases

  • Preauricular pit
  • Glaucoma
  • Laryngomalacia
  • Stridor
  • Posterior polar cataract
  • Severe vision loss
  • Inspiratory stridor

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MIP gene

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


CATARACT 15, MULTIPLE TYPES; CTRCT15


Description

Mutations in the MIP gene have been found to cause multiple types of cataract, which have been described as 'polymorphic,' progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical.

Most common symptoms of CATARACT 15, MULTIPLE TYPES; CTRCT15

  • Cataract
  • Congenital cataract
  • Nuclear cataract
  • Cortical cataract
  • Lamellar cataract


More info about CATARACT 15, MULTIPLE TYPES; CTRCT15

SOURCES: OMIM

CATARACT 25; CTRCT25


Alternate names

CATARACT 25; CTRCT25 Is also known as ccsso, cataract, central pouch-like, with sutural opacities, cataract, central saccular, with sutural opacities

Most common symptoms of CATARACT 25; CTRCT25

  • Cataract
  • Congenital cataract


More info about CATARACT 25; CTRCT25

SOURCES: ORPHANET OMIM MESH

CATARACT 21, MULTIPLE TYPES; CTRCT21


Alternate names

CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract, congenital, cerulean type, 4, cataract, pulverulent, juvenile-onset, cca4, cataract 21, multiple types, with or without microcornea

Description

Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'

Most common symptoms of CATARACT 21, MULTIPLE TYPES; CTRCT21

  • Cataract
  • Delayed speech and language development
  • Atrial septal defect
  • Microphthalmia
  • Autism


More info about CATARACT 21, MULTIPLE TYPES; CTRCT21

SOURCES: 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 MIP 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

Autosomal Dominant Congenital Cataracts via MIP Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MIP gene.

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

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

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 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

MIP - Abetalipoproteinemia Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the MIP 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

Cataract, polymorphis and lamellar Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MIP gene.

More info about this panel

Cataract, polymorphis and lamellar Panel

Slovakia.

By MedGene

This panel specifically test the MIP gene.

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

MIP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MIP 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 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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