Cataract 11, Multiple Types; Ctrct11

Description

Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar.The preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.'

Clinical Features

Phenotypes and symptoms related to Cataract 11, Multiple Types; Ctrct11

  • Intellectual disability
  • Cataract
  • Blindness
  • Hypertonia
  • Microphthalmia
  • Hyporeflexia
  • Chorea
  • Posterior polar cataract
  • Polar cataract

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Cataract 11, Multiple Types; Ctrct11 Is also known as cataract, posterior polar, 4, cpp4, ctpp4.

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 11, Multiple Types; Ctrct11 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 %
Optic Atrophy and Early Glaucoma Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Axenfeld-Rieger syndrome.

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

B3GLCT, CYP1B1, FOXC1, FOXE3, PAX6, PITX2, PITX3
Specificity
15 %
Genes
100 %
Anterior segment defects.

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

PORCN, B3GLCT, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, KERA, LAMB2, PAX2, PAX6, PITX2, PITX3
Specificity
8 %
Genes
100 %
PITX3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

PITX3
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 %
Anterior segment mesenchymal dysgenesis (sequence analysis of PITX3 gene).

By CGC Genetics (Portugal).

PITX3
Specificity
100 %
Genes
100 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics (Portugal).

BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH 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 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8

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