ALDH1A3 gene related symptoms and diseases

All the information presented here about the ALDH1A3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ALDH1A3 gene

Symptoms // Phenotype % Cases
Microphthalmia Very Common - Between 80% and 100% cases
Coloboma Very Common - Between 80% and 100% cases
Anophthalmia Very Common - Between 80% and 100% cases
Glaucoma Uncommon - Between 30% and 50% cases
Hypermetropia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ALDH1A3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • High hypermetropia
  • Sclerocornea
  • Corneal neovascularization
  • Scleral staphyloma
  • Anterior staphyloma
  • Atrial septal defect
  • Autism
  • Pulmonic stenosis

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ALDH1A3 gene

Here you will find a list of rare diseases related to the ALDH1A3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROPHTHALMIA, ISOLATED 1; MCOP1


Alternate names

MICROPHTHALMIA, ISOLATED 1; MCOP1 Is also known as anophthalmia, clinical, isolated, microphthalmos, autosomal recessive, mcop

Description

Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). Genetic Heterogeneity of Isolated MicrophthalmiaMCOP1 has been mapped to chromosome 14q32. MCOP2 (OMIM ) is caused by mutation in the CHX10 gene (OMIM ) on chromosome 14q24. MCOP3 (OMIM ) is caused by mutation in the RAX gene (OMIM ) on chromosome 18q21.3. MCOP4 (OMIM ) is caused by mutation in the GDF6 gene (OMIM ) on chromosome 8q22.1. MCOP5 (OMIM ) is caused by mutation in the MFRP gene (OMIM ) on chromosome 11q23. MCOP6 (OMIM ) is caused by mutation in the PRSS56 gene (OMIM ) on chromosome 2q37.1. MCOP7 (OMIM ) is caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13.1. MCOP8 (OMIM ) is caused by mutation in the ALDH1A3 gene (OMIM ) on chromosome 15q26.

Most common symptoms of MICROPHTHALMIA, ISOLATED 1; MCOP1

  • Microphthalmia
  • Glaucoma
  • Coloboma
  • Hypermetropia
  • Anophthalmia


More info about MICROPHTHALMIA, ISOLATED 1; MCOP1

SOURCES: MESH OMIM ORPHANET

MICROPHTHALMIA, ISOLATED 8; MCOP8


Most common symptoms of MICROPHTHALMIA, ISOLATED 8; MCOP8

  • Atrial septal defect
  • Microphthalmia
  • Autism
  • Coloboma
  • Pulmonic stenosis


More info about MICROPHTHALMIA, ISOLATED 8; MCOP8

SOURCES: OMIM


Potential gene panels for ALDH1A3 gene

Anophthalmia/microphthalmia Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2

More info about this panel

Microphthalmia isolated 8 (sequence analysis of ALDH1A3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALDH1A3 gene.

More info about this panel

Microphthalmia (NGS panel for 26 genes) Panel

Portugal.

By CGC Genetics Microphthalmia (NGS panel for 26 genes) that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1

More info about this panel

Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection that also includes the following genes: BMP4 BMP7 SIX6 SOX2 RAX VSX2 SMOC1 BCOR CRYBA4 TENM3

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

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

Germany.

By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1

More info about this panel

Microphthalmia syndromic type 8 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ALDH1A3 gene.

More info about this panel

Microphthalmia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Microphthalmia panel that also includes the following genes: BMP4 SIX6 SOX2 RAX VSX2 BCOR TENM3 STRA6 ALDH1A3 HCCS

More info about this panel

Microphthalmy Panel Panel

Germany.

By CeGaT GmbH Microphthalmy Panel that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1

More info about this panel

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: BMP4 SIX6 SOX2 VAX1 VSX1 MFRP RAX VSX2 B3GLCT SMOC1

More info about this panel

Developmental Eye Disease panel Panel

United States.

By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1

More info about this panel

Invitae Microphthalmia/Anophthalmia Disorders Panel Panel

United States.

By Invitae Invitae Microphthalmia/Anophthalmia Disorders Panel that also includes the following genes: BMP4 SHH SOX2 PXDN MFRP RAX VSX2 BCOR STRA6 FOXE3

More info about this panel

ALDH1A3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALDH1A3 gene.

More info about this panel

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

Finland.

By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN

More info about this panel

ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL that also includes the following genes: SALL1 SALL2 BMP4 SHH SIX6 SOX2 PXDN MFRP RAX NAA10

More info about this panel


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