ASPH gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to ASPH gene

Symptoms // Phenotype % Cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Downslanted palpebral fissures Very Common - Between 80% and 100% cases
Microphthalmia Very Common - Between 80% and 100% cases
Visual loss Very Common - Between 80% and 100% cases
Retrognathia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ASPH gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Wide nose
  • Prominent nose
  • Dental malocclusion
  • Convex nasal ridge
  • Ectopia lentis
  • Iris atrophy
  • Large beaked nose
  • Posterior synechiae of the anterior chamber
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Rare diseases associated to ASPH gene

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


FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME


Alternate names

FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME Is also known as fdlab syndrome, ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism, traboulsi syndrome, facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Description

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

Most common symptoms of FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Microphthalmia
  • Visual loss
  • Retrognathia


More info about FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

SOURCES: ORPHANET MESH OMIM


Potential gene panels for ASPH gene

Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN CACNA1C

More info about this panel

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1

More info about this panel

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1

More info about this panel

Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection that also includes the following genes: B3GLCT COL4A1 CYP1B1 SH3PXD2B FOXC1 FOXE3 ASPH PAX6 PITX2

More info about this panel

Ectopia Lentis Panel

Germany.

By MGZ Medical Genetics Center Ectopia Lentis that also includes the following genes: ADAMTS10 CBS ADAMTS17 ADAMTSL4 COL11A1 COL18A1 VCAN FBN1 ASPH

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

Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome Panel

Germany.

By MGZ Medical Genetics Center Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome that also includes the following genes: B3GLCT COL4A1 COL4A2 CYP1B1 MIR184 SLC38A8 EYA1 FOXC1 FOXE3 LTBP2

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

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

ASPH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ASPH gene.

More info about this panel

Ectopia Lentis Panel Panel

Finland.

By Blueprint Genetics Ectopia Lentis Panel that also includes the following genes: SUOX ADAMTS10 CBS ADAMTS17 AASS PORCN P3H2 ADAMTSL4 VSX2 BCOR

More info about this panel


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