Anterior Segment Dysgenesis 7; Asgd7

Description

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012).Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).

Clinical Features

Top most frequent phenotypes and symptoms related to Anterior Segment Dysgenesis 7; Asgd7

  • Generalized hypotonia
  • Motor delay
  • Cataract
  • Coma
  • Microphthalmia
  • Glaucoma
  • Corneal opacity
  • Microcornea
  • Abnormality of the outer ear
  • Sclerocornea
And another 3 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Anterior Segment Dysgenesis 7; Asgd7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Persistent hyperplastic primary vitreous, AR (sequence analysis of ATOH7 gene).

By CGC Genetics in Portugal.

ATOH7
Specificity
100 %
Genes
50 %
Glaucoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6, OPTN, FOXC1, PITX2, MFRP, CYP1B1, LMX1B, MYOC, COL4A1, LTBP2, SLC4A4, SH3PXD2B, WDR36, COL8A2, ATOH7, OPTC, COL8A1
Specificity
6 %
Genes
50 %
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LRP5, COL2A1, ATP6V0A2, NDP, TSPAN12, FZD4, ISPD, CTNNB1, ZNF408, KIF11, RCBTB1, VCAN, ATOH7, CAPN5
Specificity
8 %
Genes
50 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
2 %
Genes
100 %
Retinal nonattachment nonsyndromic congenital.

By Centogene AG - the Rare Disease Company in Germany.

ATOH7
Specificity
100 %
Genes
50 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

RAX, PAX6, PITX3, ABCB6, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, CRX, STRA6, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, FKTN , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Vitreoretinopathy panel.

By Molecular Vision Laboratory in United States.

LRP5, COL2A1, NDP, KCNJ13, TSPAN12, FZD4, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, ATOH7, CAPN5
Specificity
6 %
Genes
50 %
ATOH7.

By Fulgent Genetics Fulgent Genetics in United States.

ATOH7
Specificity
100 %
Genes
50 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
50 %
Vitreoretinopathy Panel.

By Blueprint Genetics in Finland.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CTNNB1, ZNF408, KIF11, CTC1, COL18A1, VCAN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Cataracts (NGS panel for 41 genes).

By CGC Genetics in Portugal.

EYA1, PAX6, PITX3, WFS1, NHS, CRYAB, AGK, FYCO1, GJA3, GALT, GALK1, SIL1, MAF, FOXE3, CTDP1, FTL, CRYBA4, GJA8, GCNT2, CRYBB1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

VSX1, PAX6, PITX3, FOXC1, PITX2, JAG1, CYP1B1, FGFR2, PTCH1, COL4A1, FOXE3, BMP4, B3GLCT, ASPH, PXDN, SLC38A8, MIR184, HMX1
Specificity
6 %
Genes
50 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

VSX1, PAX6, PITX3, FOXC1, PITX2, JAG1, CYP1B1, FGFR2, PTCH1, COL4A1, FOXE3, BMP4, B3GLCT, ASPH, PXDN, SLC38A8, MIR184, HMX1
Specificity
6 %
Genes
50 %
Congenital Cataracts Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Corneal opacification and other ocular anomalies.

By Centogene AG - the Rare Disease Company in Germany.

PXDN
Specificity
100 %
Genes
50 %
Cataract Panel.

By CeGaT GmbH in Germany.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIL1, MAF, FOXE3, FTL, CRYBA4, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Cataract.

By Asper Biogene Asper Biogene LLC in Estonia.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIX6, SIL1, MAF, CTDP1, GJA1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Invitae Microphthalmia/Anophthalmia Disorders Panel.

By Invitae in United States.

RAX, MFRP, OTX2, SHH, STRA6, BCOR, SOX2, PAX2, GDF6, FOXE3, VSX2, BMP4, PRSS56, ALDH1A3, PXDN
Specificity
7 %
Genes
50 %
PXDN.

By Fulgent Genetics Fulgent Genetics in United States.

PXDN
Specificity
100 %
Genes
50 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, NAA10, GDF6, RARB, VSX2, CRYBA4, BMP4, GDF3, PRSS56, TENM3, ALDH1A3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes.

By Reference Laboratory Genetics in Spain.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Anterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

PAX6, PITX3, FOXC1, PITX2, CYP1B1, FOXE3, PXDN
Specificity
15 %
Genes
50 %

Alternate names

Anterior Segment Dysgenesis 7; Asgd7 Is also known as corneal opacification with other ocular anomalies;copoa, sclerocornea with other ocular anomalies;ccmco.



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 G; XPG MYOTONIA, POTASSIUM-AGGRAVATED OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY JOUBERT SYNDROME 10; JBTS10

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