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Anterior segment mesenchymal dysgenesis(ASMD)

MedGen UID:
350766
Concept ID:
C1862839
Disease or Syndrome
Synonyms: Anterior segment ocular dysgenesis; ASMD; FOX3-Related Anterior Segment Mesenchymal Dysgenesis; FOXE3-Related Anterior Segment Mesenchymal Dysgenesis
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Genes: PITX3; FOXE3
Cytogenetic locations: 10q24.32; 1p33
OMIM®: 107250
Orphanet: ORPHA88632

Clinical features

Anterior segment dysgenesis
MedGen UID:
383825
Concept ID:
C1856042
Finding
Opacification of the corneal stroma
MedGen UID:
347281
Concept ID:
C1856661
Finding
Posterior polar cataract
MedGen UID:
350522
Concept ID:
C1861837
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGAnterior segment mesenchymal dysgenesis

Recent clinical studies

Etiology

Corso-Díaz X, Borrie AE, Bonaguro R, Schuetz JM, Rosenberg T, Jensen H, Brooks BP, Macdonald IM, Pasutto F, Walter MA, Grønskov K, Brooks-Wilson A, Simpson EM
Mol Vis 2012;18:2770-82. Epub 2012 Nov 22 PMID: 23213277Free PMC Article
Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV
Eur J Hum Genet 2012 Dec;20(12):1224-33. Epub 2012 May 9 doi: 10.1038/ejhg.2012.80. [Epub ahead of print] PMID: 22569110Free PMC Article
Summers KM, Withers SJ, Gole GA, Piras S, Taylor PJ
Mol Vis 2008;14:2010-5. Epub 2008 Nov 5 PMID: 18989383Free PMC Article
Ferrell RE, Hittner HM, Kretzer FL, Antoszyk JH
Am J Hum Genet 1982 Mar;34(2):245-9. PMID: 6978612Free PMC Article
Hittner HM, Kretzer FL, Antoszyk JH, Ferrell RE, Mehta RS
Am J Ophthalmol 1982 Jan;93(1):57-70. PMID: 6801987

Diagnosis

Corso-Díaz X, Borrie AE, Bonaguro R, Schuetz JM, Rosenberg T, Jensen H, Brooks BP, Macdonald IM, Pasutto F, Walter MA, Grønskov K, Brooks-Wilson A, Simpson EM
Mol Vis 2012;18:2770-82. Epub 2012 Nov 22 PMID: 23213277Free PMC Article
Acharya M, Sharp MW, Mirzayans F, Footz T, Huang L, Birdi C, Walter MA
Mol Vis 2012;18:2182-9. Epub 2012 Aug 7 PMID: 22919265Free PMC Article
Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV
Eur J Hum Genet 2012 Dec;20(12):1224-33. Epub 2012 May 9 doi: 10.1038/ejhg.2012.80. [Epub ahead of print] PMID: 22569110Free PMC Article
Summers KM, Withers SJ, Gole GA, Piras S, Taylor PJ
Mol Vis 2008;14:2010-5. Epub 2008 Nov 5 PMID: 18989383Free PMC Article
Rao SK, Fan DS, Pang CP, Li WW, Ng JS, Good WV, Lam DS
Cornea 2002 Jan;21(1):126-30. PMID: 11805525

Therapy

Corso-Díaz X, Borrie AE, Bonaguro R, Schuetz JM, Rosenberg T, Jensen H, Brooks BP, Macdonald IM, Pasutto F, Walter MA, Grønskov K, Brooks-Wilson A, Simpson EM
Mol Vis 2012;18:2770-82. Epub 2012 Nov 22 PMID: 23213277Free PMC Article

Prognosis

Doucette L, Green J, Fernandez B, Johnson GJ, Parfrey P, Young TL
Eur J Hum Genet 2011 Mar;19(3):293-9. Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.210. [Epub ahead of print] PMID: 21150893Free PMC Article
Rao SK, Fan DS, Pang CP, Li WW, Ng JS, Good WV, Lam DS
Cornea 2002 Jan;21(1):126-30. PMID: 11805525

Clinical prediction guides

Dikmetas O, Simsek Kiper PO, Mocan MC, Utine EG, Boduroglu K, Irkec M
J AAPOS 2012 Oct;16(5):473-5. doi: 10.1016/j.jaapos.2012.05.008. PMID: 23084388
Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV
Eur J Hum Genet 2012 Dec;20(12):1224-33. Epub 2012 May 9 doi: 10.1038/ejhg.2012.80. [Epub ahead of print] PMID: 22569110Free PMC Article
Doucette L, Green J, Fernandez B, Johnson GJ, Parfrey P, Young TL
Eur J Hum Genet 2011 Mar;19(3):293-9. Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.210. [Epub ahead of print] PMID: 21150893Free PMC Article
Vanathi M, Sen S, Panda A, Dada T, Behera G, Khokhar S
Cornea 2007 Jan;26(1):111-3. doi: 10.1097/01.ico.0000243952.84224.fe. PMID: 17198027
Heathcote JG, Sholdice J, Walton JC, Willis NR, Sergovich FR
Can J Ophthalmol 1991 Feb;26(1):35-43. PMID: 2013025

Recent systematic reviews

Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV
Eur J Hum Genet 2012 Dec;20(12):1224-33. Epub 2012 May 9 doi: 10.1038/ejhg.2012.80. [Epub ahead of print] PMID: 22569110Free PMC Article

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