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Isolated anophthalmia-microphthalmia syndrome

MedGen UID:
1826144
Concept ID:
C5679828
Disease or Syndrome
Synonyms: clinical anophthalmia; isolated anophthalmia - microphthalmia; isolated anophthalmia-microphthalmia syndrome; Isolated microphthalmia-anophthalmia-coloboma; isolated pure microphthalmia; MAC spectrum; microphthalmia-anophthalmia-coloboma spectrum; nonsyndromic anophthalmia-microphthalmia syndrome; primitive anophthalmia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0016764
Orphanet: ORPHA2542

Definition

A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Isolated anophthalmia-microphthalmia syndrome

Recent clinical studies

Etiology

Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen JE, Conroy J, Regan R, Kenny E, Cormican P, Morris DW, Tormey P, Chróinín MN, Kennedy BN, Lynch S, Green A, Ennis S
Hum Mutat 2011 Dec;32(12):1417-26. Epub 2011 Sep 29 doi: 10.1002/humu.21590. PMID: 21901792Free PMC Article
Reis LM, Tyler RC, Schneider A, Bardakjian T, Semina EV
Mol Vis 2010 Apr 28;16:768-73. PMID: 20454695Free PMC Article

Diagnosis

Holt R, Goudie D, Verde AD, Gardham A, Ramond F, Putoux A, Sarkar A, Clowes V, Clayton-Smith J, Banka S, Cortazar Galarza L, Thuret G, Ubeda Erviti M, Zurutuza Ibarguren A, Sáez Villaverde R, Tamayo Durán A, Ayuso C, Bax DA, Plaisancie J, Corton M, Chassaing N, Calvas P, Ragge NK
Ophthalmic Genet 2022 Dec;43(6):809-816. doi: 10.1080/13816810.2022.2144905. PMID: 36695497
Sun H, Yu S, Zhou X, Han L, Zhang H, He Y
Mol Genet Genomic Med 2020 Sep;8(9):e1377. Epub 2020 Jun 29 doi: 10.1002/mgg3.1377. PMID: 32597569Free PMC Article
Plaisancié J, Ceroni F, Holt R, Zazo Seco C, Calvas P, Chassaing N, Ragge NK
Hum Genet 2019 Sep;138(8-9):799-830. Epub 2019 Feb 14 doi: 10.1007/s00439-019-01977-y. PMID: 30762128
Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P
Clin Genet 2014 Oct;86(4):326-34. Epub 2013 Oct 7 doi: 10.1111/cge.12275. PMID: 24033328
Verma AS, Fitzpatrick DR
Orphanet J Rare Dis 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390Free PMC Article

Prognosis

Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV
Mol Vis 2011;17:2527-32. Epub 2011 Sep 28 PMID: 21976963Free PMC Article

Clinical prediction guides

Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV
Clin Genet 2013 Nov;84(5):473-81. Epub 2013 Jun 17 doi: 10.1111/cge.12202. PMID: 23701296Free PMC Article
Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV
Mol Vis 2011;17:2527-32. Epub 2011 Sep 28 PMID: 21976963Free PMC Article
White T, Lu T, Metlapally R, Katowitz J, Kherani F, Wang TY, Tran-Viet KN, Young TL
Mol Vis 2008;14:2458-65. Epub 2008 Dec 26 PMID: 19112531Free PMC Article
Verma AS, Fitzpatrick DR
Orphanet J Rare Dis 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390Free PMC Article
Martinez-Frías ML, Frías JL, Salvador J
Am J Med Genet 1990 Jan;35(1):121-5. doi: 10.1002/ajmg.1320350123. PMID: 2301461

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