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Anophthalmia-microphthalmia syndrome

MedGen UID:
1826077
Concept ID:
C5680330
Disease or Syndrome
Synonyms: Anophthalmia - microphthalmia; Anophthalmia/Microphthalmia; PAX6-Related 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.
 
Genes (locations): BMP4 (14q22.2); CRYBA4 (22q12.1); DACH1 (13q21.33); GATD3 (21q22.3); HESX1 (3p14.3); IKBKG (Xq28); NHS (Xp22.2-22.13); OTX2 (14q22.3); PAX2 (10q24.31); PAX6 (11p13); PITX2 (4q25); PITX3 (10q24.32); PORCN (Xp11.23); RAX (18q21.32); SIX3 (2p21); TFAP2A (6p24.3); VAX1 (10q25.3)
Related genes: VSX2, BCOR, SOX2, SIX6
 
Orphanet: ORPHA98555

Professional guidelines

PubMed

Ragge NK, Subak-Sharpe ID, Collin JR
Eye (Lond) 2007 Oct;21(10):1290-300. doi: 10.1038/sj.eye.6702858. PMID: 17914432

Recent clinical studies

Diagnosis

Okoye O, Capasso J, Kopinsky SM, Amlie-Wolf L, Levin AV, Schneider A
Am J Med Genet A 2023 Aug;191(8):2198-2203. Epub 2023 May 10 doi: 10.1002/ajmg.a.63239. PMID: 37163579
Zenteno JC, Perez-Cano HJ, Aguinaga M
Am J Med Genet A 2006 Sep 15;140(18):1899-903. doi: 10.1002/ajmg.a.31384. PMID: 16892407

Clinical prediction guides

Zenteno JC, Perez-Cano HJ, Aguinaga M
Am J Med Genet A 2006 Sep 15;140(18):1899-903. doi: 10.1002/ajmg.a.31384. PMID: 16892407

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