Details of Disease

General Information of Disease (ID: DIS19E4H)

Disease Name Microphthalmia with limb anomalies
Synonyms
anophthalmos-syndactyly; anophthalmia Waardenburg syndrome; anophthalmos with limb anomalies; anophthalmia-syndactyly; ophthalmoacromelic syndrome; OAS; Waardenburg anophthalmia syndrome; microphthalmia with limb anomalies; anophthalmia-syndactyly syndrome; Ophthalmoacromelic syndrome; MLA
Definition
Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DISCPWH9: Autosomal recessive disease
DIS19E4H: Microphthalmia with limb anomalies
Disease Identifiers
MONDO ID
MONDO_0008800
MESH ID
C537769
UMLS CUI
C0599973
OMIM ID
206920
MedGen ID
154638
Orphanet ID
1106
SNOMED CT ID
703403003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PAX3 OTN5PJZV Limited GermlineCausalMutation [1]
HMX1 OT65ZGE0 moderate Genetic Variation [2]
CD207 OTI9RUDN Strong Biomarker [3]
FNBP4 OTV1UBCS Strong Genetic Variation [4]
SMOC1 OTJG2JQY Definitive Autosomal recessive [5]
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References

1 Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am J Med Genet A. 2003 Sep 15;122A(1):42-5. doi: 10.1002/ajmg.a.20260.
2 Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.Ophthalmic Genet. 2018 Apr;39(2):215-220. doi: 10.1080/13816810.2017.1401089. Epub 2017 Nov 15.
3 Characterization of oral immune cells in birch pollen-allergic patients: impact of the oral allergy syndrome and sublingual allergen immunotherapy on antigen-presenting cells.Allergy. 2015 Apr;70(4):408-19. doi: 10.1111/all.12576.
4 Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.Am J Med Genet A. 2013 Jul;161A(7):1543-6. doi: 10.1002/ajmg.a.35983. Epub 2013 May 23.
5 A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. Am J Med Genet A. 2009 Mar;149A(3):336-42. doi: 10.1002/ajmg.a.32656.