Details of Disease

General Information of Disease (ID: DISXOOPZ)

Disease Name Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Synonyms
FVH2; foveal hypoplasia 2; foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism; foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis; foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis; FHONDA syndrome; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome; foveal hypoplasia type 2
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISENLGC: Foveal hypoplasia
DIS4DFBG: Hereditary optic neuropathy
DIS1BLHT: Inborn disorder of amino acid transport
DISXOOPZ: Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Disease Identifiers
MONDO ID
MONDO_0012216
UMLS CUI
C3807873
OMIM ID
609218
MedGen ID
814203
Orphanet ID
397618

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC38A8 DT0UQDA Strong Genetic Variation [1]
SLC38A8 DT0UQDA Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC38A8 OT861KCR Definitive Autosomal recessive [2]
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References

1 Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. Eur J Hum Genet. 2014 May;22(5):703-6. doi: 10.1038/ejhg.2013.212. Epub 2013 Sep 18.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.