Details of Disease | DrugMAP

General Information of Disease (ID: DISFFR14)

Disease Name	Isolated optic nerve hypoplasia
Synonyms	optic nerve hypoplasia; optic nerve aplasia, bilateral; isolated optic nerve hypoplasia/aplasia; optic nerve hypoplasia, familial bilateral; optic nerve hypoplasia, bilateral; familial bilateral optic nerve hypoplasia; Optic Nerve Hypoplasia
Disease Hierarchy	DIS4DFBG: Hereditary optic neuropathy DISKX7OJ: PAX6-related ocular dysgenesis DISFFR14: Isolated optic nerve hypoplasia
Disease Identifiers	MONDO ID MONDO_0008136 MESH ID C563492 UMLS CUI C1833797 OMIM ID 165550 MedGen ID 322281 Orphanet ID 137902

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATOH7	OTUBW5PV	Limited	Genetic Variation	[1]
PAX6	OTOC9876	Definitive	Autosomal dominant	[2]
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References

1	Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.Hum Mol Genet. 2020 Jan 1;29(1):132-148. doi: 10.1093/hmg/ddz268.
2	Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet. 2003 Jun;72(6):1565-70. doi: 10.1086/375555. Epub 2003 Apr 29.