Details of Disease | DrugMAP

General Information of Disease (ID: DISABPH6)

Disease Name	Persistent hyperplastic primary vitreous
Synonyms	persistent fetal vasculature syndrome; PFVS; congenital retinal detachment; non-syndromic congenital retinal non-attachment; persistent foetal vasculature syndrome; PHPV; ncRNA disease
Definition	A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)
Disease Hierarchy	DISMZP06: Vitreous disorder DIST86NS: Congenital vitreoretinal dysplasia DISABPH6: Persistent hyperplastic primary vitreous
Disease Identifiers	MONDO ID MONDO_0019631 MESH ID D054514 UMLS CUI C0266568 MedGen ID 120583 HPO ID HP:0007968 Orphanet ID 91495 SNOMED CT ID 314270008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FOXQ1	TTEJZOL	Definitive	Biomarker	[1]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATOH7	OTUBW5PV	Supportive	Autosomal dominant	[2]
FZD4	OTGLZIE0	Supportive	Autosomal dominant	[3]
NDP	OTGDJ4US	Supportive	Autosomal dominant	[4]
CADPS2	OTV1FW0M	Strong	Biomarker	[5]
TSPAN12	OTF9I3CX	Strong	Biomarker	[5]
CRYBA1	OT8617WJ	Definitive	Biomarker	[6]
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⏷ Show the Full List of 6 DOT(s)

References

1	Nine genes that may contribute to partial trisomy (6)(p22pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment.Am J Med Genet A. 2012 Apr;158A(4):707-12. doi: 10.1002/ajmg.a.33943. Epub 2012 Mar 9.
2	ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum Mol Genet. 2012 Aug 15;21(16):3681-94. doi: 10.1093/hmg/dds197. Epub 2012 May 29.
3	Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. Ophthalmic Genet. 2009 Mar;30(1):23-30. doi: 10.1080/13816810802464312.
4	NDP-Related Retinopathies. 1999 Jul 30 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
5	Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.Am J Med Genet A. 2011 Jul;155A(7):1568-73. doi: 10.1002/ajmg.a.34028. Epub 2011 May 27.
6	Modulating EGFR-MTORC1-autophagy as a potential therapy for persistent fetal vasculature (PFV) disease.Autophagy. 2020 Jun;16(6):1130-1142. doi: 10.1080/15548627.2019.1660545. Epub 2019 Sep 1.