Details of Disease

General Information of Disease (ID: DISFSS5N)

• Disease Name: Helicoid peripapillary chorioretinal degeneration
• Synonyms: helicoidal peripapillary chorioretinal Degeneration; peripapillary chorioretinal Degeneration, Icelandic type; SVEINSSON chorioretinal atrophy; SCRA; atrophia areata; Sveinsson chorioretinal atrophy
• Definition: Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.
• Disease Hierarchy:
  DISGGL77: Inherited retinal dystrophy
  DISFSS5N: Helicoid peripapillary chorioretinal degeneration
• Disease Identifiers:
  MONDO ID: MONDO_0007176
  MESH ID: C566236
  UMLS CUI: C1862382
  OMIM ID: 108985
  MedGen ID: 354733
  Orphanet ID: 86813
  SNOMED CT ID: 724384008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 12 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CTDSP1	TTHZAF0	Limited	Genetic Variation	[1]
DLG4	TT9PB26	Limited	Altered Expression	[2]
IDS	TTNY2AP	Limited	Genetic Variation	[3]
KDM2A	TT8XTY2	Limited	Biomarker	[4]
MC2R	TTPWFDX	Limited	Altered Expression	[5]
PCSK7	TTD30LY	Limited	Biomarker	[6]
VKORC1	TTEUC8H	Limited	Biomarker	[7]
HLA-DQB2	TTL7VOU	Strong	Genetic Variation	[8]
ICOSLG	TTB9Z8R	Strong	Genetic Variation	[8]
KLK3	TTS78AZ	Strong	Genetic Variation	[9]
NPEPPS	TT371QC	Strong	Genetic Variation	[9]
TCIRG1	TTVRN05	Strong	Altered Expression	[10]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC50A1	DTI9CQU	Limited	Genetic Variation	[1]
SLC5A8	DTE3TAW	Strong	Posttranslational Modification	[11]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PSAT1	DEBS17P	Strong	Genetic Variation	[9]

This Disease Is Related to 20 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTR2	OT3C8U5T	Limited	Altered Expression	[2]
CASP12	OTY2W6FG	Limited	Biomarker	[12]
EBF1	OTZ61YYH	Limited	Biomarker	[13]
GDF1	OTZ1VRBH	Limited	Biomarker	[14]
NPTX1	OTKVHCV0	Limited	Biomarker	[15]
PSG1	OT1U4ZZW	Limited	Altered Expression	[16]
PSG7	OT1IXGBX	Limited	Altered Expression	[16]
PSG8	OT00UZBM	Limited	Altered Expression	[16]
PTOV1	OT94WT5X	Limited	Biomarker	[17]
RNH1	OT6EC79B	Limited	Biomarker	[14]
RPE	OT0XT3JU	Limited	Biomarker	[18]
SCPEP1	OT43LYEZ	Limited	Genetic Variation	[1]
SHC3	OT305NPA	Limited	Biomarker	[14]
SYCP1	OTWFV4KA	Limited	Genetic Variation	[1]
APOD	OTT77XW8	Strong	Biomarker	[19]
ATP8B4	OT48TSYO	Strong	Genetic Variation	[20]
PLAG1	OTT9AJQY	Strong	Genetic Variation	[9]
PROS1	OTXQWNOI	Strong	Genetic Variation	[9]
SBF2	OTBB8NO8	Strong	Genetic Variation	[21]
TEAD1	OTK6971C	Strong	Autosomal dominant	[22]

References

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• [4] Large-scale profiling of serum metabolites in African American and European American patients with bladder cancer reveals metabolic pathways associated with patient survival.Cancer. 2019 Mar 15;125(6):921-932. doi: 10.1002/cncr.31890. Epub 2019 Jan 2.
• [5] An implication for post-transcriptional control: reciprocal changes of melanocortin receptor type 2 mRNA and protein expression in alopecia areata.Med Hypotheses. 2011 Jan;76(1):122-4. doi: 10.1016/j.mehy.2010.08.048. Epub 2010 Sep 29.
• [6] Metabonomics analysis of quercetin against the nephrotoxicity of acrylamide in rats.Food Funct. 2018 Nov 14;9(11):5965-5974. doi: 10.1039/c8fo00902c.
• [7] Effect of VKORC1, CYP2C9 and CYP4F2 genetic variants in early outcomes during acenocoumarol treatment.Pharmacogenomics. 2014 May;15(7):987-96. doi: 10.2217/pgs.13.232.
• [8] Single nucleotide polymorphisms in the promoter regions of Foxp3 and ICOSLG genes are associated with Alopecia areata.Clin Exp Med. 2014 Feb;14(1):91-7. doi: 10.1007/s10238-012-0224-3. Epub 2012 Nov 30.
• [9] Predictive factors for abiraterone withdrawal syndrome.Actas Urol Esp (Engl Ed). 2019 Jul-Aug;43(6):300-304. doi: 10.1016/j.acuro.2019.01.003. Epub 2019 May 3.
• [10] Genetic Analysis of Giant Cell Lesions of the Maxillofacial and Axial/Appendicular Skeletons.J Oral Maxillofac Surg. 2017 Feb;75(2):298-308. doi: 10.1016/j.joms.2016.07.014. Epub 2016 Jul 26.
• [11] SLC5A8 gene, a transporter of butyrate: a gut flora metabolite, is frequently methylated in African American colon adenomas.PLoS One. 2011;6(6):e20216. doi: 10.1371/journal.pone.0020216. Epub 2011 Jun 8.
• [12] CASPASE-12 and rheumatoid arthritis in African-Americans.Immunogenetics. 2014 Apr;66(4):281-5. doi: 10.1007/s00251-014-0762-9. Epub 2014 Feb 11.
• [13] Population-Specific Patterns of Epigenetic Defects in the B Cell Lineage in Patients With Systemic Lupus Erythematosus.Arthritis Rheumatol. 2020 Feb;72(2):282-291. doi: 10.1002/art.41083. Epub 2019 Dec 26.
• [14] Risk Haplotypes Uniquely Associated with Radioiodine-Refractory Thyroid Cancer Patients of High African Ancestry.Thyroid. 2019 Apr;29(4):530-539. doi: 10.1089/thy.2018.0687. Epub 2019 Feb 13.
• [15] Role of neuroparsin 1 in vitellogenesis in the mud crab, Scylla paramamosain.Gen Comp Endocrinol. 2020 Jan 1;285:113248. doi: 10.1016/j.ygcen.2019.113248. Epub 2019 Aug 17.
• [16] Evaluation of the protective effects of Ganoderma atrum polysaccharide on acrylamide-induced injury in small intestine tissue of rats.Food Funct. 2019 Sep 1;10(9):5863-5872. doi: 10.1039/c9fo01452g. Epub 2019 Aug 29.
• [17] Ascorbic Acid Attenuates Senescence of Human Osteoarthritic Osteoblasts.Int J Mol Sci. 2017 Nov 24;18(12):2517. doi: 10.3390/ijms18122517.
• [18] Yap and Taz regulate retinal pigment epithelial cell fate.Development. 2015 Sep 1;142(17):3021-32. doi: 10.1242/dev.119008. Epub 2015 Jul 24.
• [19] Apolipoprotein D modulates arachidonic acid signaling in cultured cells: implications for psychiatric disorders.Prostaglandins Leukot Essent Fatty Acids. 2003 Dec;69(6):421-7. doi: 10.1016/j.plefa.2003.08.014.
• [20] Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.Arthritis Rheumatol. 2018 Oct;70(10):1654-1660. doi: 10.1002/art.40541. Epub 2018 Aug 29.
• [21] Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans.Oncotarget. 2016 Dec 13;7(50):82244-82253. doi: 10.18632/oncotarget.12545.
• [22] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.