Details of Disease

Disease Name

X-linked reticulate pigmentary disorder

amyloidosis, familial cutaneous; pigmentary disorder, reticulate, with systemic manifestations, X-linked; pigmentary disorder, reticulate, with systemic manifestations; pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive; XLPDR; Partington disease; familial cutaneous amyloidosis; X-linked cutaneous amyloidosis; PDR

Definition

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230)

Disease Hierarchy

DISKP5TO: Type 1 interferonopathy of childhood

DIS8I9FS: Hereditary disorder of connective tissue

DISSCALK: Hereditary skin disorder

DIS0RB5A: X-linked reticulate pigmentary disorder

Disease Identifiers

MONDO ID

MONDO_0010523

MESH ID

C564461

UMLS CUI

C1845050

OMIM ID

301220

MedGen ID

336844

Orphanet ID

85453

SNOMED CT ID

717224002

General Information of Disease (ID: DIS0RB5A)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 15 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
POLA1	TTGPJ0U	Limited	Biomarker	[1]
ADRB3	TTMXGCW	Strong	Genetic Variation	[2]
ANGPTL3	TT59GO7	Strong	Biomarker	[3]
APOA2	TTGQA9W	Strong	Altered Expression	[4]
CFD	TT8D13I	Strong	Altered Expression	[5]
CNTF	TTGEM5Q	Strong	Altered Expression	[6]
CTSH	TT3G406	Strong	Genetic Variation	[7]
DPEP1	TTYUENF	Strong	Biomarker	[8]
IL11RA	TTZPLJS	Strong	Biomarker	[9]
PCSK2	TT46F0P	Strong	Genetic Variation	[10]
PLXDC1	TTPSK7A	Strong	Biomarker	[11]
POLA1	TTGPJ0U	Strong	X-linked	[12]
ROBO4	TT3S9TY	Strong	Biomarker	[13]
STK38	TT27XFN	Strong	Biomarker	[14]
CCN1	TTPK79J	Definitive	Altered Expression	[15]
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⏷ Show the Full List of 15 DTT(s)

This Disease Is Related to 26 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANGPTL8	OTQFINCD	Strong	Altered Expression	[16]
ATP1A3	OTM8EG6H	Strong	Biomarker	[8]
C1QTNF12	OTFAIQHR	Strong	Genetic Variation	[17]
C1QTNF5	OTLKU5I2	Strong	Biomarker	[18]
C9	OT7I5FDX	Strong	Altered Expression	[5]
CAPN5	OTQ8QM7K	Strong	Genetic Variation	[19]
CCL15	OTOGZ85M	Strong	Altered Expression	[20]
GFRA1	OT3WBVYB	Strong	Biomarker	[21]
GFRA2	OT34CXNN	Strong	Altered Expression	[21]
HEMGN	OTZPYUOY	Strong	Biomarker	[14]
HYOU1	OTBGBSOV	Strong	Altered Expression	[22]
IL26	OT2WYCW4	Strong	Biomarker	[23]
ITIH2	OTG3WBBE	Strong	Biomarker	[24]
KRT1	OTIOJWA4	Strong	Altered Expression	[25]
LAMA1	OTQZMP86	Strong	Biomarker	[26]
MALRD1	OTCAAPVO	Strong	Genetic Variation	[10]
MFRP	OTHY9ZA5	Strong	Biomarker	[18]
NELFE	OTL4E94L	Strong	Biomarker	[8]
PIWIL4	OTDA9MY0	Strong	Altered Expression	[27]
POLA1	OT1WXFVY	Strong	X-linked	[12]
PRPH	OT6VUH78	Strong	Genetic Variation	[28]
RBP3	OTIWM4GT	Strong	Biomarker	[29]
SNAP47	OT1DE2QT	Strong	Biomarker	[30]
SRSF5	OTC5WP98	Strong	Genetic Variation	[31]
SRSF6	OTGLOSYE	Strong	Genetic Variation	[31]
TMEM217	OTD7DG7V	Strong	Genetic Variation	[17]
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⏷ Show the Full List of 26 DOT(s)

References

1	Defective DNA Polymerase -Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. Am J Hum Genet. 2019 May 2;104(5):957-967. doi: 10.1016/j.ajhg.2019.03.006. Epub 2019 Apr 18.
2	Beta 3-adrenoreceptor gene polymorphism: a newly identified risk factor for proliferative retinopathy in NIDDM patients.Diabetes. 1997 Oct;46(10):1633-6. doi: 10.2337/diacare.46.10.1633.
3	Angiopoietin-like 3 Is a Potential Biomarker for Retinopathy in Type 2 Diabetic Patients.Am J Ophthalmol. 2018 Jul;191:34-41. doi: 10.1016/j.ajo.2018.03.040. Epub 2018 Apr 3.
4	Difference in the Vitreal Protein Profiles of Patients with Proliferative Diabetic Retinopathy with and without Intravitreal Conbercept Injection.J Ophthalmol. 2018 Apr 19;2018:7397610. doi: 10.1155/2018/7397610. eCollection 2018.
5	INCREASED COMPLEMENT LEVELS IN HUMAN VITREOUS ASPIRATES OF PROLIFERATIVE DIABETIC RETINOPATHY AND RETINAL DETACHMENT EYES.Retina. 2019 Nov;39(11):2212-2218. doi: 10.1097/IAE.0000000000002288.
6	Assessment of Neurotrophins and Inflammatory Mediators in Vitreous of Patients With Diabetic Retinopathy.Invest Ophthalmol Vis Sci. 2017 Oct 1;58(12):5594-5603. doi: 10.1167/iovs.17-21973.
7	Polymorphisms in the CTSH gene may influence the progression of diabetic retinopathy: a candidate-gene study in the Danish Cohort of Pediatric Diabetes 1987 (DCPD1987).Graefes Arch Clin Exp Ophthalmol. 2015 Nov;253(11):1959-65. doi: 10.1007/s00417-015-3118-8. Epub 2015 Aug 6.
8	Retinal Nonperfusion Characteristics on Ultra-Widefield Angiography in Eyes With Severe Nonproliferative Diabetic Retinopathy and Proliferative Diabetic Retinopathy.JAMA Ophthalmol. 2019 Jun 1;137(6):626-631. doi: 10.1001/jamaophthalmol.2019.0440.
9	Interleukin-11 Overexpression and M2 Macrophage Density are Associated with Angiogenic Activity in Proliferative Diabetic Retinopathy.Ocul Immunol Inflamm. 2020 May 18;28(4):575-588. doi: 10.1080/09273948.2019.1616772. Epub 2019 Aug 12.
10	Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.BMC Med Genet. 2018 May 8;19(1):71. doi: 10.1186/s12881-018-0587-8.
11	TEM7 (PLXDC1) in neovascular endothelial cells of fibrovascular membranes from patients with proliferative diabetic retinopathy.Invest Ophthalmol Vis Sci. 2008 Jul;49(7):3151-7. doi: 10.1167/iovs.07-1249. Epub 2008 Mar 3.
12	DNA polymerase- regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. Nat Immunol. 2016 May;17(5):495-504. doi: 10.1038/ni.3409. Epub 2016 Mar 28.
13	Upregulated VEGF and Robo4 correlate with the reduction of miR-15a in the development of diabetic retinopathy.Endocrine. 2019 Jul;65(1):35-45. doi: 10.1007/s12020-019-01921-0. Epub 2019 Apr 12.
14	Plasma metabolomic profiling of proliferative diabetic retinopathy.Nutr Metab (Lond). 2019 May 28;16:37. doi: 10.1186/s12986-019-0358-3. eCollection 2019.
15	Potential role of Cyr61 induced degeneration of human Mller cells in diabetic retinopathy.PLoS One. 2014 Oct 16;9(10):e109418. doi: 10.1371/journal.pone.0109418. eCollection 2014.
16	Clinical and experimental study on angiopoietin-like protein 8 associated with proliferative diabetic retinopathy.Int J Ophthalmol. 2017 Dec 18;10(12):1819-1823. doi: 10.18240/ijo.2017.12.05. eCollection 2017.
17	Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.Vision Res. 2017 Oct;139:168-176. doi: 10.1016/j.visres.2017.03.007. Epub 2017 May 9.
18	CTRP3 is a novel biomarker for diabetic retinopathy and inhibits HGHL-induced VCAM-1 expression in an AMPK-dependent manner.PLoS One. 2017 Jun 20;12(6):e0178253. doi: 10.1371/journal.pone.0178253. eCollection 2017.
19	Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.Sci Rep. 2019 May 20;9(1):7608. doi: 10.1038/s41598-019-44031-7.
20	Comprehensive analysis of vitreous humor chemokines in type 2 diabetic patients with and without diabetic retinopathy.Acta Diabetol. 2019 Jul;56(7):797-805. doi: 10.1007/s00592-019-01317-6. Epub 2019 Mar 25.
21	Neurotrophic factor receptors in epiretinal membranes after human diabetic retinopathy.Diabetes Care. 2002 Jun;25(6):1060-5. doi: 10.2337/diacare.25.6.1060.
22	Association of 150-kDa oxygen-regulated protein with vascular endothelial growth factor in proliferative diabetic retinopathy.Acta Ophthalmol. 2018 Jun;96(4):e460-e467. doi: 10.1111/aos.13600. Epub 2017 Nov 2.
23	Increased interleukin-26 expression in proliferative diabetic retinopathy.Int J Ophthalmol. 2019 Nov 18;12(11):1688-1692. doi: 10.18240/ijo.2019.11.04. eCollection 2019.
24	Proteomic analysis of human vitreous fluid by fluorescence-based difference gel electrophoresis (DIGE): a new strategy for identifying potential candidates in the pathogenesis of proliferative diabetic retinopathy.Diabetologia. 2007 Jun;50(6):1294-303. doi: 10.1007/s00125-007-0627-y. Epub 2007 Mar 23.
25	Change of ranibizumab-induced human vitreous protein profile in patients with proliferative diabetic retinopathy based on proteomics analysis.Clin Proteomics. 2018 Mar 9;15:12. doi: 10.1186/s12014-018-9187-z. eCollection 2018.
26	Effects of High Glucose on the Expression of LAMA1 and Biological Behavior of Choroid Retinal Endothelial Cells.J Diabetes Res. 2018 Jun 5;2018:7504614. doi: 10.1155/2018/7504614. eCollection 2018.
27	PIWI-like protein, HIWI2: A novel player in proliferative diabetic retinopathy.Exp Eye Res. 2018 Dec;177:191-196. doi: 10.1016/j.exer.2018.08.018. Epub 2018 Aug 23.
28	Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina.Mol Vis. 1996 Jun 20;2:6.
29	Interphotoreceptor retinoid-binding protein (IRBP) is downregulated at early stages of diabetic retinopathy.Diabetologia. 2009 Dec;52(12):2633-41. doi: 10.1007/s00125-009-1548-8. Epub 2009 Oct 13.
30	Soluble vascular adhesion protein-1 accumulates in proliferative diabetic retinopathy.Invest Ophthalmol Vis Sci. 2012 Jun 26;53(7):4055-62. doi: 10.1167/iovs.12-9857.
31	Splicing factor polymorphisms, the control of VEGF isoforms and association with angiogenic eye disease.Curr Eye Res. 2011 Apr;36(4):328-35. doi: 10.3109/02713683.2010.548892. Epub 2011 Feb 10.