Details of Disease

Disease Name

Recessive X-linked ichthyosis

placental steroid sulfatase deficiency; STS deficiency; ichthyosis, X-linked; SSDD; steroid sulfatase deficiency disease; X linked ichthyosis; ichthyosis, X-linked, complicated; X-linked ichthyosis with steryl-sulphatase deficiency; X-linked recessive ichthyosis; Ichthyosis, X Linked; steroid sulfatase deficiency; RXLI; X-linked ichthyosis; X-linked placental steryl-sulphatase deficiency; recessive X-linked ichthyosis; ichthyosis , X-linked, X-linked recessive; XLI; ichthyosis (disease), X-linked

Definition

A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.|There are both syndromic and non-syndromic forms of this disease (PMID:20643494).

Disease Hierarchy

DISTBLY7: Sterol metabolism disorder

DISHZGSA: X-linked recessive disease

DISKGT16: Inherited ichthyosis

DISZY56W: Recessive X-linked ichthyosis

Disease Identifiers

MONDO ID

MONDO_0010622

MESH ID

D016114

UMLS CUI

C0079588

OMIM ID

308100

MedGen ID

86937

Orphanet ID

461

SNOMED CT ID

72523005

General Information of Disease (ID: DISZY56W)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSPG4	TT7MYXI	moderate	Altered Expression	[1]
KLK7	TTE6GTB	moderate	Genetic Variation	[2]
RTN4R	TTVRZUO	moderate	Biomarker	[3]
TACC3	TTQ4UFD	moderate	Biomarker	[4]
TST	TT51OTS	moderate	Altered Expression	[5]
COL7A1	TTBCOKN	Strong	Genetic Variation	[6]
GSTA1	TT4P8DE	Strong	Biomarker	[7]
MDM2	TT9TE0O	Strong	Genetic Variation	[8]
TGM1	TT7A949	Strong	Genetic Variation	[9]
STS	TTHM0R1	Definitive	X-linked	[10]
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⏷ Show the Full List of 10 DTT(s)

This Disease Is Related to 26 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DEPDC1B	OTMVFOT1	Limited	Altered Expression	[11]
MUC5B	OTPW6K5C	Limited	Biomarker	[12]
PLAGL1	OTZAO900	Limited	Posttranslational Modification	[13]
SS18	OTDKHN1E	Limited	Altered Expression	[14]
SSX2	OT2Z6RLL	Limited	Biomarker	[14]
ANOS1	OTZJT4KN	moderate	Biomarker	[15]
ATF1	OT251CI0	moderate	Genetic Variation	[16]
CREG1	OTRHJ8HK	moderate	Altered Expression	[17]
HCCS	OTQE88BE	moderate	Biomarker	[18]
HIF3A	OTPWAAMC	moderate	Altered Expression	[19]
LAMB1	OT6J9LJR	moderate	Biomarker	[20]
MAPK8IP2	OTDUHLN0	moderate	Biomarker	[21]
MIEF1	OTFSP3FS	moderate	Biomarker	[22]
NLGN4X	OTDJGBK8	moderate	Genetic Variation	[23]
PIWIL2	OT1PXQIF	moderate	Biomarker	[24]
PRB2	OTAD4JZ0	moderate	Altered Expression	[25]
PRIMA1	OT9ITT3P	moderate	Altered Expression	[26]
PUDP	OTEPEJLX	moderate	Altered Expression	[27]
SPINK5	OT61IIAO	moderate	Genetic Variation	[2]
CD8A	OTDWQJXK	Strong	Biomarker	[28]
FBP2	OT9R1LF7	Strong	Biomarker	[29]
FLG	OTE9QDV6	Strong	Biomarker	[30]
HEATR3	OTB52FZ4	Strong	Biomarker	[31]
PSD	OTUZIXUZ	Strong	Biomarker	[32]
STOM	OTC8R6EH	Strong	Biomarker	[33]
STS	OTXTJQPC	Definitive	X-linked	[10]
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⏷ Show the Full List of 26 DOT(s)

References

1	Effects of chondroitin sulfate proteoglycan 4 (NG2/CSPG4) on soft-tissue sarcoma growth depend on tumor developmental stage.J Biol Chem. 2018 Feb 16;293(7):2466-2475. doi: 10.1074/jbc.M117.805051. Epub 2017 Dec 1.
2	Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.J Korean Med Sci. 2016 Aug;31(8):1307-18. doi: 10.3346/jkms.2016.31.8.1307. Epub 2016 May 20.
3	Aminopeptidase N (CD13): Expression, Prognostic Impact, and Use as Therapeutic Target for Tissue Factor Induced Tumor Vascular Infarction in Soft Tissue Sarcoma.Transl Oncol. 2018 Dec;11(6):1271-1282. doi: 10.1016/j.tranon.2018.08.004. Epub 2018 Aug 17.
4	Clinicopathological and prognostic value of transforming acidic coiled-coil-containing protein 3 (TACC3) expression in soft tissue sarcomas.PLoS One. 2017 Nov 14;12(11):e0188096. doi: 10.1371/journal.pone.0188096. eCollection 2017.
5	Sodium thiosulfate post-conditioning protects rat hearts against ischemia reperfusion injury via reduction of apoptosis and oxidative stress.Chem Biol Interact. 2017 Aug 25;274:24-34. doi: 10.1016/j.cbi.2017.07.002. Epub 2017 Jul 6.
6	X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.Dermatology. 2010;221(2):113-6. doi: 10.1159/000313507. Epub 2010 Jun 4.
7	MRP1 overexpression determines poor prognosis in prospectively treated patients with localized high-risk soft tissue sarcoma of limbs and trunk wall: an ISG/GEIS study.Mol Cancer Ther. 2014 Jan;13(1):249-59. doi: 10.1158/1535-7163.MCT-13-0406. Epub 2013 Oct 21.
8	Determining the prognostic significance of alternative splicing events in soft tissue sarcoma using data from The Cancer Genome Atlas.J Transl Med. 2019 Aug 23;17(1):283. doi: 10.1186/s12967-019-2029-6.
9	Distinguishing ichthyoses by protein profiling.PLoS One. 2013 Oct 9;8(10):e75355. doi: 10.1371/journal.pone.0075355. eCollection 2013.
10	Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell. 1987 May 22;49(4):443-54. doi: 10.1016/0092-8674(87)90447-8.
11	Prognostic role of XTP1/DEPDC1B and SDP35/DEPDC1A in high grade soft-tissue sarcomas.Histol Histopathol. 2018 Jun;33(6):597-608. doi: 10.14670/HH-11-959. Epub 2018 Jan 3.
12	Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene.Int J Dermatol. 2009 Feb;48(2):142-4. doi: 10.1111/j.1365-4632.2009.03996.x.
13	Prognostic value of PLAGL1-specific CpG site methylation in soft-tissue sarcomas.PLoS One. 2013 Nov 15;8(11):e80741. doi: 10.1371/journal.pone.0080741. eCollection 2013.
14	Molecular analyses in the diagnosis and prediction of prognosis in non-GIST soft tissue sarcomas: A systematic review and meta-analysis.Cancer Treat Rev. 2018 May;66:74-81. doi: 10.1016/j.ctrv.2018.04.005. Epub 2018 Apr 22.
15	Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.Cytogenet Genome Res. 2017;151(1):1-4. doi: 10.1159/000458469. Epub 2017 Mar 3.
16	Classification of clear-cell sarcoma as a subtype of melanoma by genomic profiling.J Clin Oncol. 2003 May 1;21(9):1775-81. doi: 10.1200/JCO.2003.10.108.
17	Overexpression of CREG attenuates atherosclerotic endothelium apoptosis via VEGF/PI3K/AKT pathway.Atherosclerosis. 2011 Oct;218(2):543-51. doi: 10.1016/j.atherosclerosis.2011.08.002. Epub 2011 Aug 10.
18	Antiproliferative activity of epigallocatechin?gallate and silibinin on soft tissue sarcoma cells.Mol Med Rep. 2017 Jan;15(1):103-110. doi: 10.3892/mmr.2016.5969. Epub 2016 Nov 28.
19	MicroRNA response to hypoxic stress in soft tissue sarcoma cells: microRNA mediated regulation of HIF3.BMC Cancer. 2014 Jun 13;14:429. doi: 10.1186/1471-2407-14-429.
20	Novel drug candidate for the treatment of several softtissue sarcoma histologic subtypes: A computational method using survivalassociated gene signatures for drug repurposing.Oncol Rep. 2019 Apr;41(4):2241-2253. doi: 10.3892/or.2019.7033. Epub 2019 Feb 26.
21	Investigating a chimeric anti-mouse PDGFR antibody as a radiosensitizer in primary mouse sarcomas.EBioMedicine. 2019 Feb;40:224-230. doi: 10.1016/j.ebiom.2019.01.046. Epub 2019 Jan 31.
22	Loss of MIEF1/MiD51 confers susceptibility to BAX-mediated cell death and PINK1-PRKN-dependent mitophagy.Autophagy. 2019 Dec;15(12):2107-2125. doi: 10.1080/15548627.2019.1596494. Epub 2019 Mar 28.
23	X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.J Med Genet. 2008 Aug;45(8):519-24. doi: 10.1136/jmg.2008.057729. Epub 2008 Apr 15.
24	Expression of human Piwi-like genes is associated with prognosis for soft tissue sarcoma patients.BMC Cancer. 2012 Jun 29;12:272. doi: 10.1186/1471-2407-12-272.
25	The retinoblastoma family member pRb2/p130 is an independent predictor of survival in human soft tissue sarcomas.Clin Cancer Res. 2008 Aug 1;14(15):4775-9. doi: 10.1158/1078-0432.CCR-07-4055.
26	PRIMA-1(MET) induces death in soft-tissue sarcomas cell independent of p53.BMC Cancer. 2015 Oct 13;15:684. doi: 10.1186/s12885-015-1667-1.
27	HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase.Biochem J. 2010 Oct 15;431(2):237-44. doi: 10.1042/BJ20100174.
28	Integrated Expression Profiles Analysis Reveals Correlations Between the IL-33/ST2 Axis and CD8(+) T Cells, Regulatory T Cells, and Myeloid-Derived Suppressor Cells in Soft Tissue Sarcoma.Front Immunol. 2018 May 29;9:1179. doi: 10.3389/fimmu.2018.01179. eCollection 2018.
29	Fructose-1,6-Bisphosphatase 2 Inhibits Sarcoma Progression by Restraining Mitochondrial Biogenesis.Cell Metab. 2020 Jan 7;31(1):174-188.e7. doi: 10.1016/j.cmet.2019.10.012. Epub 2019 Nov 21.
30	Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.BMC Med Genet. 2018 Jul 18;19(1):120. doi: 10.1186/s12881-018-0642-5.
31	Curcumin and Viscum album Extract Decrease Proliferation and Cell Viability of Soft-Tissue Sarcoma Cells: An In Vitro Analysis of Eight Cell Lines Using Real-Time Monitoring and Colorimetric Assays.Nutr Cancer. 2017 Feb-Mar;69(2):340-351. doi: 10.1080/01635581.2017.1263349. Epub 2017 Jan 3.
32	Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.Obstet Gynecol Surv. 1986 Jul;41(7):401-13.
33	Simultaneous expression of flotillin-1, flotillin-2, stomatin and caveolin-1 in non-small cell lung cancer and soft tissue sarcomas.BMC Cancer. 2014 Feb 17;14:100. doi: 10.1186/1471-2407-14-100.