Details of Disease | DrugMAP

General Information of Disease (ID: DISIMCL3)

Disease Name	Melorheostosis
Synonyms	melorheostosis, isolated; Mel; melorheostosis, isolated, somatic mosaic
Definition	Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.
Disease Hierarchy	DIS7GHNM: Osteopetrosis DISIMCL3: Melorheostosis
Disease Identifiers	MONDO ID MONDO_0007970 UMLS CUI C3149631 OMIM ID 155950 MedGen ID 460981 Orphanet ID 2485

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HBB	TTM6HK1	moderate	Altered Expression	[1]
ALAS1	TTG1FXO	Strong	Altered Expression	[2]
BAGE	TTS5GLJ	Strong	Biomarker	[3]
HBA2	TTQO71U	Strong	Altered Expression	[4]
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This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMIM10L2B	OT04IG2N	Limited	Biomarker	[5]
CPO	OTOIG8C9	Strong	Biomarker	[6]
GAGE1	OT53E50E	Strong	Biomarker	[3]
GAGE4	OTPB5C0O	Strong	Biomarker	[3]
GAGE5	OTFI6OVS	Strong	Biomarker	[3]
HBA1	OTW2BQF4	Strong	Altered Expression	[4]
HBD	OTRQG4WA	Strong	Genetic Variation	[7]
HBE1	OTJPKMX4	Strong	Altered Expression	[8]
HBG1	OTVL4NSU	Strong	Altered Expression	[9]
HBG2	OT4J48JJ	Strong	Altered Expression	[9]
PDCD5	OT6T2DDL	Strong	Biomarker	[10]
SSX2	OT2Z6RLL	Strong	Biomarker	[3]
LEMD3	OTILAM4I	Definitive	Autosomal dominant	[11]
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⏷ Show the Full List of 13 DOT(s)

References

1	CP2 binding to the promoter is essential for the enhanced transcription of globin genes in erythroid cells.Mol Cells. 2003 Feb 28;15(1):40-7.
2	The role of iron supply in the regulation of 5-aminolevulinate synthase mRNA levels in murine erythroleukemia cells.Neoplasma. 1996;43(1):31-6.
3	A testicular antigen aberrantly expressed in human cancers detected by autologous antibody screening.Proc Natl Acad Sci U S A. 1997 Mar 4;94(5):1914-8. doi: 10.1073/pnas.94.5.1914.
4	CACCC and GATA-1 sequences make the constitutively expressed alpha-globin gene erythroid-responsive in mouse erythroleukemia cells.Nucleic Acids Res. 1996 Jan 15;24(2):342-7. doi: 10.1093/nar/24.2.342.
5	Specific Targeting of Melanotic Cells with Peptide Ligated Photosensitizers for Photodynamic Therapy.Sci Rep. 2017 Nov 16;7(1):15750. doi: 10.1038/s41598-017-15142-w.
6	Involvement of the transcriptional factor GATA-1 in regulation of expression of coproporphyrinogen oxidase in mouse erythroleukemia cells.Biochem Biophys Res Commun. 1997 Apr 28;233(3):729-36. doi: 10.1006/bbrc.1997.6532.
7	Evidence for a globin promoter-specific silencer element located upstream of the human delta-globin gene.Biochem Biophys Res Commun. 1994 Oct 14;204(1):413-8. doi: 10.1006/bbrc.1994.2474.
8	Tissue specific transcription of the human epsilon-globin gene following transfection into the embryonic erythroid cell line K562.Nucleic Acids Res. 1985 Sep 11;13(17):6125-36. doi: 10.1093/nar/13.17.6125.
9	Comparison of expression of human globin genes transferred into mouse erythroleukemia cells and in transgenic mice.Blood. 1998 Nov 1;92(9):3416-21.
10	TFAR19 gene changes the biophysical properties of murine erythroleukemia cells.Cell Biochem Biophys. 2005;43(3):355-63. doi: 10.1385/CBB:43:3:355.
11	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.