Details of Disease

Disease Name

Connective tissue disorder

tissue disease, connective; primary disorder of connective tissue; disorder of connective tissue; disease, connective tissue; disease or disorder of connective tissue; disease of connective tissue; connective tissue disorders; connective tissue disorder; connective tissue diseases; connective tissue disease or disorder; connective tissue disease

Definition

A disease involving the connective tissue.|Following clinical usage of the term 'connective tissue disorder' this grouping excludes some diseases affecting tissues classically considered to be connective tissue, such as bone.

Disease Hierarchy

DISH7H5I: Human disease

DISKXBS3: Connective tissue disorder

Disease Identifiers

MONDO ID

MONDO_0003900

MESH ID

D003240

UMLS CUI

C0009782

MedGen ID

1098

SNOMED CT ID

105969002

General Information of Disease (ID: DISKXBS3)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 17 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CASP5	TTWR48J	Limited	Biomarker	[1]
CYP3A5	TTHS0OK	Limited	Genetic Variation	[2]
DCPS	TTLSW9V	Limited	Biomarker	[3]
FKBP10	TT4P8O2	Limited	Genetic Variation	[4]
P4HA1	TTNH25W	Limited	Genetic Variation	[5]
TGFBR1	TTP4520	Limited	Biomarker	[6]
TSSK2	TTA3Z2W	Limited	Biomarker	[7]
ABL1	TTZJTWA	Moderate	Autosomal dominant	[8]
MYLK	TT18ETS	Moderate	Autosomal dominant	[8]
NOTCH1	TTB1STW	Moderate	Autosomal dominant	[8]
NOTCH1	TTB1STW	moderate	Biomarker	[9]
PAH	TTGSVH2	Strong	Genetic Variation	[10]
PLOD1	TTEKJP3	Strong	Genetic Variation	[11]
PLOD2	TT8MEUD	Strong	Genetic Variation	[4]
PSIP1	TTH9LDP	Strong	Biomarker	[12]
TGFBR2	TTZE3P7	Strong	Genetic Variation	[6]
TPSAB1	TTM1TDX	Strong	Biomarker	[13]
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⏷ Show the Full List of 17 DTT(s)

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A10	DT3BI6S	Limited	Genetic Variation	[14]
SLC2A11	DTJK135	Limited	Genetic Variation	[14]
ABCC6	DT582KR	Strong	Biomarker	[15]
SLC39A13	DTOTKBS	Strong	Biomarker	[16]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
B4GALT7	DEKRS6L	Limited	Genetic Variation	[17]
SPR	DEJVDAT	Strong	Biomarker	[18]
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This Disease Is Related to 46 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS10	OTNJ9VSU	Limited	Genetic Variation	[19]
AEBP1	OTBI1RZ6	Limited	Biomarker	[20]
BPIFB1	OTOZYJMO	Limited	Biomarker	[21]
CHD4	OTBDEHDP	Limited	Biomarker	[22]
COL8A2	OTASWJ69	Limited	Biomarker	[23]
DDX21	OTV73GMZ	Limited	Biomarker	[24]
FKBP14	OT55W5WC	Limited	Biomarker	[25]
FLCN	OTVM78XM	Limited	Biomarker	[26]
LSM2	OTHL77NY	Limited	Genetic Variation	[27]
PKD1	OT5ALRZ5	Limited	Biomarker	[28]
PLOD3	OTT00T7Q	Limited	Genetic Variation	[29]
RIN2	OTCY73U9	Limited	Genetic Variation	[30]
SAFB	OTGRV2LW	Limited	Biomarker	[31]
SCP2	OTPAFCPQ	Limited	Biomarker	[32]
SLURP1	OT89YD2E	Limited	Biomarker	[3]
TNMD	OTHLVA9G	Limited	Biomarker	[33]
ABL1	OT09YVXH	Moderate	Autosomal dominant	[8]
ACTA2	OTEDLG8E	Moderate	Autosomal dominant	[8]
COL9A2	OT1ZBDBV	moderate	Genetic Variation	[34]
DCC	OT2C1SHW	Moderate	Autosomal recessive	[8]
MYLK	OT78QB4A	Moderate	Autosomal dominant	[8]
NOTCH1	OTI1WADQ	Moderate	Autosomal dominant	[8]
PIEZO2	OTQ7AT38	Moderate	Autosomal recessive	[8]
POLR3A	OT5MSK10	moderate	Biomarker	[35]
POP1	OTBIYMJ0	moderate	Biomarker	[36]
RTCA	OTSJRVTD	moderate	Biomarker	[35]
ADAMTS2	OTTK22NO	Strong	Biomarker	[37]
ALDH18A1	OT6W40XU	Strong	Biomarker	[38]
B3GALT6	OTF4HBAT	Strong	Genetic Variation	[39]
COL11A2	OT3BQUBH	Strong	Biomarker	[40]
COL9A3	OTCUJOEK	Strong	Biomarker	[41]
CRTAP	OT53H5U6	Strong	Biomarker	[42]
DDX19A	OTBTDR44	Strong	Biomarker	[43]
DDX46	OTB2X9TO	Strong	Biomarker	[43]
DHX16	OTW8KZAU	Strong	Biomarker	[43]
EMILIN1	OT94R6M1	Strong	Genetic Variation	[44]
FBN1	OTYCJT63	Strong	Genetic Variation	[45]
FBN2	OT3KYJQL	Strong	Genetic Variation	[46]
KERA	OTAP9L2A	Strong	Genetic Variation	[37]
PARN	OTTG4PE3	Strong	Biomarker	[47]
PRDM5	OTU1GB68	Strong	Genetic Variation	[48]
RNPC3	OTW5MKC1	Strong	Biomarker	[49]
SNRNP70	OTP52YZ3	Strong	Biomarker	[50]
TAB2	OTPZK76F	Strong	Genetic Variation	[51]
TNXB	OTVBWAV5	Strong	Biomarker	[52]
COL5A1	OT24078H	Definitive	Genetic Variation	[53]
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⏷ Show the Full List of 46 DOT(s)

References

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19	The RECK tumor-suppressor protein binds and stabilizes ADAMTS10.Biol Open. 2018 Oct 4;7(10):bio033985. doi: 10.1242/bio.033985.
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22	Myositis-specific autoantibodies in dermatomyositis/polymyositis with interstitial lung disease.J Neurol Sci. 2019 Feb 15;397:123-128. doi: 10.1016/j.jns.2018.12.040. Epub 2018 Dec 31.
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27	T cell immunity in connective tissue disease patients targets the RNA binding domain of the U1-70kDa small nuclear ribonucleoprotein.J Immunol. 2002 Sep 15;169(6):3429-37. doi: 10.4049/jimmunol.169.6.3429.
28	Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.J Am Soc Nephrol. 2011 Nov;22(11):2047-56. doi: 10.1681/ASN.2010101080. Epub 2011 Oct 27.
29	Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.Matrix Biol. 2019 Aug;81:91-106. doi: 10.1016/j.matbio.2018.11.006. Epub 2018 Nov 18.
30	RIN2 syndrome: Expanding the clinical phenotype.Am J Med Genet A. 2016 Sep;170(9):2408-15. doi: 10.1002/ajmg.a.37789. Epub 2016 Jun 8.
31	Autoantibody to scaffold attachment factor B (SAFB): A novel connective tissue disease-related autoantibody associated with interstitial lung disease.J Autoimmun. 2017 Jan;76:101-107. doi: 10.1016/j.jaut.2016.09.006. Epub 2016 Sep 25.
32	Type II Natural Killer T Cells that Recognize Sterol Carrier Protein 2 Are Implicated in Vascular Inflammation in the Rat Model of Systemic Connective Tissue Diseases.Am J Pathol. 2017 Jan;187(1):176-186. doi: 10.1016/j.ajpath.2016.09.014. Epub 2016 Nov 15.
33	Mitral valve prolapse.Annu Rev Med. 2012;63:277-92. doi: 10.1146/annurev-med-022811-091602.
34	Candidate gene association study of magnetic resonance imaging-based hip osteoarthritis (OA): evidence for COL9A2 gene as a common predisposing factor for hip OA and lumbar disc degeneration.J Rheumatol. 2011 Apr;38(4):747-52. doi: 10.3899/jrheum.100080. Epub 2010 Dec 15.
35	Association of the autoimmune disease scleroderma with an immunologic response to cancer.Science. 2014 Jan 10;343(6167):152-7. doi: 10.1126/science.1246886. Epub 2013 Dec 5.
36	hPop1: an autoantigenic protein subunit shared by the human RNase P and RNase MRP ribonucleoproteins.EMBO J. 1996 Nov 1;15(21):5936-48.
37	Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.Nat Commun. 2018 May 14;9(1):1864. doi: 10.1038/s41467-018-03646-6.
38	Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet. 2000 Nov 22;9(19):2853-8. doi: 10.1093/hmg/9.19.2853.
39	Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.Clin Genet. 2015 May;87(5):492-5. doi: 10.1111/cge.12413. Epub 2014 May 22.
40	Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. Am J Med Genet A. 2012 Feb;158A(2):309-14. doi: 10.1002/ajmg.a.34406. Epub 2012 Jan 13.
41	Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. Am J Med Genet A. 2005 Jan 15;132A(2):181-4. doi: 10.1002/ajmg.a.30411.
42	CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20;127(2):291-304. doi: 10.1016/j.cell.2006.08.039.
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44	Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease. Hum Mutat. 2016 Jan;37(1):84-97. doi: 10.1002/humu.22920. Epub 2015 Nov 4.
45	Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.Mol Genet Genomic Med. 2020 Jan;8(1):e1041. doi: 10.1002/mgg3.1041. Epub 2019 Dec 12.
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47	Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.Eur Respir J. 2016 Dec;48(6):1710-1720. doi: 10.1183/13993003.00308-2016. Epub 2016 Aug 18.
48	A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.Hum Mol Genet. 2015 Dec 1;24(23):6565-79. doi: 10.1093/hmg/ddv345. Epub 2015 Sep 22.
49	Congenital heart block and subsequent connective tissue disorder in adolescence.Lupus. 1997;6(3):283-4. doi: 10.1177/096120339700600313.
50	Is the T-G-CT-G SNRNP70 haplotype another proof that mixed connective tissue disease is distinct from systemic lupus erythematosus and systemic sclerosis? A novel gene variant in SNRNP70 gene.Clin Exp Rheumatol. 2019 Jul-Aug;37 Suppl 119(4):32-40. Epub 2019 Sep 17.
51	A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. Clin Genet. 2018 Jan;93(1):126-133. doi: 10.1111/cge.13032. Epub 2017 Aug 21.
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