Details of Disease

General Information of Disease (ID: DISVQ342)

• Disease Name: Scleroderma
• Synonyms: dermatosclerosis; scleroderma (disease); scleroderma
• Disease Class: 4A42: Systemic sclerosis
• Definition: Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).
• Disease Hierarchy:
  DISORMTM: Autoimmune disease
  DIS77ACK: Rheumatic disorder
  DISVQ342: Scleroderma
• ICD Code:
  ICD-11: ICD-11: 4A42
  ICD-9: ICD-9: 701.0710.1
  Expand ICD-11: '4A42.Z
  Expand ICD-9: 701.0710.1
• Disease Identifiers:
  MONDO ID: MONDO_0019340
  MESH ID: D012594
  UMLS CUI: C0011644
  MedGen ID: 3770
  HPO ID: HP:0100324
  Orphanet ID: 801
  SNOMED CT ID: 267874003

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 5 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Belumosudil	DM548TK	Approved	NA	[1]
Benzoic Acid	DMKB9FI	Approved	Small molecular drug	[2]
Bosentan	DMIOGBU	Approved	Small molecular drug	[3]
Cyclophosphamide	DM4O2Z7	Approved	Small molecular drug	[4]
Imatinib	DM7RJXL	Approved	Small molecular drug	[5]

This Disease is Treated as An Indication in 10 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
ECCS-50	DML7H98	Phase 3	NA	[1]
Habeo	DM41I1T	Phase 3	NA	[6]
BMS-986020	DMHMV6E	Phase 2	NA	[7]
MRG-201	DM9M5WV	Phase 2	NA	[1]
Recombinant human relaxin	DMMYU5T	Phase 2	NA	[8]
Solubilized type 1 native bovine collagen	DML2ZWR	Phase 2	NA	[9]
C 82	DMEWXFK	Phase 1/2	NA	[1]
Metelimumab	DMENFD6	Phase 1/2	Antibody	[10]
FCX-013	DMECV92	Phase 1	NA	[6]
MEDl-551	DM1ALHT	Phase 1	Antibody	[11]

This Disease is Treated as An Indication in 2 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
ANG-3070	DM1JXTL	Investigative	NA	[12]
DasKloster 0501-01	DMLOK7B	Investigative	NA	[12]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 22 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CCN2	TTIL516	Limited	Altered Expression	[13]
HDAC5	TTUELN5	Limited	Biomarker	[14]
ITGA5	TTHIZP9	Limited	Altered Expression	[15]
ACKR1	TTKY2NS	Strong	Biomarker	[16]
ALDH3A2	TTB6UM0	Strong	Genetic Variation	[17]
ALOX5AP	TTDMBF5	Strong	Genetic Variation	[18]
COL1A2	TTUABC1	Strong	Altered Expression	[19]
CSF3	TT5TQ2W	Strong	Therapeutic	[20]
DDR2	TTU98HG	Strong	Altered Expression	[21]
ENPP2	TTSCIM2	Strong	Biomarker	[22]
FKBP1A	TTMW94E	Strong	Biomarker	[23]
HDC	TTV9GOF	Strong	Altered Expression	[24]
IL13RA1	TTNEAMG	Strong	Biomarker	[25]
KIR2DL2	TTU0P73	Strong	Biomarker	[26]
KIR2DS2	TTV3CFI	Strong	Biomarker	[26]
MMP1	TTMX39J	Strong	Altered Expression	[27]
PAH	TTGSVH2	Strong	Biomarker	[28]
PLOD2	TT8MEUD	Strong	Altered Expression	[29]
SLC25A1	TTTD730	Strong	Biomarker	[30]
SMAD7	TT0J32Z	Strong	Biomarker	[31]
SRPK2	TTCZEJ9	Strong	Biomarker	[32]
TNFSF14	TTKVENM	Strong	Biomarker	[16]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC6	DT582KR	Definitive	Genetic Variation	[33]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PGM1	DEA3VM1	Strong	Biomarker	[34]

This Disease Is Related to 58 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BTG3	OT9ANHVT	Limited	Biomarker	[35]
FBRS	OTUVH446	Limited	Biomarker	[36]
FLI1	OT0EV3LX	Limited	Biomarker	[37]
POLR3A	OT5MSK10	Limited	Biomarker	[38]
SRY	OT516T6D	Limited	Biomarker	[39]
SS18L1	OT9ZEGV7	Limited	Genetic Variation	[40]
FBL	OTRODIE5	moderate	Biomarker	[41]
GZMA	OT43R33L	moderate	Altered Expression	[42]
HLA-DPB1	OTW8JHU2	moderate	Biomarker	[43]
MYBL2	OTZ3JX8Q	moderate	Altered Expression	[44]
RTCA	OTSJRVTD	moderate	Biomarker	[45]
ASAP2	OTGEXULW	Strong	Biomarker	[46]
BANK1	OTXAAA11	Strong	Biomarker	[47]
CARD16	OT4NUHWB	Strong	Biomarker	[48]
CARMIL1	OT1A5IX5	Strong	Altered Expression	[49]
CEBPZ	OT11BATG	Strong	Biomarker	[44]
CENPA	OT0NEJ4X	Strong	Biomarker	[50]
CENPC	OTVJ6VE9	Strong	Biomarker	[51]
COPB2	OT82JIGC	Strong	Biomarker	[48]
CSAD	OT3I2G0A	Strong	Altered Expression	[52]
CYCS	OTBFALJD	Strong	Biomarker	[53]
DNASE1L3	OTEUIMC2	Strong	Genetic Variation	[54]
EGR3	OTGPJIRA	Strong	Altered Expression	[55]
EIF2B1	OT4NCVY1	Strong	Biomarker	[35]
EIF2B2	OTQQMHM1	Strong	Biomarker	[35]
EIF2B4	OTTM5SX1	Strong	Biomarker	[35]
EIF2S2	OTXF0B09	Strong	Biomarker	[35]
EMG1	OTFDX7HY	Strong	Biomarker	[56]
ERAL1	OTSH78HD	Strong	Genetic Variation	[57]
EXOSC10	OTH8Z0AL	Strong	Genetic Variation	[58]
GTF2I	OTUYL1TQ	Strong	Genetic Variation	[59]
HLA-DRB5	OTUX5TWM	Strong	Altered Expression	[60]
IFI16	OT4SPU0U	Strong	Biomarker	[61]
IFT122	OTSK3OAD	Strong	Biomarker	[62]
LMNA	OT3SG7ZR	Strong	Genetic Variation	[63]
LTBP4	OTC8WL2V	Strong	Biomarker	[64]
MBD1	OTD19VO6	Strong	Biomarker	[65]
MRPS30	OTDXIAGG	Strong	Biomarker	[46]
MT3	OTVCZ7HI	Strong	Biomarker	[66]
MTPAP	OT6HQ02S	Strong	Biomarker	[46]
NID2	OTHC33FF	Strong	Altered Expression	[67]
OXCT1	OT536PE7	Strong	Biomarker	[68]
PAPOLA	OTPHD65D	Strong	Biomarker	[46]
PCM1	OTFM133C	Strong	Biomarker	[65]
PDAP1	OTJSWMOD	Strong	Biomarker	[46]
PLAA	OTZ7NJGA	Strong	Genetic Variation	[69]
POLR1A	OTDWI0TG	Strong	Biomarker	[38]
RBFOX2	OTXY1WVH	Strong	Altered Expression	[29]
RNPS1	OT7G4COD	Strong	Biomarker	[32]
SERPINE2	OTYF5340	Strong	Biomarker	[70]
SMG1	OTTS3SXE	Strong	Biomarker	[22]
SPIN1	OT69VAOX	Strong	Genetic Variation	[59]
TSSK1B	OTRATM7R	Strong	Biomarker	[71]
DNAAF3	OT3OHO0O	Definitive	Biomarker	[72]
DNAH5	OTC21RUS	Definitive	Biomarker	[72]
DNAI1	OTF6C65Q	Definitive	Biomarker	[72]
PAK3	OT80M3BV	Definitive	Genetic Variation	[33]
PCBD1	OTDSRUD5	Definitive	Biomarker	[72]

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