PedAM

Pediatric Disease Annotations & Medicines


	localized scleroderma

Disease ID	164
Disease	localized scleroderma
Definition	A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. Localized scleroderma typically affects the skin, with formation of patches or lines of thick and unyielding tissue; there can be muscle and underlying tissue involvement as well as occasional joint complications. The affected areas of skin can be restrictive and disfiguring. The shape, depth and location of the affected area is used to classify one of the four types of local scleroderma. An individual can have a combination of localized scleroderma types.
Synonym	addison's keloid circumscribe scleroderma circumscribed scleroderma circumscribed scleroderma nos circumscribed scleroderma nos (disorder) dermatosclerosis, localized localised dermatosclerosis localised morphoea localised morphoea (disorder) localised scleroderma localized dermatosclerosis localized morphea localized morphea (disorder) localized scleroderma (disorder) localized scleroderma (disorder) [ambiguous] localized scleroderma morphea morphea morphea scleroderma morphoea scleroderma scleroderma localized scleroderma morphea scleroderma, circumscribed scleroderma, circumscribed or localized scleroderma, localized scleroderma, localized [disease/finding] sclerodermas, localized unspecified circumscribed scleroderma unspecified circumscribed scleroderma (disorder)
Orphanet	ORPHANET:90289
DOID	DOID:8472
UMLS	C0036420
MeSH	D012594
SNOMED-CT	SNOMEDCT_US_2016_09_01:201048007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0019158 \| hepatitis \| 1 C0011644 \| scleroderma \| 1 C0019196 \| hepatitis c \| 1 C1527383 \| morphea \| 1 C0015458 \| parry-romberg syndrome \| 1 C0023787 \| lipodystrophy \| 1 C0036421 \| systemic sclerosis \| 1 C0026975 \| myelitis \| 1 C0027121 \| inflammatory myopathy \| 1 C0026848 \| myopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) TNF \| 7124 \| CTD_human CSF3 \| 1440 \| CTD_human LMNA \| 4000 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:86) 1634 \| DCN \| DISEASES 368 \| ABCC6 \| DISEASES 4320 \| MMP11 \| DISEASES 7040 \| TGFB1 \| DISEASES 973 \| CD79A \| DISEASES 6347 \| CCL2 \| DISEASES 6357 \| CCL13 \| DISEASES 3312 \| HSPA8 \| DISEASES 3458 \| IFNG \| DISEASES 2597 \| GAPDH \| DISEASES 9136 \| RRP9 \| DISEASES 8161 \| COIL \| DISEASES 3375 \| IAPP \| DISEASES 27189 \| IL17C \| DISEASES 968 \| CD68 \| DISEASES 79148 \| MMP28 \| DISEASES 6382 \| SDC1 \| DISEASES 6737 \| TRIM21 \| DISEASES 3357 \| HTR2B \| DISEASES 3569 \| IL6 \| DISEASES 26525 \| IL36RN \| DISEASES 4322 \| MMP13 \| DISEASES 4481 \| MSR1 \| DISEASES 9172 \| MYOM2 \| DISEASES 23523 \| CABIN1 \| DISEASES 10994 \| ILVBL \| DISEASES 943 \| TNFRSF8 \| DISEASES 7472 \| WNT2 \| DISEASES 55749 \| CCAR1 \| DISEASES 1513 \| CTSK \| DISEASES 1737 \| DLAT \| DISEASES 6317 \| SERPINB3 \| DISEASES 3588 \| IL10RB \| DISEASES 1278 \| COL1A2 \| DISEASES 1672 \| DEFB1 \| DISEASES 1281 \| COL3A1 \| DISEASES 27087 \| B3GAT1 \| DISEASES 23592 \| LEMD3 \| DISEASES 947 \| CD34 \| DISEASES 6578 \| SLCO2A1 \| DISEASES 8425 \| LTBP4 \| DISEASES 79966 \| SCD5 \| DISEASES 4026 \| LPP \| DISEASES 8607 \| RUVBL1 \| DISEASES 414325 \| DEFB103A \| DISEASES 4312 \| MMP1 \| DISEASES 55894 \| DEFB103B \| DISEASES 2200 \| FBN1 \| DISEASES 64806 \| IL25 \| DISEASES 6401 \| SELE \| DISEASES 8338 \| HIST2H2AC \| DISEASES 4088 \| SMAD3 \| DISEASES 9138 \| ARHGEF1 \| DISEASES 3605 \| IL17A \| DISEASES 9719 \| ADAMTSL2 \| DISEASES 2213 \| FCGR2B \| DISEASES 170482 \| CLEC4C \| DISEASES 7150 \| TOP1 \| DISEASES 7042 \| TGFB2 \| DISEASES 6993 \| DYNLT1 \| DISEASES 1490 \| CTGF \| DISEASES 8349 \| HIST2H2BE \| DISEASES 8337 \| HIST2H2AA3 \| DISEASES 26227 \| PHGDH \| DISEASES 959 \| CD40LG \| DISEASES 3339 \| HSPG2 \| DISEASES 7133 \| TNFRSF1B \| DISEASES 3105 \| HLA-A \| DISEASES 5394 \| EXOSC10 \| DISEASES 441376 \| AARD \| DISEASES 10631 \| POSTN \| DISEASES 390598 \| SKOR1 \| DISEASES 3456 \| IFNB1 \| DISEASES 3045 \| HBD \| DISEASES 54796 \| BNC2 \| DISEASES 11168 \| PSIP1 \| DISEASES 4145 \| MATK \| DISEASES 643418 \| LIPN \| DISEASES 50489 \| CD207 \| DISEASES 2086 \| ERV3-1 \| DISEASES 387836 \| CLEC2A \| DISEASES 7124 \| TNF \| DISEASES 2313 \| FLI1 \| DISEASES 30816 \| ERVW-1 \| DISEASES 488 \| ATP2A2 \| DISEASES 6625 \| SNRNP70 \| DISEASES
Locus	(Waiting for update.)

Disease ID	164
Disease	localized scleroderma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:16) HP:0002829 \| Arthralgia HP:0001371 \| Flexion contracture HP:0000953 \| Hyperpigmentation of the skin HP:0100578 \| Lipoatrophy HP:0004552 \| Scarring alopecia of scalp HP:0001073 \| Cigarette-paper scars HP:0005830 \| Flexion contracture of toe HP:0001010 \| Hypopigmentation of the skin HP:0100556 \| Hemiatrophy HP:0003202 \| Skeletal muscle atrophy HP:0100557 \| Hemiatrophy of lower limb HP:0100558 \| Hemiatrophy of upper limb HP:0004334 \| Dermal atrophy HP:0001171 \| Split hand HP:0003326 \| Myalgia HP:0030053 \| Stiff skin
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0003613 \| Antiphospholipid antibodies \| 1 HP:0009071 \| Inflammatory myopathy \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0009125 \| Lipodystrophy \| 1 HP:0012344 \| Morphea \| 1 HP:0200123 \| Chronic liver inflammation \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0012486 \| Inflammation of spinal cord \| 1

Disease ID	164
Disease	localized scleroderma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:13) C0442893 \| systemic disease C0344297 \| choroidal sclerosis C0220989 \| acquired partial lipodystrophy C0040034 \| thrombocytopenia C0037763 \| spasm C0037285 \| skin manifestations C0037284 \| skin lesions C0036421 \| systemic sclerosis C0027121 \| inflammatory myopathy C0026821 \| muscle cramps C0021053 \| immune disorders C0007137 \| squamous cell carcinoma C0006272 \| bronchiolitis obliterans
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0036421 \| systemic sclerosis \| 1 C0220989 \| acquired partial lipodystrophy \| 1 C0027121 \| inflammatory myopathy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100559	Lower limb asymmetry	MP:0002109	abnormal limb morphology;HP:0003202	Skeletal muscle atrophy

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001053	Hypopigmented skin patches	MP:0005402	abnormal action potential;HP:0100559	Lower limb asymmetry

Chemical(Total Drugs:6)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0036420	cyclosporine	D016572	59865-13-3	scleroderma, localized	MESH:D012594	therapeutic	15863969
C0036420	fluorouracil	D005472	51-21-8	scleroderma, localized	MESH:D012594	marker/mechanism	18360124
C0036420	melphalan	D008558	148-82-3	scleroderma, localized	MESH:D012594	marker/mechanism	9843018
C0036420	paclitaxel	D017239	-	scleroderma, localized	MESH:D012594	marker/mechanism	20598060
C0036420	sotalol	D013015	3930-20-9	scleroderma, localized	MESH:D012594	marker/mechanism	83509
C0036420	valproic acid	D014635	99-66-1	scleroderma, localized	MESH:D012594	marker/mechanism	14629913

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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