PedAM

Pediatric Disease Annotations & Medicines


	crest syndrome

Disease ID	153
Disease	crest syndrome
Definition	A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
Synonym	calcinosis cutis, raynaud's, esophageal dysfunction, sclerodactyly and telangiectasia calcinosis cutis, raynaud's, oesophageal dysfunction, sclerodactyly and telangiectasia calcinosis, raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (crest) syndrome calcinosis, raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome calcinosis, raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (crest) syndrome calcinosis, raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (crest) syndrome (disorder) calcinosis, raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia syndrome calcinosis, raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia syndrome (disorder) calcinosis, raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, and telangiectasia (crest) syndrome calcinosis, raynaud's phenomenon, sclerodactyly, esophageal dysfunction, telangiectasia syndrome calcinosis, raynaud's phenomenon, sclerodactyly, oesophageal dysfunction, telangiectasia syndrome calcinosis, raynaud's phenomenon, sclerodactyly, oesophageal dysfunction, telangiectasia syndrome (disorder) crest crest - calcinosis, raynaud's phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia crest - calcinosis, raynaud's phenomenon, oesophageal dysfunction, sclerodactyly, telangiectasia crest - calcinosis, raynaud's phenomenon, sclerodactyly, esophageal involvement, telangiectasia syndrome crest - calcinosis, raynaud's phenomenon, sclerodactyly, oesophageal involvement, telangiectasia syndrome crest syndrome (disorder) crest syndrome [disease/finding] crest syndromes crest variant of scleroderma crst syndrome lcssc limited cutaneous systemic scleroderma limited cutaneous systemic sclerosis lssc syndrome, crest
Orphanet	ORPHANET:90290 ORPHANET:220402
OMIM	OMIM:606472
DOID	DOID:0060218 DOID:1577
UMLS	C0206138
MeSH	D017675
SNOMED-CT	SNOMEDCT_US_2016_09_01:31848007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:19) C0011644 \| scleroderma \| 3 C0748540 \| limited scleroderma \| 1 C0010414 \| cryptococcosis \| 1 C0677607 \| hashimoto's thyroiditis \| 1 C0023434 \| small lymphocytic lymphoma \| 1 C0040147 \| thyroiditis \| 1 C0149931 \| migraine \| 1 C0152025 \| polyneuropathy \| 1 C0039446 \| telangiectasis \| 1 C0020542 \| pulmonary hypertension \| 1 C1619734 \| pulmonary arterial hypertension \| 1 C0917996 \| cerebral aneurysm \| 1 C1527383 \| morphea \| 1 C0024299 \| lymphoma \| 1 C0023434 \| lymphocytic lymphoma \| 1 C0042384 \| vasculitis \| 1 C0020538 \| hypertension \| 1 C0034735 \| raynaud's phenomenon \| 1 C1527336 \| sjogren syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) HLA-DRB1 \| 3123 \| ORPHANET CCR6 \| 1235 \| ORPHANET IRF5 \| 3663 \| ORPHANET KIAA0319L \| 79932 \| ORPHANET CTGF \| 1490 \| ORPHANET CAV1 \| 857 \| ORPHANET SS18L1 \| 26039 \| OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:40) 2091 \| FBL \| DISEASES 3458 \| IFNG \| DISEASES 7043 \| TGFB3 \| DISEASES 718 \| C3 \| DISEASES 10047 \| CST8 \| DISEASES 5199 \| CFP \| DISEASES 23225 \| NUP210 \| DISEASES 2065 \| ERBB3 \| DISEASES 3930 \| LBR \| DISEASES 8795 \| TNFRSF10B \| DISEASES 1437 \| CSF2 \| DISEASES 79841 \| AGBL2 \| DISEASES 7343 \| UBTF \| DISEASES 2147 \| F2 \| DISEASES 122664 \| TPPP2 \| DISEASES 8851 \| CDK5R1 \| DISEASES 8834 \| TMEM11 \| DISEASES 3355 \| HTR1F \| DISEASES 2200 \| FBN1 \| DISEASES 8338 \| HIST2H2AC \| DISEASES 2152 \| F3 \| DISEASES 1058 \| CENPA \| DISEASES 875 \| CBS \| DISEASES 80781 \| COL18A1 \| DISEASES 5079 \| PAX5 \| DISEASES 7150 \| TOP1 \| DISEASES 8349 \| HIST2H2BE \| DISEASES 8337 \| HIST2H2AA3 \| DISEASES 959 \| CD40LG \| DISEASES 1503 \| CTPS1 \| DISEASES 8718 \| TNFRSF25 \| DISEASES 9356 \| SLC22A6 \| DISEASES 1059 \| CENPB \| DISEASES 94 \| ACVRL1 \| DISEASES 4099 \| MAG \| DISEASES 2591 \| GALNT3 \| DISEASES 340351 \| AGBL3 \| DISEASES 1438 \| CSF2RA \| DISEASES 5270 \| SERPINE2 \| DISEASES 6625 \| SNRNP70 \| DISEASES
Locus	(Waiting for update.)

Disease ID	153
Disease	crest syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:16) HP:0011159 \| Epigastric auras HP:0003761 \| Calcinosis HP:0000214 \| Lip telangiectasia HP:0002206 \| Pulmonary fibrosis HP:0002092 \| Pulmonary arterial hypertension HP:0100585 \| Telangiectasia of the skin HP:0002015 \| Dysphagia HP:0030053 \| Stiff skin HP:0000969 \| Edema HP:0001211 \| Abnormality of the fingertips HP:0011838 \| Sclerodactyly HP:0002017 \| Nausea and vomiting HP:0200042 \| Skin ulcer HP:0100679 \| Lack of skin elasticity HP:0002960 \| Autoimmunity HP:0002094 \| Dyspnea
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0100324 \| Progressive systemic scleroderma \| 3 HP:0030880 \| Raynaud phenomenon \| 1 HP:0002633 \| Vasculitis \| 1 HP:0012344 \| Morphea \| 1 HP:0100646 \| Thyroiditis \| 1 HP:0001271 \| Polyneuropathy \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0005954 \| Pulmonary capillary hemangiomatosis \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0007461 \| Hemangiomatosis \| 1 HP:0000822 \| Hypertension \| 1 HP:0002665 \| Lymphoma \| 1 HP:0005306 \| Capillary hemangioma \| 1

Disease ID	153
Disease	crest syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:26) C2024883 \| angina C1963266 \| uveitis C1963248 \| telangiectasis C1963248 \| telangiectasia C1963220 \| pulmonary hypertension C1619734 \| pulmonary arterial hypertension C1619711 \| gastrointestinal telangiectasia C1027109 \| scleroderma C1000483 \| anemia C0919718 \| mitral valve calcification C0917996 \| cerebral aneurysms C0730345 \| microalbuminuria C0684249 \| lung carcinoma C0270862 \| hemiplegic migraine C0206062 \| interstitial lung disease C0152176 \| trochlear nerve palsy C0152025 \| polyneuropathy C0042165 \| anterior uveitis C0039446 \| telangiectasias C0030343 \| panuveitis C0017658 \| glomerulonephritis C0008312 \| primary biliary cirrhosis C0007766 \| intracranial aneurysms C0006664 \| calcinosis cutis C0006663 \| calcinosis C0006267 \| bronchiectasis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:7) C0011644 \| scleroderma \| 3 C0917996 \| cerebral aneurysms \| 1 C0152025 \| polyneuropathy \| 1 C1619734 \| pulmonary arterial hypertension \| 1 C0039446 \| telangiectasis \| 1 C0270862 \| hemiplegic migraine \| 1 C0020542 \| pulmonary hypertension \| 1

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

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

GWASdb Annotation(Total Genotypes:3)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
20	60741393	rs6061445	NM_198935,SS18L1	ENST00000421564,ENSG00000184402	ENST00000331758,ENSG00000184402	ENST00000370848,ENSG00000184402	ENST00000492466,ENSG00000184402	TFP.CEBPB	TFP.TRIM28	TFP.MYC	TFP.MAX	NA	chr20,60740001,60750000,chr20,60710001,60720000,63,Hi-C	chr20,60740001,60750000,chr16,59630001,59640000,9,Hi-C	chr20,60740001,60750000,chr20,60590001,60600000,6,Hi-C	chr20,60740001,60750000,chr22,31900001,31910000,7,Hi-C	NA	Aft1-primary,2.6771	Asg1-DBD-primary,1.5513	Ceh-22,6.3964	Cutl1_3494,9.2069	Cutl1_3494,1.3312	NA	NA	NA	NA	NA	NA	0.002	-0.668	-0.47	GE2	G	NA	NA	NA	NA
20	60749183	rs6142969	NM_198935,SS18L1	ENST00000421564,ENSG00000184402	ENST00000331758,ENSG00000184402	ENST00000370848,ENSG00000184402	ENST00000492466,ENSG00000184402	NA	NA	chr20,60740001,60750000,chr20,60710001,60720000,63,Hi-C	chr20,60740001,60750000,chr16,59630001,59640000,9,Hi-C	chr20,60740001,60750000,chr20,60590001,60600000,6,Hi-C	chr20,60740001,60750000,chr22,31900001,31910000,7,Hi-C	NA	Cbf1-primary,9.4711	Gat3-primary,1.8366	Gsm1-FL-primary,2.1303	Rdr1-DBD-primary,2.0295	Stp4-FL-primary,2.246	NA	NA	NA	NA	NA	NA	0.000	-0.960	-3.13	TF2	C	NA	NA	NA	NA	NA	NA	NA
20	60750857	rs6142970	NM_198935,SS18L1	ENST00000421564,ENSG00000184402	ENST00000331758,ENSG00000184402	ENST00000370848,ENSG00000184402	ENST00000492466,ENSG00000184402	NA	NA	chr20,60750001,60760000,chr7,65850001,65860000,26,Hi-C	chr20,60750001,60760000,chrX,99660001,99670000,5,Hi-C	NA	Homez_1063,1.6896	Mga1-primary,1.5005	Nrg1-primary,1.3472	LM11,3.1086	LM42,2.9388	NA	NA	NA	NA	NA	NA	0.001	-1.495	-1.81	TF2	C	NA	NA	NA	NA	NA	NA	NA	NA	Transcript

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0206138	methotrexate	D008727	1959/5/2	crest syndrome	MESH:D017675	therapeutic	17400583

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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