eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| crest syndrome | ||||
| Disease ID | 381 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C0206138 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:63) C0206754 | neuroendocrine tumor | 7 C0027819 | neuroblastoma | 7 C0008925 | cleft palate | 4 C0206754 | neuroendocrine tumors | 3 C0020538 | hypertension | 3 C0025202 | melanoma | 3 C1619734 | pulmonary arterial hypertension | 3 C0024299 | lymphoma | 3 C0031511 | pheochromocytomas | 2 C0025202 | malignant melanoma | 2 C0152021 | congenital heart disease | 2 C0018799 | heart disease | 2 C0031511 | pheochromocytoma | 2 C0029443 | osteomyelitis | 2 C0034735 | raynaud's phenomenon | 2 C0014858 | esophageal dysmotility | 1 C0042870 | vitamin d deficiency | 1 C0031511 | adrenal pheochromocytoma | 1 C0007282 | carotid stenosis | 1 C0031511 | chromaffin tumour | 1 C0027960 | naevus | 1 C0031046 | pericarditis | 1 C0035851 | root resorption | 1 C0042384 | vasculitis | 1 C0376545 | hematologic malignancies | 1 C0079744 | diffuse large b-cell lymphoma | 1 C0023434 | lymphocytic lymphoma | 1 C0376545 | hematological malignancies | 1 C0206093 | primitive neuroectodermal tumor | 1 C0677607 | hashimoto's thyroiditis | 1 C0403416 | crescentic glomerulonephritis | 1 C0002448 | ameloblastoma | 1 C0014848 | achalasia | 1 C0086692 | benign neoplasm | 1 C0040147 | thyroiditis | 1 C0017075 | ganglioneuroma | 1 C1527383 | morphea | 1 C0029456 | osteoporosis | 1 C0206754 | neuroendocrine tumour | 1 C0917996 | cerebral aneurysm | 1 C0019829 | hodgkin lymphoma | 1 C0011644 | scleroderma | 1 C0027873 | neuromyelitis optica | 1 C0030421 | paraganglioma | 1 C0023434 | small lymphocytic lymphoma | 1 C0010414 | cryptococcosis | 1 C1527336 | sjogren syndrome | 1 C0036202 | sarcoidosis | 1 C0018552 | hamartomatous | 1 C0012546 | diphtheria | 1 C0003486 | aortic aneurysms | 1 C0039446 | telangiectasis | 1 C0017658 | glomerulonephritis | 1 C0003486 | aortic aneurysm | 1 C0020542 | pulmonary hypertension | 1 C0042870 | vitamin d defic | 1 C0043008 | waardenburg syndrome | 1 C0152025 | polyneuropathy | 1 C0026769 | multiple sclerosis | 1 C0002726 | amyloidosis | 1 C0002871 | anemia | 1 C0149931 | migraine | 1 C0036421 | systemic sclerosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:23) 94 | ACVRL1 | 1.54 | DISEASES 340351 | AGBL3 | 2.966 | DISEASES 875 | CBS | 1.226 | DISEASES 959 | CD40LG | 2.57 | DISEASES 1058 | CENPA | 3.482 | DISEASES 1059 | CENPB | 5.248 | DISEASES 80781 | COL18A1 | 1.277 | DISEASES 1438 | CSF2RA | 3.354 | DISEASES 1503 | CTPS1 | 2.904 | DISEASES 2152 | F3 | 1.111 | DISEASES 2200 | FBN1 | 2.41 | DISEASES 2591 | GALNT3 | 2.746 | DISEASES 8337 | HIST2H2AA3 | 1.619 | DISEASES 8338 | HIST2H2AC | 1.619 | DISEASES 8349 | HIST2H2BE | 1.326 | DISEASES 3355 | HTR1F | 2.21 | DISEASES 4099 | MAG | 1.625 | DISEASES 5079 | PAX5 | 1.365 | DISEASES 5270 | SERPINE2 | 2.246 | DISEASES 9356 | SLC22A6 | 2.627 | DISEASES 6625 | SNRNP70 | 3.035 | DISEASES 8718 | TNFRSF25 | 1.666 | DISEASES 7150 | TOP1 | 3.659 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 381 |
|---|---|
| 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 C1619734 | pulmonary arterial hypertension | 1 C0270862 | hemiplegic migraine | 1 C0917996 | cerebral aneurysms | 1 C0039446 | telangiectasis | 1 C0020542 | pulmonary hypertension | 1 C0152025 | polyneuropathy | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0030053 | Stiff skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0100679 | Lack of skin elasticity | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0002206 | Pulmonary fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003761 | Calcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000214 | Lip telangiectasia | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0011838 | Sclerodactyly | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0030053 | Stiff skin | MP:0012157 | rostral body truncation | rostral part of body truncated; typically with the caudal portion of the body relatively normal |
| HP:0100679 | Lack of skin elasticity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 381 |
|---|---|
| Disease | crest syndrome |
| Case | (Waiting for update.) |