MCID: CRS005
MIFTS: 43

Crest Syndrome

Categories: Rare diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Crest Syndrome

MalaCards integrated aliases for Crest Syndrome:

Name: Crest Syndrome 12 72 49 51 41 14 69
Calcinosis-Raynaud Phenomenon-Esophageal Involvement-Sclerodactyly-Telangiectasia Syndrome 49
Calcinosis - Raynaud Phenomenon - Esophageal Involvement - Sclerodactyly - Telangiectasia 49
Systemic Sclerosis, Susceptibility to 49
Scleroderma, Familial Progressive 49

Classifications:



Summaries for Crest Syndrome

NIH Rare Diseases : 49 CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease. (C) - Calcinosis: calcium deposits in the connective tissues (R) - Raynaud's phenomenon: where the hands and feet turn white and cold and then blue, in response to cold or anxiety (E) - Esophageal dysfunction resulting in swallowing difficulty (S) - Sclerodactyly: thick and tight skin on the fingers, caused by an excess of collagen deposits within skin layers. (T) - Telangiectasia: small red spots on the hands and face that are caused by the swelling of tiny blood vessels. At least two of these five features need to be present to be diagnosed with the disease. CREST syndrome is believed to be an autoimmune disorder, where the immune system appears to stimulate the production of too much collagen which builds up in the skin and internal organs, impairing their function. There is no cure. Current treatment focuses on relieving signs and symptoms and preventing complications. Last updated: 1/25/2018

MalaCards based summary : Crest Syndrome, also known as calcinosis-raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome, is related to limited scleroderma and systemic scleroderma, and has symptoms including lip telangiectasia, edema and abnormality of the fingertips. An important gene associated with Crest Syndrome is CENPB (Centromere Protein B). The drugs Bupivacaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.

Wikipedia : 72 CREST syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc) is a multisystem... more...

Related Diseases for Crest Syndrome

Diseases related to Crest Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 limited scleroderma 31.4 CENPB TOP1 UBTF
2 systemic scleroderma 30.9 CENPB TOP1
3 primary biliary cirrhosis 29.3 CENPB LBR
4 connective tissue disease 29.0 CENPB TOP1
5 scleroderma, familial progressive 11.7
6 reynolds syndrome 11.1
7 gastric antral vascular ectasia 10.8
8 calcinosis 10.1
9 collagen disease 9.9 CENPB TOP1
10 rheumatic disease 9.9 CENPB TOP1
11 dyskinesia of esophagus 9.9 TOP1 UBTF
12 biliary cirrhosis, primary, 1 9.9
13 telangiectasis 9.9
14 nodular regenerative hyperplasia 9.9
15 pulmonary hypertension 9.8
16 diffuse scleroderma 9.8
17 branchiootic syndrome 1 9.7
18 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
19 esophagitis 9.7
20 ectropion 9.7
21 migraine with or without aura 1 9.5
22 porphyria cutanea tarda 9.5
23 pulmonary hypertension, primary, 1 9.5
24 myasthenia gravis 9.5
25 myelofibrosis 9.5
26 abcd syndrome 9.5
27 episodic pain syndrome, familial, 1 9.5
28 autoimmune hepatitis 9.5
29 hepatitis 9.5
30 osteonecrosis 9.5
31 lymphoma 9.5
32 cryptococcosis 9.5
33 central retinal artery occlusion 9.5
34 uveitis 9.5
35 porphyria 9.5
36 sick sinus syndrome 9.5
37 polyneuropathy 9.5
38 cervicitis 9.5
39 chondroma 9.5
40 myelitis 9.5
41 ischemia 9.5
42 cerebritis 9.5
43 mixed connective tissue disease 9.5
44 retinitis 9.5
45 intestinal pseudo-obstruction 9.5
46 pneumonia 9.5
47 bilateral breast cancer 9.5
48 thyroiditis 9.5
49 neuronitis 9.5
50 retinal artery occlusion 9.5

Graphical network of the top 20 diseases related to Crest Syndrome:



Diseases related to Crest Syndrome

Symptoms & Phenotypes for Crest Syndrome

Human phenotypes related to Crest Syndrome:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 lip telangiectasia 31 frequent (33%) HP:0000214
2 edema 31 hallmark (90%) HP:0000969
3 abnormality of the fingertips 31 hallmark (90%) HP:0001211
4 dysphagia 31 frequent (33%) HP:0002015
5 nausea and vomiting 31 hallmark (90%) HP:0002017
6 pulmonary arterial hypertension 31 occasional (7.5%) HP:0002092
7 dyspnea 31 frequent (33%) HP:0002094
8 pulmonary fibrosis 31 occasional (7.5%) HP:0002206
9 autoimmunity 31 hallmark (90%) HP:0002960
10 calcinosis 31 hallmark (90%) HP:0003761
11 epigastric auras 31 hallmark (90%) HP:0011159
12 sclerodactyly 31 hallmark (90%) HP:0011838
13 stiff skin 31 hallmark (90%) HP:0030053
14 telangiectasia of the skin 31 frequent (33%) HP:0100585
15 lack of skin elasticity 31 hallmark (90%) HP:0100679
16 skin ulcer 31 frequent (33%) HP:0200042

GenomeRNAi Phenotypes related to Crest Syndrome according to GeneCards Suite gene sharing:

25 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.77 CSF2RA UBTF AGBL3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.77 CSF2RA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.77 CSF2RA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.77 CSF2RA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.77 CSF2RA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.77 CSF2RA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.77 CSF2RA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.77 CSF2RA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.77 UBTF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.77 UBTF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.77 UBTF
12 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.77 CSF2RA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.77 CSF2RA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.77 UBTF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.77 CSF2RA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.77 UBTF
17 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.77 AGBL3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.77 CSF2RA AGBL3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.77 UBTF
20 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.77 CSF2RA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.77 AGBL3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.77 AGBL3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.77 UBTF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.77 CSF2RA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.77 AGBL3

Drugs & Therapeutics for Crest Syndrome

Drugs for Crest Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 2, Phase 3 38396-39-3, 2180-92-9 2474
2 Anesthetics Phase 2, Phase 3
3 Anesthetics, Local Phase 2, Phase 3
4 Central Nervous System Depressants Phase 2, Phase 3
5 Peripheral Nervous System Agents Phase 2, Phase 3
6
Epinephrine Approved, Vet_approved 51-43-4 5816
7 Racepinephrine Approved 329-65-7
8
Ropivacaine Approved 84057-95-4 175805 71273
9 Analgesics
10 Epinephryl borate
11 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Exparel as a Nerve Block for Severe Hand Pain Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
2 Transversalis Fascial Plane Nerve Block in Iliac Crest Bone Graft Completed NCT01133730 Active treatment;Placebo Arm
3 Systemic Sclerosis Clinical and Biomarker Study Withdrawn NCT02531009

Search NIH Clinical Center for Crest Syndrome

Cochrane evidence based reviews: crest syndrome

Genetic Tests for Crest Syndrome

Anatomical Context for Crest Syndrome

MalaCards organs/tissues related to Crest Syndrome:

38
Skin, Lung, Kidney, Skeletal Muscle, Bone, Liver, Breast

Publications for Crest Syndrome

Articles related to Crest Syndrome:

(show top 50) (show all 68)
# Title Authors Year
1
Pulmonary Capillary Hemangiomatosis Associated with CREST Syndrome: A Challenge of Diagnosis and Treatment. ( 29067967 )
2017
2
Cutaneous calcinosis in a patient with limited scleroderma: CREST Syndrome. ( 29308290 )
2017
3
Orbital Inflammation as a Presenting Sign for CREST Syndrome. ( 28990976 )
2017
4
Systemic Sclerosis (CREST syndrome) ( 28613625 )
2017
5
Coexistent Primary Biliary Cholangitis with CREST Syndrome (Reynolds Syndrome). ( 28602872 )
2017
6
Cardio-cephalic neural crest syndrome: A novel hypothesis of vascular neurocristopathy. ( 28814167 )
2017
7
CREST Syndrome: Clinical Expression of the Disease. ( 28742726 )
2017
8
Assessment and Surgical Treatment of Calcinosis of the Shoulder Associated with CREST Syndrome. ( 27437158 )
2016
9
Crest Syndrome. ( 27072730 )
2016
10
Upper gastrointestinal bleeding (watermelon stomach) in a patient with limited scleroderma (CREST syndrome). ( 27353193 )
2016
11
Complications in Placement of a Glaucoma Drainage Device in a Patient With CREST Syndrome. ( 27811572 )
2016
12
Osteonecrosis of Multiple Joints in a Patient With Limited Scleroderma/CREST Syndrome. ( 25807102 )
2015
13
Reversed shunting in CREST syndrome. ( 26678219 )
2015
14
Tinea Incognita in a Patient with Crest Syndrome: Case Report. ( 26476904 )
2015
15
Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report. ( 25393970 )
2014
16
Cryoglobulinemic vasculitis in a patient with CREST syndrome. ( 24852904 )
2014
17
A case of acute autoimmune hepatitis presenting after incomplete-type CREST syndrome and chronic thyroiditis. ( 25195969 )
2014
18
Telangiectasis in CREST syndrome and systemic sclerosis: correlation of clinical and pathological features with response to pulsed dye laser treatment. ( 23494102 )
2014
19
Oral medicine case book 62: CREST syndrome. ( 26548213 )
2014
20
Surgical management of digital calcinosis in CREST syndrome. ( 24142114 )
2013
21
Surgical treatment of extensive subcutaneous calcification of the forearm in CREST syndrome. ( 23849984 )
2013
22
Peripheral phenomena in a woman with calcinosis, raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome-associated pulmonary hypertension. ( 22392867 )
2012
23
Primary cutaneous cryptococcosis in a patient with CREST syndrome. ( 22381693 )
2012
24
CREST syndrome with pulmonary arterial hypertension. ( 22333384 )
2012
25
Anti-myelin-associated glycoprotein polyneuropathy coexistent with CREST syndrome. ( 22387650 )
2012
26
Coronary artery abnormalities in CREST syndrome revealed by cardiovascular magnetic resonance imaging. ( 21474271 )
2011
27
Livedo reticularis and bowel ischemia after carbon dioxide arteriography in a patient with CREST syndrome. ( 21277800 )
2011
28
Partial breast irradiation in a patient with bilateral breast cancers and CREST syndrome. ( 21349774 )
2011
29
Scleroderma and CREST syndrome: a case report in dentistry. ( 21956352 )
2011
30
Non-healing leg ulcers in a patient with dystrophic calcification and crest syndrome: a challenging clinical case. ( 21827631 )
2011
31
Small lymphocytic lymphoma in a patient with CREST syndrome. ( 21982887 )
2011
32
Gastric variceal bleeding uncovering a rare association of CREST syndrome, primary biliary cirrhosis, nodular regenerative hyperplasia and pulmonary hypertension. ( 20485183 )
2010
33
Pulmonary capillary hemangiomatosis associated with CREST syndrome: a case report and review of the literature. ( 20453487 )
2010
34
Multiple cerebral aneurysms in a patient with CREST syndrome. ( 20510616 )
2010
35
Sporadic hemiplegic migraine and CREST syndrome. ( 20130953 )
2010
36
Orbital bone and soft tissue calcification in CREST syndrome. ( 20584022 )
2010
37
Surgical debridement of painful fingertip calcinosis cutis in CREST syndrome. ( 19221282 )
2009
38
Acute central retinal artery occlusion presenting as CREST syndrome: a case report. ( 19123948 )
2009
39
[A case of anti-AQP4 antibody-positive recurrent myelitis overlapped with autoimmune disorders including incomplete CREST syndrome revealed multiple discontinuous cord lesions]. ( 19348177 )
2009
40
Juxtafoveolar telangiectasis associated with CREST syndrome. ( 18716957 )
2008
41
Tumoral calcinosis in the cervical spine in a patient with CREST syndrome. A case report. ( 16391265 )
2006
42
Congenital iris ectropion and glaucoma associated with intestinal neuronal dysplasia: a manifestation of a neural crest syndrome. ( 17030723 )
2006
43
Soft-tissue infection and underlying calcinosis of CREST syndrome. ( 17060652 )
2006
44
Treatment of cutaneous calcinosis in CREST syndrome by extracorporeal shock wave lithotripsy. ( 16227105 )
2005
45
A case of porphyria cutanea tarda in association with idiopathic myelofibrosis and CREST syndrome. ( 11167703 )
2001
46
Myasthenia gravis associated with limited scleroderma (CREST syndrome) ( 10701901 )
2000
47
Granulomatous anterior uveitis in a patient with CREST syndrome. ( 11120581 )
2000
48
Immunohistochemical expression of transforming growth factor beta3 in calcinosis in a patient with systemic sclerosis and CREST syndrome. ( 11069531 )
2000
49
Kinetics of anti-fibrillin-1 autoantibodies in MCTD and CREST syndrome. ( 10756089 )
2000
50
Concomitant spondylarthropathy and CREST syndrome. ( 10609082 )
1999

Variations for Crest Syndrome

Expression for Crest Syndrome

Search GEO for disease gene expression data for Crest Syndrome.

Pathways for Crest Syndrome

GO Terms for Crest Syndrome

Cellular components related to Crest Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibrillar center GO:0001650 8.62 TOP1 UBTF

Molecular functions related to Crest Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.35 CENPB LBR SOX10 TOP1 UBTF
2 chromatin binding GO:0003682 8.92 CENPB SOX10 TOP1 UBTF

Sources for Crest Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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