MCID: CRS005
MIFTS: 44

Crest Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Crest Syndrome

MalaCards integrated aliases for Crest Syndrome:

Name: Crest Syndrome 12 74 52 54 43 15 71
Calcinosis-Raynaud Phenomenon-Esophageal Involvement-Sclerodactyly-Telangiectasia Syndrome 52
Calcinosis - Raynaud Phenomenon - Esophageal Involvement - Sclerodactyly - Telangiectasia 52
Systemic Sclerosis, Susceptibility to 52
Scleroderma, Familial Progressive 52

Classifications:



Summaries for Crest Syndrome

NIH Rare Diseases : 52 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.

MalaCards based summary : Crest Syndrome, also known as calcinosis-raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome, is related to scleroderma, familial progressive and gastric antral vascular ectasia. An important gene associated with Crest Syndrome is CENPB (Centromere Protein B), and among its related pathways/superpathways are Cell Cycle, Mitotic and Signaling by Rho GTPases. The drugs Ropivacaine and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include skin, skeletal muscle and bone, and related phenotypes are nausea and vomiting and edema

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

Wikipedia : 74 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 208)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 33.7 TOP1 CENPB
2 gastric antral vascular ectasia 32.6 TOP1 CENPS
3 limited scleroderma 31.2 TOP1 SNRNP70 EXOSC10 CENPS CENPC CENPB
4 systemic scleroderma 31.0 TOP1 SNRNP70 H2AC18 EXOSC10 CENPB CD40LG
5 diffuse scleroderma 30.0 TOP1 SNRNP70 EXOSC10 CENPB
6 telangiectasis 29.8 TOP1 SNRNP70 H2AC18 EXOSC10 CENPS CENPB
7 primary biliary cirrhosis 29.7 SP100 NUP210 CENPB CD40LG
8 xerophthalmia 29.4 CENPB CD40LG
9 connective tissue disease 28.9 TOP1 SNRNP70 H2AC18 CENPC CENPB CD40LG
10 peripheral nervous system disease 28.8 SOX10 H2AC18 CD40LG
11 dyskinesia of esophagus 28.7 TOP1 SNRNP70 EXOSC10 CENPS CENPC CENPB
12 collagen disease 28.6 TOP1 SNRNP70 H2AC18 EXOSC10 CENPB CD40LG
13 rheumatic disease 28.6 TOP1 H2AC18 CENPB CENPA CD40LG
14 raynaud disease 28.6 TOP1 SNRNP70 CENPB CENPA CD40LG
15 calcinosis 10.6
16 raynaud phenomenon 10.5
17 pulmonary hypertension 10.4
18 heart block, congenital 10.3 SNRNP70 H2AC18
19 liver cirrhosis 10.3
20 spinocerebellar ataxia type 1 with axonal neuropathy 10.3 TOP1 H2AC18
21 facial hemiatrophy 10.2 SNRNP70 EXOSC10
22 syndromic x-linked intellectual disability cabezas type 10.2 TOP1 EXOSC10
23 autoimmune disease 10.1
24 vascular disease 10.1
25 idiopathic interstitial pneumonia 10.1
26 pulmonary fibrosis 10.1
27 vasculitis 10.1
28 uveitis 10.0
29 nodular regenerative hyperplasia 10.0
30 sjogren syndrome 10.0
31 interstitial lung disease 10.0
32 mixed connective tissue disease 10.0
33 dysphagia 10.0
34 cataract 31, multiple types 9.9 AGBL3 AGBL2
35 pulmonary hypertension, primary, 1 9.9
36 branchiootic syndrome 1 9.9
37 reynolds syndrome 9.9
38 keratoconjunctivitis sicca 9.9
39 thyroiditis 9.9
40 lung disease 9.9
41 western equine encephalitis 9.9 H2AC18 CD40LG
42 orchitis 9.9 H2AC18 CD40LG
43 schuurs-hoeijmakers syndrome 9.8 H2AC18 CD40LG
44 hirschsprung disease 1 9.8
45 migraine with or without aura 1 9.8
46 sarcoidosis 1 9.8
47 varicose veins 9.8
48 pulmonary venoocclusive disease 2, autosomal recessive 9.8
49 pulmonary venoocclusive disease 1, autosomal dominant 9.8
50 waardenburg syndrome, type 4a 9.8

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

Drugs & Therapeutics for Crest Syndrome

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
2 Anesthetics, Local Phase 4
3 Anesthetics Phase 4
4 Central Nervous System Depressants Phase 4
5
Bupivacaine Approved, Investigational Phase 2, Phase 3 38396-39-3, 2180-92-9 2474
6
Epinephrine Approved, Vet_approved 51-43-4 5816
7
Racepinephrine Approved 329-65-7 838
8
Nitric Oxide Approved 10102-43-9 145068
9
Calcium Approved, Nutraceutical 7440-70-2 271
10 Hormones
11 Calcium, Dietary
12 Epinephryl borate
13 Pharmaceutical Solutions
14 Analgesics, Opioid
15 Analgesics
16 Neurotransmitter Agents
17 Respiratory System Agents
18 Anti-Asthmatic Agents
19 Autonomic Agents
20 Free Radical Scavengers
21 Vasodilator Agents
22 Antioxidants
23 Protective Agents
24 Bronchodilator Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intérêt du TFP (Transversalis Fascia Plane) Bloc échoguidé Pour l'analgésie du prélèvement Osseux de crête Iliaque Completed NCT02398474 Phase 4 TFP block ropivacaine;ropivacaine infiltration of the iliac crest bone
2 Chemical Sympathectomy Following Peripheral Nerve Block With Liposomal Bupivacaine Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
3 Phase I Trial of High Dose Rate Brachytherapy Combined With Stereotactic Body Radiation Therapy for Intermediate Risk Prostate Cancer Patients Active, not recruiting NCT01655836 Phase 1
4 Comparative Clinical Study of the Prevention of the Reduction of Alveolar Crest by Alveoli Filling With an Injectable Calcium Phosphate After Extraction of Mandibular Molar or Pre Molar Unknown status NCT00740311
5 The Analgesic Efficacy of the Transversalis Fascia Plane Block in Iliac Crest Bone Graft Harvesting Completed NCT01133730 Active treatment;Placebo Arm
6 A Prospective Pilot Study on the Performance of The Plexur P™ Bone Void Filler Completed NCT00837473
7 Localized Effects of Photobiomodulation and Exogenous Nitric Oxide on CREST Patients Calcinosis Cutis & Raynaud Phenomenon Not yet recruiting NCT03972566 INOMAX

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:

40
Skin, Skeletal Muscle, Bone, Lung, Liver, Testes, Heart

Publications for Crest Syndrome

Articles related to Crest Syndrome:

(show top 50) (show all 508)
# Title Authors PMID Year
1
Eukaryotic expression of recombinant human centromere autoantigen and its use in a novel ELISA for diagnosis of CREST syndrome. 54 61
8198697 1994
2
Successful treatment of calcinosis cutis of fingertip in the setting of CREST syndrome with topical 20% sodium thiosulfate. 61
31709293 2019
3
Distal Phalanx Osteolysis and Subcutaneous Calcinosis in CREST Syndrome. 61
31764379 2019
4
Autoimmune associations in a Mexican cohort with primary biliary cholangitis. 61
30017344 2019
5
Chronic Anterior Uveitis in a Patient with CREST Syndrome. 61
30691950 2019
6
Botulinum toxin for treatment of Raynaud phenomenon in CREST syndrome. 61
30677800 2018
7
A Rare Cause of Leg Ulcer: Calcinosis Cutis as a Part of CREST Syndrome. 61
30270692 2018
8
Imaging studies of kleptomania in a middle-aged woman with obsessive-compulsive disorder: a case report. 61
29987861 2018
9
Dermoscopic patterns of filiform papillae of the tongue in patients with and without connective tissue autoimmune diseases. 61
29774953 2018
10
Retinal vasculitis associated with CREST syndrome. 61
29780934 2018
11
Orbital Inflammation as a Presenting Sign for CREST Syndrome. 61
28990976 2018
12
Refractory Hepatic Hydrothorax: A Rare Complication of Systemic Sclerosis and Presinusoidal Portal Hypertension. 61
29854501 2018
13
Cardio-cephalic neural crest syndrome: A novel hypothesis of vascular neurocristopathy. 61
28814167 2017
14
Cutaneous calcinosis in a patient with limited scleroderma: CREST Syndrome. 61
29308290 2017
15
Cutaneous metastasis to the scalp as the primary presentation of colorectal adenocarcinoma. 61
29447644 2017
16
Upper gastrointestinal bleeding (watermelon stomach) in a patient with limited scleroderma (CREST syndrome). 61
27353193 2017
17
Pulmonary Capillary Hemangiomatosis Associated with CREST Syndrome: A Challenge of Diagnosis and Treatment. 61
29067967 2017
18
Coexistent Primary Biliary Cholangitis with CREST Syndrome (Reynolds Syndrome). 61
28602872 2017
19
Esophagocardioplasty, vagotomy-antrectomy and Roux-en-Y gastrojejunostomy: indication in cases with severe esophageal motor disfunction. 61
29040484 2017
20
CREST Syndrome: Clinical Expression of the Disease. 61
28742726 2017
21
Intravenous sodium thiosulfate for treating tumoral calcinosis associated with systemic disorders: Report of four cases. 61
27955821 2017
22
CREST Calcinosis Affecting the Lumbar and Cervical Spine and the Use of Minimally-Invasive Surgery. 61
28491486 2017
23
Complications in Placement of a Glaucoma Drainage Device in a Patient With CREST Syndrome. 61
27811572 2017
24
Evidence for the Use of Epoprostenol to Treat Raynaud's Phenomenon With or Without Digital Ulcers. 61
27465880 2016
25
Worsening of calcinosis cutis with teriparatide treatment in two osteoporotic patients. 61
26992073 2016
26
The Risk of Vocal Fold Atrophy after Serial Corticosteroid Injections of the Vocal Fold. 61
26620260 2016
27
Comparison of Screening Dilution and Automated Reading for Antinuclear Antibody Detection on HEP2 Cells in the Monitoring of Connective Tissue Diseases. 61
27225012 2016
28
Different contributions of angiostatin and endostatin in angiogenesis impairment in systemic sclerosis: a cohort study. 61
26885625 2016
29
Reversed shunting in CREST syndrome. 61
26678219 2016
30
Assessment and Surgical Treatment of Calcinosis of the Shoulder Associated with CREST Syndrome. 61
27437158 2016
31
A case of a generalized symptomatic calcinosis in systemic sclerosis. 61
27833984 2016
32
Crest Syndrome. 61
27072730 2016
33
Autoimmune liver disease and concomitant extrahepatic autoimmune disease. 61
26148248 2015
34
Osteonecrosis of multiple joints in a patient with limited scleroderma/CREST syndrome. 61
25807102 2015
35
Tinea Incognita in a Patient with Crest Syndrome: Case Report. 61
26476904 2015
36
Amyloidosis of the Breast: Three Different and Unusual Presentations of a Rare Entity. 61
26513367 2015
37
Dehydrated Amniotic Membrane Allograft for Treatment of Chronic Leg Ulcers in Patients With Multiple Comorbidities: A Case Series. 61
27104144 2014
38
Cryoglobulinemic vasculitis in a patient with CREST syndrome. 61
24852904 2014
39
A case of acute autoimmune hepatitis presenting after incomplete-type CREST syndrome and chronic thyroiditis. 61
25195969 2014
40
Oral medicine case book 62: CREST syndrome. 61
26548213 2014
41
Pathophysiology and recent findings of primary biliary cirrhosis complicated by systemic sclerosis. 61
24308674 2014
42
Dystrophic calcifications and Raynaud's phenomenon in an eight-year old girl. 61
24839783 2014
43
Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report. 61
25393970 2014
44
Telangiectasis in CREST syndrome and systemic sclerosis: correlation of clinical and pathological features with response to pulsed dye laser treatment. 61
23494102 2014
45
[The road to early diagnosis of systemic sclerosis : the evolution of diagnostic and classification criteria in the past decades]. 61
24337197 2013
46
Clinical significance of autoantibodies to the pericentromeric heterochromatin protein 1a protein. 61
24184038 2013
47
Surgical management of digital calcinosis in CREST syndrome. 61
24142114 2013
48
Surgical treatment of extensive subcutaneous calcification of the forearm in CREST syndrome. 61
23849984 2013
49
[Hyperostosis frontalis interna and epilepsy]. 61
24303658 2013
50
Scleroderma and IgG4-related disease. 61
23563250 2013

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 nucleus GO:0005634 10.23 TOP1 SP100 SOX10 SNRNP70 H2AC18 EXOSC10
2 nucleoplasm GO:0005654 10.14 TOP1 SP100 SOX10 SNRNP70 EXOSC10 CENPS
3 chromosome, centromeric region GO:0000775 9.67 CENPS CENPC CENPB CENPA
4 condensed chromosome kinetochore GO:0000777 9.62 CENPS CENPN CENPC CENPA
5 condensed nuclear chromosome kinetochore GO:0000778 9.43 CENPC CENPA
6 condensed nuclear chromosome, centromeric region GO:0000780 9.43 CENPC CENPB CENPA
7 kinetochore GO:0000776 9.35 CENPS CENPQ CENPN CENPC CENPA
8 nuclear pericentric heterochromatin GO:0031618 9.33 CENPC CENPB CENPA
9 chromosome GO:0005694 9.23 TOP1 H2AC18 CENPS CENPQ CENPN CENPC

Biological processes related to Crest Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome segregation GO:0007059 9.43 TOP1 CENPN CENPC
2 kinetochore assembly GO:0051382 9.26 CENPS CENPN CENPC CENPA
3 protein side chain deglutamylation GO:0035610 9.16 AGBL3 AGBL2
4 CENP-A containing nucleosome assembly GO:0034080 9.02 CENPS CENPQ CENPN CENPC CENPA

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.76 TOP1 SP100 SOX10 H2AC18 CENPS CENPC
2 metallocarboxypeptidase activity GO:0004181 9.26 AGBL3 AGBL2
3 chromatin binding GO:0003682 9.02 TOP1 SOX10 CENPS CENPB CENPA
4 centromeric DNA binding GO:0019237 8.96 CENPC CENPB

Sources for Crest Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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