MCID: RYN003
MIFTS: 44

Reynolds Syndrome malady

Genetic diseases, Rare diseases, Liver diseases, Nephrological diseases, Bone diseases, Skin diseases categories

Summaries for Reynolds Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. scleroderma is mainly limited to crest syndrome, which includes calcinosis cutis (calcium deposits in the skin), raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodactyly, and telangiectasis. diffuse scleroderma, or scleroderma that affects blood vessels, internal organs, and the skin, has also been reported. although generally considered an autoimmune disorder, other causes have been suggested, including genetics. reynolds syndrome may be caused by mutations in the lbr gene and inherited in an autosomal dominant fashion. last updated: 7/25/2011

MalaCards: Reynolds Syndrome, also known as primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia, is related to primary biliary cirrhosis and limited scleroderma, and has symptoms including arthritis/synovitis/synovial proliferation, periarticular tissue anomaly/extraarticular calcifications and fever/chilling. An important gene associated with Reynolds Syndrome is LBR (lamin B receptor), and among its related pathways are Gastric cancer network 2 and Apoptosis and Autophagy. The compound ionomycin have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye, and related mouse phenotypes are respiratory system and craniofacial.

Wikipedia:66 Reynolds syndrome is a rare secondary laminopathy, consisting of the combination of primary biliary... more...

Description from OMIM:48 613471

Aliases & Classifications for Reynolds Syndrome

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44NIH Rare Diseases, 23GTR, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
reynolds syndrome:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

reynolds syndrome 44 23 48 50
primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia 44
primary biliary cirrhosis and systemic scleroderma 50


External Ids:

OMIM48 613471
ICD10 via Orphanet27 K74.5, L94.0

Related Diseases for Reynolds Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Reynolds Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1primary biliary cirrhosis30.1SUN2, LBR
2limited scleroderma10.1
3breast cancer10.1
4pseudoainhum10.1
5pelger-huet anomaly10.0LMNB2, LBR
6emery-dreifuss muscular dystrophy10.0LBR, LMNB2
7chronic fatigue syndrome10.0SUN2, LBR
8muscular dystrophy10.0LMNB1, SUN2
9progeria10.0ZMPSTE24, LMNB1
10lipodystrophy9.9ZMPSTE24, LMNB2, LMNB1

Graphical network of diseases related to Reynolds Syndrome:



Diseases related to reynolds syndrome

Symptoms for Reynolds Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

613471

Clinical features from OMIM:

613471

Symptoms:

50 (show all 26)
  • arthritis/synovitis/synovial proliferation
  • periarticular tissue anomaly/extraarticular calcifications
  • fever/chilling
  • lichen
  • ascitis
  • cirrhosis
  • hepatitis/icterus/cholestasis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • encephalitis
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • myalgia/muscular pain
  • asthenia/fatigue/weakness
  • xerophthalmia/dry eyes
  • mouth dryness/xerostomia
  • chronic skin infection/ulcerations/ulcers/cancrum
  • cutaneous rash
  • tight skin/lack of elasticity
  • dermal/subcutaneous infiltration/induration
  • irregular/in bands/reticular skin hyperpigmentation
  • telangiectasiae of the skin
  • telangiectasiae of mucosae
  • pruritus/itching

Drugs & Therapeutics for Reynolds Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Reynolds Syndrome

Genetic Tests for Reynolds Syndrome

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23GTR
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Genetic tests related to Reynolds Syndrome:

id Genetic test Affiliating Genes
1 Reynolds Syndrome23

Anatomical Context for Reynolds Syndrome

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34MalaCards
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MalaCards organs/tissues related to Reynolds Syndrome:

34
Skin, Liver, Eye, Bone, Lung, Breast

Animal Models for Reynolds Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Reynolds Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7LMNB2, LMNB1, LBR
2MP:00053828.3ZMPSTE24, LMNB2, LMNB1, LBR
3MP:00107718.2ZMPSTE24, LMNB2, LMNB1, LBR
4MP:00053698.1ZMPSTE24, LMNB2, LMNB1, SUN2
5MP:00053768.1ZMPSTE24, LMNB2, SUN2, LBR
6MP:00053848.1LBR, LMNB1, LMNB2, ZMPSTE24
7MP:00053787.7LBR, SUN2, LMNB1, LMNB2, ZMPSTE24
8MP:00107687.6LBR, SUN2, LMNB1, LMNB2, ZMPSTE24

Publications for Reynolds Syndrome

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53PubMed
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Articles related to Reynolds Syndrome:

idTitleAuthorsYear
1
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. (20522425)
2010
2
Is Reynolds syndrome a genetic laminopathy? (20800400)
2010
3
Pseudoainhum of all fingers associated with Reynolds' syndrome and breast cancer: report of a case and review of the literature. (11174422)
2001

Variations for Reynolds Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Reynolds Syndrome:

65
id Symbol AA change Variation ID SNP ID
1LBRp.Arg372CysVAR_063811

Clinvar genetic disease variations for Reynolds Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1LBRNM_194442.2(LBR): c.1114C> T (p.Arg372Cys)single nucleotide variantPathogenicrs200180113GRCh37Chr 1, 225599113: 225599113

Expression for genes affiliated with Reynolds Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Reynolds Syndrome

Search GEO for disease gene expression data for Reynolds Syndrome.

Pathways for genes affiliated with Reynolds Syndrome

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Sources:
51PathCards, 39NCBI BioSystems Database, 5Cell Signaling Technology, 54QIAGEN, 56Reactome, 61Thomson Reuters, 13EMD Millipore, 31KEGG
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Pathways related to Reynolds Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5LMNB2, LBR
29.4LMNB1, LMNB2
3
Show member pathways
9.4LMNB2, LMNB1
4
Show member pathways
Apoptosis and survival TNFR1 signaling pathway61
TWEAK Signaling Pathway39
Apoptosis Modulation by HSP7039
HIV-1 Nef- Negative effector of Fas and TNF-alpha39
9.4LMNB1, LMNB2
5
Show member pathways
FAS pathway and Stress induction of HSP regulation39
Apoptosis and survival FAS signaling cascades61
Caspase cascade in apoptosis39
9.4LMNB1, LMNB2
6
Show member pathways
9.4LMNB2, LMNB1
79.4LMNB2, LMNB1
8
Show member pathways
9.3LMNB1, SUN2
9
Show member pathways
9.3LMNB1, SUN2
10
Show member pathways
Cholesterol biosynthesis39
lanosterol biosynthesis39
zymosterol biosynthesis39
mevalonate pathway I39
epoxysqualene biosynthesis39
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)39
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)39
trans, trans-farnesyl diphosphate biosynthesis39
cholesterol biosynthesis I39
cholesterol biosynthesis III (via desmosterol)39
geranylgeranyldiphosphate biosynthesis39
9.2ZMPSTE24, LBR

Compounds for genes affiliated with Reynolds Syndrome

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46Novoseek
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Compounds related to Reynolds Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ionomycin469.5LMNB1, LBR

GO Terms for genes affiliated with Reynolds Syndrome

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17Gene Ontology
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Cellular components related to Reynolds Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear membraneGO:0319658.9LMNB1, SUN2, LBR
2nuclear envelopeGO:0056358.6LBR, SUN2, LMNB1
3nuclear inner membraneGO:0056377.9ZMPSTE24, LMNB2, LMNB1, SUN2

Biological processes related to Reynolds Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear envelope organizationGO:0069989.0ZMPSTE24, SUN2

Molecular functions related to Reynolds Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.4LMNB2, LMNB1
2lamin bindingGO:0055219.1SUN2, LBR

Products for genes affiliated with Reynolds Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Reynolds Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet