MCID: RYN003
MIFTS: 41

Reynolds Syndrome malady

Liver diseases, Nephrological diseases, Bone diseases, Skin diseases categories

Summaries for Reynolds Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 lung, and related mouse phenotypes are craniofacial and cellular.

Wikipedia:63 Reynolds syndrome is a rare secondary laminopathy, consisting of the combination of primary biliary... more...

Description from OMIM:46 613471

Aliases & Classifications for Reynolds Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
reynolds syndrome:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

reynolds syndrome 42 22 46 48
primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia 42
primary biliary cirrhosis and systemic scleroderma 48


External Ids:

OMIM46 613471
ICD10 via Orphanet26 K74.5, L94.0

Related Diseases for Reynolds Syndrome

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17GeneCards, 18GeneDecks
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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 cirrhosis30.0SUN2, LBR
2limited scleroderma10.1
3breast cancer10.1
4emery-dreifuss muscular dystrophy10.0LBR, LMNB2
5pelger-huet anomaly10.0LBR, LMNB2
6chronic fatigue syndrome10.0SUN2, LBR
7progeria10.0LMNB1, ZMPSTE24
8muscular dystrophy10.0LMNB1, SUN2
9lipodystrophy10.0ZMPSTE24, LMNB1, LMNB2

Graphical network of diseases related to Reynolds Syndrome:



Diseases related to reynolds syndrome

Clinical Features for Reynolds Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

613471

Clinical synopsis from OMIM:

613471

Symptoms:

48 (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
  • telangiectasiae of mucosae
  • 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
  • pruritus/itching

Drugs & Therapeutics for Reynolds Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Reynolds Syndrome

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22GTR
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Genetic tests related to Reynolds Syndrome:

id Genetic test Affiliating Genes
1 Reynolds Syndrome22

Anatomical Context for Reynolds Syndrome

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32MalaCards
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MalaCards organs/tissues related to Reynolds Syndrome:

32
Skin, Liver, Lung, Bone, Eye

Animal Models for Reynolds Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Reynolds Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.3LMNB1, LBR, ZMPSTE24, LMNB2
2MP:00053848.2LBR, ZMPSTE24, LMNB1, LMNB2
3MP:00107718.1LMNB1, LBR, LMNB2, ZMPSTE24
4MP:00053698.0LMNB1, LMNB2, SUN2, ZMPSTE24
5MP:00053787.6SUN2, LBR, ZMPSTE24, LMNB1, LMNB2
6MP:00107687.2SUN2, LMNB2, LMNB1, ZMPSTE24, LBR

Publications for Reynolds Syndrome

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Genetic Variations for Reynolds Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Reynolds Syndrome:

62
id Symbol AA change Variation ID SNP ID
1LBRp.Arg372CysVAR_063811

Expression for genes affiliated with Reynolds Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Reynolds Syndrome

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Pathways for genes affiliated with Reynolds Syndrome

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Sources:
37NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 51QIAGEN, 53Reactome
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Pathways related to Reynolds Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5LMNB2, LBR
29.1LMNB2, LMNB1
3
Apoptosis and survival Caspase cascade
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9.1LMNB2, LMNB1
4
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9.1LMNB1, LMNB2
5
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9.1LMNB2, LMNB1
6
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9.1LMNB2, LMNB1
7
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9.0SUN2, LMNB1

Compounds for genes affiliated with Reynolds Syndrome

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44Novoseek
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Compounds related to Reynolds Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ionomycin449.2LMNB1, LBR

GO Terms for genes affiliated with Reynolds Syndrome

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16Gene Ontology
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Cellular components related to Reynolds Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear membraneGO:0319659.4SUN2, LBR
2nuclear envelopeGO:0056358.3SUN2, LMNB1, LBR
3nuclear inner membraneGO:0056377.9SUN2, LMNB2, LMNB1, ZMPSTE24

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

idNameGO IDScoreTop Affiliating Genes
1nuclear envelope organizationGO:0069989.3SUN2, ZMPSTE24

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1LMNB2, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet