MCID: RYN003
MIFTS: 36

Reynolds Syndrome malady

Nephrological, Bone categories

Summaries for Reynolds Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia, respiratory distress/dyspnea/respiratory failure/lung volume reduction and encephalitis. 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 and breast, and related mouse phenotypes are craniofacial and cellular.

Wikipedia:64 Reynolds syndrome is a rare secondary laminopathy, consisting of the combination of primary biliary... more...

Description from OMIM:47 613471

Aliases & Classifications for Reynolds Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological, Bone


Characteristics (Orphanet epidemiological data):

49
reynolds syndrome:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

reynolds syndrome 43 22 47 49
primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia 43
primary biliary cirrhosis and systemic scleroderma 49


External Ids:

OMIM47 613471
ICD10 via Orphanet26 K74.5, L94.0

Related Diseases for Reynolds Syndrome

Sources:
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 cirrhosis30.1SUN2, LBR
2limited scleroderma10.1
3n syndrome10.1
4pseudoainhum10.1
5emery-dreifuss muscular dystrophy10.0LMNB2, LBR
6pelger-huet anomaly10.0LBR, LMNB2
7chronic fatigue syndrome10.0SUN2, LBR
8progeria10.0LMNB1, ZMPSTE24
9muscular dystrophy10.0SUN2, LMNB1
10lipodystrophy10.0ZMPSTE24, LMNB1, LMNB2

Graphical network of diseases related to Reynolds Syndrome:



Diseases related to reynolds syndrome

Clinical Features for Reynolds Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

613471

Clinical synopsis from OMIM:

613471

Symptoms:

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

Drugs & Therapeutics for Reynolds Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Reynolds Syndrome

Drug clinical trials:

Search ClinicalTrials for Reynolds Syndrome

Search NIH Clinical Center for Reynolds Syndrome

Search CenterWatch for Reynolds Syndrome

Genetic Tests for Reynolds Syndrome

Sources:
22GTR
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Genetic tests related to Reynolds Syndrome:

id Genetic test Affiliating Genes
1 Reynolds Syndrome22

Anatomical Context for Reynolds Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Reynolds Syndrome:

33
Skin, Breast

Animal Models for Reynolds Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Reynolds Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.3LMNB2, LMNB1, ZMPSTE24, LBR
2MP:00053848.2LMNB2, LMNB1, ZMPSTE24, LBR
3MP:00107718.1LBR, ZMPSTE24, LMNB1, LMNB2
4MP:00053698.0SUN2, LMNB2, LMNB1, ZMPSTE24
5MP:00053787.6LBR, ZMPSTE24, LMNB1, LMNB2, SUN2
6MP:00107687.2LBR, ZMPSTE24, LMNB1, LMNB2, SUN2

Publications for Reynolds Syndrome

Sources:
51PubMed
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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

Genetic Variations for Reynolds Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Reynolds Syndrome:

63
id Symbol AA change Variation SNP ID
1LBRp.Arg372CysVAR_063811

Expression for genes affiliated with Reynolds Syndrome

Sources:
1BioGPS, 15Gene 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

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 52QIAGEN, 54Reactome
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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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9.1LMNB1, LMNB2
4
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9.1LMNB2, LMNB1
5
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9.1LMNB1, LMNB2
6
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9.1LMNB2, LMNB1
7
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9.0SUN2, LMNB1

Compounds for genes affiliated with Reynolds Syndrome

Sources:
45Novoseek
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Compounds related to Reynolds Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ionomycin459.2LMNB1, LBR

GO Terms for genes affiliated with Reynolds Syndrome

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Reynolds Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet