MCID: RYN003
MIFTS: 45

Reynolds Syndrome malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Liver diseases, Nephrological diseases, Bone diseases, Skin diseases categories
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Summaries for Reynolds Syndrome

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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 based summary: Reynolds Syndrome, also known as primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia, is related to primary biliary cirrhosis and crest syndrome, and has symptoms including pruritus/itching, epigastralgia/heartburn/gastric/duodenal ulcer/gastritis and gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia. 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:65 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, 62UMLS, 26ICD10 via Orphanet
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Reynolds Syndrome, Aliases & Descriptions:

Name: Reynolds Syndrome 42 22 46 48 62
Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, and Telangiectasia 42
 
Primary Biliary Cirrhosis and Systemic Scleroderma 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 613471
ICD10 via Orphanet26 K74.3, L94.0

Related Diseases for Reynolds Syndrome

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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
2crest syndrome10.1
3breast cancer10.1
4pseudoainhum10.1
5pelger-huet anomaly10.1LMNB2, LBR
6emery-dreifuss muscular dystrophy10.1LBR, LMNB2
7chronic fatigue syndrome10.0SUN2, LBR
8muscular dystrophy10.0LMNB1, SUN2
9progeria9.9ZMPSTE24, LMNB1
10lipodystrophy9.7ZMPSTE24, LMNB2, LMNB1

Graphical network of diseases related to Reynolds Syndrome:



Diseases related to reynolds syndrome

Symptoms for Reynolds Syndrome

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Symptoms by clinical synopsis from OMIM:

613471

Clinical features from OMIM:

613471

Symptoms:

48 (show all 26)
  • pruritus/itching
  • 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
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • 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

HPO human phenotypes related to Reynolds Syndrome:

(show all 36)
id Description Frequency HPO Source Accession
1 pruritus hallmark (90%) HP:0000989
2 hepatomegaly hallmark (90%) HP:0002240
3 myalgia hallmark (90%) HP:0003326
4 abnormality of the gastric mucosa hallmark (90%) HP:0004295
5 xerostomia typical (50%) HP:0000217
6 chondrocalcinosis typical (50%) HP:0000934
7 skin rash typical (50%) HP:0000988
8 acrocyanosis typical (50%) HP:0001063
9 keratoconjunctivitis sicca typical (50%) HP:0001097
10 arthritis typical (50%) HP:0001369
11 abnormality of temperature regulation typical (50%) HP:0004370
12 irregular hyperpigmentation typical (50%) HP:0007400
13 feeding difficulties in infancy typical (50%) HP:0008872
14 mucosal telangiectasiae typical (50%) HP:0100579
15 teleangiectasia of the skin typical (50%) HP:0100585
16 lack of skin elasticity typical (50%) HP:0100679
17 skin ulcer typical (50%) HP:0200042
18 cirrhosis occasional (7.5%) HP:0001394
19 ascites occasional (7.5%) HP:0001541
20 respiratory insufficiency occasional (7.5%) HP:0002093
21 encephalitis occasional (7.5%) HP:0002383
22 lichenification occasional (7.5%) HP:0100725
23 autosomal dominant inheritance HP:0000006
24 lip telangiectasia HP:0000214
25 jaundice HP:0000952
26 splenomegaly HP:0001744
27 gastrointestinal hemorrhage HP:0002239
28 hepatomegaly HP:0002240
29 steatorrhea HP:0002570
30 biliary cirrhosis HP:0002613
31 hyperbilirubinemia HP:0002904
32 elevated hepatic transaminases HP:0002910
33 elevated alkaline phosphatase HP:0003155
34 calcinosis HP:0003761
35 sclerodactyly HP:0011838
36 palmar telangiectasia HP:0100869

Drugs & Therapeutics for Reynolds Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Reynolds Syndrome

Genetic Tests for Reynolds Syndrome

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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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MalaCards organs/tissues related to Reynolds Syndrome:

32
Skin, Liver, Eye, Bone, Lung, Breast

Animal Models for Reynolds Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Reynolds Syndrome:

36
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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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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UniProtKB/Swiss-Prot genetic disease variations for Reynolds Syndrome:

64
id Symbol AA change Variation ID SNP ID
1LBRp.Arg372CysVAR_063811

Clinvar genetic disease variations for Reynolds Syndrome:

6
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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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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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 pathway60
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
9.4LMNB1, LMNB2
5
Show member pathways
FAS pathway and Stress induction of HSP regulation37
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis37
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 biosynthesis37
lanosterol biosynthesis37
zymosterol biosynthesis37
mevalonate pathway I37
epoxysqualene biosynthesis37
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)37
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)37
trans, trans-farnesyl diphosphate biosynthesis37
cholesterol biosynthesis I37
cholesterol biosynthesis III (via desmosterol)37
geranylgeranyldiphosphate biosynthesis37
9.2ZMPSTE24, LBR

Compounds for genes affiliated with Reynolds Syndrome

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

idCompoundScoreTop Affiliating Genes
1ionomycin449.5LMNB1, LBR

GO Terms for genes affiliated with Reynolds Syndrome

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet