REYNS
MCID: RYN003
MIFTS: 46

Reynolds Syndrome (REYNS)

Categories: Blood diseases, Bone diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Reynolds Syndrome

MalaCards integrated aliases for Reynolds Syndrome:

Name: Reynolds Syndrome 57 73 20 58 72 36 29 13 6 39 70
Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, and Telangiectasia 57 20
Primary Biliary Cirrhosis Scleroderma Raynaud Disease and Telangiectasia 72
Primary Biliary Cirrhosis and Systemic Scleroderma 58
Reyns 72

Characteristics:

Orphanet epidemiological data:

58
reynolds syndrome
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
more common in women
a mutation in the lbr gene has been identified in 1 patient (as of july 2010)


HPO:

31
reynolds syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Rare renal diseases
Rare systemic and rhumatological diseases
Rare skin diseases


Summaries for Reynolds Syndrome

GARD : 20 Reynolds syndrome is an autoimmune disease characterized by the co-occurrence of primary biliary cholangitis (PBC) and limited cutaneous systemic sclerosis (LCSS). The signs and symptoms of Reynolds syndrome therefore include those of both PBC and LCSS. People with PBC may have symptoms such as tiredness (fatigue) and itchy skin (pruritus), as well as an enlarged liver (hepatomegaly). Signs and symptoms of LCSS may include calcium deposits in the skin, tissues, and organs (calcinosis); sores on the fingers and toes ( digital ulcers ); facial telangiectasias ; Raynaud's phenomenon ; esophageal dysfunction (such as acid reflux); and sclerodactyly (tightening of the skin on the fingers and toes). Reynolds syndrome typically occurs sporadically, affecting only one person in a family. Treatment aims to improve the signs and symptoms associated with each disease individually and may involve ursodeoxycholic acid for PBC to slow the progression of liver disease and various medications for the wide variety of possible symptoms of LCSS.

MalaCards based summary : Reynolds Syndrome, also known as primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia, is related to laminopathy and scleroderma, familial progressive, and has symptoms including pruritus and icterus. An important gene associated with Reynolds Syndrome is LBR (Lamin B Receptor), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Mitotic Prophase. Affiliated tissues include liver, salivary gland and breast, and related phenotypes are hepatomegaly and gastroesophageal reflux

KEGG : 36 Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). It is typically classified as an autoimmune disorder since there are specific autoantibodies associated with both facets of the disease (antimitochondrial antibodies for PBC and anticentromere/antitopoisomerase for SSc), and suggestive microscopical abnormalities in the skin and liver. A mutation in the Lamin B receptor gene has been discovered in the white blood cells, suggesting that nuclear signalling defects could be a cause in Reynolds syndrome.

UniProtKB/Swiss-Prot : 72 Reynolds syndrome: A syndrome specifically associating limited cutaneous systemic sclerosis and primary biliary cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis.

Wikipedia : 73 Reynolds syndrome is a rare secondary laminopathy, consisting of the combination of primary biliary... more...

More information from OMIM: 613471

Related Diseases for Reynolds Syndrome

Diseases related to Reynolds Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 laminopathy 29.0 ZMPSTE24 SUN2 LMNB2 LMNA
2 scleroderma, familial progressive 11.1
3 primary biliary cholangitis 10.4
4 systemic scleroderma 10.3
5 liver cirrhosis 10.3
6 crest syndrome 10.2
7 osteopoikilosis 10.0 LMNA LBR
8 mandibuloacral dysplasia with type a lipodystrophy 10.0 ZMPSTE24 LMNA
9 raynaud phenomenon 10.0
10 acroosteolysis 10.0 ZMPSTE24 LMNA
11 acquired generalized lipodystrophy 10.0 ZMPSTE24 LMNA
12 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.0 ZMPSTE24 LMNA
13 emerinopathy 10.0 SUN2 LMNA
14 complete generalized lipodystrophy 10.0 ZMPSTE24 LMNA
15 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0 ZMPSTE24 LMNA
16 restrictive dermopathy, lethal 10.0 ZMPSTE24 LMNA
17 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.0 SUN2 LMNA
18 skin atrophy 9.9 ZMPSTE24 LMNA
19 carbohydrate metabolic disorder 9.9 LBR CBX5
20 lipodystrophy, familial partial, type 2 9.9 ZMPSTE24 LMNA
21 myopathy, x-linked, with postural muscle atrophy 9.9 SUN2 LMNA
22 hyperoxaluria, primary, type i 9.9 LMNB2 LBR CBX5
23 autoimmune disease 9.9
24 hashimoto thyroiditis 9.9
25 varicose veins 9.9
26 myasthenia gravis 9.9
27 thymoma, familial 9.9
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
29 graft-versus-host disease 9.9
30 pleurisy 9.9
31 sialadenitis 9.9
32 pure red-cell aplasia 9.9
33 pericarditis 9.9
34 thymoma 9.9
35 thymic carcinoma 9.9
36 pulmonary fibrosis 9.9
37 thyroiditis 9.9
38 lupus erythematosus 9.9
39 lichen planus 9.9
40 cholangitis 9.9
41 pseudoainhum 9.9
42 x-linked emery-dreifuss muscular dystrophy 9.9 TMPO LMNA
43 nonencapsulated sclerosing carcinoma 9.8 LMNB2 LMNB1 LMNA
44 muscle tissue disease 9.8 LMNB2 LMNB1 LMNA
45 congenital generalized lipodystrophy 9.8 ZMPSTE24 LMNB2 LMNA
46 spinocerebellar ataxia, autosomal recessive 8 9.8 SUN2 LMNB1 LMNA
47 familial partial lipodystrophy 9.7 TMPO LMNA
48 calcinosis 9.7 ZMPSTE24 LMNA
49 buschke-ollendorff syndrome 9.6 LMNB2 LMNB1 LMNA LBR
50 pelger-huet anomaly 9.6 LMNB2 LMNB1 LMNA LBR

Graphical network of the top 20 diseases related to Reynolds Syndrome:



Diseases related to Reynolds Syndrome

Symptoms & Phenotypes for Reynolds Syndrome

Human phenotypes related to Reynolds Syndrome:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
2 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
5 abnormality of the gastric mucosa 58 31 hallmark (90%) Very frequent (99-80%) HP:0004295
6 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
7 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
8 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
9 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
10 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
11 mucosal telangiectasiae 58 31 frequent (33%) Frequent (79-30%) HP:0100579
12 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
13 irregular hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007400
14 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
15 keratoconjunctivitis sicca 58 31 frequent (33%) Frequent (79-30%) HP:0001097
16 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
17 sclerodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0011838
18 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
19 encephalitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002383
20 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
21 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
22 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
23 lichenification 58 31 occasional (7.5%) Occasional (29-5%) HP:0100725
24 splenomegaly 31 HP:0001744
25 generalized abnormality of skin 58 Very frequent (99-80%)
26 elevated hepatic transaminase 31 HP:0002910
27 biliary cirrhosis 31 HP:0002613
28 gastrointestinal hemorrhage 31 HP:0002239
29 steatorrhea 31 HP:0002570
30 hyperbilirubinemia 31 HP:0002904
31 raynaud phenomenon 31 HP:0030880
32 scleroderma 31 HP:0100324
33 lip telangiectasia 31 HP:0000214
34 palmar telangiectasia 31 HP:0100869
35 calcinosis 31 HP:0003761
36 elevated alkaline phosphatase 31 HP:0003155
37 calcinosis cutis 31 HP:0025520

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
jaundice
raynaud phenomenon
sclerodactyly
calcinosis cutis
pruritis
more
Head And Neck Mouth:
telangiectasia of the lips

Abdomen Liver:
hepatomegaly
primary biliary cirrhosis
absence of cholangioles
inflammatory cell infiltrate
destruction of the limiting plate

Laboratory Abnormalities:
hyperbilirubinemia
increased serum alkaline phosphatase
abnormal liver function tests
increased serum cholesterol
serum mitochondrial autoantibodies

Abdomen Gastrointestinal:
decreased esophageal peristalsis
upper gastrointestinal bleeding
steatorrhea, mild

Clinical features from OMIM®:

613471 (Updated 05-Apr-2021)

UMLS symptoms related to Reynolds Syndrome:


pruritus; icterus

GenomeRNAi Phenotypes related to Reynolds Syndrome according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.47 TMPO
2 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.47 LMNB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.47 LMNA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.47 TMPO
5 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.47 LMNA LMNB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-141 9.47 TMPO
7 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.47 TMPO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.47 LMNA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.47 TMPO
10 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.47 LMNB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.47 TMPO
12 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.47 LMNA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.47 LMNA

MGI Mouse Phenotypes related to Reynolds Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 LBR LMNA LMNB1 LMNB2 SUN2 TMPO
2 homeostasis/metabolism MP:0005376 9.87 CBX5 LBR LMNA LMNB1 LMNB2 SUN2
3 integument MP:0010771 9.73 LBR LMNA LMNB1 LMNB2 TMPO ZMPSTE24
4 mortality/aging MP:0010768 9.7 CBX5 LBR LMNA LMNB1 LMNB2 SUN2
5 muscle MP:0005369 9.35 LMNA LMNB1 LMNB2 SUN2 ZMPSTE24
6 skeleton MP:0005390 9.1 CBX5 LBR LMNA LMNB1 SUN2 ZMPSTE24

Drugs & Therapeutics for Reynolds Syndrome

Search Clinical Trials , NIH Clinical Center for Reynolds Syndrome

Genetic Tests for Reynolds Syndrome

Genetic tests related to Reynolds Syndrome:

# Genetic test Affiliating Genes
1 Reynolds Syndrome 29 LBR

Anatomical Context for Reynolds Syndrome

MalaCards organs/tissues related to Reynolds Syndrome:

40
Liver, Salivary Gland, Breast

Publications for Reynolds Syndrome

Articles related to Reynolds Syndrome:

(show all 22)
# Title Authors PMID Year
1
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. 6 57 61
20522425 2010
2
Coexistent Primary Biliary Cholangitis with CREST Syndrome (Reynolds Syndrome). 20 61
28602872 2017
3
Primary biliary cirrhosis with scleroderma, Raynaud's phenomenon and telangiectasia. New syndrome. 57
5553949 1971
4
Scleroderma and primary biliary cirrhosis. 57
5448799 1970
5
Chondrodermatitis nodularis chronica helicis in a patient with systemic sclerosis associated with primary biliary cirrhosis (Reynolds syndrome): A case report. 61
27708905 2014
6
[Reynolds syndrome revealing a malignant thymoma]. 61
23218067 2013
7
X chromosome monosomy in primary and overlapping autoimmune diseases. 61
20230920 2012
8
Is Reynolds syndrome a genetic laminopathy? 61
20800400 2010
9
Systemic sclerosis associated with primary biliary cirrhosis (Reynolds' syndrome) in a pair of siblings. 61
18078638 2007
10
[Multiple autoimmune syndrome. Reynolds-syndrome (acral scleroderma, primary biliary cirrhosis, Sjögren syndrome) associated with the lupus erythematosus/lichen planus overlap syndrome]. 61
15138654 2004
11
[Reynolds syndrome--a rare combination of 2 autoimmune diseases]. 61
11831061 2002
12
[Reynolds syndrome: the combination of scleroderma and primary biliary cirrhosis. Case report]. 61
11680268 2001
13
Pseudoainhum of all fingers associated with Reynolds' syndrome and breast cancer: report of a case and review of the literature. 61
11174422 2001
14
[Primary biliary cirrhosis and systemic scleroderma (Reynolds syndrome): apropos of 8 new cases. The contribution of accessory salivary gland biopsy]. 61
9775180 1998
15
[The Reynolds syndrome. Its diagnostic accessibility and therapeutic intervention in primary care]. 61
1504230 1992
16
[Reynolds syndrome: primary biliary cirrhosis associated with CREST syndrome]. 61
2090176 1990
17
[Reynolds' syndrome: the combination of scleroderma of CREST syndrome type and primary biliary cirrhosis]. 61
3674670 1987
18
[Reynolds syndrome. First Italian epidemiologic data]. 61
3759136 1986
19
[The Reynolds syndrome. Clinical case and review of the literature. Analogy with graft-versus-host disease]. 61
7033029 1981
20
[Digital necrosis disclosing Reynolds' syndrome (primary biliary cirrhosis and scleroderma) with Gougerot-Sjögren syndrome]. 61
7267335 1981
21
[Reynolds syndrome associated with Sjögren's syndrome]. 61
7383399 1980
22
[Gougerot-Sjögren syndrome, connective tissue diseases and autoimmune pathology]. 61
910105 1977

Variations for Reynolds Syndrome

ClinVar genetic disease variations for Reynolds Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LBR NM_002296.4(LBR):c.43C>T (p.Arg15Ter) SNV Pathogenic 1032813 GRCh37: 1:225611735-225611735
GRCh38: 1:225424033-225424033
2 LBR NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) SNV Likely pathogenic 9533 rs200180113 GRCh37: 1:225599113-225599113
GRCh38: 1:225411411-225411411
3 LBR NM_002296.4(LBR):c.1640A>G (p.Asn547Ser) SNV Uncertain significance 224875 rs374343844 GRCh37: 1:225592153-225592153
GRCh38: 1:225404451-225404451
4 LBR NM_002296.4(LBR):c.1366C>G (p.Leu456Val) SNV Uncertain significance 426800 rs377110126 GRCh37: 1:225594483-225594483
GRCh38: 1:225406781-225406781

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

72
# Symbol AA change Variation ID SNP ID
1 LBR p.Arg372Cys VAR_063811 rs200180113

Expression for Reynolds Syndrome

Search GEO for disease gene expression data for Reynolds Syndrome.

Pathways for Reynolds Syndrome

Pathways related to Reynolds Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 LMNB2 LMNB1 LMNA
2
Show member pathways
12.29 TMPO LMNB1 LMNA
3
Show member pathways
12.28 LMNB2 LMNB1 LMNA
4
Show member pathways
12.23 LMNB2 LMNB1 LMNA
5 12.05 TMPO LMNB2 LMNB1 LMNA
6
Show member pathways
12.04 SUN2 LMNB1 LMNA
7
Show member pathways
11.76 LMNB2 LMNB1 LMNA
8 11.52 TMPO LMNB2 LMNB1 LMNA
9
Show member pathways
11.1 LMNB1 LMNA
10
Show member pathways
11.06 LMNB2 LMNB1 LMNA
11 10.89 LMNB2 LBR
12
Show member pathways
10.32 TMPO LMNB1 LMNA

GO Terms for Reynolds Syndrome

Cellular components related to Reynolds Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.97 ZMPSTE24 TMPO SUN2 LMNB2 LMNB1 LMNA
2 nuclear membrane GO:0031965 9.63 TMPO SUN2 LMNB2 LMNB1 LMNA LBR
3 intermediate filament GO:0005882 9.58 LMNB2 LMNB1 LMNA
4 nuclear envelope GO:0005635 9.5 ZMPSTE24 TMPO SUN2 LMNB1 LMNA LBR
5 integral component of nuclear inner membrane GO:0005639 9.32 SUN2 LBR
6 lamin filament GO:0005638 9.26 LMNB1 LMNA
7 nuclear inner membrane GO:0005637 9.1 ZMPSTE24 TMPO SUN2 LMNB2 LMNB1 LBR

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

# Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 8.96 ZMPSTE24 LMNA
2 nuclear envelope organization GO:0006998 8.8 ZMPSTE24 SUN2 LMNA

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

# Name GO ID Score Top Affiliating Genes
1 lamin binding GO:0005521 8.8 TMPO SUN2 LBR

Sources for Reynolds Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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