REYNS
MCID: RYN003
MIFTS: 46

Reynolds Syndrome (REYNS)

Categories: 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 58 77 54 60 76 38 30 13 6 41 74
Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, and Telangiectasia 58 54
Primary Biliary Cirrhosis Scleroderma Raynaud Disease and Telangiectasia 76
Primary Biliary Cirrhosis and Systemic Scleroderma 60
Reyns 76

Characteristics:

Orphanet epidemiological data:

60
reynolds syndrome
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;

OMIM:

58
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:

33
reynolds syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Reynolds Syndrome

NIH Rare Diseases : 54 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 scleroderma, familial progressive and primary biliary cholangitis, 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 Mitotic Metaphase and Anaphase and Apoptosis Modulation and Signaling. Affiliated tissues include skin, liver and bone, and related phenotypes are hepatomegaly and gastroesophageal reflux

UniProtKB/Swiss-Prot : 76 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 : 77 Reynolds syndrome is a rare secondary laminopathy, consisting of the combination of primary biliary... more...

Description from OMIM: 613471

Related Diseases for Reynolds Syndrome

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:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
2 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
3 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
4 pruritus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000989
5 myalgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003326
6 abnormality of the gastric mucosa 60 33 hallmark (90%) Very frequent (99-80%) HP:0004295
7 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
8 arthritis 60 33 frequent (33%) Frequent (79-30%) HP:0001369
9 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
10 skin ulcer 60 33 frequent (33%) Frequent (79-30%) HP:0200042
11 keratoconjunctivitis sicca 60 33 frequent (33%) Frequent (79-30%) HP:0001097
12 mucosal telangiectasiae 60 33 frequent (33%) Frequent (79-30%) HP:0100579
13 telangiectasia of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0100585
14 xerostomia 60 33 frequent (33%) Frequent (79-30%) HP:0000217
15 irregular hyperpigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007400
16 skin rash 60 33 frequent (33%) Frequent (79-30%) HP:0000988
17 sclerodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0011838
18 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
19 encephalitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002383
20 ascites 60 33 occasional (7.5%) Occasional (29-5%) HP:0001541
21 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
22 jaundice 60 33 occasional (7.5%) Occasional (29-5%) HP:0000952
23 lichenification 60 33 occasional (7.5%) Occasional (29-5%) HP:0100725
24 splenomegaly 33 HP:0001744
25 generalized abnormality of skin 60 Very frequent (99-80%)
26 elevated hepatic transaminase 33 HP:0002910
27 biliary cirrhosis 33 HP:0002613
28 gastrointestinal hemorrhage 33 HP:0002239
29 hyperbilirubinemia 33 HP:0002904
30 raynaud phenomenon 33 HP:0030880
31 palmar telangiectasia 33 HP:0100869
32 elevated alkaline phosphatase 33 HP:0003155
33 steatorrhea 33 HP:0002570
34 scleroderma 33 HP:0100324
35 calcinosis cutis 33 HP:0025520
36 lip telangiectasia 33 HP:0000214
37 calcinosis 33 HP:0003761

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
jaundice
raynaud phenomenon
calcinosis cutis
sclerodactyly
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

UMLS symptoms related to Reynolds Syndrome:


pruritus, icterus

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

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.53 TMPO
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.53 TMPO
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.53 TMPO
4 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.53 LMNA LMNB1 TMPO
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.53 TMPO
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.53 LMNA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.53 TMPO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.53 LMNB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.53 LMNB1 TMPO
10 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.53 TMPO
11 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.53 LMNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.53 LMNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.53 LMNA

MGI Mouse Phenotypes related to Reynolds Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 LBR LMNA LMNB1 LMNB2 SUN2 TMPO
2 growth/size/body region MP:0005378 9.98 CBX5 LBR LMNA LMNB1 LMNB2 SUN2
3 hematopoietic system MP:0005397 9.88 CBX5 LBR LMNA LMNB1 TMPO ZMPSTE24
4 integument MP:0010771 9.85 LBR LMNA LMNB1 LMNB2 TMPO ZMPSTE24
5 mortality/aging MP:0010768 9.8 CBX5 LBR LMNA LMNB1 LMNB2 SUN2
6 craniofacial MP:0005382 9.76 LBR LMNA LMNB1 ZMPSTE24
7 limbs/digits/tail MP:0005371 9.62 LBR LMNA TMPO ZMPSTE24
8 muscle MP:0005369 9.55 LMNA LMNB1 LMNB2 SUN2 ZMPSTE24
9 nervous system MP:0003631 9.43 LBR LMNA LMNB1 LMNB2 SUN2 ZMPSTE24
10 skeleton MP:0005390 9.02 CBX5 LBR LMNA LMNB1 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 30 LBR

Anatomical Context for Reynolds Syndrome

MalaCards organs/tissues related to Reynolds Syndrome:

42
Skin, Liver, Bone, Testes

Publications for Reynolds Syndrome

Articles related to Reynolds Syndrome:

# Title Authors Year
1
Coexistent Primary Biliary Cholangitis with CREST Syndrome (Reynolds Syndrome). ( 28602872 )
2017
2
Chondrodermatitis nodularis chronica helicis in a patient with systemic sclerosis associated with primary biliary cirrhosis (Reynolds syndrome): A case report. ( 27708905 )
2014
3
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. ( 20522425 )
2010
4
Is Reynolds syndrome a genetic laminopathy? ( 20800400 )
2010
5
Systemic sclerosis associated with primary biliary cirrhosis (Reynolds' syndrome) in a pair of siblings. ( 18078638 )
2007
6
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

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

76
# Symbol AA change Variation ID SNP ID
1 LBR p.Arg372Cys VAR_063811 rs200180113

ClinVar genetic disease variations for Reynolds Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LBR NM_194442.2(LBR): c.1114C> T (p.Arg372Cys) single nucleotide variant Likely pathogenic rs200180113 GRCh37 Chromosome 1, 225599113: 225599113
2 LBR NM_194442.2(LBR): c.1114C> T (p.Arg372Cys) single nucleotide variant Likely pathogenic rs200180113 GRCh38 Chromosome 1, 225411411: 225411411
3 LBR NM_002296.3(LBR): c.1366C> G (p.Leu456Val) single nucleotide variant Uncertain significance rs377110126 GRCh37 Chromosome 1, 225594483: 225594483
4 LBR NM_002296.3(LBR): c.1366C> G (p.Leu456Val) single nucleotide variant Uncertain significance rs377110126 GRCh38 Chromosome 1, 225406781: 225406781

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
12.41 LMNA LMNB1 TMPO
2
Show member pathways
12.37 LMNA LMNB1 LMNB2
3
Show member pathways
12.26 LMNA LMNB1 LMNB2
4
Show member pathways
12.26 LMNA LMNB1 TMPO
5
Show member pathways
12.07 LMNA LMNB1 SUN2
6 12.05 LMNA LMNB1 LMNB2 TMPO
7
Show member pathways
12.04 LMNA LMNB1 LMNB2
8
Show member pathways
11.76 LMNA LMNB1 LMNB2
9 11.52 LMNA LMNB1 LMNB2 TMPO
10
Show member pathways
11.02 LMNA LMNB1 LMNB2
11 10.89 LBR LMNB2
12
Show member pathways
10.32 LMNA LMNB1 TMPO

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 CBX5 LBR LMNA LMNB1 LMNB2 SUN2
2 nuclear membrane GO:0031965 9.63 LBR LMNA LMNB1 LMNB2 SUN2 TMPO
3 intermediate filament GO:0005882 9.58 LMNA LMNB1 LMNB2
4 lamin filament GO:0005638 9.43 LMNA LMNB1 LMNB2
5 nuclear inner membrane GO:0005637 9.43 LBR LMNB1 LMNB2 SUN2 TMPO ZMPSTE24
6 integral component of nuclear inner membrane GO:0005639 9.32 LBR SUN2
7 nuclear envelope GO:0005635 9.23 CBX5 LBR LMNA LMNB1 LMNB2 SUN2

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 LMNA ZMPSTE24
2 nuclear envelope organization GO:0006998 8.8 LMNA SUN2 ZMPSTE24

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.76 CBX5 LBR LMNA LMNB1 LMNB2 SUN2
2 structural molecule activity GO:0005198 8.96 LMNB1 LMNB2
3 lamin binding GO:0005521 8.8 LBR SUN2 TMPO

Sources for Reynolds Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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