MCID: RYN003
MIFTS: 47

Reynolds Syndrome

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

Aliases & Classifications for Reynolds Syndrome

MalaCards integrated aliases for Reynolds Syndrome:

Name: Reynolds Syndrome 57 76 53 59 75 37 29 13 6 40 73
Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, and Telangiectasia 57 53
Primary Biliary Cirrhosis Scleroderma Raynaud Disease and Telangiectasia 75
Primary Biliary Cirrhosis and Systemic Scleroderma 59
Reyns 75

Characteristics:

Orphanet epidemiological data:

59
reynolds syndrome
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;

OMIM:

57
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:

32
reynolds syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Reynolds Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Reynolds Syndrome, also known as primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia, is related to scleroderma, familial progressive and emerinopathy, and has symptoms including icterus and pruritus. An important gene associated with Reynolds Syndrome is LBR (Lamin B Receptor), and among its related pathways/superpathways are TNFR1 Pathway and Mitotic Metaphase and Anaphase. Affiliated tissues include skin, liver and bone, and related phenotypes are dysphagia and respiratory insufficiency

UniProtKB/Swiss-Prot : 75 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 : 76 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

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Skin Nails Hair Skin:
jaundice
raynaud phenomenon
sclerodactyly
pruritis
telangiectasia, particularly of the fingerpads and lips
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

Human phenotypes related to Reynolds Syndrome:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
2 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
3 encephalitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002383
4 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
5 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
6 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
7 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
8 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
9 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
10 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
11 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
12 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
13 jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0000952
14 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
15 keratoconjunctivitis sicca 59 32 frequent (33%) Frequent (79-30%) HP:0001097
16 mucosal telangiectasiae 59 32 frequent (33%) Frequent (79-30%) HP:0100579
17 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
18 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
19 irregular hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007400
20 skin rash 59 32 frequent (33%) Frequent (79-30%) HP:0000988
21 abnormality of the gastric mucosa 59 32 hallmark (90%) Very frequent (99-80%) HP:0004295
22 lichenification 59 32 occasional (7.5%) Occasional (29-5%) HP:0100725
23 sclerodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0011838
24 splenomegaly 32 HP:0001744
25 generalized abnormality of skin 59 Very frequent (99-80%)
26 elevated hepatic transaminases 32 HP:0002910
27 biliary cirrhosis 32 HP:0002613
28 gastrointestinal hemorrhage 32 HP:0002239
29 hyperbilirubinemia 32 HP:0002904
30 palmar telangiectasia 32 HP:0100869
31 elevated alkaline phosphatase 32 HP:0003155
32 steatorrhea 32 HP:0002570
33 raynaud phenomenon 32 HP:0030880
34 scleroderma 32 HP:0100324
35 lip telangiectasia 32 HP:0000214
36 calcinosis 32 HP:0003761
37 calcinosis cutis 32 HP:0025520

UMLS symptoms related to Reynolds Syndrome:


icterus, pruritus

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 9.53 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 TMPO LMNA LMNB1
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 TMPO LMNB1
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:

46
# 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 SUN2 ZMPSTE24 CBX5 LBR LMNA LMNB1
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 ZMPSTE24 LBR LMNA TMPO
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 29 LBR

Anatomical Context for Reynolds Syndrome

MalaCards organs/tissues related to Reynolds Syndrome:

41
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
Is Reynolds syndrome a genetic laminopathy? ( 20800400 )
2010
4
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. ( 20522425 )
2010
5
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:

75
# 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 Pathogenic rs200180113 GRCh37 Chromosome 1, 225599113: 225599113
2 LBR NM_194442.2(LBR): c.1114C> T (p.Arg372Cys) single nucleotide variant Pathogenic rs200180113 GRCh38 Chromosome 1, 225411411: 225411411

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 LMNA LMNB1 LMNB2
2
Show member pathways
12.43 LMNA LMNB1 TMPO
3
Show member pathways
12.4 LMNA LMNB1 LMNB2
4
Show member pathways
12.28 LMNA LMNB1 LMNB2
5
Show member pathways
12.28 LMNA LMNB1 TMPO
6
Show member pathways
12.07 LMNA LMNB1 SUN2
7 12.05 LMNA LMNB1 LMNB2 TMPO
8
Show member pathways
12.04 LMNA LMNB1 LMNB2
9
Show member pathways
11.76 LMNA LMNB1 LMNB2
10 11.52 LMNA LMNB1 LMNB2 TMPO
11
Show member pathways
11.12 LMNA LMNB1
12
Show member pathways
11.01 LMNA LMNB1 LMNB2
13 10.89 LBR LMNB2
14
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 nuclear envelope GO:0005635 9.5 CBX5 LBR LMNA LMNB1 LMNB2 SUN2
5 lamin filament GO:0005638 9.43 LMNA LMNB1 LMNB2
6 integral component of nuclear inner membrane GO:0005639 9.32 LBR SUN2
7 nuclear inner membrane GO:0005637 9.1 LBR LMNB1 LMNB2 SUN2 TMPO ZMPSTE24

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

# Name GO ID Score Top Affiliating Genes
1 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 structural molecule activity GO:0005198 9.13 LMNA LMNB1 LMNB2
2 lamin binding GO:0005521 8.8 LBR SUN2 TMPO

Sources for Reynolds Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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