REYNS
MCID: RYN003
MIFTS: 49

Reynolds Syndrome (REYNS) malady

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

Aliases & Classifications for Reynolds Syndrome

Aliases & Descriptions for Reynolds Syndrome:

Name: Reynolds Syndrome 54 50 56 66 29 13 69
Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, and Telangiectasia 50
Primary Biliary Cirrhosis Scleroderma Raynaud Disease and Telangiectasia 66
Primary Biliary Cirrhosis and Systemic Scleroderma 56
Reyns 66

Characteristics:

Orphanet epidemiological data:

56
reynolds syndrome
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;

HPO:

32
reynolds syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613471
Orphanet 56 ORPHA779
ICD10 via Orphanet 34 K74.3 L94.0
MedGen 40 C0748397

Summaries for Reynolds Syndrome

NIH Rare Diseases : 50 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 biliary cirrhosis, primary, 1 and scleroderma, familial progressive, and has symptoms including pruritus, fatigue and myalgia. An important gene associated with Reynolds Syndrome is LBR (Lamin B Receptor), and among its related pathways/superpathways are TNFR1 Pathway and Mitotic Prophase. The drugs Testosterone and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

UniProtKB/Swiss-Prot : 66 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.

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 by clinical synopsis from OMIM:

613471

Clinical features from OMIM:

613471

Human phenotypes related to Reynolds Syndrome:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Very frequent (99-80%) HP:0000989
2 fatigue 56 32 Very frequent (99-80%) HP:0012378
3 myalgia 56 32 Very frequent (99-80%) HP:0003326
4 fever 56 32 Frequent (79-30%) HP:0001945
5 dysphagia 56 32 Frequent (79-30%) HP:0002015
6 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
7 encephalitis 56 32 Occasional (29-5%) HP:0002383
8 arthritis 56 32 Frequent (79-30%) HP:0001369
9 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
10 gastroesophageal reflux 56 32 Very frequent (99-80%) HP:0002020
11 ascites 56 32 Occasional (29-5%) HP:0001541
12 cirrhosis 56 32 Occasional (29-5%) HP:0001394
13 skin ulcer 56 32 Frequent (79-30%) HP:0200042
14 jaundice 56 32 Occasional (29-5%) HP:0000952
15 keratoconjunctivitis sicca 56 32 Frequent (79-30%) HP:0001097
16 mucosal telangiectasiae 56 32 Frequent (79-30%) HP:0100579
17 xerostomia 56 32 Frequent (79-30%) HP:0000217
18 irregular hyperpigmentation 56 32 Frequent (79-30%) HP:0007400
19 skin rash 56 32 Frequent (79-30%) HP:0000988
20 abnormality of the gastric mucosa 56 32 Very frequent (99-80%) HP:0004295
21 lichenification 56 32 Occasional (29-5%) HP:0100725
22 sclerodactyly 56 32 Frequent (79-30%) HP:0011838
23 splenomegaly 32 HP:0001744
24 generalized abnormality of skin 56 Very frequent (99-80%)
25 elevated hepatic transaminases 32 HP:0002910
26 biliary cirrhosis 32 HP:0002613
27 teleangiectasia of the skin 56 Frequent (79-30%)
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 scleroderma 32 HP:0100324
34 lip telangiectasia 32 HP:0000214
35 calcinosis 32 HP:0003761
36 telangiectasia of the skin 32 HP:0100585

UMLS symptoms related to Reynolds Syndrome:


icterus, pruritus

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

26
id 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 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 LBR LMNA LMNB1 LMNB2 SUN2 TMPO
2 growth/size/body region MP:0005378 9.95 LBR LMNA LMNB1 LMNB2 SUN2 ZMPSTE24
3 hematopoietic system MP:0005397 9.85 CBX5 LBR LMNA LMNB1 TMPO ZMPSTE24
4 integument MP:0010771 9.8 LBR LMNA LMNB1 LMNB2 TMPO ZMPSTE24
5 craniofacial MP:0005382 9.73 LBR LMNA LMNB1 ZMPSTE24
6 mortality/aging MP:0010768 9.7 CBX5 LBR LMNA LMNB1 LMNB2 SUN2
7 limbs/digits/tail MP:0005371 9.56 LBR LMNA TMPO ZMPSTE24
8 muscle MP:0005369 9.35 LMNA LMNB1 LMNB2 SUN2 ZMPSTE24
9 nervous system MP:0003631 9.1 SUN2 ZMPSTE24 LBR LMNA LMNB1 LMNB2

Drugs & Therapeutics for Reynolds Syndrome

Drugs for Reynolds Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 4 58-22-0 6013
2
Methyltestosterone Approved Phase 4 58-18-4 6010
3 Testosterone undecanoate Phase 4
4 Testosterone 17 beta-cypionate Phase 4
5
Testosterone enanthate Phase 4 315-37-7 9416
6 Anabolic Agents Phase 4
7 Hormone Antagonists Phase 4
8 Androgens Phase 4
9 Hormones Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
11 Antineoplastic Agents, Hormonal Phase 4
12
Cytarabine Approved, Investigational Phase 3,Phase 1,Phase 2 147-94-4 6253
13
Ethanol Approved Phase 2, Phase 3 64-17-5 702
14
Daunorubicin Approved Phase 3 20830-81-3 30323
15
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
16
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
17
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
18
Nicotine Approved Phase 2, Phase 3 54-11-5 942 89594
19
Varenicline Approved, Investigational Phase 2, Phase 3 249296-44-4 5310966
20 Anti-Infective Agents Phase 3,Phase 1,Phase 2
21 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
22 Antimetabolites Phase 3,Phase 1,Phase 2
23 Antimetabolites, Antineoplastic Phase 3,Phase 1,Phase 2
24 Antiviral Agents Phase 3,Phase 1,Phase 2
25 Topoisomerase Inhibitors Phase 3
26 Anti-Bacterial Agents Phase 3,Phase 2
27 Antibiotics, Antitubercular Phase 3
28 Cholinergic Agents Phase 2, Phase 3
29 Neurotransmitter Agents Phase 2, Phase 3
30 Nicotinic Agonists Phase 2, Phase 3
31 Peripheral Nervous System Agents Phase 2, Phase 3
32 Autonomic Agents Phase 2, Phase 3
33 Central Nervous System Stimulants Phase 2, Phase 3
34
rituximab Approved Phase 2 174722-31-7 10201696
35
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
36
Lenalidomide Approved Phase 2 191732-72-6 216326
37
Iron Approved Phase 2 7439-89-6 23925
38
Cholecalciferol Approved, Nutraceutical Phase 2 67-97-0 6221 10883523 5280795
39
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
40 vitamin d Phase 2
41 Acyclovir Phase 2
42 insulin Phase 2
43 Trace Elements Phase 2
44 Ergocalciferols Phase 2
45 Vitamins Phase 2
46 Insulin, Globin Zinc Phase 2
47 Micronutrients Phase 2
48 Bone Density Conservation Agents Phase 2
49 Alkylating Agents Phase 2
50 Angiogenesis Inhibitors Phase 2

Interventional clinical trials:

(show all 31)
id Name Status NCT ID Phase
1 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Recruiting NCT02408445 Phase 4
2 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3
3 Clofarabine or Daunorubicin Hydrochloride and Cytarabine Followed By Decitabine or Observation in Treating Older Patients With Newly Diagnosed Acute Myeloid Leukemia Recruiting NCT02085408 Phase 3
4 Studying Partial-agonists for Ethanol and Tobacco Elimination in Russians With HIV (St PETER HIV) Not yet recruiting NCT02797587 Phase 2, Phase 3
5 Safety and Efficacy Study of PD-616 Plus Cytarabine to Treat Acute Myelogenous Leukemia or Myelodysplastic Syndrome Unknown status NCT01795924 Phase 1, Phase 2
6 Metabolic Syndrome and Insulin Resistance at Allina Completed NCT01545830 Phase 2
7 Acyclovir to Treat Patients Co-infected With HIV and Herpes Viruses in Uganda Completed NCT00405821 Phase 2
8 Telephone Support to Improve Adherence to Anti-HIV Medications Completed NCT00988442 Phase 2
9 Rituximab, Bendamustine Hydrochloride, and Bortezomib Followed by Rituximab and Lenalidomide in Treating Older Patients With Previously Untreated Mantle Cell Lymphoma Recruiting NCT01415752 Phase 2
10 Iron Treatment of Sleep Disorders in Children With Autism Spectrum Disorder Terminated NCT01745497 Phase 2
11 Safety and Acceptability of PRO 2000 Vaginal Gel in HIV Uninfected Women in India Completed NCT00081640 Phase 1
12 Primary Prevention of Major Depression in Later Life Unknown status NCT00326677
13 Relationship of Viral Resistance Development to CD4 Monitoring Alone or With Viral Load Monitoring Completed NCT00434070
14 Serial Daily Diaphragm Ultrasounds in Ventilated Patients Completed NCT02174029
15 Dallas Heart Study 2: Return Clinic Visit for the Dallas Heart Study Cohort Completed NCT00344903
16 Hepatitis B and HIV Co-Infection in Patients in Uganda Completed NCT00782158
17 Collecting and Storing Tissue From Young Patients With Cancer Recruiting NCT00898755
18 Integrating HIV and Depression Self-Care to Improve Adherence in Perinatal Women Recruiting NCT03016546
19 Cardiometabolic Profiles of Boys With Klinefelter Syndrome Recruiting NCT02723305
20 Ohio Colorectal Cancer Prevention Initiative Recruiting NCT01850654
21 CLAD Phenotype Specific Risk Factors and Mechanisms. Recruiting NCT02631720
22 Parenting Training for Children With FASD Recruiting NCT02210455
23 Trial of Diet in Gestational Diabetes Mellitus: Metabolic Consequences to Mother and Offspring Recruiting NCT02244814
24 International Study of Comparative Health Effectiveness With Medical and Invasive Approaches (ISCHEMIA) Recruiting NCT01471522
25 Integrated Cancer Repository for Cancer Research Recruiting NCT02012699
26 Bacteremia Antibiotic Length Actually Needed for Clinical Effectiveness: A Pilot RCT Recruiting NCT02261506
27 Bacteremia Antibiotic Length Actually Needed for Clinical Effectiveness Recruiting NCT03005145
28 Observational Study of HIV Infected Women Previously Enrolled in Other Microbicide Trials Recruiting NCT00514098
29 Study of Women With Acute Coronary Syndromes and Nonobstructive Coronary Artery Disease Active, not recruiting NCT00798122
30 Zinc for HIV Disease Among Alcohol Users - an RCT in the Russia ARCH Cohort Active, not recruiting NCT01934803
31 Omegaven Expanded Access Protocol Available NCT02121769

Search NIH Clinical Center for Reynolds Syndrome

Genetic Tests for Reynolds Syndrome

Genetic tests related to Reynolds Syndrome:

id Genetic test Affiliating Genes
1 Reynolds Syndrome 29

Anatomical Context for Reynolds Syndrome

MalaCards organs/tissues related to Reynolds Syndrome:

39
Skin, Liver, Bone, Breast

Publications for Reynolds Syndrome

Articles related to Reynolds Syndrome:

id Title Authors Year
1
Chondrodermatitis nodularis chronica helicis in a patient with systemic sclerosis associated with primary biliary cirrhosis (Reynolds syndrome): A case report. ( 27708905 )
2014
2
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. ( 20522425 )
2010
3
Is Reynolds syndrome a genetic laminopathy? ( 20800400 )
2010
4
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:

66
id Symbol AA change Variation ID SNP ID
1 LBR p.Arg372Cys VAR_063811 rs200180113

ClinVar genetic disease variations for Reynolds Syndrome:

6
id 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

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 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 LMNA LMNB1 LMNB2
2
Show member pathways
12.28 LMNA LMNB1 TMPO
3
Show member pathways
12.07 LMNA LMNB1 SUN2
4
Show member pathways
12.04 LMNA LMNB1 LMNB2
5 12.04 LMNA LMNB1 LMNB2 TMPO
6
Show member pathways
11.76 LMNA LMNB1 LMNB2
7 11.52 LMNA LMNB1 LMNB2 TMPO
8
Show member pathways
11.12 LMNA LMNB1
9
Show member pathways
11.01 LMNA LMNB1 LMNB2
10 10.89 LBR LMNB2
11
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:

id Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.65 LBR LMNA LMNB1 SUN2 TMPO
2 intermediate filament GO:0005882 9.54 LMNA LMNB1 LMNB2
3 nuclear envelope GO:0005635 9.5 CBX5 LBR LMNA LMNB1 LMNB2 SUN2
4 integral component of endoplasmic reticulum membrane GO:0030176 9.43 LBR ZMPSTE24
5 lamin filament GO:0005638 9.33 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
8 nucleus GO:0005634 10.01 CBX5 LBR LMNA LMNB1 LMNB2 SUN2

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

id 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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