MCID: RYN003
MIFTS: 51

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 54 50 56 71 29 13 69
Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, and Telangiectasia 50
Primary Biliary Cirrhosis Scleroderma Raynaud Disease and Telangiectasia 71
Primary Biliary Cirrhosis and Systemic Scleroderma 56
Reyns 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
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 : 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 scleroderma, familial progressive and encephalocele anencephaly, and has symptoms including dysphagia, sclerodactyly and hepatomegaly. An important gene associated with Reynolds Syndrome is LBR (Lamin B Receptor), and among its related pathways/superpathways are TNFR1 Pathway and Apoptosis Modulation and Signaling. The drugs Cytarabine and Iron 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 : 71 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 : 72 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:

54

Skin Nails & Hair- Skin:
sclerodactyly
jaundice
pruritis
telangiectasia, particularly of the fingerpads and lips
calcinosis cutis
more
Abdomen- Spleen:
splenomegaly

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
increased serum cholesterol
abnormal liver function tests
serum mitochondrial autoantibodies

Abdomen- Gastroin testinal:
decreased esophageal peristalsis
upper gastrointestinal bleeding
steatorrhea, mild


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 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
2 sclerodactyly 56 32 frequent (33%) Frequent (79-30%) HP:0011838
3 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 jaundice 56 32 occasional (7.5%) Occasional (29-5%) HP:0000952
5 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
6 gastroesophageal reflux 56 32 hallmark (90%) Very frequent (99-80%) HP:0002020
7 encephalitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002383
8 arthritis 56 32 frequent (33%) Frequent (79-30%) HP:0001369
9 myalgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003326
10 cirrhosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001394
11 fever 56 32 frequent (33%) Frequent (79-30%) HP:0001945
12 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
13 ascites 56 32 occasional (7.5%) Occasional (29-5%) HP:0001541
14 pruritus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000989
15 skin rash 56 32 frequent (33%) Frequent (79-30%) HP:0000988
16 lichenification 56 32 occasional (7.5%) Occasional (29-5%) HP:0100725
17 xerostomia 56 32 frequent (33%) Frequent (79-30%) HP:0000217
18 keratoconjunctivitis sicca 56 32 frequent (33%) Frequent (79-30%) HP:0001097
19 irregular hyperpigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007400
20 skin ulcer 56 32 frequent (33%) Frequent (79-30%) HP:0200042
21 mucosal telangiectasiae 56 32 frequent (33%) Frequent (79-30%) HP:0100579
22 abnormality of the gastric mucosa 56 32 hallmark (90%) Very frequent (99-80%) HP:0004295
23 splenomegaly 32 HP:0001744
24 hyperbilirubinemia 32 HP:0002904
25 biliary cirrhosis 32 HP:0002613
26 steatorrhea 32 HP:0002570
27 elevated alkaline phosphatase 32 HP:0003155
28 scleroderma 32 HP:0100324
29 elevated hepatic transaminases 32 HP:0002910
30 gastrointestinal hemorrhage 32 HP:0002239
31 calcinosis 32 HP:0003761
32 generalized abnormality of skin 56 Very frequent (99-80%)
33 teleangiectasia of the skin 56 Frequent (79-30%)
34 palmar telangiectasia 32 HP:0100869
35 lip telangiectasia 32 HP:0000214
36 telangiectasia of the skin 32 frequent (33%) 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 LMNB1 TMPO LMNA
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 10.02 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 TMPO ZMPSTE24 LBR LMNA LMNB1 LMNB2
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 8.92 LBR LMNA LMNB1 ZMPSTE24

Drugs & Therapeutics for Reynolds Syndrome

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

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 1, Phase 2 147-94-4 6253
2
Iron Approved Phase 2 7439-89-6 23925
3
Cholecalciferol Approved, Nutraceutical Phase 2 67-97-0 6221 10883523 5280795
4
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
6 Anti-Infective Agents Phase 1, Phase 2
7 Antimetabolites Phase 1, Phase 2
8 Antimetabolites, Antineoplastic Phase 1, Phase 2
9 Antiviral Agents Phase 1, Phase 2
10 Immunosuppressive Agents Phase 1, Phase 2
11 Bone Density Conservation Agents Phase 2
12 Ergocalciferols Phase 2
13 insulin Phase 2
14 Insulin, Globin Zinc Phase 2
15 Micronutrients Phase 2
16 Trace Elements Phase 2
17 Vitamins Phase 2
18 Acyclovir Phase 2
19 Calciferol Nutraceutical Phase 2
20 Vitamin D2 Nutraceutical Phase 2
21 Iron Supplement Nutraceutical Phase 2
22
Methyltestosterone Approved 58-18-4 6010
23
Testosterone Approved, Investigational 58-22-0 6013
24
Ethanol Approved 64-17-5 702
25
Zinc Approved 7440-66-6 32051 23994
26 Liver Extracts
27 Anabolic Agents
28 Androgens
29 Antineoplastic Agents, Hormonal
30 Hormone Antagonists
31 Hormones
32 Hormones, Hormone Substitutes, and Hormone Antagonists
33 Testosterone 17 beta-cypionate
34
Testosterone enanthate 315-37-7 9416
35 Testosterone undecanoate
36 Anti-Infective Agents, Local
37 Central Nervous System Depressants

Interventional clinical trials:

(show all 22)

id Name Status NCT ID Phase Drugs
1 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3 DDP733
2 Safety and Efficacy Study of PD-616 Plus Cytarabine to Treat Acute Myelogenous Leukemia or Myelodysplastic Syndrome Unknown status NCT01795924 Phase 1, Phase 2 PD-616
3 Metabolic Syndrome and Insulin Resistance at Allina Completed NCT01545830 Phase 2
4 Iron Treatment of Sleep Disorders in Children With Autism Spectrum Disorder Completed NCT01745497 Phase 2 Ferrous sulfate;Placebo
5 Acyclovir to Treat Patients Co-infected With HIV and Herpes Viruses in Uganda Completed NCT00405821 Phase 2 Acyclovir;Placebo
6 Telephone Support to Improve Adherence to Anti-HIV Medications Terminated NCT00988442 Phase 2
7 Safety and Acceptability of PRO 2000 Vaginal Gel in HIV Uninfected Women in India Completed NCT00081640 Phase 1 PRO 2000/5 Gel (P)
8 Primary Prevention of Major Depression in Later Life Unknown status NCT00326677
9 Relationship of Viral Resistance Development to CD4 Monitoring Alone or With Viral Load Monitoring Completed NCT00434070
10 Serial Daily Diaphragm Ultrasounds in Ventilated Patients Completed NCT02174029
11 Dallas Heart Study 2: Return Clinic Visit for the Dallas Heart Study Cohort Completed NCT00344903
12 Hepatitis B and HIV Co-Infection in Patients in Uganda Completed NCT00782158
13 Collecting and Storing Tissue From Young Patients With Cancer Recruiting NCT00898755
14 Integrating HIV and Depression Self-Care to Improve Adherence in Perinatal Women Recruiting NCT03016546
15 Cardiometabolic Profiles of Boys With Klinefelter Syndrome Recruiting NCT02723305
16 CLAD Phenotype Specific Risk Factors and Mechanisms. Recruiting NCT02631720
17 Parenting Training for Children With FASD Recruiting NCT02210455
18 Trial of Diet in Gestational Diabetes Mellitus: Metabolic Consequences to Mother and Offspring Recruiting NCT02244814
19 Study of Women With Acute Coronary Syndromes and Nonobstructive Coronary Artery Disease Active, not recruiting NCT00798122
20 Zinc for HIV Disease Among Alcohol Users - an RCT in the Russia ARCH Cohort Active, not recruiting NCT01934803
21 Omegaven Expanded Access Protocol Available NCT02121769 Omegaven
22 Cervical Spine Thrust Joint Manipulation for Temporomandibular Disorder Not yet recruiting NCT03300297

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, Heart, Testes

Publications for Reynolds Syndrome

Articles related to Reynolds Syndrome:

id 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
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:

71
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
12.44 LMNA LMNB1 LMNB2
2
Show member pathways
12.38 LMNA LMNB1 LMNB2
3
Show member pathways
12.26 LMNA LMNB1 TMPO
4
Show member pathways
12.04 LMNA LMNB1 SUN2
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
11.1 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 lamin filament GO:0005638 9.33 LMNA LMNB1 LMNB2
5 integral component of nuclear inner membrane GO:0005639 9.32 LBR SUN2
6 nuclear inner membrane GO:0005637 9.1 LBR LMNB1 LMNB2 SUN2 TMPO ZMPSTE24
7 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....