Reynolds syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA
Primary biliary cirrhosis and systemic scleroderma
Number of Symptoms 52
OrphanetNr: 779
OMIM Id: 613471
ICD-10: K74.5
L94.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Immune complex mediated vasculitis
 -Rare circulatory system disease
 -Rare systemic or rheumatologic disease
Rare biliary tract disease
 -Rare hepatic disease
Secondary glomerular disease
 -Rare renal disease
Systemic autoimmune disease
 -Rare systemic or rheumatologic disease
Systemic disease with skin involvement
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000214) Lip telangiectasia 6 / 7739
2
 (HPO:0000217) Xerostomia Frequent [Orphanet] 35 / 7739
3
 (HPO:0001097) Keratoconjunctivitis sicca Frequent [Orphanet] 25 / 7739
4
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
5
 (HPO:0002383) Encephalitis Occasional [Orphanet] 41 / 7739
6
 (HPO:0100869) Palmar telangiectasia 3 / 7739
7
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
8
 (HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
9
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
10
 (HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
11
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
12
 (HPO:0002592) Gastric ulcer Very frequent [Orphanet] 39 / 7739
13
 (HPO:0002239) Gastrointestinal hemorrhage 97 / 7739
14
 (HPO:0001744) Splenomegaly 337 / 7739
15
 (HPO:0000952) Jaundice 105 / 7739
16
 (HPO:0002613) Biliary cirrhosis 11 / 7739
17
 (HPO:0002570) Steatorrhea 31 / 7739
18
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
19
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
20
 (HPO:0001063) Acrocyanosis Frequent [Orphanet] 56 / 7739
21
 (HPO:0100585) Telangiectasia of the skin Frequent [Orphanet] 66 / 7739
22
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
23
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
24
 (HPO:0007400) Irregular hyperpigmentation Frequent [Orphanet] 72 / 7739
25
 (HPO:0011838) Sclerodactyly 8 / 7739
26
 (HPO:0100679) Lack of skin elasticity Frequent [Orphanet] 29 / 7739
27
 (HPO:0000988) Skin rash Frequent [Orphanet] 98 / 7739
28
 (HPO:0100579) Mucosal telangiectasiae Frequent [Orphanet] 10 / 7739
29
 (HPO:0100725) Lichenification Occasional [Orphanet] 14 / 7739
30
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
31
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
32
 (HPO:0003124) Hypercholesterolemia 53 / 7739
33
 (HPO:0002904) Hyperbilirubinemia 32 / 7739
34
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
35
 (HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
36
 (HPO:0003761) Calcinosis 12 / 7739
37
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
38
 (OMIM) Serum mitochondrial autoantibodies 1 / 7739
39
 (OMIM) Telangiectasia, particularly of the fingerpads and lips 1 / 7739
40
 (OMIM) Numbness, pain, and tingling of the fingers in response to cold 1 / 7739
41
 (OMIM) Tight, shiny skin over the forearms and hands 1 / 7739
42
 (OMIM) Inflammatory cell infiltrate 1 / 7739
43
 (OMIM) Stiff skin Frequent [Orphanet] 31 / 7739
44
 (OMIM) Blanching of the fingers in response to cold 1 / 7739
45
 (OMIM) Destruction of the limiting plate 1 / 7739
46
 (OMIM) Calcinosis cutis 2 / 7739
47
 (OMIM) Upper gastrointestinal bleeding 1 / 7739
48
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
49
 (OMIM) Steatorrhea, mild 1 / 7739
50
 (OMIM) Generalized darkening of the skin 1 / 7739
51
 (OMIM) Absence of cholangioles 1 / 7739
52
 (OMIM) Decreased esophageal peristalsis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Reynolds et al. (1971) reported 6 unrelated women, ranging in age from 38 to 51 years, with a constellation of clinical features, including liver disease, telangiectasia, Raynaud phenomenon, and variable features of scleroderma (181750). The liver disease was ...
Molecular genetics OMIM In a 76-year-old Caucasian woman with Reynolds syndrome, Gaudy-Marqueste et al. (2010) identified a heterozygous mutation in the LBR gene (R372C; 600024.0007). Studies of patient lymphoblastoid cells did not show abnormalities, but patient fibroblasts showed decreased LBR and ...