ORPHA:779
Reynolds syndrome
Synonyms: Primary biliary cirrhosis and systemic scleroderma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Reynolds syndrome | Primary biliary cirrhosis and systemic scleroderma |
| fr | Syndrome de Reynolds | Cirrhose biliaire primitive et sclérodermie systémique |
| de | Reynolds-Syndrom | Primäre biliäre Zirrhose und systemische Sklerodermie |
| es | Síndrome de Reynolds | Cirrosis biliar y esclerodermia sistémica primarias |
| it | Sindrome di Reynolds | Cirrosi biliare primitiva e sclerodermia sistemica |
| nl | Reynoldssyndroom | Primaire biliaire cirrose en systemische sclerodermie |
| pt | Síndrome Reynolds | |
| pl | Zespół Reynoldsa | Pierwotna marskość żółciowa wątroby i twardzina układowa |
| cs | Reynoldsův syndrom | Primární biliární cirhóza a systémová sklerodermie |
| uk | Синдром Рейнольдса | Первинний біліарний цироз та системна склеродермія |
| zh | 雷诺综合征 | 原发性胆汁性肝硬化和系统性硬皮病 |
| tr | Reynolds sendromu | Primer biliyer siroz ve sistemik skleroderma |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613471 | E | validated | |
| ICD-10 | K74.3 | ND | attributed | validated |
| ICD-10 | M34.8 | ND | attributed | validated |
| ICD-11 | 4A43.Y | NTBT | index | validated |
| MONDO | 0013276 | E | validated | |
| UMLS | C0748397 | E | validated | |
| GARD | 4697 | E | validated | |
| MedDRA | 10070953 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:567558Non-genetic systemic disease with glomerulopathy as a major feature
rare renal diseases; rare transplant-related disorders - ORPHA:101941Rare biliary tract disease
rare hepatic diseases - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases - ORPHA:290836Systemic disease with skin involvement
rare skin diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LBR | Candidate gene tested in | Not yet assessed | HGNC:6518 | ENSG00000143815 | 600024 | 1q42.12 | lamin B receptor | 20522425[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004295 | Abnormality of the gastric mucosa | |
| HP:0012378 | Fatigue | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0002240 | Hepatomegaly | |
| HP:0003326 | Myalgia | |
| HP:0000989 | Pruritus | |
| Frequent (79-30%) | ||
| HP:0001369 | Arthritis | |
| HP:0002015 | Dysphagia | |
| HP:0001945 | Fever | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0100579 | Mucosal telangiectasiae | |
| HP:0011838 | Sclerodactyly | |
| HP:0000988 | Skin rash | |
| HP:0200042 | Skin ulcer | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0000217 | Xerostomia | |
| Occasional (29-5%) | ||
| HP:0001541 | Ascites | |
| HP:0001394 | Cirrhosis | |
| HP:0002383 | Infectious encephalitis | |
| HP:0000952 | Jaundice | |
| HP:0100725 | Lichenification | |
| HP:0002093 | Respiratory insufficiency | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/779
- This record as JSON: /data/d/779.json