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1 OMIM reference -
1 associated gene
26 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Reynolds syndrome
Autosomal recessive Emery-Dreifuss muscular dystrophy

LBR LMNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LBR
(0.49)
LMNA



Citations in the biomedical literature:


Reynolds syndrome
LBR
Autosomal recessive Emery-Dreifuss muscular dystrophy
LMNA



Reynolds syndrome
Autosomal recessive Emery-Dreifuss muscular dystrophy

Synonym(s):
- Primary biliary cirrhosis and systemic scleroderma

Synonym(s):
- EDMD3

Classification (Orphanet):
- Rare hepatic disease
- Rare renal disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: sporadic
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D020389

Reynolds syndrome

Very frequent
- Asthenia / fatigue / weakness
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Myalgia / muscular pain
- Pruritus / itching

Frequent
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Arthritis / synovitis / synovial proliferation
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Dermal / subcutaneous infiltration / induration
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Irregular / in bands / reticular skin hyperpigmentation
- Mouth dryness / xerostomia
- Periarticular tissue anomaly / extraarticular calcifications
- Telangiectasiae of mucosae
- Telangiectasiae of the skin
- Tight skin / lack of elasticity
- Xerophthalmia / dry eyes

Occasional
- Ascitis
- Cirrhosis
- Encephalitis
- Hepatitis / icterus / cholestasis
- Lichen
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Autosomal recessive Emery-Dreifuss muscular dystrophy

(no data available)