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Reynolds syndrome
1 OMIM reference -
1 associated gene
39 connected diseases
26 signs/symptoms
Disease Type of connection
Greenberg dysplasia
Microphthalmia with limb anomalies
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Autosomal agammaglobulinemia
Brugada syndrome
Burkitt lymphoma
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Spinocerebellar ataxia type 19 / 22
Young adult-onset Parkinsonism
Adult-onset autosomal dominant leukodystrophy
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Richieri Costa-Pereira syndrome
Synonym(s):
- Primary biliary cirrhosis and systemic scleroderma
Classification (Orphanet):
- Rare hepatic disease
- Rare renal disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LBR Q14739600024
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