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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
26 signs/symptoms
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Reynolds syndrome

LMNA LBR


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
Reynolds syndrome
LBR



Dilated cardiomyopathy - hypergonadotropic hypogonadism
Reynolds syndrome

Synonym(s):
- Cardiogenital syndrome
- Malouf syndrome
- Najjar syndrome

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

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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
External references:
1 OMIM reference -
No MeSH references

Dilated cardiomyopathy - hypergonadotropic hypogonadism
Reynolds syndrome

Very frequent
- Abnormal / polycystic ovaries
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Cardiomyopathy / hypertrophic / dilated
- Decreased body hair / axillar / pubic hairlessness
- Late puberty / hypogonadism / hypogenitalism
- Precocious puberty
- Ptosis



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