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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Köbberling type

LMNA LMNA


COMMON
GENES
LMNA



Citations in the biomedical literature:


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
LMNA
Familial partial lipodystrophy, Köbberling type



Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Köbberling type

Synonym(s):
(no synonyms)

Synonym(s):
- FPLD1
- Familial partial lipodystrophy type 1

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

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

Familial partial lipodystrophy, Köbberling type

Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Diabetes mellitus
- Hyperinsulinism / hyperinsulinemia
- Insulin resistance
- Insulin-dependent / type 1 diabetes
- Lipoatrophy

Frequent
- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Hepatomegaly / liver enlargement (excluding storage disease)
- Liver / hepatic steatosis
- Xanthomas / lipomas

Occasional
- Angor pectoris / myocardial infarction
- Pancreatitis


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

(no data available)