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1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
15 signs/symptoms
Melorheostosis with osteopoikilosis
Familial partial lipodystrophy, Köbberling type

LEMD3 LMNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LEMD3
(0.49)
LMNA



Citations in the biomedical literature:


Melorheostosis with osteopoikilosis
LEMD3
Familial partial lipodystrophy, Köbberling type
LMNA



Melorheostosis with osteopoikilosis
Familial partial lipodystrophy, Köbberling type

Synonym(s):
- MSBD syndrome
- Mixed sclerosing bone dystrophy

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

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Chronic arterial hypertension
- Xanthomas / lipomas


Melorheostosis with osteopoikilosis
Familial partial lipodystrophy, Köbberling type

Very frequent
- Cortical anomaly / thick bone cortical layer
- Osteosclerosis / osteopetrosis / bone condensation

Occasional
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Subcutaneous nodules / lipomas / tumefaction / swelling


Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- 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

Occasional
- Angor pectoris / myocardial infarction
- Pancreatitis