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1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
10 OMIM references -
12 associated genes
No signs/symptoms info
Melorheostosis with osteopoikilosis
Left ventricular noncompaction

LEMD3 ACTC1
DTNA
LDB3
LMNA
MIB1
MYBPC3
MYH7
MYH7B
PRDM16
TAZ
TNNT2
TPM1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Melorheostosis with osteopoikilosis
LEMD3
Left ventricular noncompaction
ACTC1 DTNA LDB3 LMNA MIB1 MYBPC3
MYH7 MYH7B PRDM16 TAZ TNNT2 TPM1



Melorheostosis with osteopoikilosis
Left ventricular noncompaction

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

Synonym(s):
- LVNC
- Left ventricular hypertrabeculation
- Spongy myocardium

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

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
10 OMIM references -
No MeSH references

Melorheostosis with osteopoikilosis

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

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


Left ventricular noncompaction

(no data available)