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1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
8 OMIM references -
9 associated genes
No signs/symptoms info
Melorheostosis with osteopoikilosis
Familial thoracic aortic aneurysm and aortic dissection

LEMD3 ACTA2
FBN1
MYH11
MYLK
PRKG1
SMAD3
TGFB2
TGFBR1
TGFBR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LEMD3
(0.72)
SMAD3



Citations in the biomedical literature:


Melorheostosis with osteopoikilosis
LEMD3
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 FBN1 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



Melorheostosis with osteopoikilosis
Familial thoracic aortic aneurysm and aortic dissection

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

Synonym(s):
- Familial TAAD

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic 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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
8 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


Familial thoracic aortic aneurysm and aortic dissection

(no data available)