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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
29 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Loeys-Dietz syndrome type 1

APP TGFBR1
TGFBR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
TGFBR2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Loeys-Dietz syndrome type 1
TGFBR1 TGFBR2



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Loeys-Dietz syndrome type 1

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- Aortic aneurysm syndrome due to TGF-beta receptors anomalies

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

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

Loeys-Dietz syndrome type 1

Very frequent
- Aortic dissection
- Aortic root dilatation / dilation / aneurysm
- Arterial aneurism (excluding aorta)
- Arterial rupture
- Autosomal dominant inheritance
- Flat foot
- High vaulted / narrow palate
- Palate anomalies
- Patent ductus arteriosus
- Uterine rupture

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Blue sclerae
- Camptodactyly of fingers
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat cheek bones / malar hypoplasia
- Long hand / arachnodactyly
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis
- Striae
- Tall stature / gigantism / growth acceleration

Occasional
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Craniostenosis / craniosynostosis / sutural synostosis
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hyperextensible joints / articular hyperlaxity
- Joint dislocation / subluxation
- Pectus carinatum
- Pectus excavatum
- Thin skin


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)