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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
12 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Junctional epidermolysis bullosa - pyloric atresia

APP ITGA6
ITGB4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
ITGA6



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Junctional epidermolysis bullosa - pyloric atresia
ITGA6 ITGB4



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Junctional epidermolysis bullosa - pyloric atresia

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- Carmi syndrome
- JEB-PA

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin 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: any age
Type of inheritance: autosomal recessive

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

Junctional epidermolysis bullosa - pyloric atresia

Very frequent
- Autosomal recessive inheritance
- Duodenal atresia / stenosis / megaduodenum
- Stomach / gastric anomaly
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum
- Polyhydramnios

Occasional
- Early death / lethality
- Ectropion / entropion / eyelid eversion
- Gastric / pyloric stenosis
- Nails anomalies
- Pterygion
- Ureteral stenosis / narrowing


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)