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

APP NF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.73)
NF1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Watson syndrome
NF1



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Watson syndrome

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- Pulmonic stenosis with 'cafe-au-lait' spots

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical cardiac disease

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

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

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

Watson syndrome

Very frequent
- Autosomal dominant inheritance
- Broad forehead
- Cafe-au-lait spot
- Cutaneous neurofibromas / facial angiofibromas / Koenen tumors
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Excess nuchal skin without pterygium colli
- Excessive freckling
- Hypertelorism
- Philtrum deeply grooved
- Philtrum flat / large / featureless / absent cupidon bows
- Ptosis
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Short neck
- Short stature / dwarfism / nanism

Frequent
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large ear
- Pectus excavatum
- Puffy eyelids
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Triangular face
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Hypotonia
- Kyphosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)