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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
30 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Noonan syndrome-like disorder with loose anagen hair

APP SHOC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
SHOC2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Noonan syndrome-like disorder with loose anagen hair
SHOC2



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Noonan syndrome-like disorder with loose anagen hair

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: -
Type of inheritance: autosomal dominant

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

Noonan syndrome-like disorder with loose anagen hair

Very frequent
- Delayed bone age
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Low hair line (back)
- Low set ears / posteriorly rotated ears
- Short stature / dwarfism / nanism
- Short / small nose
- Webbed neck / pterygium colli

Frequent
- Absent / decreased / thin eyebrows
- Anteverted nares / nostrils
- Broad nose / nasal bridge
- Cardiomyopathy / hypertrophic / dilated
- Epicanthic folds
- Hydrocephaly
- Long / large ear
- Pectus excavatum
- Philtrum deeply grooved
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches

Occasional
- Elbow anomalies(excluding luxation)
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intervertebral disk anomaly
- Multiple caries
- Short hand / brachydactyly
- Thick lips
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Thin / retracted lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)