Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
26 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Geroderma osteodysplastica

APP GORAB
PYCR1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Geroderma osteodysplastica
GORAB PYCR1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Geroderma osteodysplastica

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Walt Disney dwarfism

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic 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: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537799

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Geroderma osteodysplastica

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Abnormal vertebral size / shape
- Abnormal / absent ossification
- Autosomal recessive inheritance
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Loose skin / skin relaxation / excess skin / creases
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Short stature / dwarfism / nanism
- Thin skin

Frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypotonia
- Scoliosis

Occasional
- Anomalies of eyes and vision
- Epiphyseal anomaly
- Flat cheek bones / malar hypoplasia
- Flat foot
- Herniae
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcornea
- Pectus carinatum
- Platyspondyly
- Premature ageing
- Prognathism / prognathia
- Talipes-varus / metatarsal varus