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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
34 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Thrombocytopenia - absent radius

APP RBM8A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
RBM8A



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Thrombocytopenia - absent radius
RBM8A



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Thrombocytopenia - absent radius

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- TAR syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Thrombocytopenia - absent radius

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



Very frequent
- Clotting / hemostasis disorders
- Insterstitial / subtelomeric microdeletion / deletion
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Thrombocytopenia / thrombopenia

Frequent
- Broad forehead
- Clinodactyly of fifth finger
- Genu varum
- High forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Intestinal transit disorder
- Low set ears / posteriorly rotated ears
- Patella absent / abnormal (excluding luxation)
- Patella dislocation
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Occasional
- Broad / bifid thumb
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cardiac septal defect
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Ectopic / horseshoe / fused kidneys
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Phocomelia
- Rib number anomalies
- Scoliosis
- Sensorineural deafness / hearing loss
- Structural anomalies of the kidney and the urinary tract
- Syndactyly of fingers / interdigital palm
- Tetralogy of Fallot / trilogy of Fallot
- Uterine / uterus / Fallopian tubes anomalies
- Vertebral segmentation anomaly / hemivertebrae