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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 1
13 OMIM references -
11 associated genes
20 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Blackfan-Diamond anemia

APP RPL11
RPL15
RPL26
RPL35A
RPL5
RPS10
RPS17
RPS19
RPS24
RPS26
RPS7


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
APP
APP
(0.56)
(0.56)
(0.56)
RPS10
RPS19
RPS26



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Blackfan-Diamond anemia
RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
RPS17 RPS19 RPS24 RPS26 RPS7



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Blackfan-Diamond anemia

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Aase syndrome
- Aase-Smith II syndrome
- Congenital PRCA
- Congenital hypoplastic anemia, Blackfan-Diamond type
- Congenital pure red cell aplasia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
13 OMIM references -
1 MeSH reference: D029503


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Blackfan-Diamond anemia

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



Very frequent
- Anaemia
- Cardiac rhythm disorder / arrhythmia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Pallor

Frequent
- Anomalies of hands
- Asthenia / fatigue / weakness
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Facial pain / cephalalgia / migraine
- Late puberty / hypogonadism / hypogenitalism
- Macrocytic anemia
- Structural anomalies of the genital system
- Structural anomalies of the kidney and the urinary tract

Occasional
- Acute leukemia
- Autosomal recessive inheritance
- Flattened nose
- Neoplasms / tumors
- Short stature / dwarfism / nanism
- Short / small nose
- Thick lips