Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
16 OMIM references -
4 associated genes
No signs/symptoms info
X-linked sideroblastic anemia - ataxia
Early-onset autosomal dominant Alzheimer disease

ABCB7 APP
PSEN1
PSEN2
SORL1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ABCB7
(0.56)
APP



Citations in the biomedical literature:


X-linked sideroblastic anemia - ataxia
ABCB7
Early-onset autosomal dominant Alzheimer disease
APP PSEN1 PSEN2 SORL1



X-linked sideroblastic anemia - ataxia
Early-onset autosomal dominant Alzheimer disease

Synonym(s):
(no synonyms)

Synonym(s):
- EOFAD
- Early-onset familial autosomal dominant Alzheimer disease
- Familial Alzheimer disease

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

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

X-linked sideroblastic anemia - ataxia

Very frequent
- Anaemia
- Ataxia / incoordination / trouble of the equilibrium
- Nystagmus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- X-linked recessive inheritance

Frequent
- Hypereflexia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Movement disorder

Occasional
- Hypotonia
- Intrauterine growth retardation
- Scoliosis
- Strabismus / squint


Early-onset autosomal dominant Alzheimer disease

(no data available)