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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
21 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
X-linked Charcot-Marie-Tooth disease type 1

APP GJB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
GJB1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
X-linked Charcot-Marie-Tooth disease type 1
GJB1



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
X-linked Charcot-Marie-Tooth disease type 1

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- CMT1X
- CMTX1

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535919

X-linked Charcot-Marie-Tooth disease type 1

Very frequent
- Areflexia / hyporeflexia
- Flat palm
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Nerve conduction abnormality
- Peripheral neuropathy
- Pes cavus
- Sensitive trouble / deficit
- X-linked dominant inheritance

Frequent
- Insensitivity to pain
- Motor deficit / trouble

Occasional
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Elocution disorders / dysarthria / dysphonia
- Hearing loss / hypoacusia / deafness
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Kyphosis
- Scoliosis
- Somnolence / hypersomnia / parasomnia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tremor


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)