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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
8 signs/symptoms
X-linked diffuse leiomyomatosis - Alport syndrome
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

COL4A5 APP
COL4A6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A6
COL4A5
(0.7)
(0.52)
APP
APP



Citations in the biomedical literature:


X-linked diffuse leiomyomatosis - Alport syndrome
COL4A5 COL4A6
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
APP



X-linked diffuse leiomyomatosis - Alport syndrome
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Synonym(s):
- Xq22.3 microdeletion syndrome

Synonym(s):
- HCHWA, Dutch type
- HCHWA-D

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537944 / D028243

Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Very frequent
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline

Frequent
- Intracranial / cerebral calcifications
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke

Occasional
- Early death / lethality


X-linked diffuse leiomyomatosis - Alport syndrome

(no data available)