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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

WNT4 APP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WNT4
(0.56)
APP



Citations in the biomedical literature:


Atypical Mayer-Rokitansky-Küster-Hauser syndrome
WNT4
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
APP



Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Synonym(s):
- Atypical MRKH syndrome
- Atypical Rokitansky syndrome
- WNT4 deficiency

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

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare renal disease
- Rare urogenital 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal 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:
1 OMIM reference -
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


Atypical Mayer-Rokitansky-Küster-Hauser syndrome

(no data available)