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4 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Combined pituitary hormone deficiencies, genetic forms
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

GLI2 APP
HESX1
OTX2
POU1F1
PROP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
OTX2
(0.56)
APP



Citations in the biomedical literature:


Combined pituitary hormone deficiencies, genetic forms
GLI2 HESX1 OTX2 POU1F1 PROP1
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



Combined pituitary hormone deficiencies, genetic forms
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Synonym(s):
- Familial congenital hypopituitarism
- Multiple pituitary hormone deficiencies, genetic forms

Synonym(s):
- HCHWA, Piedmont type

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Very frequent
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality


Combined pituitary hormone deficiencies, genetic forms

(no data available)