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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
27 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Acute intermittent porphyria

APP HMBS


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Acute intermittent porphyria
HMBS



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Acute intermittent porphyria

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare renal disease
- Rare skin disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D017118


COMMON
SIGNS
- Psychic / behavioural troubles


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Acute intermittent porphyria

Very frequent
- Autosomal dominant inheritance
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Abnormal colour of the urine / cholic / dark urines
- Acute abdominal pain / colic
- Anorexia
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Insomnia
- Muscle weakness / flaccidity
- Myalgia / muscular pain
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Acute arterial hypertension / hypertensive crisis
- Cardiac rhythm disorder / arrhythmia
- Constipation
- Hyperhidrosis / increased sweating
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness

Occasional
- Articular / joint pain / arthralgia
- Cranial nerves palsy
- Delirium / hallucination
- Diaphragmatic palsy
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hyponatremia
- Obnubilation / coma / lethargia / desorientation
- Renal failure
- Weight loss / loss of appetite / break in weight curve / general health alteration