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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
4 OMIM references -
2 associated genes
36 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Wolfram syndrome

APP CISD2
WFS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
CISD2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Wolfram syndrome
CISD2 WFS1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Wolfram syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- DIDMOAD syndrome
- Diabetes insipidus - diabetes mellitus - optic atrophy - deafness

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
1 MeSH reference: D014929


COMMON
SIGNS
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Wolfram syndrome

(no more signs)

Very frequent
- Autosomal recessive inheritance
- Diabetes insipidus
- Diabetes mellitus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Sensorineural deafness / hearing loss

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Bladder and ureter anomalies
- Elocution disorders / dysarthria / dysphonia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Nystagmus
- Recurrent urinary infections
- Renal disease / nephropathy
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Anaemia
- Cardiomyopathy / hypertrophic / dilated
- Constipation
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delirium / hallucination
- Dysautonomia / autonomous nervous sytem anomalies
- Early death / lethality
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Glaucoma
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Malabsorption / chronic diarrhea / steatorrhea
- Myopathy
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Peripheral neuropathy
- Psychosis / schizophrenia / maniac disorder
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Sleep and vigilance disorders