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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
19 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Sudden infant death - dysgenesis of the testes

APP TSPYL1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
TSPYL1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Sudden infant death - dysgenesis of the testes
TSPYL1



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Sudden infant death - dysgenesis of the testes

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- SIDDT

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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

Sudden infant death - dysgenesis of the testes

Very frequent
- Ambiguous genitalia
- Apnea / sleep apnea
- Asthma / bronchospasm
- Autosomal recessive inheritance
- Cardiac rhythm disorder / arrhythmia
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Death in infancy
- Dysautonomia / autonomous nervous sytem anomalies
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Hypothermia
- Micropenis / small penis / agenesis
- Respiratory rhythm disorder
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Areflexia / hyporeflexia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Myoclonus / fasciculations
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy



Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)