Cytoscape Web
Click node...

Sudden infant death - dysgenesis of the testes
1 OMIM reference -
1 associated gene
14 connected diseases
19 signs/symptoms
Disease Type of connection
Fanconi anemia
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Distal myopathy with posterior leg and anterior hand involvement
Isolated anophthalmia - microphthalmia
Muscle filaminopathy
Septo-optic dysplasia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- SIDDT
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare respiratory disease
- Rare urogenital disease
Classification (ICD10):
- Diseases of the nervous system -
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
Gene symbol UniProt reference OMIM reference
TSPYL1 Q9H0U9604714
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