General Information of Disease (ID: DIS7C4ZZ)

Disease Name Sudden infant death-dysgenesis of the testes syndrome
Synonyms sudden infant death with dysgenesis of the testes syndrome; sudden infant death - dysgenesis of the testes; SIDDT
Definition Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
Disease Hierarchy
DISYKSRF: Genetic disease
DISGGAGJ: Respiratory disease
DIS78CGG: 46,XY disorder of sex development
DIS7C4ZZ: Sudden infant death-dysgenesis of the testes syndrome
Disease Identifiers
MONDO ID
MONDO_0012124
MESH ID
C563856
UMLS CUI
C1837371
OMIM ID
608800
MedGen ID
332428
Orphanet ID
168593
SNOMED CT ID
711157000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TSPYL1 OTVVPELG Strong Autosomal recessive [1]
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References

1 Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci U S A. 2004 Aug 10;101(32):11689-94. doi: 10.1073/pnas.0401194101. Epub 2004 Jul 23.