KEGG DISEASE: Sudden infant death with dysgenesis of the testes syndrome

KEGG

DISEASE: Sudden infant death with dysgenesis of the testes syndrome

Entry

H02174                      Disease

Name

Sudden infant death with dysgenesis of the testes syndrome

Description

Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is an autosomal recessive syndrome that was first identified in an Old Order Amish community. Infants with SIDDT appear normal at birth, develop signs of visceral and autonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. SIDDT was identified to be caused by loss of function mutations in the TSPYL1 gene.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
21 Symptoms, signs or clinical findings, not elsewhere classified
  Ill-defined and unknown causes of mortality
   MH11  Sudden infant death syndrome
    H02174  Sudden infant death with dysgenesis of the testes syndrome

Gene

TSPYL1 [HSA:7259] [KO:K11284]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, Stephan DA

Title

Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.

Journal

Proc Natl Acad Sci U S A 101:11689-94 (2004)
DOI:10.1073/pnas.0401194101

Reference

Authors

Hering R, Frade-Martinez R, Bajanowski T, Poets CF, Tschentscher F, Riess O

Title

Genetic investigation of the TSPYL1 gene in sudden infant death syndrome.

Journal

Genet Med 8:55-8 (2006)
DOI:10.1097/01.gim.0000195898.15290.03

LinkDB

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