Sudden infant death with dysgenesis of the testes syndrome

Preferred Label : Sudden infant death with dysgenesis of the testes syndrome;

Symbol : SIDDT;

CISMeF acronym : SIDDT;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the testis-specific protein-like 1 gene (TSPYL1, 604714.0001);

Laboratory abnormalities : Abnormal response to human chorionic gonadotropin indicates decreased testosterone;

Prefixed ID : #608800;

Details

Origin ID

608800;

UMLS CUI

C1837371;

Currated CISMeF NLP mapping
- Sudden infant death - dysgenesis of the testes [ICD-11 More detail]
- Sudden infant death with dysgenesis of testes syndrome (disorder) [SNOMED CT concept]
- Sudden infant death with dysgenesis of the testes syndrome [Disease (Nov.)]
- Sudden infant death-dysgenesis of the testes syndrome [ORDO Disease]
- sudden infant death with dysgenesis of the testes syndrome [MeSH concept]
- sudden infant death with dysgenesis of the testes syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Tspy-like 1 [OMIM gene]
HPO term(s)
- Abnormal pattern of respiration [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the eye [HPO term]
- Abnormality of the voice [HPO term]
- Ambiguous genitalia, male [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Bronchospasm [HPO term]
- Cardiorespiratory arrest [HPO term]
- Cryptorchidism [HPO term]
- Dysplastic testes [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gastroesophageal reflux [HPO term]
- Growth delay [HPO term]
- Laryngospasm [HPO term]
- Partial development of the penile shaft [HPO term]
- Staccato cry [HPO term]
- Stridor [HPO term]
- Testicular dysgenesis [HPO term]
- Tongue fasciculations [HPO term]
ORDO concept(s)
- Sudden infant death-dysgenesis of the testes syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sudden infant death - dysgenesis of the testes [ICD-11 More detail]
- Sudden infant death with dysgenesis of testes syndrome (disorder) [SNOMED CT concept]
- Sudden infant death with dysgenesis of the testes syndrome [Disease (Nov.)]
- Sudden infant death-dysgenesis of the testes syndrome [ORDO Disease]
- sudden infant death with dysgenesis of the testes syndrome [MeSH Supplementary Concept]
- sudden infant death with dysgenesis of the testes syndrome [MeSH concept]

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