Testicular anomalies with or without congenital heart disease

Preferred Label : Testicular anomalies with or without congenital heart disease;

Symbol : TACHD;

CISMeF acronym : TACHD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GATA-binding protein-4 gene (GATA4, 600576.0018);

Laboratory abnormalities : Normal serum testosterone levels; Low serum anti-Mullerian hormone (AMH) levels;

Prefixed ID : #615542;

Details

Origin ID

615542;

UMLS CUI

C3809858;

Genes related to phenotype
- Gata-binding protein 4 [OMIM gene]
HPO term(s)
- Ambiguous genitalia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cryptorchidism [HPO term]
- Micropenis [HPO term]
- Microphallus [HPO term]
- Perineal hypospadias [HPO term]
- Testicular dysgenesis [HPO term]
- Tetralogy of Fallot [HPO term]
Not associated HPO term(s)
- Abnormality of thyroid physiology [HPO term]
ORDO concept(s)
- 46,XY partial gonadal dysgenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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