46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs

Preferred Label : 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs;

Symbol : SERKAL;

CISMeF acronym : SERKAL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Serkal syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 4 (WNT4, 603490.0002);

Laboratory abnormalities : 46,XX male (in 1 fetus);

Prefixed ID : #611812;

Détails

Origin ID

611812;

UMLS CUI

C2678492;

Currated CISMeF NLP mapping
- SERKAL Syndrome [NCIt concept]
- SERKAL syndrome [ORDO Disease]
- Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) [SNOMED CT concept]
- sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs [MeSH concept]
- sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs [MeSH Supplementary Concept]
Genes related to phenotype
- Wingless-type mmtv integration site family, member 4 [OMIM gene]
HPO term(s)
- Abnormality of the genital system [HPO term]
- Adrenal gland agenesis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral lung agenesis [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Hypoplasia of the bladder [HPO term]
- Hypospadias [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Oligohydramnios [HPO term]
- Ovotestis [HPO term]
- Pulmonary artery stenosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal agenesis [HPO term]
- Sex reversal [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- SERKAL syndrome [ORDO Disease]
See also inter- (CISMeF)
- WNT4 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SERKAL Syndrome [NCIt concept]
- SERKAL syndrome [ORDO Disease]
- Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) [SNOMED CT concept]
- sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs [MeSH Supplementary Concept]
- sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs [MeSH concept]

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