Orphanet: SERKAL syndrome
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SERKAL syndrome

Disease definition

SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

ORPHA:139466

Classification level: Disorder
  • Synonym(s):
    • Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal
  • ICD-10: Q87.8
  • OMIM: 611812
  • UMLS: C2678492
  • MeSH: -
  • GARD: 10302
  • MedDRA: -

Summary

Epidemiology

The syndrome is lethal and has been described in three foetuses.

Etiology

It is caused by homozygous missense mutations in the WNT4 gene.

Genetic counseling

It is transmitted as an autosomal recessive trait.

- Last update: May 2008

  A summary on this disease is available in Deutsch (2008) Español (2008) Italiano (2008) Nederlands (2008) Português (2008)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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