SERKAL syndrome

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SERKAL syndrome2016-11-28T03:08:54+00:00

SERKAL syndrome 

GENETICS, GYNAECOLOGY

An über rare–one cohort in the world literature–autosomal recessive condition (OMIM:611812) characterised by the acronym SERKAL:

• (female) SEx Reversal with dysgenesis of

Kidneys

Adrenals, and

Lungs

SERKAL was described in a consanguineous Arab Muslim cohort, whose affected infants died shortly after birth. 

Molecular pathology Loss-of-function mutation of WNT4 which, with its cognate nuclear receptor, antagonises testis-determining factor, controlling female development and preventing testes formation, cause SERKAL syndrome. 

Synonyms Female sex reversal with dysgenesis of kidneys, adrenals, and lungs, sex reversal with dysgenesis of kidneys, adrenals, and lungs 

References http://www.uniprot.org/uniprot/P56705

http://www.omim.org/entry/611812

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