SERKAL syndrome

SERKAL syndrome is an autosomal recessive disorder caused by mutations of the WNT4 gene. It is characterized by female-to-male SEx Reversion, Kidneys, Adrenal and Lung dysgenesis.

Systematic

Congenital abnormalities of the kidney and urinary tract
	Acro-renal-ocular syndrome
	Aplasia of lacrimal and salivary glands
	Autosomal dominant Robinow syndrome 1
	Autosomal recessive Robinow syndrome
	BMP7
	BNAR syndrome
	Brain malformations with urinary tract defects
	Branchio-oculo-facial syndrome
	Branchiootic syndrome
	Branchiootorenal dysplasia
	CHARGE syndrome
	CHD1L
	Congenital anomalies of kidney and urinary tract 1
	Congenital anomalies of kidney and urinary tract 2
	Congenital hypogonadotropic hypogonadism with anosmia 1
	Congenital hypogonadotropic hypogonadism without anosmia 5
	Denys-Drash syndrome
	Fraser syndrome
	Frasier syndrome
	Goldberg-Shprintzen syndrome
	IVIC syndrome
	Ivemark syndrome
	Kabuki syndrome
	Lacrimoauriculodentodigital syndrome
	Mowat-Wilson syndrome
	Papillorenal syndrome
	Renal cysts and diabetes (RCAD)
	Renal dysplasia with hypopituitarism and diabetes
	Renal hypodysplasia/aplasia
	Renal tubular dysgenesis
	SERKAL syndrome
		WNT4
	Simpson-Golabi-Behmel syndrome
	Smith-Lemli-Opitz syndrome
	Somatic nephroblastoma
	Susceptibility to cystic renal dysplasia
	Syndromic microphthalmia 6
	Urofacial syndrome
	Vesicoureteral reflux
	WAGR syndrome

References:

1.	Vainio S et al. (1999) Female development in mammals is regulated by Wnt-4 signalling.

2.	Mandel H et al. (2008) SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

3.	Heikkilä M et al. (2005) The partial female to male sex reversal in Wnt-4-deficient females involves induced expression of testosterone biosynthetic genes and testosterone production, and depends on androgen action.

4.	OMIM.ORG article Omim 611812

5.	Orphanet article Orphanet ID 139466

6.	Wikipedia article Wikipedia EN (Serkal_syndrome)

Update: June 23, 2025

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