Susceptibility to cystic renal dysplasia

Susceptibility to cystic renal dysplasia is conferred by mutations of the BICC1 gene in autosomal dominant manner.

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
	Simpson-Golabi-Behmel syndrome
	Smith-Lemli-Opitz syndrome
	Somatic nephroblastoma
	Susceptibility to cystic renal dysplasia
		BICC1
	Syndromic microphthalmia 6
	Urofacial syndrome
	Vesicoureteral reflux
	WAGR syndrome

References:

1.	Kraus MR et al. (2012) Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia.

2.	Cole BR et al. (1976) Bilateral renal dysplasia in three siblings: report of a survivor.

3.	Sase M et al. (1996) Diffuse cystic renal dysplasia: nonsyndromal familial case.

4.	OMIM.ORG article Omim 601331

Update: June 23, 2025

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