Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Renal-hepatic-pancreatic dysplasia
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.

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2.

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

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3.

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

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Update: Sept. 26, 2018