Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital anomalies of kidney and urinary tract 2

CAKUT2 is the acronym for congenital anomalies of kidney and urinary tract 2 an autosomal dominant disorder caused by mutations of the TBX18 gene.

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
TBX18
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
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome

References:

1.

Vivante A et. al. (2015) Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

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2.

Izquierdo L et. al. (1992) Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p.

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3.

Mackintosh P et. al. (1989) HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction.

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4.

Grosse FR et. al. (1973) Familial hydronephrosis.

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5.

Simpson JL et. al. (1970) Familial urinary tract anomalies.

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6.

Robson WL et. al. (1994) Renal agenesis, multicystic dysplasia, and uretero-pelvic junction obstruction--a common pathogenesis?

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7.

Fryns JP et. al. (1993) Hereditary hydronephrosis and the short arm of chromosome 6.

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8.

Groenen PM et. al. (1996) Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia.

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9.

Groenen PM et. al. (1996) Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia.

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10.

Santavá A et. al. (1997) Familial hydronephrosis unlinked to the HLA complex.

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11.

McHale D et. al. (1996) Further evidence of genetic heterogeneity in hereditary hydronephrosis.

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12.

Groenen PM et. al. (1998) Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia.

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13.

None (1954) Hereditary unilateral hydronephrosis.

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14.

None (1955) Familial hydronephrosis.

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15.

JEWELL JH et. al. (1962) Unilateral hereditary hydronephrosis: a report of four cases in three consecutive generations.

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16.

AARON G et. al. (1948) Hydronephrosis due to aberrant vessels; remarkable familial incidence with report of cases.

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17.

None (1945) Congenital Bilateral Megalo-ureters with Hydronephrosis: A Remarkable Family History.

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Update: Sept. 26, 2018