Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital anomalies of kidney and urinary tract 1

CAKUT1 is the acronym for congenital anomalies of kidney and urinary tract 1 an autosomal dominant disorder caused by mutations of the DSTYK 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
DSTYK
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
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome

References:

1.

Sanna-Cherchi S et al. (2013) Mutations in DSTYK and Dominant Urinary Tract Malformations.

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2.

None (1977) Heterogeneity of bilateral renal agenesis.

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3.

McGillivray BC et al. (1990) Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia.

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4.

McPherson E et al. (1987) Dominantly inherited renal adysplasia.

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5.

Buchta RM et al. (1973) Familial bilateral renal agenesis and hereditary renal adysplasia.

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6.

Hakim RM et al. (1984) Hypertension and proteinuria: long-term sequelae of uninephrectomy in humans.

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7.

Kiprov DD et al. (1982) Focal and segmental glomerulosclerosis and porteinuria associated with unilateral renal agenesis.

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8.

Doray B et al. (1999) Hereditary renal adysplasia in a three generations family.

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9.

Li Volti S et al. () Non-allelic heterogeneity in familial unilateral renal adysplasia.

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10.

GORVOY JD et al. (1962) Unilateral renal agenesis in two siblings. Case report.

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11.

Sanna-Cherchi S et al. (2007) Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.

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12.

None (1943) Two Cases of Congenital Absence of One Kidney in Same Family.

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13.

Renkema KY et al. (2011) Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).

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14.

OMIM.ORG article

Omim 610805 [^]
Update: April 29, 2019