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Congenital abnormalities of the kidney and urinary tract

CAKUT is a large group of hereditary diseases which have in common congenital abnormalities. Most often malformations are not only restricted to kidney and urinary tract, but also other organs may be involved. The modes of inheritance are so variable as are the underlying genetic defects.

Systematic

Hereditary kidney diseases
Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
SALL4
Aplasia of lacrimal and salivary glands
FGF10
Autosomal dominant Robinow syndrome 1
WNT5A
Autosomal recessive Robinow syndrome
ROR2
BMP7
BNAR syndrome
FREM1
Brain malformations with urinary tract defects
NFIA
Branchio-oculo-facial syndrome
TFAP2A
Branchiootic syndrome
Branchiootic syndrome 1
EYA1
Branchiootic syndrome 3
SIX1
Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX5
SIX2
Townes-Brocks branchiootorenal-like syndrome
SALL1
CHARGE syndrome
CHD7
SEMA3E
TBX18
CHD1L
Congenital anomalies of kidney and urinary tract 1
DSTYK
Congenital anomalies of kidney and urinary tract 2
TBX18
Congenital hypogonadotropic hypogonadism with anosmia 1
ANOS1
Congenital hypogonadotropic hypogonadism without anosmia 5
CHD7
Denys-Drash syndrome
WT1
Fraser syndrome
FRAS1
FREM2
GRIP1
Frasier syndrome
WT1
Goldberg-Shprintzen syndrome
KIF1BP
IVIC syndrome
SALL4
Ivemark syndrome
Renal-hepatic-pancreatic dysplasia 1
NPHP3
Renal-hepatic-pancreatic dysplasia 2
NEK8
Kabuki syndrome
KDM6A
Kabuki syndrome 1
KMT2D
Kabuki syndrome 2
KDM6A
Lacrimoauriculodentodigital syndrome
FGF10
Mowat-Wilson syndrome
ZEB2
Papillorenal syndrome
PAX2
Renal cysts and diabetes (RCAD)
HNF1B
Renal dysplasia with hypopituitarism and diabetes
HNF1A
Renal hypodysplasia/aplasia
GREB1L
Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Renal hypodysplasia/aplasia 2
FGF20
Renal tubular dysgenesis
ACE
AGT
AGTR1
REN
SERKAL syndrome
WNT4
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome 1
GPC3
Simpson-Golabi-Behmel syndrome 2
OFD1
Smith-Lemli-Opitz syndrome
DHCR7
Somatic nephroblastoma
GPC3
WT1
Susceptibility to cystic renal dysplasia
BICC1
Syndromic microphthalmia 6
BMP4
Urofacial syndrome
HPSE2
Vesicoureteral reflux
Familial vesicoureteral reflux 2
ROBO2
Familial vesicoureteral reflux 3
SOX17
Familial vesicoureteral reflux 8
TNXB
WAGR syndrome
PAX6
WT1
Cystic kidney disease
Disorders of tubular solute transport
Hereditary glomerular disease
Hereditary metabolic kidney disease
Hereditary renal tumors
Interstitial kidney disease
Kidney disease appearing as endocrinological disorders
Thrombotic microangiopathies
Urolithiasis

References:

1.

Pope JC et al. (1999) How they begin and how they end: classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT.

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2.

Ichikawa I et al. (2002) Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT.

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3.

Nakanishi K et al. (2003) Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT).

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4.

Nakai H et al. (2003) Changing concepts in urological management of the congenital anomalies of kidney and urinary tract, CAKUT.

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5.

None (2007) Renal abnormalities and their developmental origin.

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6.

Winyard P et al. (2008) Dysplastic kidneys.

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7.

Rosen S et al. (2008) The kidney in congenital ureteropelvic junction obstruction: a spectrum from normal to nephrectomy.

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8.

None (2008) A new role for the renin-angiotensin system in the development of the ureteric bud and renal collecting system.

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9.

None (2009) What do we know about chronic renal failure in young adults? I. Primary renal disease.

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10.

Yerkes E et al. (1998) Role of angiotensin in the congenital anomalies of the kidney and urinary tract in the mouse and the human.

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11.

Orphanet article

Orphanet ID 93545 external link
Update: Aug. 14, 2020
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