Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kongenitale Anomalien der Niere und des Harntraktes 2

CAKUT2 bezeichnet kongenitale Anomalien der Niere und des Harntraktes 2 die durch Mutationen im TBX18-Gen hervorgerufen werden. Die Vererbung ist autosomal dominant.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Akro-reno-okuläres Syndrom
Autosomal dominantes Robinow-Syndrom 1
BMP7
BNAR-Syndrom
Branchio-okulo-faziales Syndrom
Branchio-oto-renale Dysplasie
Branchiootische Syndrom
CHARGE-Syndrom
CHD1L
Denys-Drash-Syndrom
Fraser-Syndrom
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Hirnmalformation mit Urogenitaldefekten
IVIC-Syndrom
Ivemark-Syndrom
Kabuki-Syndrom
Kongenitale Anomalien der Niere und des Harntraktes 1
Kongenitale Anomalien der Niere und des Harntraktes 2
TBX18
Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
Lakrimo-aurikulo-dento-digitales Syndrom
Mowat-Wilson-Syndrom
Neigung zu zystischen Nierenfehlbildung
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renal-hepatisch-pankreatische Dysplasie
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
SERKAL-Syndrom
Simpson-Golabi-Behmel-Syndrom
Smith-Lemli-Opitz-Syndrom
Somatisches Nephroblastom
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
Urofaziales Syndrom
Vesicoureteraler Reflux
WAGR-Syndrom

Referenzen:

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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