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Meckel-Syndrom

Das Meckel-Gruber-Syndrom ist ein seltenes lethales Fehlbildungssyndrom welches viele Organe betrifft. Besonders typische Veränderungen sind die okzipitale Enzephalozele, polyzystische Nieren und Polydaktylie.

Gliederung

Ziliopathie
Acrocallosal Syndrom
Asphyxierende Thoraxdyplasie
COACH-Syndrom
Geistige Retardierung, stammbetonte Adipositas, Netzhautdystrophie und Mikropenis
Joubert-Syndrom
Kranioektodermale Dysplasie
Lebersche kongenitale Amaurose
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Meckel-Syndrom 02
TMEM216
Meckel-Syndrom 03
TMEM67
Meckel-Syndrom 05
RPGRIP1L
Meckel-Syndrom 06
CC2D2A
Meckel-Syndrom 08
TCTN2
Meckel-Syndrom 09
B9D1
Meckel-Syndrom 10
B9D2
Meckel-Syndrom 11
TMEM231
Meckel-Syndrom 13
TMEM107
Nephronophthise
Orofaciodigitales Syndrom
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
Retinitis pigmentosa
Senior-Loken-Syndrom
Simpson-Golabi-Behmel-Syndrom

Referenzen:

1.

Plauchu H et al. (1981) [Meckel syndrome. Difficulties in prenatal diagnosis caused by variability of expression (observations on two families)].

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2.

Hsia YE et al. (1971) Genetics of the Meckel syndrome (dysencephalia splanchnocystica).

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3.

Walbaum R et al. (1967) [Familial polydactyly with neuro-cranial dysplasia].

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4.

Tucker CC et al. (1966) Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.

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5.

Simopoulos AP et al. (1967) Polycystic kidneys, internal hydrocephalus and polydactylism in newborn siblings.

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6.

None (1984) Johann Friedrich Meckel the Younger (1781-1833).

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7.

None (1984) Gross anatomical studies of a newborn infant with the Meckel syndrome.

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8.

Lurie IW et al. (1984) Meckel syndrome in different populations.

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9.

Salonen R et al. (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects.

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10.

Majewski F et al. (1983) Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

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11.

Fryns JP et al. (1980) Prenatal diagnosis of Meckel syndrome.

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12.

Verjaal M et al. (1980) Oligohydramnios hampering prenatal diagnosis of Meckel syndrome.

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13.

Fraser FC et al. (1981) Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly".

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14.

None (1981) Phenotypic variation in Meckel syndrome.

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15.

Kim SK et al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

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16.

Summers MC et al. (1995) Dandy-Walker malformation in the Meckel syndrome.

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17.

Nelson J et al. (1994) Polydactyly in a carrier of the gene for the Meckel syndrome.

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18.

Wright C et al. (1994) Meckel syndrome: what are the minimum diagnostic criteria?

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19.

None (1993) On Saraiva and Baraitser and Joubert syndrome: a review.

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20.

Genuardi M et al. (1993) Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

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21.

Al-Gazali LI et al. (1996) Meckel syndrome and Dandy Walker malformation.

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22.

Paavola P et al. (1997) Clinical and genetic heterogeneity in Meckel syndrome.

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23.

Gulati R et al. (1997) Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?

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24.

Castilla EE et al. (1998) Associated anomalies in individuals with polydactyly.

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25.

Paavola P et al. (1999) High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.

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26.

Opitz JM et al. (2006) Meckel on developmental pathology.

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27.

Logan CV et al. (2011) Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

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28.

None (1970) Johann Friedrich Meckel, the Younger (1781-1833).

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29.

Karmous-Benailly H et al. (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

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30.

Consugar MB et al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

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31.

None (1984) The Meckel syndrome: clinicopathological findings in 67 patients.

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32.

Kyttälä M et al. (2006) MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

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33.

Auber B et al. (2007) A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

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34.

Weatherbee SD et al. (2009) A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.

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35.

Adams M et al. (2012) A meckelin-filamin A interaction mediates ciliogenesis.

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36.

Valente EM et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

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37.

Shaheen R et al. (2011) A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

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38.

Shaheen R et al. (2013) Mutations in TMEM231 cause Meckel-Gruber syndrome.

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39.

Ahdab-Barmada M et al. (1990) A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.

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40.

Paavola P et al. (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

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41.

Roume J et al. (1998) A gene for Meckel syndrome maps to chromosome 11q13.

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42.

Frank V et al. (2008) Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

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43.

Simpson JL et al. (1991) Genetic heterogeneity in neural tube defects.

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44.

Walpole IR et al. (1991) Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?

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45.

Herriot R et al. (1991) Dandy-Walker malformation in the Meckel syndrome.

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46.

Farag TI et al. (1990) Phenotypic variability in Meckel-Gruber syndrome.

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47.

Pachì A et al. (1989) Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case.

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48.

Blankenberg TA et al. (1987) Pathology of renal and hepatic anomalies in Meckel syndrome.

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49.

None (1986) Distal obstructive uropathy with polydactyly: a new syndrome?

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50.

Rapola J et al. (1985) Visceral anomalies in the Meckel syndrome.

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51.

Young ID et al. (1985) High incidence of Meckel's syndrome in Gujarati Indians.

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52.

Fitch N et al. (1973) The Meckel syndrome with limited expression in relatives.

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53.

Naffah J et al. (1972) [Three new cases of Meckel's syndrome or Gruber's splanchnocystic dysencephaly in siblings. Anatomo-pathologic and cytogenetic study. Nosologic discussion].

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54.

Mecke S et al. (1971) Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.

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55.

Orphanet article

Orphanet ID 564 external link
56.

Wikipedia Artikel

Wikipedia DE (Meckel-Syndrom) external link
Update: 14. August 2020
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