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Joubert-Syndrom

Das Joubert-Syndrom ist eine klinisch und genetisch sehr heterogene Krankheitsgruppe. Die Vererbung ist meist autosomal rezessiv. Zu den typischen klinischen Zeichen gehören neurologische Störungen, die aus einer Hypoplasie der Vermis cerebelli resultieren und sich radologisch mit dem typischen 'molar tooth sign' zeigen. Unregelmäßiger finden sich eine Retinadystrophie und Nierenzysten.

Gliederung

Ziliopathie
Acrocallosal Syndrom
Asphyxierende Thoraxdyplasie
COACH-Syndrom
Geistige Retardierung, stammbetonte Adipositas, Netzhautdystrophie und Mikropenis
Joubert-Syndrom
Joubert-Syndrom 01
INPP5E
Joubert-Syndrom 02
TMEM216
Joubert-Syndrom 03
AHI1
Joubert-Syndrom 04
NPHP1
Joubert-Syndrom 05
CEP290
Joubert-Syndrom 06
TMEM67
Joubert-Syndrom 07
RPGRIP1L
Joubert-Syndrom 08
ARL13B
Joubert-Syndrom 09
CC2D2A
Joubert-Syndrom 10
OFD1
Joubert-Syndrom 11
TTC21B
Joubert-Syndrom 12
KIF7
Joubert-Syndrom 13
TCTN1
Joubert-Syndrom 14
TMEM237
Joubert-Syndrom 15
CEP41
Joubert-Syndrom 16
TMEM138
Joubert-Syndrom 17
CPLANE1
Joubert-Syndrom 18
TCTN3
Joubert-Syndrom 19
ZNF423
Joubert-Syndrom 20
TMEM231
Joubert-Syndrom 21
CSPP1
Joubert-Syndrom 22
PDE6D
Joubert-Syndrom 23
KIAA0586
Joubert-Syndrom 24
TCTN2
Joubert-Syndrom 25
CEP104
Joubert-Syndrom 26
KIAA0556
Joubert-Syndrom 27
B9D1
Joubert-Syndrom 28
MKS1
Joubert-Syndrom 29
TMEM107
Joubert-Syndrom 30
ARMC9
Joubert-Syndrom 31
CEP120
Joubert-Syndrom 32
SUFU
Joubert-Syndrom 33
PIBF1
Joubert-Syndrom 34
B9D2
Joubert-Syndrom 35
ARL3
Kranioektodermale Dysplasie
Lebersche kongenitale Amaurose
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Nephronophthise
Orofaciodigitales Syndrom
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
Retinitis pigmentosa
Senior-Loken-Syndrom
Simpson-Golabi-Behmel-Syndrom

Referenzen:

1.

Bielas SL et al. (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

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2.

Spampinato MV et al. (2008) Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.

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3.

Braddock SR et al. (2007) The face of Joubert syndrome: a study of dysmorphology and anthropometry.

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4.

Valente EM et al. (2005) Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

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5.

Gould DB et al. (2004) Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome.

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6.

Keeler LC et al. (2003) Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

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7.

Valente EM et al. (2003) Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.

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8.

Blair IP et al. (2002) Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.

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9.

Natacci F et al. (2000) Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

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10.

Saar K et al. (1999) Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.

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11.

Yachnis AT et al. (1999) Neuropathology of Joubert syndrome.

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12.

Raynes HR et al. (1999) Joubert syndrome: monozygotic twins with discordant phenotypes.

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13.

Fennell EB et al. (1999) Cognition, behavior, and development in Joubert syndrome.

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14.

Maria BL et al. (1999) Clinical features and revised diagnostic criteria in Joubert syndrome.

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15.

Sztriha L et al. (1999) Joubert's syndrome: new cases and review of clinicopathologic correlation.

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16.

Lindhout D et al. (1980) The Joubert syndrome associated with bilateral chorioretinal coloboma.

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17.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

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18.

Joubert M et al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

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19.

Boltshauser E et al. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

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20.

Friede RL et al. (1978) Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.

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21.

Saraiva JM et al. (1992) Joubert syndrome: a review.

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22.

van Dorp DB et al. (1991) Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.

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23.

Cantani A et al. (1990) Joubert syndrome. Review of the fifty-three cases so far published.

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24.

Kendall B et al. (1990) Joubert syndrome: a clinico-radiological study.

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25.

Gustavson KH et al. (1971) Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome).

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26.

Haumont D et al. (1983) The Mohr syndrome: are there two variants?

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27.

Egger J et al. (1984) Mohr syndrome variant or Joubert-Boltshauser syndrome?

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28.

Laverda AM et al. (1984) Chorioretinal coloboma and Joubert syndrome: a nonrandom association.

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29.

Boltshauser E et al. (1981) Joubert syndrome: clinical and polygraphic observations in a further case.

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30.

Pellegrino JE et al. (1997) Clinical and molecular analysis in Joubert syndrome.

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31.

Orphanet article

Orphanet ID 475 external link
32.

Wikipedia Artikel

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