Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
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.

external link
7.

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

external link
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.

external link
9.

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

external link
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.

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
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.

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
30.

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

external link
31.

Orphanet article

Orphanet ID 475 external link
32.

Wikipedia Artikel

Wikipedia DE (Joubert-Syndrom) external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz