Familial aplasia of the vermis

Common Name(s)

Familial aplasia of the vermis

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies ({26:Saraiva and Baraitser, 1992}; {30:Valente et al., 2005}). Genetic Heterogeneity of Joubert Syndrome See also JBTS2 ({608091}), caused by mutation in the TMEM216 gene ({613277}) on chromosome 11q13; JBTS3 ({608629}), caused by mutation in the AHI1 gene ({608894}) on chromosome 6q23; JBTS4 ({609583}), caused by mutation in the NPHP1 gene ({607100}) on chromosome 2q13; JBTS5 ({610188}), caused by mutation in the CEP290 gene, also called NPHP6 ({610142}), on chromosome 12q21.32; JBTS6 ({610688}), caused by mutation in the TMEM67 gene ({609884}) on chromosome 8q21; JBTS7 ({611560}), caused by mutation in the RPGRIP1L gene ({610937}) on chromosome 16q12.2; JBTS8 ({612291}), caused by mutation in the ARL13B ({608922}) on chromosome 3q11.2; JBTS9 ({612285}), caused by mutation in the CC2D2A gene ({612013}) on chromosome 4p15.3; JBTS10 ({300804}), caused by mutation in the CXORF5 gene ({300170}) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene ({612014}) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene ({611254}) on chromosome 15q26; JBTS13 ({614173}), caused by mutation in the TCTN1 gene ({609863}) on chromosome 12q24; JBTS14 ({614424}), caused by mutation in the TMEM237 gene ({614423}) on chromosome 2q33; JBTS15 ({614464}), caused by mutation in the CEP41 gene ({610523}) on chromosome 7q32; JBTS16 ({614465}), caused by mutation in the TMEM138 gene ({614459}) on chromosome 11q; JBTS17 ({614615}), caused by mutation in the C5ORF42 gene ({614571}) on chromosome 5p13; JBTS18 ({614815}), caused by mutation in the TCTN3 gene ({613847}) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene ({604577}) on chromosome 16q12; JBTS20 ({614970}), caused by mutation in the TMEM231 gene ({614949}) on chromosome 16q23; JBTS21 ({615636}), caused by mutation in the CSPP1 gene ({611654}) on chromosome 8q13; and JBTS22 ({615665}), caused by mutation in the PDE6D gene ({602676}) on chromosome 2q37.
 

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Condition Specific Organizations

Following organizations serve the condition "Familial aplasia of the vermis" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 12 Jan 2014

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Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 14 Mar 2014

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