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JBTS1
MCID: JBR020
MIFTS: 72
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Joubert Syndrome 1 (JBTS1)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Joubert Syndrome 1:
Characteristics:Orphanet epidemiological data:58
joubert syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Netherlands); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;
joubert syndrome and related disorders
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Respiratory diseases Liver diseases Mental diseases
ICD10:
32
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis External Ids:
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Genetics Home Reference :
25
Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
The hallmark feature of Joubert syndrome is a combination of brain abnormalities that together are known as the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. The molar tooth sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth when seen on an MRI.
Most infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, which contributes to difficulty coordinating movements (ataxia) in early childhood. Other characteristic features of the condition include episodes of unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal eye movements (ocular motor apraxia). Most affected individuals have delayed development and intellectual disability, which can range from mild to severe. Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism), low-set ears, and a triangle-shaped mouth.
Joubert syndrome can include a broad range of additional signs and symptoms. The condition is sometimes associated with other eye abnormalities (such as retinal dystrophy, which can cause vision loss, and coloboma, which is a gap or split in a structure of the eye), kidney disease (including polycystic kidney disease and nephronophthisis), liver disease, skeletal abnormalities (such as the presence of extra fingers and toes), or hormone (endocrine) problems. A combination of the characteristic features of Joubert syndrome and one or more of these additional signs and symptoms once characterized several separate disorders. Together, those disorders were referred to as Joubert syndrome and related disorders (JSRD). Now, however, any instances that involve the molar tooth sign, including those with these additional signs and symptoms, are usually considered Joubert syndrome.
MalaCards based summary : Joubert Syndrome 1, also known as joubert syndrome, is related to joubert syndrome 3 and joubert syndrome 4, and has symptoms including ataxia An important gene associated with Joubert Syndrome 1 is INPP5E (Inositol Polyphosphate-5-Phosphatase E), and among its related pathways/superpathways are Inositol phosphate metabolism and Phosphatidylinositol signaling system. The drugs Sumatriptan and Naproxen have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and liver, and related phenotypes are intellectual disability and global developmental delay Disease Ontology : 12 A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. NIH Rare Diseases : 52 Joubert syndrome is disorder of brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). Together, these cause the characteristic appearance of a molar tooth sign on MRI . Signs and symptoms can vary but commonly include weak muscle tone (hypotonia ); abnormal breathing patterns; abnormal eye movements; ataxia ; distinctive facial features; and intellectual disability . Various other abnormalities may also be present. Joubert syndrome may be caused by mutations in any of many genes . Inheritance is usually autosomal recessive , but rarely it may be X-linked recessive . Treatment is supportive and depends on the symptoms in each person. OMIM : 56 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 (Saraiva and Baraitser, 1992; Valente et al., 2005). (213300) NINDS : 53 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), abnormal eye movements, impaired intellectual development, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur. Many cases of Joubert syndrome appear to be sporadic (not inherited). In most other cases, Joubert syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in at least 10 different genes, including NPHP1, AHI1, and CEP290. KEGG : 36 Joubert syndrome and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. Joubert syndrome is associated with retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Most of the causative genes encode cilium-related proteins. UniProtKB/Swiss-Prot : 73 Joubert syndrome 1: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Wikipedia : 74 Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of... more...
GeneReviews:
NBK1325
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Human phenotypes related to Joubert Syndrome 1:58 31 (show top 50) (show all 70)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:213300UMLS symptoms related to Joubert Syndrome 1:ataxia MGI Mouse Phenotypes related to Joubert Syndrome 1:45 (show all 13)
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Drugs for Joubert Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 22)
Interventional clinical trials:
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MalaCards organs/tissues related to Joubert Syndrome 1:40
Brain,
Eye,
Liver,
Kidney,
Tongue,
Cerebellum,
Spinal Cord
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Articles related to Joubert Syndrome 1:(show top 50) (show all 789)
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- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Joubert Syndrome 1:6 (show top 50) (show all 1455)
UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 1:73 (show all 15)
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Search
GEO
for disease gene expression data for Joubert Syndrome 1.
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Pathways related to Joubert Syndrome 1 according to KEGG:36
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Cellular components related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:(show all 13)
Biological processes related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:(show all 24)
Molecular functions related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:
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