Joubert Syndrome 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases
Aliases & Descriptions for Joubert Syndrome 1:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Netherlands); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Nephrological diseases
OMIM:50 Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the... (213300) more...
MalaCards based summary: Joubert Syndrome 1, also known as joubert syndrome, is related to cor triatriatum sinister and cor triatriatum, and has symptoms including oculomotor apraxia, muscular hypotonia and apnea. An important gene associated with Joubert Syndrome 1 is INPP5E (Inositol Polyphosphate-5-Phosphatase E), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain, eye and spinal cord, and related mouse phenotypes are liver/biliary system and respiratory system.
Disease Ontology:11 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:46 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. last updated: 2/15/2016
UniProtKB/Swiss-Prot:68 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. Joubert syndrome 23: A mild form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly.
NINDS:47 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the
Genetics Home Reference:24 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.
Description from OMIM:50 616490
Symptoms by clinical synopsis from OMIM:213300
Clinical features from OMIM:213300,616490
Symptoms:52 (show all 37)
HPO human phenotypes related to Joubert Syndrome 1:(show all 78)
UMLS symptoms related to Joubert Syndrome 1:ataxia
Drugs for Joubert Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Joubert Syndrome 1
MalaCards organs/tissues related to Joubert Syndrome 1:34
Brain, Eye, Spinal cord, Liver, Heart, Pituitary, Tongue
MGI Mouse Phenotypes related to Joubert Syndrome 1:39 (show all 14)
UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 1:68
Clinvar genetic disease variations for Joubert Syndrome 1:5 (show all 67)
Search GEO for disease gene expression data for Joubert Syndrome 1.
Pathways related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:
Cellular components related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:(show all 12)
Biological processes related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:(show all 21)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet