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Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa . [ 4 ]
COACH syndrome, also known as Joubert syndrome with hepatic defect, [4] is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: c erebellar vermis aplasia , o ligophrenia , congenital a taxia , c oloboma and h epatic fibrosis .
AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. [ 2 ]
Mutations in the RPGRIP1L gene are associated with Joubert syndrome and Meckel syndrome which belong to a group of developmental autosomal recessive disorders that are associated with cilium dysfunction. [2] Mutations in this gene are also associated with nephronophthisis. [5]
Joubert syndrome type 2 is disproportionately frequent among people of Jewish descent; this has been attributed to the resistance to intermarriage of this population. [36] Kaposi's sarcoma [37] Maple syrup urine disease [38] Mucolipidosis IV [39] Myeloproliferative neoplasms including polycythemia vera and essential thrombocythemia [40]
Gemignani syndrome, a.k.a. spinocerebellar ataxia-amyotrophy-deafness syndrome; Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, aka spinocerebellar ataxia, autosomal recessive 21 (SCAR21)
The gene CEP290 is a centrosomal protein that plays an important role in centrosome and cilia development. This gene is vital in the formation of the primary cilium, a small antenna-like projections of the cell membrane that plays an important role in the photoreceptors at the back of the retina (which detect light and color) and in the kidney, brain, and many other organs of the body.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.