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RP89
MCID: RTN233
MIFTS: 20
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Retinitis Pigmentosa 89 (RP89)
Categories:
Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Retinitis Pigmentosa 89:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
variable expressivity onset of symptoms in first decade of life based on a report of 1 patient (patient a) and an extended ashkenazi jewish family (last curated july 2020)
Inheritance:
autosomal dominant HPO:31
retinitis pigmentosa 89:
Inheritance autosomal dominant inheritance Onset and clinical course childhood onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Ear diseases |
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UniProtKB/Swiss-Prot :
73
Retinitis pigmentosa 89: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP89 is an autosomal dominant form associated with features of ciliopathy, including postaxial polydactyly, and renal and hepatic disease.
MalaCards based summary : Retinitis Pigmentosa 89, is also known as rp89. An important gene associated with Retinitis Pigmentosa 89 is KIF3B (Kinesin Family Member 3B). Related phenotypes are hepatic fibrosis and bicuspid aortic valve Disease Ontology : 12 A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has material basis in heterozygous mutation in KIF3B on chromosome 20q11.21. OMIM® : 57 Retinitis pigmentosa-89 (RP89) is characterized by classic features of RP as well as features of ciliopathy, including postaxial polydactyly and renal and hepatic disease. Onset of symptoms is within the first decade of life (Cogne et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000. (618955) (Updated 05-Mar-2021) |
Human phenotypes related to Retinitis Pigmentosa 89:31 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618955 (Updated 05-Mar-2021) |
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Articles related to Retinitis Pigmentosa 89:
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Genes related to Retinitis Pigmentosa 89 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Retinitis Pigmentosa 89:6
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Search
GEO
for disease gene expression data for Retinitis Pigmentosa 89.
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