RP69
MCID: RTN166
MIFTS: 25
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Retinitis Pigmentosa 69 (RP69)
Categories:
Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Retinitis Pigmentosa 69:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
diagnosis in the second decade of life HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Ear diseases
ICD10:
32
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UniProtKB/Swiss-Prot :
73
Retinitis pigmentosa 69: 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. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
MalaCards based summary : Retinitis Pigmentosa 69, also known as rp69, is related to retinitis pigmentosa 72 and retinitis pigmentosa 70. An important gene associated with Retinitis Pigmentosa 69 is KIZ (Kizuna Centrosomal Protein). Affiliated tissues include retina and eye, and related phenotypes are rod-cone dystrophy and pigmentary retinopathy Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the KIZ gene on chromosome 20p11. OMIM® : 57 Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by El Shamieh et al., 2014). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (615780) (Updated 05-Mar-2021) |
Human phenotypes related to Retinitis Pigmentosa 69:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615780 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Retinitis Pigmentosa 69:40
Retina,
Eye
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Articles related to Retinitis Pigmentosa 69:
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ClinVar genetic disease variations for Retinitis Pigmentosa 69:6
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Search
GEO
for disease gene expression data for Retinitis Pigmentosa 69.
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