RP89
MCID: RTN233
MIFTS: 20

Retinitis Pigmentosa 89 (RP89)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 89

MalaCards integrated aliases for Retinitis Pigmentosa 89:

Name: Retinitis Pigmentosa 89 57 12 73 6
Rp89 57 12 73

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:



External Ids:

Disease Ontology 12 DOID:0112146
OMIM® 57 618955
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
MedGen 41 CN283270

Summaries for Retinitis Pigmentosa 89

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)

Related Diseases for Retinitis Pigmentosa 89

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 89

Human phenotypes related to Retinitis Pigmentosa 89:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hepatic fibrosis 31 very rare (1%) HP:0001395
2 bicuspid aortic valve 31 very rare (1%) HP:0001647
3 esophageal varix 31 very rare (1%) HP:0002040
4 hepatosplenomegaly 31 very rare (1%) HP:0001433
5 micronodular cirrhosis 31 very rare (1%) HP:0001413
6 intrahepatic bile duct dilatation 31 very rare (1%) HP:0033149
7 nyctalopia 31 HP:0000662
8 rod-cone dystrophy 31 HP:0000510
9 constriction of peripheral visual field 31 HP:0001133
10 postaxial polydactyly 31 HP:0100259
11 retinal thinning 31 HP:0030329
12 hyperautofluorescent retinal lesion 31 HP:0025158
13 abnormal light-adapted flicker electroretinogram 31 HP:0030473

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Hands:
postaxial polydactyly

Head And Neck Eyes:
retinal thinning
retinitis pigmentosa
constricted visual field
difficulties with night vision
increased choroidal vascularization in periphery
more
Cardiovascular Heart:
bicuspid aortic valve (patient a)

Abdomen Gastrointestinal:
esophageal varices (patient a)

Skeletal Feet:
postaxial polydactyly

Abdomen Liver:
hepatomegaly (patient a)
dilation of intrahepatic biliary ducts (patient a)
micronodular cirrhosis (patient a)
annular fibrosis (patient a)
persistent peripheral biliary neoductules (patient a)

Abdomen Spleen:
splenomegaly (patient a)

Clinical features from OMIM®:

618955 (Updated 05-Mar-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 89

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 89

Genetic Tests for Retinitis Pigmentosa 89

Anatomical Context for Retinitis Pigmentosa 89

Publications for Retinitis Pigmentosa 89

Articles related to Retinitis Pigmentosa 89:

# Title Authors PMID Year
1
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. 6 57
32386558 2020
2
Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal Cats. 57
26258614 2015
3
Survival of the Apical Papilla and Its Resident Stem Cells in a Case of Advanced Pulpal Necrosis and Apical Periodontitis. 61
28190588 2017
4
Efficient functionalization of alginate biomaterials. 61
26708091 2016
5
The type and composition of alginate and hyaluronic-based hydrogels influence the viability of stem cells of the apical papilla. 61
25182372 2014

Variations for Retinitis Pigmentosa 89

ClinVar genetic disease variations for Retinitis Pigmentosa 89:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF3B NM_004798.4(KIF3B):c.748G>C (p.Glu250Gln) SNV Pathogenic 973171 20:30898328-30898328 20:32310525-32310525
2 KIF3B NM_004798.4(KIF3B):c.1568T>C (p.Leu523Pro) SNV Pathogenic 973172 20:30904391-30904391 20:32316588-32316588

Expression for Retinitis Pigmentosa 89

Search GEO for disease gene expression data for Retinitis Pigmentosa 89.

Pathways for Retinitis Pigmentosa 89

GO Terms for Retinitis Pigmentosa 89

Sources for Retinitis Pigmentosa 89

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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