RP90
MCID: RTN234
MIFTS: 23

Retinitis Pigmentosa 90 (RP90)

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

Aliases & Classifications for Retinitis Pigmentosa 90

MalaCards integrated aliases for Retinitis Pigmentosa 90:

Name: Retinitis Pigmentosa 90 57 12 6
Rp90 57 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
retinitis pigmentosa 90:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset infantile onset childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0112147
OMIM® 57 619007
OMIM Phenotypic Series 57 PS268000

Summaries for Retinitis Pigmentosa 90

OMIM® : 57 Retinitis pigmentosa-90 (RP90) is characterized by early-onset night blindness, within the first decade of life. Patients exhibit other typical features of RP, including retinal vessel attenuation, optic disc pallor, and retinal pigment epithelium (RPE) atrophy and pigmentation abnormalities. Macular pseudocoloboma and cystoid macular edema have also been observed (Pierrache et al., 2017). For a discussion of genetic heterogeneity of RP, see 268000. (619007) (Updated 05-Mar-2021)

MalaCards based summary : Retinitis Pigmentosa 90, is also known as rp90. An important gene associated with Retinitis Pigmentosa 90 is IDH3A (Isocitrate Dehydrogenase (NAD(+)) 3 Catalytic Subunit Alpha). Affiliated tissues include bone and retina, and related phenotypes are strabismus and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has material basis in homozygous or compound heterozygous mutation in IDH3A on chromosome 15q25.1.

Related Diseases for Retinitis Pigmentosa 90

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 90

Human phenotypes related to Retinitis Pigmentosa 90:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 strabismus 31 very rare (1%) HP:0000486
2 nyctalopia 31 very rare (1%) HP:0000662
3 constriction of peripheral visual field 31 very rare (1%) HP:0001133
4 attenuation of retinal blood vessels 31 very rare (1%) HP:0007843
5 cystoid macular edema 31 very rare (1%) HP:0011505
6 bone spicule pigmentation of the retina 31 very rare (1%) HP:0007737
7 hyperautofluorescent retinal lesion 31 very rare (1%) HP:0025158
8 reduced visual acuity 31 HP:0007663
9 retinal pigment epithelial atrophy 31 HP:0007722

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
reduced visual acuity
cystoid macular edema
more

Clinical features from OMIM®:

619007 (Updated 05-Mar-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 90

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 90

Genetic Tests for Retinitis Pigmentosa 90

Anatomical Context for Retinitis Pigmentosa 90

MalaCards organs/tissues related to Retinitis Pigmentosa 90:

40
Bone, Retina

Publications for Retinitis Pigmentosa 90

Articles related to Retinitis Pigmentosa 90:

# Title Authors PMID Year
1
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. 6 57
31012789 2019
2
A novel variant in IDH3A identified in a case with Leber congenital amaurosis accompanied by macular pseudocoloboma. 57 6
30058936 2018
3
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. 6 57
28412069 2017
4
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy. 6
28058510 2017
5
Corneal Posterior Curvature Changes After Phacoemulsification Cataract Surgery with 2.75 mm Corneal Incision. 61
31263721 2019
6
Effects of reperfusion on arrhythmias and death after coronary artery occlusion in the rat: increased electrical stability independent of myocardial salvage. 61
9669279 1998
7
A comparison of the effect of ski sidecut on three-dimensional knee joint kinematics during a ski run. 61
9491480 1997

Variations for Retinitis Pigmentosa 90

ClinVar genetic disease variations for Retinitis Pigmentosa 90:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IDH3A NM_005530.3(IDH3A):c.911C>A (p.Pro304His) SNV Pathogenic 812331 rs756712426 15:78458538-78458538 15:78166196-78166196
2 IDH3A NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) SNV Pathogenic 812332 rs149862950 15:78458565-78458565 15:78166223-78166223
3 IDH3A NM_005530.3(IDH3A):c.716T>C (p.Met239Thr) SNV Pathogenic 977468 15:78456059-78456059 15:78163717-78163717
4 IDH3A NM_005530.3(IDH3A):c.403del (p.Thr135fs) Deletion Pathogenic 977469 15:78454033-78454033 15:78161691-78161691
5 IDH3A NM_005530.3(IDH3A):c.524C>T (p.Ala175Val) SNV Pathogenic 977470 15:78454622-78454622 15:78162280-78162280
6 IDH3A NM_005530.3(IDH3A):c.463G>T (p.Gly155Ter) SNV Pathogenic 977471 15:78454096-78454096 15:78161754-78161754
7 IDH3A NM_005530.3(IDH3A):c.946C>T (p.Arg316Cys) SNV Pathogenic 977472 15:78458573-78458573 15:78166231-78166231
8 IDH3A NM_005530.3(IDH3A):c.612G>A (p.Met204Ile) SNV Pathogenic 977473 15:78455849-78455849 15:78163507-78163507
9 IDH3A NM_005530.3(IDH3A):c.364G>A (p.Ala122Thr) SNV Pathogenic 977474 15:78453997-78453997 15:78161655-78161655

Expression for Retinitis Pigmentosa 90

Search GEO for disease gene expression data for Retinitis Pigmentosa 90.

Pathways for Retinitis Pigmentosa 90

GO Terms for Retinitis Pigmentosa 90

Sources for Retinitis Pigmentosa 90

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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