RP84
MCID: RTN218
MIFTS: 20

Retinitis Pigmentosa 84 (RP84)

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

Aliases & Classifications for Retinitis Pigmentosa 84

MalaCards integrated aliases for Retinitis Pigmentosa 84:

Name: Retinitis Pigmentosa 84 57 12 73 29 6
Rp84 57 12 73
Retinitis Pigmentosa, Type 84 39

Characteristics:

OMIM®:

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

Miscellaneous:
age of onset between 3-4 years
onset of blindness between 7-8 years


HPO:

31
retinitis pigmentosa 84:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112141
OMIM® 57 618220
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174

Summaries for Retinitis Pigmentosa 84

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 84: 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. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue.

MalaCards based summary : Retinitis Pigmentosa 84, is also known as rp84. An important gene associated with Retinitis Pigmentosa 84 is DHX38 (DEAH-Box Helicase 38). Related phenotypes are cataract and macular coloboma

Disease Ontology : 12 A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has material basis in homozygous or compound heterozygous mutation in DHX38 on chromosome 16q22.2.

OMIM® : 57 RP84 is an autosomal recessive, early-onset form of retinitis pigmentosa, with onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7. Some patients retain light perception (Ajmal et al., 2014; Latif et al., 2018). (618220) (Updated 05-Mar-2021)

Related Diseases for Retinitis Pigmentosa 84

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 84

Human phenotypes related to Retinitis Pigmentosa 84:

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 very rare (1%) HP:0000518
2 macular coloboma 31 very rare (1%) HP:0001116
3 rod-cone dystrophy 31 HP:0000510
4 macular atrophy 31 HP:0007401

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
macular atrophy
retinitis pigmentosa
cataracts (in some patients)
attenuated vessels
no light perception (in some patients)
more

Clinical features from OMIM®:

618220 (Updated 05-Mar-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 84

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 84

Genetic Tests for Retinitis Pigmentosa 84

Genetic tests related to Retinitis Pigmentosa 84:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 84 29 DHX38

Anatomical Context for Retinitis Pigmentosa 84

Publications for Retinitis Pigmentosa 84

Articles related to Retinitis Pigmentosa 84:

# Title Authors PMID Year
1
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. 57 6
30208423 2018
2
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. 57 6
24737827 2014

Variations for Retinitis Pigmentosa 84

ClinVar genetic disease variations for Retinitis Pigmentosa 84:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHX38 NM_014003.4(DHX38):c.971G>A (p.Arg324Gln) SNV Likely pathogenic 592160 rs766053952 16:72133641-72133641 16:72099742-72099742
2 DHX38 NM_014003.4(DHX38):c.995G>A (p.Gly332Asp) SNV Uncertain significance 140595 rs587777554 16:72133665-72133665 16:72099766-72099766

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 84:

73
# Symbol AA change Variation ID SNP ID
1 DHX38 p.Arg324Gln VAR_081338 rs766053952

Expression for Retinitis Pigmentosa 84

Search GEO for disease gene expression data for Retinitis Pigmentosa 84.

Pathways for Retinitis Pigmentosa 84

GO Terms for Retinitis Pigmentosa 84

Sources for Retinitis Pigmentosa 84

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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