RP72
MCID: RTN178
MIFTS: 32

Retinitis Pigmentosa 72 (RP72)

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

Aliases & Classifications for Retinitis Pigmentosa 72

MalaCards integrated aliases for Retinitis Pigmentosa 72:

Name: Retinitis Pigmentosa 72 56 12 73 29 6 15
Rp72 56 12 73
Retinitis Pigmentosa, Type 72 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset of symptoms, from second to fifth decade of life


HPO:

31
retinitis pigmentosa 72:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110395
OMIM 56 616469
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5

Summaries for Retinitis Pigmentosa 72

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 72: 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 72, also known as rp72, is related to retinitis pigmentosa 69 and retinitis pigmentosa 71. An important gene associated with Retinitis Pigmentosa 72 is ZNF408 (Zinc Finger Protein 408). The drugs Gemcitabine and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and retina, and related phenotypes are peripapillary atrophy and photophobia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the ZNF408 gene on chromosome 11p11.

More information from OMIM: 616469 PS268000

Related Diseases for Retinitis Pigmentosa 72

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 72 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 69 10.1 POMGNT1 ARHGEF18
2 retinitis pigmentosa 71 10.1 POMGNT1 ARHGEF18
3 retinitis pigmentosa 73 10.0 POMGNT1 ARHGEF18
4 retinitis pigmentosa 75 9.9 RPGR ARHGEF18
5 retinitis pigmentosa 70 9.9 POMGNT1 ARHGEF18
6 peripheral retinal degeneration 9.9 ZNF408 RPGR
7 psychosexual disorder 9.6 PDE5A ALDH7A1
8 sexual disorder 9.6 PDE5A ALDH7A1
9 impotence 9.2 PDE5A ALDH7A1
10 fundus dystrophy 8.8 ZNF408 RPGR ARHGEF18 ALDH7A1
11 retinitis pigmentosa 8.8 ZNF408 RPGR POMGNT1 ARHGEF18 ALDH7A1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 72:



Diseases related to Retinitis Pigmentosa 72

Symptoms & Phenotypes for Retinitis Pigmentosa 72

Human phenotypes related to Retinitis Pigmentosa 72:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 peripapillary atrophy 31 very rare (1%) HP:0500087
2 photophobia 31 HP:0000613
3 reduced visual acuity 31 HP:0007663
4 nyctalopia 31 HP:0000662
5 rod-cone dystrophy 31 HP:0000510
6 optic disc pallor 31 HP:0000543
7 constriction of peripheral visual field 31 HP:0001133
8 posterior subcapsular cataract 31 HP:0007787

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
photophobia
posterior subcapsular cataract
decreased visual acuity
night blindness
constricted visual fields
more

Clinical features from OMIM:

616469

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 72 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.44 POMGNT1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.44 POMGNT1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.44 POMGNT1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-170 9.44 ALDH7A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-210 9.44 ALDH7A1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 9.44 ALDH7A1 POMGNT1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.44 POMGNT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-3 9.44 POMGNT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-51 9.44 ALDH7A1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.44 ALDH7A1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.44 ALDH7A1 POMGNT1

Drugs & Therapeutics for Retinitis Pigmentosa 72

Drugs for Retinitis Pigmentosa 72 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 1 95058-81-4 60750
2 Anti-Infective Agents Phase 1
3 Immunologic Factors Phase 1
4 Antiviral Agents Phase 1
5 Immunosuppressive Agents Phase 1
6 Antimetabolites Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Study to Evaluate the Safety and Efficacy of RP72 Monotherapy and in Combination With Gemcitabine in Patients With Pancreatic Cancer Not yet recruiting NCT04338763 Phase 1 RP72;Gemcitabine

Search NIH Clinical Center for Retinitis Pigmentosa 72

Genetic Tests for Retinitis Pigmentosa 72

Genetic tests related to Retinitis Pigmentosa 72:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 72 29 ZNF408

Anatomical Context for Retinitis Pigmentosa 72

MalaCards organs/tissues related to Retinitis Pigmentosa 72:

40
Eye, Bone, Retina

Publications for Retinitis Pigmentosa 72

Articles related to Retinitis Pigmentosa 72:

# Title Authors PMID Year
1
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. 6 56
25882705 2015
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
5
Hannaella siamensis sp. nov. and Hannaella phetchabunensis sp. nov., two new anamorphic basidiomycetous yeast species isolated from plants. 61
25644481 2015

Variations for Retinitis Pigmentosa 72

ClinVar genetic disease variations for Retinitis Pigmentosa 72:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF408 NM_024741.3(ZNF408):c.359_360TG[2] (p.Ala122fs)short repeat Pathogenic 204316 rs875989821 11:46724281-46724282 11:46702731-46702732
2 ZNF408 NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys)SNV Likely pathogenic 204317 rs781192528 11:46726871-46726871 11:46705321-46705321

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 72:

73
# Symbol AA change Variation ID SNP ID
1 ZNF408 p.Arg541Cys VAR_074615 rs781192528

Expression for Retinitis Pigmentosa 72

Search GEO for disease gene expression data for Retinitis Pigmentosa 72.

Pathways for Retinitis Pigmentosa 72

GO Terms for Retinitis Pigmentosa 72

Sources for Retinitis Pigmentosa 72

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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