RP80
MCID: RTN213
MIFTS: 26

Retinitis Pigmentosa 80 (RP80)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 80

MalaCards integrated aliases for Retinitis Pigmentosa 80:

Name: Retinitis Pigmentosa 80 57 74 29 6
Rp80 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
retinitis pigmentosa 80:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D012174

Summaries for Retinitis Pigmentosa 80

UniProtKB/Swiss-Prot : 74 Retinitis pigmentosa 80: 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. RP80 inheritance is autosomal recessive.

MalaCards based summary : Retinitis Pigmentosa 80, also known as rp80, is related to joubert syndrome with jeune asphyxiating thoracic dystrophy and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 80 is IFT140 (Intraflagellar Transport 140). Affiliated tissues include bone, eye and kidney, and related phenotypes are global developmental delay and cone-shaped epiphyses of the phalanges of the hand

More information from OMIM: 617781 PS268000

Related Diseases for Retinitis Pigmentosa 80

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 80 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 joubert syndrome with jeune asphyxiating thoracic dystrophy 9.4 LOC105371046 IFT140
2 retinitis pigmentosa 9.2 LOC105371046 IFT140

Symptoms & Phenotypes for Retinitis Pigmentosa 80

Human phenotypes related to Retinitis Pigmentosa 80:

32
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 very rare (1%) HP:0001263
2 cone-shaped epiphyses of the phalanges of the hand 32 very rare (1%) HP:0010230
3 blindness 32 HP:0000618
4 progressive visual loss 32 HP:0000529
5 macular atrophy 32 HP:0007401

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
macular atrophy
vision loss, progressive
attenuated retinal vessels
night blindness in infancy or early childhood
photophilia in infancy (in some patients)
more
Skeletal Hands:
cone-shaped phalangeal epiphyses (in some patients)

Neurologic Central Nervous System:
developmental delay (in some patients)

Clinical features from OMIM:

617781

Drugs & Therapeutics for Retinitis Pigmentosa 80

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 80

Genetic Tests for Retinitis Pigmentosa 80

Genetic tests related to Retinitis Pigmentosa 80:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 80 29 IFT140

Anatomical Context for Retinitis Pigmentosa 80

MalaCards organs/tissues related to Retinitis Pigmentosa 80:

41
Bone, Eye, Kidney

Publications for Retinitis Pigmentosa 80

Articles related to Retinitis Pigmentosa 80:

(show all 14)
# Title Authors PMID Year
1
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 8 71
26359340 2016
2
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 8 71
26968735 2016
3
Mutations in human IFT140 cause non-syndromic retinal degeneration. 8 71
26216056 2015
4
Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. 8 71
24698627 2014
5
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 71
26666451 2016
6
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 71
23418020 2013
7
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 71
22503633 2012
8
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 71
22234150 2012
9
Nonsyndromic Retinitis Pigmentosa Overview 71
20301590 2000
10
Rapid Isocratic Liquid Chromatographic Separation and Quantification of Tryptophan and Six kynurenine Metabolites in Biological Samples with Ultraviolet and Fluorimetric Detection. 38
22084598 2010
11
Development of a sensitive and specific enzyme-linked immunosorbent assay based on recombinant antigens for rapid detection of antibodies against Mycoplasma agalactiae in sheep. 38
17287317 2007
12
Pharmacokinetic study of puerarin in rat serum by liquid chromatography tandem mass spectrometry. 38
17221935 2007
13
Cytokine production and cytokine receptor expression by cells of the human first trimester placental-uterine interface. 38
9071564 1997
14
Neutralization of tumor necrosis factor alpha (TNF alpha) action on cell proliferation in rat blastocysts by antisense oligodeoxyribonucleotides directed against TNF alpha p60 receptor. 38
7543296 1995

Variations for Retinitis Pigmentosa 80

ClinVar genetic disease variations for Retinitis Pigmentosa 80:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IFT140 NM_014714.4(IFT140): c.4196T> C (p.Leu1399Pro) single nucleotide variant Pathogenic rs559371453 16:1561138-1561138 16:1511137-1511137
2 IFT140 NM_014714.4(IFT140): c.1898_1901del (p.Asn633fs) deletion Pathogenic rs1555487977 16:1616162-1616165 16:1566161-1566164
3 IFT140 NM_014714.4(IFT140): c.985T> C (p.Cys329Arg) single nucleotide variant Pathogenic rs1441549097 16:1637223-1637223 16:1587222-1587222
4 IFT140 NM_014714.4(IFT140): c.1451C> T (p.Thr484Met) single nucleotide variant Pathogenic rs758052634 16:1630833-1630833 16:1580832-1580832
5 IFT140 NM_014714.4(IFT140): c.2815T> C (p.Ser939Pro) single nucleotide variant Pathogenic rs145549969 16:1575281-1575281 16:1525280-1525280
6 IFT140 NM_014714.4(IFT140): c.1990G> A (p.Glu664Lys) single nucleotide variant Pathogenic rs387907192 16:1614075-1614075 16:1564074-1564074
7 IFT140 NM_014714.4(IFT140): c.2399+1G> T single nucleotide variant Pathogenic rs376586707 16:1607935-1607935 16:1557934-1557934
8 IFT140 NM_014714.4(IFT140): c.3070G> T (p.Glu1024Ter) single nucleotide variant Pathogenic 16:1574624-1574624 16:1524623-1524623
9 IFT140 NM_014714.4(IFT140): c.2650C> G (p.Arg884Gly) single nucleotide variant Likely pathogenic 16:1576006-1576006 16:1526005-1526005

Expression for Retinitis Pigmentosa 80

Search GEO for disease gene expression data for Retinitis Pigmentosa 80.

Pathways for Retinitis Pigmentosa 80

GO Terms for Retinitis Pigmentosa 80

Sources for Retinitis Pigmentosa 80

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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