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 58 76 30 6
Rp80 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 58 617781
MeSH 45 D012174
SNOMED-CT via HPO 70 238828009 65956007

Summaries for Retinitis Pigmentosa 80

UniProtKB/Swiss-Prot : 76 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 eye, bone and kidney, and related phenotypes are blindness and progressive visual loss

Description from OMIM: 617781

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 9.6 IFT140 LOC105371046
2 retinitis pigmentosa 9.5 IFT140 LOC105371046

Symptoms & Phenotypes for Retinitis Pigmentosa 80

Human phenotypes related to Retinitis Pigmentosa 80:

33
# Description HPO Frequency HPO Source Accession
1 blindness 33 HP:0000618
2 progressive visual loss 33 HP:0000529
3 macular atrophy 33 HP:0007401

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
vision loss, progressive
attenuated retinal vessels
macular atrophy
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 30 IFT140

Anatomical Context for Retinitis Pigmentosa 80

MalaCards organs/tissues related to Retinitis Pigmentosa 80:

42
Eye, Bone, Kidney

Publications for Retinitis Pigmentosa 80

Articles related to Retinitis Pigmentosa 80:

# Title Authors Year
1
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. ( 26968735 )
2016
2
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. ( 26359340 )
2016
3
Mutations in human IFT140 cause non-syndromic retinal degeneration. ( 26216056 )
2015
4
Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. ( 24698627 )
2014
5
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. ( 23418020 )
2013
6
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. ( 22503633 )
2012

Variations for Retinitis Pigmentosa 80

ClinVar genetic disease variations for Retinitis Pigmentosa 80:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT140 NM_014714.3(IFT140): c.1990G> A (p.Glu664Lys) single nucleotide variant Pathogenic rs387907192 GRCh37 Chromosome 16, 1614075: 1614075
2 IFT140 NM_014714.3(IFT140): c.1990G> A (p.Glu664Lys) single nucleotide variant Pathogenic rs387907192 GRCh38 Chromosome 16, 1564074: 1564074
3 IFT140 NM_014714.3(IFT140): c.2399+1G> T single nucleotide variant Pathogenic rs376586707 GRCh37 Chromosome 16, 1607935: 1607935
4 IFT140 NM_014714.3(IFT140): c.2399+1G> T single nucleotide variant Pathogenic rs376586707 GRCh38 Chromosome 16, 1557934: 1557934
5 IFT140 NM_014714.3(IFT140): c.4196T> C (p.Leu1399Pro) single nucleotide variant Pathogenic rs559371453 GRCh37 Chromosome 16, 1561138: 1561138
6 IFT140 NM_014714.3(IFT140): c.4196T> C (p.Leu1399Pro) single nucleotide variant Pathogenic rs559371453 GRCh38 Chromosome 16, 1511137: 1511137
7 IFT140 NM_014714.3(IFT140): c.1898_1901delATAA (p.Asn633Argfs) deletion Pathogenic rs1555487977 GRCh38 Chromosome 16, 1566161: 1566164
8 IFT140 NM_014714.3(IFT140): c.1898_1901delATAA (p.Asn633Argfs) deletion Pathogenic rs1555487977 GRCh37 Chromosome 16, 1616162: 1616165
9 IFT140 NM_014714.3(IFT140): c.985T> C (p.Cys329Arg) single nucleotide variant Pathogenic rs1441549097 GRCh38 Chromosome 16, 1587222: 1587222
10 IFT140 NM_014714.3(IFT140): c.985T> C (p.Cys329Arg) single nucleotide variant Pathogenic rs1441549097 GRCh37 Chromosome 16, 1637223: 1637223
11 IFT140 NM_014714.3(IFT140): c.1451C> T (p.Thr484Met) single nucleotide variant Pathogenic rs758052634 GRCh38 Chromosome 16, 1580832: 1580832
12 IFT140 NM_014714.3(IFT140): c.1451C> T (p.Thr484Met) single nucleotide variant Pathogenic rs758052634 GRCh37 Chromosome 16, 1630833: 1630833
13 IFT140 NM_014714.3(IFT140): c.2815T> C (p.Ser939Pro) single nucleotide variant Pathogenic rs145549969 GRCh38 Chromosome 16, 1525280: 1525280
14 IFT140 NM_014714.3(IFT140): c.2815T> C (p.Ser939Pro) single nucleotide variant Pathogenic rs145549969 GRCh37 Chromosome 16, 1575281: 1575281

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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