MCID: RTN134
MIFTS: 31

Retinitis Pigmentosa 40

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 40

MalaCards integrated aliases for Retinitis Pigmentosa 40:

Name: Retinitis Pigmentosa 40 57 12 75 29 6 15 73
Rp40 57 12 75
Retinitis Pigmentosa-40 57 13
Retinitis Pigmentosa, Type 40 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
retinitis pigmentosa 40:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613801
Disease Ontology 12 DOID:0110375
ICD10 33 H35.5
MedGen 42 C3151107
MeSH 44 D012174
SNOMED-CT via HPO 69 258211005 28835009
UMLS 73 C3151107

Summaries for Retinitis Pigmentosa 40

UniProtKB/Swiss-Prot : 75 Retinitis pigmentosa 40: 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 40, also known as rp40, is related to diphyllobothriasis and gastrointestinal neuroendocrine benign tumor. An important gene associated with Retinitis Pigmentosa 40 is PDE6B (Phosphodiesterase 6B), and among its related pathways/superpathways is Salivary secretion. Affiliated tissues include bone and eye, and related phenotypes are rod-cone dystrophy and abnormal light- and dark-adapted electroretinogram

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PDE6B gene on chromosome 4p16.

Description from OMIM: 613801

Related Diseases for Retinitis Pigmentosa 40

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 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 40 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 diphyllobothriasis 10.2 GAST MT-CO1
2 gastrointestinal neuroendocrine benign tumor 10.1 GAST SST
3 gastric neuroendocrine neoplasm 10.1 GAST SST
4 pylorospasm 10.1 GAST SST
5 postcholecystectomy syndrome 10.1 GAST SST
6 hyperinsulinemic hypoglycemia, familial, 2 10.1 GAST SST
7 duodenogastric reflux 10.1 GAST SST
8 vipoma 10.1 GAST SST
9 pernicious anemia 10.0 GAST SST
10 zollinger-ellison syndrome 10.0 GAST SST
11 gastrinoma 10.0 GAST SST
12 mixed ductal-endocrine carcinoma 10.0 GAST SST
13 islet cell tumor 9.9 GAST SST
14 serotonin syndrome 9.9 GAST SST
15 stomach disease 9.8 GAST SST
16 pancreatic somatostatinoma 9.8 PPY SST
17 duodenal somatostatinoma 9.7 PPY SST
18 atrophic gastritis 9.7 GAST SST
19 non-functioning pancreatic endocrine tumor 9.7 GAST PPY
20 duodenal ulcer 9.6 GAST SST
21 endocrine pancreas disease 9.6 PPY SST
22 pancreas disease 9.5 PPY SST
23 endocrine gland cancer 9.3 GAST SST
24 pancreatic cholera 9.2 GAST PPY SST
25 duodenal gastrinoma 9.2 GAST PPY SST

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 40:



Diseases related to Retinitis Pigmentosa 40

Symptoms & Phenotypes for Retinitis Pigmentosa 40

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinitis pigmentosa
intraretinal bone-spicule pigment
attenuated retinal vessels
absent night vision
abnormal rod and cone electroretinograms


Clinical features from OMIM:

613801

Human phenotypes related to Retinitis Pigmentosa 40:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 abnormal light- and dark-adapted electroretinogram 32 HP:0008323

MGI Mouse Phenotypes related to Retinitis Pigmentosa 40:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.17 CA2 EEF1A1 GAST MAVS MT-CO1 SST

Drugs & Therapeutics for Retinitis Pigmentosa 40

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 40

Genetic Tests for Retinitis Pigmentosa 40

Genetic tests related to Retinitis Pigmentosa 40:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 40 29 PDE6B

Anatomical Context for Retinitis Pigmentosa 40

MalaCards organs/tissues related to Retinitis Pigmentosa 40:

41
Bone, Eye

Publications for Retinitis Pigmentosa 40

Variations for Retinitis Pigmentosa 40

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 40:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 PDE6B p.His557Tyr VAR_006050 rs121918581
2 PDE6B p.Gly576Asp VAR_006051
3 PDE6B p.Leu699Arg VAR_006052
4 PDE6B p.Arg74Cys VAR_009283 rs144590560
5 PDE6B p.Tyr219His VAR_009286 rs62295357
6 PDE6B p.Leu228His VAR_009287
7 PDE6B p.Leu527Pro VAR_009290 rs760766981
8 PDE6B p.Ile535Asn VAR_009291 rs527236088
9 PDE6B p.Arg552Gln VAR_009292 rs751859807
10 PDE6B p.Leu854Arg VAR_009293
11 PDE6B p.Arg100His VAR_068361 rs555600300
12 PDE6B p.Asp776Asn VAR_068362 rs141563823

ClinVar genetic disease variations for Retinitis Pigmentosa 40:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE6B NM_000283.3(PDE6B): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs121918579 GRCh37 Chromosome 4, 647908: 647908
2 PDE6B NM_000283.3(PDE6B): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs121918579 GRCh38 Chromosome 4, 654119: 654119
3 PDE6B NM_000283.3(PDE6B): c.1591C> T (p.Arg531Ter) single nucleotide variant Pathogenic rs121918580 GRCh37 Chromosome 4, 654379: 654379
4 PDE6B NM_000283.3(PDE6B): c.1591C> T (p.Arg531Ter) single nucleotide variant Pathogenic rs121918580 GRCh38 Chromosome 4, 660590: 660590
5 PDE6B NM_000283.3(PDE6B): c.1488delC (p.Thr497Profs) deletion Pathogenic rs730880317 GRCh37 Chromosome 4, 654276: 654276
6 PDE6B NM_000283.3(PDE6B): c.1488delC (p.Thr497Profs) deletion Pathogenic rs730880317 GRCh38 Chromosome 4, 660487: 660487
7 PDE6B NM_000283.3(PDE6B): c.1669C> T (p.His557Tyr) single nucleotide variant Pathogenic rs121918581 GRCh37 Chromosome 4, 655977: 655977
8 PDE6B NM_000283.3(PDE6B): c.1669C> T (p.His557Tyr) single nucleotide variant Pathogenic rs121918581 GRCh38 Chromosome 4, 662188: 662188
9 PDE6B NM_000283.3(PDE6B): c.169_239dup71 (p.Leu83Cysfs) duplication Pathogenic GRCh38 Chromosome 4, 625795: 625865
10 PDE6B NM_000283.3(PDE6B): c.169_239dup71 (p.Leu83Cysfs) duplication Pathogenic GRCh37 Chromosome 4, 619584: 619654
11 PDE6B NM_000283.3(PDE6B): c.2419T> A (p.Trp807Arg) single nucleotide variant Pathogenic rs121918583 GRCh37 Chromosome 4, 661711: 661711
12 PDE6B NM_000283.3(PDE6B): c.2419T> A (p.Trp807Arg) single nucleotide variant Pathogenic rs121918583 GRCh38 Chromosome 4, 667922: 667922
13 PDE6B NM_000283.3(PDE6B): c.1540delC (p.Leu514Trpfs) deletion Pathogenic rs398123298 GRCh37 Chromosome 4, 654328: 654328
14 PDE6B NM_000283.3(PDE6B): c.1540delC (p.Leu514Trpfs) deletion Pathogenic rs398123298 GRCh38 Chromosome 4, 660539: 660539
15 PDE6B NM_000283.3(PDE6B): c.2193+1G> A single nucleotide variant Pathogenic rs727504075 GRCh37 Chromosome 4, 658734: 658734
16 PDE6B NM_000283.3(PDE6B): c.2193+1G> A single nucleotide variant Pathogenic rs727504075 GRCh38 Chromosome 4, 664945: 664945
17 PDE6B NM_000283.3(PDE6B): c.1678C> T (p.Arg560Cys) single nucleotide variant Pathogenic/Likely pathogenic rs201541131 GRCh38 Chromosome 4, 662197: 662197
18 PDE6B NM_000283.3(PDE6B): c.1678C> T (p.Arg560Cys) single nucleotide variant Pathogenic/Likely pathogenic rs201541131 GRCh37 Chromosome 4, 655986: 655986
19 PDE6B NM_000283.3(PDE6B): c.1876G> T (p.Glu626Ter) single nucleotide variant Likely pathogenic rs758052437 GRCh37 Chromosome 4, 656932: 656932
20 PDE6B NM_000283.3(PDE6B): c.1876G> T (p.Glu626Ter) single nucleotide variant Likely pathogenic rs758052437 GRCh38 Chromosome 4, 663143: 663143
21 PDE6B NM_000283.3(PDE6B): c.1923_1969del47insTCTGGG (p.Asn643Glyfs) indel Likely pathogenic rs869312177 GRCh38 Chromosome 4, 663772: 663818
22 PDE6B NM_000283.3(PDE6B): c.1923_1969del47insTCTGGG (p.Asn643Glyfs) indel Likely pathogenic rs869312177 GRCh37 Chromosome 4, 657561: 657607
23 PDE6B NM_000283.3(PDE6B): c.1811C> T (p.Thr604Ile) single nucleotide variant Uncertain significance rs752738349 GRCh37 Chromosome 4, 656386: 656386
24 PDE6B NM_000283.3(PDE6B): c.1811C> T (p.Thr604Ile) single nucleotide variant Uncertain significance rs752738349 GRCh38 Chromosome 4, 662597: 662597
25 PDE6B NM_000283.3(PDE6B): c.1832+1G> T single nucleotide variant Pathogenic rs370758397 GRCh38 Chromosome 4, 662619: 662619
26 PDE6B NM_000283.3(PDE6B): c.1832+1G> T single nucleotide variant Pathogenic rs370758397 GRCh37 Chromosome 4, 656408: 656408

Expression for Retinitis Pigmentosa 40

Search GEO for disease gene expression data for Retinitis Pigmentosa 40.

Pathways for Retinitis Pigmentosa 40

Pathways related to Retinitis Pigmentosa 40 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.02 CA2 GAST SST

GO Terms for Retinitis Pigmentosa 40

Biological processes related to Retinitis Pigmentosa 40 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to steroid hormone GO:0048545 8.62 CA2 SST

Molecular functions related to Retinitis Pigmentosa 40 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.8 GAST PPY SST

Sources for Retinitis Pigmentosa 40

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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