RP38
MCID: RTN142
MIFTS: 39

Retinitis Pigmentosa 38 (RP38)

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

Aliases & Classifications for Retinitis Pigmentosa 38

MalaCards integrated aliases for Retinitis Pigmentosa 38:

Name: Retinitis Pigmentosa 38 57 12 72 29 13 6 15 70
Rp38 57 12 72
Rod-Cone Dystrophy, Childhood-Onset 57
Retinitis Pigmentosa, Type 38 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset of symptoms in early childhood


HPO:

31
retinitis pigmentosa 38:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110367
OMIM® 57 613862
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C3151228
UMLS 70 C3151228

Summaries for Retinitis Pigmentosa 38

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 38: 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 38, also known as rp38, is related to leber congenital amaurosis 8 and macular dystrophy, dominant cystoid. An important gene associated with Retinitis Pigmentosa 38 is MERTK (MER Proto-Oncogene, Tyrosine Kinase), and among its related pathways/superpathways are Cell surface interactions at the vascular wall and Tyrosine Kinases / Adaptors. Affiliated tissues include eye, retina and bone, and related phenotypes are progressive visual loss and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the MERTK gene on chromosome 2q13.

OMIM® : 57 Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by Mackay et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (613862) (Updated 05-Apr-2021)

Related Diseases for Retinitis Pigmentosa 38

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

Diseases related to Retinitis Pigmentosa 38 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 8 10.0 TULP1 RPE65
2 macular dystrophy, dominant cystoid 10.0 TULP1 RPE65
3 la crosse encephalitis 10.0 TYRO3 MERTK GAS6
4 leber congenital amaurosis 9 10.0 TULP1 RPE65
5 leber congenital amaurosis 10 10.0 TULP1 RPE65
6 hereditary retinal dystrophy 10.0 RPE65 MERTK
7 leber congenital amaurosis 3 10.0 TULP1 RPE65
8 vitamin k deficiency bleeding 10.0 PROS1 GAS6
9 leber congenital amaurosis 4 10.0 TULP1 RPE65
10 choroid disease 9.9 RPE65 MERTK
11 leber congenital amaurosis 2 9.9 TULP1 RPE65 MERTK
12 leber congenital amaurosis 1 9.9 TULP1 RPE65 MERTK
13 usher syndrome, type iiia 9.9 TULP1 RPE65 MERTK
14 eye degenerative disease 9.9 TULP1 RPE65 MERTK
15 achromatopsia 9.9 TULP1 RPE65 MERTK
16 cardiomyopathy, familial restrictive, 3 9.9 ZC3H8 LRRIQ4
17 stargardt disease 9.9 TULP1 RPE65 MERTK
18 retinal degeneration 9.7 TYRO3 TULP1 RPE65 MERTK
19 retinal disease 9.7 TULP1 RPE65 MERTK
20 cone dystrophy 9.6 TULP1 RPE65 MERTK
21 fundus dystrophy 9.2 TYRO3 TULP1 RPE65 PROS1 MERTK GAS6

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 38:



Diseases related to Retinitis Pigmentosa 38

Symptoms & Phenotypes for Retinitis Pigmentosa 38

Human phenotypes related to Retinitis Pigmentosa 38:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 31 HP:0000529
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 optic disc pallor 31 HP:0000543
5 macular atrophy 31 HP:0007401
6 peripheral retinal atrophy 31 HP:0200070

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nyctalopia
macular atrophy
peripheral retinal atrophy
pale optic discs
decreased visual acuity, progressive
more

Clinical features from OMIM®:

613862 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 38:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.23 ACOXL ANAPC1 FBLN7 GAS6 MERTK PROS1

Drugs & Therapeutics for Retinitis Pigmentosa 38

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 38

Genetic Tests for Retinitis Pigmentosa 38

Genetic tests related to Retinitis Pigmentosa 38:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 38 29 MERTK

Anatomical Context for Retinitis Pigmentosa 38

MalaCards organs/tissues related to Retinitis Pigmentosa 38:

40
Eye, Retina, Bone

Publications for Retinitis Pigmentosa 38

Articles related to Retinitis Pigmentosa 38:

(show all 13)
# Title Authors PMID Year
1
Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa. 6 57
22180149 2012
2
A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases. 6 57
21677792 2011
3
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. 6 57
20300561 2010
4
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. 6 57
17301963 2007
5
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. 6 57
11727200 2002
6
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. 57 6
11062461 2000
7
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 6
26872967 2016
8
MERTK-Dependent Ensheathment of Photoreceptor Outer Segments by Human Pluripotent Stem Cell-Derived Retinal Pigment Epithelium. 61
32160519 2020
9
[Gene Therapy for Inherited RETINAL AND OPTIC NERVE Disorders: Current Knowledge]. 61
27860478 2016
10
Tyro3 Modulates Mertk-Associated Retinal Degeneration. 61
26656104 2015
11
Influence of EPS isolated from thermophilic sulphate-reducing bacteria on carbon steel corrosion. 61
21604218 2011
12
Development of a new cytomegalovirus (CMV) immunoglobulin M (IgM) immunoblot for detection of CMV-specific IgM. 61
9774589 1998
13
[An attempt at using monoclonal antibodies to oncogene products]. 61
3300558 1987

Variations for Retinitis Pigmentosa 38

ClinVar genetic disease variations for Retinitis Pigmentosa 38:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MERTK MERTK, 5-BP DEL, NT2070 Deletion Pathogenic 5400 GRCh37:
GRCh38:
2 MERTK NM_006343.3(MERTK):c.1605-2A>G SNV Pathogenic 5401 rs730880273 GRCh37: 2:112758776-112758776
GRCh38: 2:112001199-112001199
3 MERTK NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter) SNV Pathogenic 5402 rs119489105 GRCh37: 2:112766043-112766043
GRCh38: 2:112008466-112008466
4 MERTK NM_006343.3(MERTK):c.2189+1G>T SNV Pathogenic 5403 rs371956016 GRCh37: 2:112777100-112777100
GRCh38: 2:112019523-112019523
5 MERTK MERTK, 9-KB DEL Deletion Pathogenic 37302 GRCh37:
GRCh38:
6 MERTK NM_006343.3(MERTK):c.61+1G>A SNV Pathogenic 37303 rs1573554264 GRCh37: 2:112656374-112656374
GRCh38: 2:111898797-111898797
7 MERTK MERTK, 91-KB DEL Deletion Pathogenic 37304 GRCh37:
GRCh38:
8 MERTK NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter) SNV Pathogenic 37305 rs387907314 GRCh37: 2:112779132-112779132
GRCh38: 2:112021555-112021555
9 MERTK NM_006343.2:c.-8163_c.1145-1213del Deletion Pathogenic 224739 GRCh37:
GRCh38:
10 MERTK NM_006343.3(MERTK):c.584-1G>T SNV Pathogenic 437469 rs1553449458 GRCh37: 2:112704970-112704970
GRCh38: 2:111947393-111947393
11 MERTK NM_006343.3(MERTK):c.2486+1G>A SNV Pathogenic 522500 rs1309140887 GRCh37: 2:112779972-112779972
GRCh38: 2:112022395-112022395
12 MERTK , LOC112806037 NM_006343.3(MERTK):c.992_993del (p.Ser331fs) Deletion Pathogenic 801735 rs1573613491 GRCh37: 2:112732897-112732898
GRCh38: 2:111975320-111975321
13 MERTK NM_006343.3(MERTK):c.1296+1G>C SNV Pathogenic 801736 rs774577413 GRCh37: 2:112740571-112740571
GRCh38: 2:111982994-111982994
14 MERTK NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys) SNV Pathogenic 801738 rs746291728 GRCh37: 2:112785971-112785971
GRCh38: 2:112028394-112028394
15 MERTK NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs) Deletion Pathogenic 811356 rs1573638426 GRCh37: 2:112767631-112767635
GRCh38: 2:112010054-112010058
16 MERTK NM_006343.3(MERTK):c.1843A>T (p.Lys615Ter) SNV Pathogenic 983473 GRCh37: 2:112761537-112761537
GRCh38: 2:112003960-112003960
17 MERTK NM_006343.3(MERTK):c.1787-2del Deletion Pathogenic 1030096 GRCh37: 2:112761479-112761479
GRCh38: 2:112003902-112003902
18 MERTK NM_006343.3(MERTK):c.2162A>C (p.His721Pro) SNV Likely pathogenic 811285 rs778005207 GRCh37: 2:112777072-112777072
GRCh38: 2:112019495-112019495
19 MERTK NM_006343.3(MERTK):c.1450+2T>G SNV Likely pathogenic 811909 rs1573627154 GRCh37: 2:112751983-112751983
GRCh38: 2:111994406-111994406
20 MERTK NM_006343.3(MERTK):c.2303C>T (p.Ala768Val) SNV Likely pathogenic 801737 rs778383770 GRCh37: 2:112779112-112779112
GRCh38: 2:112021535-112021535
21 MERTK NM_006343.3(MERTK):c.692G>C (p.Trp231Ser) SNV Likely pathogenic 635477 rs1573592033 GRCh37: 2:112705079-112705079
GRCh38: 2:111947502-111947502
22 MERTK NM_006343.3(MERTK):c.1296+5G>A SNV Likely pathogenic 520426 rs1553454799 GRCh37: 2:112740575-112740575
GRCh38: 2:111982998-111982998
23 MERTK NM_006343.3(MERTK):c.370C>T (p.Gln124Ter) SNV Likely pathogenic 143140 rs527236134 GRCh37: 2:112687005-112687005
GRCh38: 2:111929428-111929428
24 MERTK NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser) SNV Likely pathogenic 216961 rs863224894 GRCh37: 2:112779001-112779001
GRCh38: 2:112021424-112021424
25 MERTK NM_006343.3(MERTK):c.520A>T (p.Ile174Phe) SNV Uncertain significance 811179 rs775179251 GRCh37: 2:112702574-112702574
GRCh38: 2:111944997-111944997
26 MERTK NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) SNV Uncertain significance 403082 rs141361084 GRCh37: 2:112779920-112779920
GRCh38: 2:112022343-112022343
27 MERTK NM_006343.3(MERTK):c.597T>A (p.Phe199Leu) SNV Uncertain significance 955168 GRCh37: 2:112704984-112704984
GRCh38: 2:111947407-111947407
28 MERTK NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) SNV Uncertain significance 143138 rs527236084 GRCh37: 2:112751981-112751981
GRCh38: 2:111994404-111994404
29 MERTK NM_006343.3(MERTK):c.2165G>A (p.Arg722Gln) SNV Uncertain significance 811947 rs147779020 GRCh37: 2:112777075-112777075
GRCh38: 2:112019498-112019498
30 MERTK NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) SNV Likely benign 194960 rs2230516 GRCh37: 2:112786034-112786034
GRCh38: 2:112028457-112028457
31 MERTK NM_006343.3(MERTK):c.756A>G (p.Pro252=) SNV Benign 330745 rs3761702 GRCh37: 2:112705143-112705143
GRCh38: 2:111947566-111947566
32 MERTK NM_006343.3(MERTK):c.844G>A (p.Ala282Thr) SNV Benign 330749 rs7588635 GRCh37: 2:112722854-112722854
GRCh38: 2:111965277-111965277
33 MERTK NM_006343.3(MERTK):c.1493A>G (p.Asn498Ser) SNV Benign 439895 rs35858762 GRCh37: 2:112754942-112754942
GRCh38: 2:111997365-111997365

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 38:

72
# Symbol AA change Variation ID SNP ID
1 MERTK p.Glu540Lys VAR_021046 rs113485015
2 MERTK p.Ser661Cys VAR_021047
3 MERTK p.Ile871Thr VAR_021048 rs377341255

Expression for Retinitis Pigmentosa 38

Search GEO for disease gene expression data for Retinitis Pigmentosa 38.

Pathways for Retinitis Pigmentosa 38

Pathways related to Retinitis Pigmentosa 38 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 PROS1 MERTK GAS6
2 11.3 TYRO3 MERTK GAS6
3 9.8 PROS1 GAS6

GO Terms for Retinitis Pigmentosa 38

Biological processes related to Retinitis Pigmentosa 38 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.67 PROS1 MERTK GAS6
2 retina development in camera-type eye GO:0060041 9.54 TULP1 RPE65 MERTK
3 retina homeostasis GO:0001895 9.51 TULP1 RPE65
4 positive regulation of phagocytosis GO:0050766 9.5 TULP1 MERTK GAS6
5 detection of light stimulus involved in visual perception GO:0050908 9.48 TULP1 RPE65
6 natural killer cell differentiation GO:0001779 9.46 TYRO3 MERTK
7 vagina development GO:0060068 9.43 TYRO3 MERTK
8 protein kinase B signaling GO:0043491 9.43 TYRO3 MERTK GAS6
9 secretion by cell GO:0032940 9.4 TYRO3 MERTK
10 negative regulation of lymphocyte activation GO:0051250 9.16 TYRO3 MERTK
11 apoptotic cell clearance GO:0043277 9.13 TYRO3 MERTK GAS6
12 phagocytosis GO:0006909 8.92 TYRO3 TULP1 MERTK GAS6

Sources for Retinitis Pigmentosa 38

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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