RP38
MCID: RTN142
MIFTS: 44

Retinitis Pigmentosa 38 (RP38)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 38

MalaCards integrated aliases for Retinitis Pigmentosa 38:

Name: Retinitis Pigmentosa 38 58 12 76 30 13 6 15 74
Rp38 58 12 76
Rod-Cone Dystrophy, Childhood-Onset 58
Retinitis Pigmentosa, Type 38 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in early childhood


HPO:

33
retinitis pigmentosa 38:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110367
OMIM 58 613862
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3151228
UMLS 74 C3151228

Summaries for Retinitis Pigmentosa 38

UniProtKB/Swiss-Prot : 76 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 la crosse encephalitis and giant congenital nevus. An important gene associated with Retinitis Pigmentosa 38 is MERTK (MER Proto-Oncogene, Tyrosine Kinase), and among its related pathways/superpathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include eye, bone and retina, 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 : 58 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)

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
Nonsyndromic Retinitis Pigmentosa

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 la crosse encephalitis 10.1 MERTK TYRO3
2 giant congenital nevus 9.9 HRAS NRAS
3 benign struma ovarii 9.9 HRAS NRAS
4 schimmelpenning-feuerstein-mims syndrome 9.9 HRAS NRAS
5 ovarian melanoma 9.9 HRAS NRAS
6 malignant conjunctival melanoma 9.9 HRAS NRAS
7 melanomatosis 9.9 HRAS NRAS
8 marcus gunn phenomenon 9.9 HRAS NRAS
9 malignant struma ovarii 9.9 HRAS NRAS
10 nodular malignant melanoma 9.9 HRAS NRAS
11 fetal adenoma 9.9 HRAS NRAS
12 myelodysplastic myeloproliferative cancer 9.9 HRAS NRAS
13 meningeal melanomatosis 9.9 HRAS NRAS
14 melanocytic nevus syndrome, congenital 9.9 HRAS NRAS
15 acneiform dermatitis 9.8 HRAS NRAS
16 vulvar melanoma 9.8 HRAS NRAS
17 malignant skin fibrous histiocytoma 9.8 HRAS NRAS
18 core binding factor acute myeloid leukemia 9.8 HRAS NRAS
19 liver angiosarcoma 9.8 HRAS NRAS
20 leber congenital amaurosis 9.8 MERTK MT-ND4 RPE65
21 malignant dermis tumor 9.7 HRAS NRAS
22 central nervous system melanocytic neoplasm 9.7 HRAS NRAS
23 nevus, epidermal 9.5 HRAS NRAS

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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 33 HP:0000529
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510
4 optic disc pallor 33 HP:0000543
5 macular atrophy 33 HP:0007401
6 peripheral retinal atrophy 33 HP:0200070

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nyctalopia
pale optic discs
decreased visual acuity, progressive
macular atrophy
color vision deficits (in some patients)
more

Clinical features from OMIM:

613862

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 38 according to GeneCards Suite gene sharing:

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.16 HRAS MERTK
2 Decreased viability GR00107-A-1 10.16 PRKCA
3 Decreased viability GR00221-A-1 10.16 HRAS MERTK NRAS PRKCA
4 Decreased viability GR00221-A-2 10.16 HRAS PRKCA
5 Decreased viability GR00221-A-3 10.16 HRAS NRAS
6 Decreased viability GR00221-A-4 10.16 MERTK PRKCA
7 Decreased viability GR00342-S-1 10.16 PRKCA
8 Decreased viability GR00342-S-2 10.16 PRKCA
9 Decreased viability GR00342-S-3 10.16 PRKCA
10 Decreased viability GR00402-S-2 10.16 HRAS MERTK NRAS PRKCA
11 Decreased cell migration GR00055-A-1 9.56 HRAS MERTK PRKCA TYRO3
12 Increased cell death HMECs cells GR00103-A-0 9.26 MERTK NR3C1 PRKCA TYRO3
13 Increased cell migration GR00055-A-3 8.8 HRAS MERTK PRKCA

MGI Mouse Phenotypes related to Retinitis Pigmentosa 38:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.01 HRAS MERTK NR3C1 NRAS PRKCA RPE65
2 cardiovascular system MP:0005385 10 HRAS MERTK NR3C1 NRAS PRKCA TLR4
3 integument MP:0010771 9.91 HRAS MERTK NR3C1 NRAS PRKCA TLR4
4 digestive/alimentary MP:0005381 9.83 HRAS MERTK NR3C1 NRAS TLR4
5 nervous system MP:0003631 9.8 HRAS MERTK NR3C1 PRKCA RPE65 TLR4
6 liver/biliary system MP:0005370 9.72 MERTK NR3C1 NRAS TLR4 TYRO3
7 pigmentation MP:0001186 9.46 MERTK NRAS RPE65 TLR4
8 skeleton MP:0005390 9.43 HRAS MERTK NR3C1 NRAS TLR4 TYRO3
9 vision/eye MP:0005391 9.02 MERTK NRAS RPE65 TLR4 TYRO3

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 30 MERTK

Anatomical Context for Retinitis Pigmentosa 38

MalaCards organs/tissues related to Retinitis Pigmentosa 38:

42
Eye, Bone, Retina

Publications for Retinitis Pigmentosa 38

Variations for Retinitis Pigmentosa 38

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

76
# 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

ClinVar genetic disease variations for Retinitis Pigmentosa 38:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 MERTK NM_006343.2(MERTK): c.2192T> C (p.Leu731Ser) single nucleotide variant Likely pathogenic rs863224894 GRCh37 Chromosome 2, 112779001: 112779001
2 MERTK NM_006343.2(MERTK): c.2192T> C (p.Leu731Ser) single nucleotide variant Likely pathogenic rs863224894 GRCh38 Chromosome 2, 112021424: 112021424
3 MERTK MERTK, 5-BP DEL, NT2070 deletion Pathogenic
4 MERTK NM_006343.2(MERTK): c.1605-2A> G single nucleotide variant Pathogenic rs730880273 GRCh37 Chromosome 2, 112758776: 112758776
5 MERTK NM_006343.2(MERTK): c.1605-2A> G single nucleotide variant Pathogenic rs730880273 GRCh38 Chromosome 2, 112001199: 112001199
6 MERTK NM_006343.2(MERTK): c.1951C> T (p.Arg651Ter) single nucleotide variant Pathogenic rs119489105 GRCh37 Chromosome 2, 112766043: 112766043
7 MERTK NM_006343.2(MERTK): c.1951C> T (p.Arg651Ter) single nucleotide variant Pathogenic rs119489105 GRCh38 Chromosome 2, 112008466: 112008466
8 MERTK NM_006343.2(MERTK): c.2189+1G> T single nucleotide variant Pathogenic rs371956016 GRCh37 Chromosome 2, 112777100: 112777100
9 MERTK NM_006343.2(MERTK): c.2189+1G> T single nucleotide variant Pathogenic rs371956016 GRCh38 Chromosome 2, 112019523: 112019523
10 MERTK MERTK, 9-KB DEL deletion Pathogenic
11 MERTK MERTK, IVS1, G-A, +1 single nucleotide variant Pathogenic
12 MERTK MERTK, 91-KB DEL deletion Pathogenic
13 MERTK NM_006343.2(MERTK): c.2323C> T (p.Arg775Ter) single nucleotide variant Pathogenic rs387907314 GRCh37 Chromosome 2, 112779132: 112779132
14 MERTK NM_006343.2(MERTK): c.2323C> T (p.Arg775Ter) single nucleotide variant Pathogenic rs387907314 GRCh38 Chromosome 2, 112021555: 112021555
15 MERTK NM_006343.2(MERTK): c.1450G> A (p.Gly484Ser) single nucleotide variant Uncertain significance rs527236084 GRCh37 Chromosome 2, 112751981: 112751981
16 MERTK NM_006343.2(MERTK): c.1450G> A (p.Gly484Ser) single nucleotide variant Uncertain significance rs527236084 GRCh38 Chromosome 2, 111994404: 111994404
17 MERTK NM_006343.2(MERTK): c.370C> T (p.Gln124Ter) single nucleotide variant Likely pathogenic rs527236134 GRCh38 Chromosome 2, 111929428: 111929428
18 MERTK NM_006343.2(MERTK): c.370C> T (p.Gln124Ter) single nucleotide variant Likely pathogenic rs527236134 GRCh37 Chromosome 2, 112687005: 112687005
19 MERTK NM_006343.2: c.-8163_c.1145-1213del deletion Pathogenic
20 MERTK NM_006343.2(MERTK): c.584-1G> T single nucleotide variant Likely pathogenic rs1553449458 GRCh37 Chromosome 2, 112704970: 112704970
21 MERTK NM_006343.2(MERTK): c.584-1G> T single nucleotide variant Likely pathogenic rs1553449458 GRCh38 Chromosome 2, 111947393: 111947393
22 MERTK NM_006343.2(MERTK): c.1296+5G> A single nucleotide variant Likely pathogenic rs1553454799 GRCh37 Chromosome 2, 112740575: 112740575
23 MERTK NM_006343.2(MERTK): c.1296+5G> A single nucleotide variant Likely pathogenic rs1553454799 GRCh38 Chromosome 2, 111982998: 111982998
24 MERTK NM_006343.2(MERTK): c.2486+1G> A single nucleotide variant Pathogenic rs1309140887 GRCh38 Chromosome 2, 112022395: 112022395
25 MERTK NM_006343.2(MERTK): c.2486+1G> A single nucleotide variant Pathogenic rs1309140887 GRCh37 Chromosome 2, 112779972: 112779972

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:

(show top 50) (show all 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 HRAS MERTK NRAS PRKCA TYRO3
2
Show member pathways
13.05 HRAS MERTK NRAS PRKCA TYRO3
3
Show member pathways
13.04 HRAS MERTK NR3C1 NRAS PRKCA TLR4
4
Show member pathways
12.99 HRAS MERTK NRAS PRKCA TLR4 TYRO3
5
Show member pathways
12.97 HRAS NR3C1 NRAS PRKCA TLR4
6
Show member pathways
12.82 HRAS NRAS PRKCA TLR4
7
Show member pathways
12.8 HRAS NRAS PRKCA TLR4
8
Show member pathways
12.44 HRAS NRAS PRKCA
9
Show member pathways
12.37 HRAS NRAS PRKCA
10 12.37 HRAS NRAS PRKCA
11
Show member pathways
12.35 HRAS NRAS PRKCA
12
Show member pathways
12.34 HRAS NR3C1 NRAS
13
Show member pathways
12.32 HRAS NRAS PRKCA
14
Show member pathways
12.3 HRAS NRAS PRKCA
15
Show member pathways
12.26 HRAS NRAS PRKCA
16
Show member pathways
12.18 HRAS NRAS TLR4
17
Show member pathways
12.16 HRAS NRAS PRKCA
18
Show member pathways
12.16 HRAS MERTK NRAS TYRO3
19
Show member pathways
12.14 HRAS NRAS PRKCA
20
Show member pathways
12.11 HRAS NRAS PRKCA
21
Show member pathways
12.08 HRAS MERTK NRAS
22
Show member pathways
12.08 HRAS NRAS PRKCA TLR4
23 12.07 HRAS NRAS PRKCA
24
Show member pathways
12.05 HRAS NRAS PRKCA TLR4
25
Show member pathways
12.05 HRAS NRAS PRKCA
26
Show member pathways
12.03 HRAS NRAS PRKCA TLR4
27
Show member pathways
12.01 HRAS NRAS PRKCA
28
Show member pathways
11.99 HRAS NRAS PRKCA
29
Show member pathways
11.95 HRAS NRAS PRKCA
30
Show member pathways
11.85 HRAS NRAS PRKCA
31
Show member pathways
11.85 HRAS NRAS PRKCA
32
Show member pathways
11.84 HRAS NR3C1 NRAS
33 11.78 HRAS NRAS PRKCA
34 11.75 HRAS NRAS PRKCA
35 11.73 HRAS NRAS PRKCA
36 11.65 HRAS NRAS PRKCA
37 11.56 HRAS NRAS PRKCA TLR4
38
Show member pathways
11.53 HRAS NRAS PRKCA
39 11.4 HRAS NRAS
40 11.34 HRAS NRAS
41 11.28 HRAS PRKCA
42 11.26 HRAS NRAS PRKCA
43 11.22 HRAS NRAS
44 11.21 HRAS NR3C1
45 11.21 HRAS NRAS PRKCA
46 11.17 HRAS PRKCA
47 11.15 HRAS NRAS
48 11.15 HRAS NRAS
49
Show member pathways
11.12 HRAS NRAS
50 11.05 HRAS NRAS PRKCA

GO Terms for Retinitis Pigmentosa 38

Cellular components related to Retinitis Pigmentosa 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 MERTK TLR4 TYRO3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.54 MERTK PRKCA TYRO3
2 positive regulation of interferon-gamma production GO:0032729 9.51 HRAS TLR4
3 substrate adhesion-dependent cell spreading GO:0034446 9.49 MERTK TYRO3
4 protein kinase B signaling GO:0043491 9.48 MERTK TYRO3
5 apoptotic cell clearance GO:0043277 9.46 MERTK TYRO3
6 natural killer cell differentiation GO:0001779 9.4 MERTK TYRO3
7 secretion by cell GO:0032940 9.32 MERTK TYRO3
8 T-helper 1 type immune response GO:0042088 9.26 HRAS TLR4
9 vagina development GO:0060068 9.16 MERTK TYRO3
10 positive regulation of MAPK cascade GO:0043410 9.13 HRAS
11 negative regulation of lymphocyte activation GO:0051250 8.96 MERTK TYRO3
12 positive regulation of ERK1 and ERK2 cascade GO:0070374 8.8 HRAS PRKCA TLR4

Molecular functions related to Retinitis Pigmentosa 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Wnt-protein binding GO:0017147 8.96 MERTK TYRO3
2 transmembrane signaling receptor activity GO:0004888 8.32 TLR4

Sources for Retinitis Pigmentosa 38

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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