MCID: RTN149
MIFTS: 34

Retinitis Pigmentosa 42

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 42

MalaCards integrated aliases for Retinitis Pigmentosa 42:

Name: Retinitis Pigmentosa 42 57 12 75 29 13 6 15 73
Rp42 57 12 75
Retinitis Pigmentosa, Type 42 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
late-onset, slowly progressing form of retinitis pigmentosa


HPO:

32
retinitis pigmentosa 42:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612943
Disease Ontology 12 DOID:0110386
ICD10 33 H35.5
MedGen 42 C2751986
MeSH 44 D012174
SNOMED-CT via HPO 69 263681008 28835009 398979000
UMLS 73 C2751986

Summaries for Retinitis Pigmentosa 42

UniProtKB/Swiss-Prot : 75 Retinitis pigmentosa 42: 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 42, also known as rp42, is related to central nervous system teratoma and anaplastic ganglioglioma. An important gene associated with Retinitis Pigmentosa 42 is KLHL7 (Kelch Like Family Member 7), and among its related pathways/superpathways are Internalization of ErbB1 and IKK complex recruitment mediated by RIP1. Affiliated tissues include bone and eye, and related phenotypes are rod-cone dystrophy and pallor

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the KLHL7 gene on chromosome 7p15.3.

Description from OMIM: 612943

Related Diseases for Retinitis Pigmentosa 42

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 42 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 central nervous system teratoma 10.5 GFAP NES
2 anaplastic ganglioglioma 10.5 GFAP NES
3 central nervous system germ cell tumor 10.5 GFAP NES
4 central nervous system primitive neuroectodermal neoplasm 10.5 GFAP NES
5 dysembryoplastic neuroepithelial tumor 10.5 GFAP NES
6 ependymoblastoma 10.5 GFAP NES
7 astroblastoma 10.5 GFAP NES
8 medulloepithelioma 10.4 GFAP NES
9 von economo's disease 10.4 DDX41 GFAP
10 subependymoma 10.4 GFAP NES
11 cercarial dermatitis 10.4 CTSB DDX41
12 tanycytic ependymoma 10.4 GFAP NES
13 papillary ependymoma 10.3 GFAP NES
14 gliomatosis cerebri 10.3 GFAP NES
15 brain ischemia 10.2 GFAP NES
16 brown-sequard syndrome 10.2 GFAP PLG
17 subependymal giant cell astrocytoma 10.1 GFAP NES
18 central neurocytoma 10.0 GFAP NES
19 autism 10.0
20 vitreous disease 9.7 GFAP PLG

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 42:



Diseases related to Retinitis Pigmentosa 42

Symptoms & Phenotypes for Retinitis Pigmentosa 42

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinitis pigmentosa, late-onset form
loss of peripheral retinal tissue
bone spicule pigmentation
arteriolar attenuation
waxy optic pallor
more

Clinical features from OMIM:

612943

Human phenotypes related to Retinitis Pigmentosa 42:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 pallor 32 HP:0000980

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 42 according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.64 UBE2D3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.64 NES
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.64 UBE2D3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.64 NES
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.64 UBE2D3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.64 AP2M1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.64 NES
8 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.64 NES
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.64 AP2M1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.64 UBE2D3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.64 NES
12 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.64 NES
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.64 UBE2D3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.64 NES UBE2D3 AP2M1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.64 AP2M1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.64 UBE2D3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.64 UBE2D3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.64 AP2M1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.64 UBE2D3

Drugs & Therapeutics for Retinitis Pigmentosa 42

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 42

Genetic Tests for Retinitis Pigmentosa 42

Genetic tests related to Retinitis Pigmentosa 42:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 42 29 KLHL7

Anatomical Context for Retinitis Pigmentosa 42

MalaCards organs/tissues related to Retinitis Pigmentosa 42:

41
Bone, Eye

Publications for Retinitis Pigmentosa 42

Variations for Retinitis Pigmentosa 42

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 42:

75
# Symbol AA change Variation ID SNP ID
1 KLHL7 p.Ser150Asn VAR_060672 rs137853112
2 KLHL7 p.Ala153Thr VAR_060673 rs137853114
3 KLHL7 p.Ala153Val VAR_060674 rs137853113

ClinVar genetic disease variations for Retinitis Pigmentosa 42:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KLHL7 NM_001031710.2(KLHL7): c.449G> A (p.Ser150Asn) single nucleotide variant Pathogenic rs137853112 GRCh37 Chromosome 7, 23180394: 23180394
2 KLHL7 NM_001031710.2(KLHL7): c.449G> A (p.Ser150Asn) single nucleotide variant Pathogenic rs137853112 GRCh38 Chromosome 7, 23140775: 23140775
3 KLHL7 NM_001031710.2(KLHL7): c.458C> T (p.Ala153Val) single nucleotide variant Pathogenic rs137853113 GRCh37 Chromosome 7, 23180403: 23180403
4 KLHL7 NM_001031710.2(KLHL7): c.458C> T (p.Ala153Val) single nucleotide variant Pathogenic rs137853113 GRCh38 Chromosome 7, 23140784: 23140784
5 KLHL7 NM_001031710.2(KLHL7): c.457G> A (p.Ala153Thr) single nucleotide variant Pathogenic rs137853114 GRCh37 Chromosome 7, 23180402: 23180402
6 KLHL7 NM_001031710.2(KLHL7): c.457G> A (p.Ala153Thr) single nucleotide variant Pathogenic rs137853114 GRCh38 Chromosome 7, 23140783: 23140783

Expression for Retinitis Pigmentosa 42

Search GEO for disease gene expression data for Retinitis Pigmentosa 42.

Pathways for Retinitis Pigmentosa 42

Pathways related to Retinitis Pigmentosa 42 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.69 UBE2D2 UBE2D3
2 10.34 UBE2D2 UBE2D3
3 9.98 CTSB PLG

GO Terms for Retinitis Pigmentosa 42

Cellular components related to Retinitis Pigmentosa 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.36 AP2M1 DDX41 GAN GFAP ITGAV KLHL7

Biological processes related to Retinitis Pigmentosa 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 TRIF-dependent toll-like receptor signaling pathway GO:0035666 8.96 UBE2D2 UBE2D3
2 MyD88-independent toll-like receptor signaling pathway GO:0002756 8.62 UBE2D2 UBE2D3

Molecular functions related to Retinitis Pigmentosa 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin conjugating enzyme activity GO:0061631 8.96 UBE2D2 UBE2D3
2 ubiquitin-protein transferase activity GO:0004842 8.92 GAN KLHL7 UBE2D2 UBE2D3

Sources for Retinitis Pigmentosa 42

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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