RP42
MCID: RTN149
MIFTS: 28

Retinitis Pigmentosa 42 (RP42)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 42

MalaCards integrated aliases for Retinitis Pigmentosa 42:

Name: Retinitis Pigmentosa 42 56 12 73 29 13 6 15 71
Rp42 56 12 73
Retinitis Pigmentosa, Type 42 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
retinitis pigmentosa 42:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110386
OMIM 56 612943
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C2751986
SNOMED-CT via HPO 68 263681008 28835009 398979000
UMLS 71 C2751986

Summaries for Retinitis Pigmentosa 42

UniProtKB/Swiss-Prot : 73 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 autism and polycystic kidney disease 3 with or without polycystic liver disease. An important gene associated with Retinitis Pigmentosa 42 is KLHL7 (Kelch Like Family Member 7). Affiliated tissues include eye, bone and retina, 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.

More information from OMIM: 612943 PS268000

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 42 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autism 10.3
2 polycystic kidney disease 3 with or without polycystic liver disease 9.8 RAD51 PIR

Symptoms & Phenotypes for Retinitis Pigmentosa 42

Human phenotypes related to Retinitis Pigmentosa 42:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 pallor 31 HP:0000980

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Eye, Bone, Retina, Thyroid

Publications for Retinitis Pigmentosa 42

Articles related to Retinitis Pigmentosa 42:

(show all 16)
# Title Authors PMID Year
1
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. 56 6 61
19520207 2009
2
Electroretinographic studies of families with dominant retinitis pigmentosa. 6 56
1872134 1991
3
Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. 56 61
22084217 2011
4
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
5
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
6
Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation. 6
21828050 2011
7
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
8
Natural course of retinitis pigmentosa over a three-year interval. 56
3976802 1985
9
The Mycoplasma hyopneumoniae recombinant heat shock protein P42 induces an immune response in pigs under field conditions. 61
25082621 2014
10
Mhp182 (P102) binds fibronectin and contributes to the recruitment of plasmin(ogen) to the Mycoplasma hyopneumoniae cell surface. 61
21951786 2012
11
Fine mapping of the polled locus to a 1-Mb region on bovine chromosome 1q12. 61
16180143 2005
12
Two-step differential expression analysis reveals a new set of genes involved in thyroid oncocytic tumors. 61
15623817 2005
13
Combined effects of high hydrostatic pressure and temperature for inactivation of Bacillus anthracis spores. 61
14711702 2004
14
Early neuronal and glial determination from mouse E10.5 telencephalon embryonic stem cells: an in vitro study. 61
12151771 2002
15
The role of antibodies to Bacillus anthracis and anthrax toxin components in inhibiting the early stages of infection by anthrax spores. 61
11390699 2001
16
Cloning and expression analysis of a novel gene, RP42, mapping to an autism susceptibility locus on 6q16. 61
10777668 2000

Variations for Retinitis Pigmentosa 42

ClinVar genetic disease variations for Retinitis Pigmentosa 42:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KLHL7 NM_001031710.3(KLHL7):c.449G>A (p.Ser150Asn)SNV Pathogenic 1008 rs137853112 7:23180394-23180394 7:23140775-23140775
2 KLHL7 NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)SNV Pathogenic 1009 rs137853113 7:23180403-23180403 7:23140784-23140784
3 KLHL7 NM_001031710.3(KLHL7):c.457G>A (p.Ala153Thr)SNV Pathogenic 1010 rs137853114 7:23180402-23180402 7:23140783-23140783

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

73
# 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

Expression for Retinitis Pigmentosa 42

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

Pathways for Retinitis Pigmentosa 42

GO Terms for Retinitis Pigmentosa 42

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of protein localization to plasma membrane GO:1903077 8.62 NUMB AP2M1

Sources for Retinitis Pigmentosa 42

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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