RP42
MCID: RTN149
MIFTS: 29

Retinitis Pigmentosa 42 (RP42)

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

Aliases & Classifications for Retinitis Pigmentosa 42

MalaCards integrated aliases for Retinitis Pigmentosa 42:

Name: Retinitis Pigmentosa 42 57 12 72 29 13 6 15 70
Rp42 57 12 72
Retinitis Pigmentosa, Type 42 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 612943
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C2751986
SNOMED-CT via HPO 68 263681008 28835009 398979000
UMLS 70 C2751986

Summaries for Retinitis Pigmentosa 42

UniProtKB/Swiss-Prot : 72 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), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include eye, retina and bone, and related phenotypes are pallor and rod-cone dystrophy

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 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
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 10.0
2 polycystic kidney disease 3 with or without polycystic liver disease 9.9 RAD51 APEH
3 cold-induced sweating syndrome 9.7 KLHL7 KLHL31

Symptoms & Phenotypes for Retinitis Pigmentosa 42

Human phenotypes related to Retinitis Pigmentosa 42:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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, Retina, Bone, Thyroid

Publications for Retinitis Pigmentosa 42

Articles related to Retinitis Pigmentosa 42:

(show all 15)
# Title Authors PMID Year
1
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. 57 6 61
19520207 2009
2
Electroretinographic studies of families with dominant retinitis pigmentosa. 6 57
1872134 1991
3
Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. 61 57
22084217 2011
4
Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation. 6
21828050 2011
5
Natural course of retinitis pigmentosa over a three-year interval. 57
3976802 1985
6
The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study. 61
32657595 2020
7
A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. 61
31953236 2020
8
The Mycoplasma hyopneumoniae recombinant heat shock protein P42 induces an immune response in pigs under field conditions. 61
25082621 2014
9
Mhp182 (P102) binds fibronectin and contributes to the recruitment of plasmin(ogen) to the Mycoplasma hyopneumoniae cell surface. 61
21951786 2012
10
Fine mapping of the polled locus to a 1-Mb region on bovine chromosome 1q12. 61
16180143 2005
11
Two-step differential expression analysis reveals a new set of genes involved in thyroid oncocytic tumors. 61
15623817 2005
12
Combined effects of high hydrostatic pressure and temperature for inactivation of Bacillus anthracis spores. 61
14711702 2004
13
Early neuronal and glial determination from mouse E10.5 telencephalon embryonic stem cells: an in vitro study. 61
12151771 2002
14
The role of antibodies to Bacillus anthracis and anthrax toxin components in inhibiting the early stages of infection by anthrax spores. 61
11390699 2001
15
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 Position
1 KLHL7 NM_001031710.3(KLHL7):c.449G>A (p.Ser150Asn) SNV Pathogenic 1008 rs137853112 GRCh37: 7:23180394-23180394
GRCh38: 7:23140775-23140775
2 KLHL7 NM_001031710.3(KLHL7):c.457G>A (p.Ala153Thr) SNV Pathogenic 1010 rs137853114 GRCh37: 7:23180402-23180402
GRCh38: 7:23140783-23140783
3 KLHL7 NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) SNV Pathogenic 1009 rs137853113 GRCh37: 7:23180403-23180403
GRCh38: 7:23140784-23140784

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1 11.27 RAD51 NTMT1 ENSA

GO Terms for Retinitis Pigmentosa 42

Sources for Retinitis Pigmentosa 42

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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