MCID: RTN090
MIFTS: 33

Retinitis Pigmentosa 55

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 55

MalaCards integrated aliases for Retinitis Pigmentosa 55:

Name: Retinitis Pigmentosa 55 57 12 75 29 13 6 15 73
Rp55 57 12 75
Retinitis Pigmentosa, Type 55 40

Characteristics:

HPO:

32
retinitis pigmentosa 55:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613575
Disease Ontology 12 DOID:0110370
ICD10 33 H35.5
MedGen 42 C3150808
MeSH 44 D012174
SNOMED-CT via HPO 69 258211005 28835009
UMLS 73 C3150808

Summaries for Retinitis Pigmentosa 55

UniProtKB/Swiss-Prot : 75 Retinitis pigmentosa 55: 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 55, also known as rp55, is related to scorpion envenomation and leukomalacia. An important gene associated with Retinitis Pigmentosa 55 is ARL6 (ADP Ribosylation Factor Like GTPase 6), and among its related pathways/superpathways are Pertussis and Dendritic Cells Developmental Lineage Pathway. Affiliated tissues include eye, and related phenotype is rod-cone dystrophy.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the ARL6 gene on chromosome 3q11.2.

Description from OMIM: 613575

Related Diseases for Retinitis Pigmentosa 55

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

(show top 50) (show all 138)
# Related Disease Score Top Affiliating Genes
1 scorpion envenomation 10.1 IL6 TNF
2 leukomalacia 10.1 IL6 TNF
3 angioimmunoblastic lymphadenopathy with dysproteinemia 10.1 IL6 TNF
4 critical limb ischemia 10.1 IL6 TNF
5 streptococcal toxic-shock syndrome 10.1 IL6 TNF
6 null-cell leukemia 10.1 IL6 TNF
7 anca-associated vasculitis 10.1 IL6 TNF
8 laryngitis 10.1 IL6 TNF
9 acute vascular insufficiency of intestine 10.1 IL6 TNF
10 posterior urethral valves 10.1 IL6 TNF
11 poems syndrome 10.1 IL6 TNF
12 microscopic colitis 10.1 IL6 TNF
13 meconium aspiration syndrome 10.1 IL6 TNF
14 burning mouth syndrome 10.1 IL6 TNF
15 central nervous system vasculitis 10.1 IL6 TNF
16 osteosclerotic myeloma 10.1 IL6 TNF
17 stachybotrys chartarum 10.1 IL6 TNF
18 louse-borne relapsing fever 10.1 IL6 TNF
19 listeriosis 10.1 IL6 TNF
20 transverse myelitis 10.1 IL6 TNF
21 ischemic heart disease 10.1 IL6 TNF
22 crimean-congo hemorrhagic fever 10.1 IL6 TNF
23 intermediate uveitis 10.1 IL6 TNF
24 monoclonal gammopathy of uncertain significance 10.1 IL6 TNF
25 post-transplant lymphoproliferative disease 10.1 IL6 TNF
26 eales disease 10.1 IL6 TNF
27 hemorrhagic fever 10.1 IL6 TNF
28 myelitis 10.1 IL6 TNF
29 stromal keratitis 10.1 IL6 TNF
30 hematopoietic stem cell transplantation 10.1 IL6 TNF
31 endometritis 10.1 IL6 TNF
32 rosacea 10.1 IL6 TNF
33 systolic heart failure 10.0 IL6 TNF
34 cytomegalovirus infection 10.0 IL6 TNF
35 joint disorders 10.0 IL6 TNF
36 pulpitis 10.0 IL6 TNF
37 localized scleroderma 10.0 IL6 TNF
38 plasmodium vivax malaria 10.0 IL6 TNF
39 periventricular leukomalacia 10.0 IL6 TNF
40 apnea, obstructive sleep 10.0 IL6 TNF
41 commensal bacterial infectious disease 10.0 IL6 TNF
42 lacrimal apparatus disease 10.0 IL6 TNF
43 adult-onset still's disease 10.0 IL6 TNF
44 perinatal necrotizing enterocolitis 10.0 IL6 TNF
45 aphthous stomatitis 10.0 IL6 TNF
46 fasciitis 10.0 IL6 TNF
47 ileitis 10.0 IL6 TNF
48 rasmussen encephalitis 10.0 IL6 TNF
49 dengue shock syndrome 10.0 IL6 TNF
50 infective endocarditis 10.0 IL6 TNF

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 55:



Diseases related to Retinitis Pigmentosa 55

Symptoms & Phenotypes for Retinitis Pigmentosa 55

Clinical features from OMIM:

613575

Human phenotypes related to Retinitis Pigmentosa 55:

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

Drugs & Therapeutics for Retinitis Pigmentosa 55

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 55

Genetic Tests for Retinitis Pigmentosa 55

Genetic tests related to Retinitis Pigmentosa 55:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 55 29 ARL6

Anatomical Context for Retinitis Pigmentosa 55

MalaCards organs/tissues related to Retinitis Pigmentosa 55:

41
Eye

Publications for Retinitis Pigmentosa 55

Variations for Retinitis Pigmentosa 55

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 55:

75
# Symbol AA change Variation ID SNP ID
1 ARL6 p.Ala89Val VAR_064184 rs587777805

ClinVar genetic disease variations for Retinitis Pigmentosa 55:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARL6 NM_032146.5(ARL6): c.266C> T (p.Ala89Val) single nucleotide variant Pathogenic rs587777805 GRCh38 Chromosome 3, 97784966: 97784966
2 ARL6 NM_032146.5(ARL6): c.266C> T (p.Ala89Val) single nucleotide variant Pathogenic rs587777805 GRCh37 Chromosome 3, 97503810: 97503810
3 ARL6 NM_032146.5(ARL6): c.480-8C> T single nucleotide variant Benign/Likely benign rs77010939 GRCh37 Chromosome 3, 97510607: 97510607
4 ARL6 NM_032146.5(ARL6): c.480-8C> T single nucleotide variant Benign/Likely benign rs77010939 GRCh38 Chromosome 3, 97791763: 97791763

Expression for Retinitis Pigmentosa 55

Search GEO for disease gene expression data for Retinitis Pigmentosa 55.

Pathways for Retinitis Pigmentosa 55

GO Terms for Retinitis Pigmentosa 55

Biological processes related to Retinitis Pigmentosa 55 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to glucocorticoid GO:0051384 9.4 IL6 TNF
2 humoral immune response GO:0006959 9.37 IL6 TNF
3 positive regulation of smooth muscle cell proliferation GO:0048661 9.32 IL6 TNF
4 positive regulation of interleukin-6 production GO:0032755 9.26 IL6 TNF
5 negative regulation of fat cell differentiation GO:0045599 9.16 IL6 TNF
6 positive regulation of chemokine production GO:0032722 8.96 IL6 TNF
7 negative regulation of lipid storage GO:0010888 8.62 IL6 TNF

Sources for Retinitis Pigmentosa 55

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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