MCID: RTN177
MIFTS: 39

Retinitis Pigmentosa 73

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 73

MalaCards integrated aliases for Retinitis Pigmentosa 73:

Name: Retinitis Pigmentosa 73 53 12 71 28 14
Rp73 53 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset of symptoms (from childhood to the sixth decade of life)


HPO:

31
retinitis pigmentosa 73:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 616544
Disease Ontology 12 DOID:0110389
ICD10 32 H35.5
MeSH 41 D012174

Summaries for Retinitis Pigmentosa 73

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 73: 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 73, also known as rp73, is related to acute cystitis and scrub typhus, and has symptoms including nyctalopia, rod-cone dystrophy and retinal atrophy. An important gene associated with Retinitis Pigmentosa 73 is HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PAK Pathway. Affiliated tissues include bone, eye and retina.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the HGSNAT gene on chromosome 8p11.

Description from OMIM: 616544

Related Diseases for Retinitis Pigmentosa 73

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 acute cystitis 10.1 CCL2 CXCL1
2 scrub typhus 10.1 F3 IL1B
3 intracranial hypertension 10.0 F3 IL1B
4 purulent labyrinthitis 10.0 CCL2 IL1B
5 viral encephalitis 10.0 CCL2 IL1B
6 extrapulmonary tuberculosis 10.0 CCL2 IL1B
7 dengue shock syndrome 10.0 CCL2 IL1B
8 extrinsic cardiomyopathy 10.0 CCL2 IL1B
9 complex regional pain syndrome 10.0 CCL2 IL1B
10 leptospirosis 10.0 CCL2 IL1B
11 pyelonephritis 10.0 CCL2 IL1B
12 neuritis 10.0 CCL2 IL1B
13 extrinsic allergic alveolitis 10.0 CCL2 IL1B
14 silicosis 10.0 CCL2 IL1B
15 chorioamnionitis 10.0 CCL2 IL1B
16 pneumoconiosis 10.0 CCL2 IL1B
17 transient cerebral ischemia 10.0 CCL2 IL1B
18 monocytic leukemia 9.9 F3 IL1B
19 autoinflammation, lipodystrophy, and dermatosis syndrome 9.9 CCL2 IL1B
20 bone inflammation disease 9.9 CCL2 IL1B
21 helicobacter pylori infection 9.9 CXCL1 IL1B
22 immune system disease 9.9 F3 IL1B
23 respiratory system disease 9.9 CCL2 IL1B
24 fibrosis of extraocular muscles, congenital, 1 9.9
25 cystic fibrosis 9.9
26 trypanosomiasis 9.9 CCL2 IL1B
27 periodontitis 9.8 CCL2 IL1B
28 chagas disease 9.8 CCL2 IL1B
29 acquired metabolic disease 9.7 CCL2 IL1B
30 arteries, anomalies of 9.7 CCL2 F3 IL1B
31 gastritis 9.7 CXCL1 IL1B
32 meningitis 9.6 CCL2 CXCL1 IL1B
33 pulmonary fibrosis, idiopathic 9.6 CCL2 CXCL1 IL1B
34 sarcoidosis 1 9.5 CCL2 IL1B
35 stachybotrys chartarum 9.4 CCL2 CXCL2 IL1B
36 keratitis, hereditary 9.4 CXCL1 CXCL2 IL1B
37 peritonitis 9.4 CCL2 CXCL2 IL1B
38 demyelinating disease 9.4 CCL2 CXCL2 IL1B
39 rheumatoid arthritis 9.4 CCL2 CXCL1 IL1B
40 pneumonia 9.0 CCL2 CXCL1 CXCL2 IL1B

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 73:



Diseases related to Retinitis Pigmentosa 73

Symptoms & Phenotypes for Retinitis Pigmentosa 73

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
night blindness
visual field constriction
reduced red color vision (in some patients)
retinal atrophy
atrophy of retinal pigmented epithelium (rpe)
more

Clinical features from OMIM:

616544

Human phenotypes related to Retinitis Pigmentosa 73:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 HP:0000662
2 rod-cone dystrophy 31 HP:0000510
3 retinal atrophy 31 HP:0001105
4 constriction of peripheral visual field 31 HP:0001133

Drugs & Therapeutics for Retinitis Pigmentosa 73

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 73

Genetic Tests for Retinitis Pigmentosa 73

Genetic tests related to Retinitis Pigmentosa 73:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 73 28 HGSNAT

Anatomical Context for Retinitis Pigmentosa 73

MalaCards organs/tissues related to Retinitis Pigmentosa 73:

38
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 73

Articles related to Retinitis Pigmentosa 73:

# Title Authors Year
1
Complete Genome Sequence of Persistent Cystic Fibrosis Isolate Pseudomonas aeruginosa Strain RP73. ( 23908295 )
2013

Variations for Retinitis Pigmentosa 73

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 73:

71
# Symbol AA change Variation ID SNP ID
1 HGSNAT p.Arg152Trp VAR_075814
2 HGSNAT p.Gly161Ala VAR_075815

ClinVar genetic disease variations for Retinitis Pigmentosa 73:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HGSNAT NM_152419.2(HGSNAT): c.398G> C (p.Gly133Ala) single nucleotide variant Pathogenic rs797045120 GRCh38 Chromosome 8, 43158949: 43158949
2 HGSNAT NM_152419.2(HGSNAT): c.370A> T (p.Arg124Trp) single nucleotide variant Pathogenic rs754875934 GRCh37 Chromosome 8, 43013853: 43013853

Expression for Retinitis Pigmentosa 73

Search GEO for disease gene expression data for Retinitis Pigmentosa 73.

Pathways for Retinitis Pigmentosa 73

Pathways related to Retinitis Pigmentosa 73 according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 CCL2 CXCL1 CXCL2 IL1B
2
Show member pathways
12.96 CCL2 CXCL1 CXCL2 IL1B
3
Show member pathways
12.63 CCL2 CXCL1 CXCL2 F3 IL1B
4
Show member pathways
12.29 CCL2 CXCL1 IL1B
5
Show member pathways
12 CCL2 CXCL1 CXCL2 IL1B
6
Show member pathways
11.88 CCL2 CXCL1 CXCL2
7
Show member pathways
11.76 CCL2 CXCL1 CXCL2
8 11.68 CCL2 F3 IL1B
9 11.63 CCL2 CXCL1 IL1B
10 11.59 CXCL1 CXCL2 IL1B
11 11.56 CCL2 F3
12 11.54 CCL2 CXCL1 CXCL2 IL1B
13 11.43 CCL2 CXCL2 IL1B
14
Show member pathways
11.39 CXCL2 IL1B
15 11.35 CXCL1 CXCL2 IL1B
16 11.29 CCL2 CXCL1 CXCL2 IL1B
17 11.27 CCL2 IL1B
18 11.25 CCL2 IL1B
19 10.96 CCL2 IL1B
20 10.91 CXCL1 CXCL2 IL1B
21 10.85 CCL2 CXCL1 CXCL2 IL1B
22 10.75 CCL2 CXCL1 CXCL2 IL1B
23 10.74 CCL2 IL1B
24 10.61 CCL2 CXCL1 CXCL2 IL1B

GO Terms for Retinitis Pigmentosa 73

Cellular components related to Retinitis Pigmentosa 73 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 CCL2 CXCL1 CXCL2 F3 IL1B
2 extracellular space GO:0005615 9.02 CCL2 CXCL1 CXCL2 F3 IL1B

Biological processes related to Retinitis Pigmentosa 73 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.62 CCL2 CXCL1 CXCL2 IL1B
2 response to lipopolysaccharide GO:0032496 9.61 CXCL1 CXCL2 IL1B
3 chemotaxis GO:0006935 9.58 CCL2 CXCL1 CXCL2
4 regulation of receptor activity GO:0010469 9.56 CCL2 CXCL1 CXCL2 IL1B
5 cytokine-mediated signaling pathway GO:0019221 9.54 CCL2 F3 IL1B
6 cellular response to organic cyclic compound GO:0071407 9.52 CCL2 IL1B
7 neutrophil chemotaxis GO:0030593 9.51 CCL2 IL1B
8 protein kinase B signaling GO:0043491 9.49 CCL2 IL1B
9 lipopolysaccharide-mediated signaling pathway GO:0031663 9.48 CCL2 IL1B
10 positive regulation of neutrophil chemotaxis GO:0090023 9.46 CXCL1 CXCL2
11 inflammatory response GO:0006954 9.46 CCL2 CXCL1 CXCL2 IL1B
12 chemokine-mediated signaling pathway GO:0070098 9.13 CCL2 CXCL1 CXCL2
13 cell chemotaxis GO:0060326 8.8 CCL2 CXCL1 CXCL2

Molecular functions related to Retinitis Pigmentosa 73 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 CXCR chemokine receptor binding GO:0045236 9.16 CXCL1 CXCL2
2 chemokine activity GO:0008009 9.13 CCL2 CXCL1 CXCL2
3 cytokine activity GO:0005125 8.92 CCL2 CXCL1 CXCL2 IL1B

Sources for Retinitis Pigmentosa 73

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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