MCID: RTN177
MIFTS: 38

Retinitis Pigmentosa 73

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 73

MalaCards integrated aliases for Retinitis Pigmentosa 73:

Name: Retinitis Pigmentosa 73 57 12 75 29 6 15
Rp73 57 12 75
Retinitis Pigmentosa, Type 73 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
retinitis pigmentosa 73:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616544
Disease Ontology 12 DOID:0110389
ICD10 33 H35.5
MeSH 44 D012174

Summaries for Retinitis Pigmentosa 73

UniProtKB/Swiss-Prot : 75 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. 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 retina, bone and eye, and related phenotypes are rod-cone dystrophy and nyctalopia

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 43)
# Related Disease Score Top Affiliating Genes
1 acute cystitis 10.2 CCL2 CXCL1
2 scrub typhus 10.1 F3 IL1B
3 intracranial hypertension 10.1 F3 IL1B
4 purulent labyrinthitis 10.1 CCL2 IL1B
5 erdheim-chester disease 10.1 CCL2 IL1B
6 placenta disease 10.1 F3 IL1B
7 extrapulmonary tuberculosis 10.0 CCL2 IL1B
8 dengue shock syndrome 10.0 CCL2 IL1B
9 extrinsic cardiomyopathy 10.0 CCL2 IL1B
10 viral encephalitis 10.0 CCL2 IL1B
11 complex regional pain syndrome 10.0 CCL2 IL1B
12 chikungunya 10.0 CCL2 IL1B
13 leptospirosis 10.0 CCL2 IL1B
14 pyelonephritis 10.0 CCL2 IL1B
15 neuritis 10.0 CCL2 IL1B
16 extrinsic allergic alveolitis 10.0 CCL2 IL1B
17 cystic fibrosis 10.0
18 silicosis 10.0 CCL2 IL1B
19 chorioamnionitis 10.0 CCL2 IL1B
20 pneumoconiosis 9.9 CCL2 IL1B
21 transient cerebral ischemia 9.9 CCL2 IL1B
22 autoinflammation, lipodystrophy, and dermatosis syndrome 9.9 CCL2 IL1B
23 bone inflammation disease 9.9 CCL2 IL1B
24 monocytic leukemia 9.9 F3 IL1B
25 helicobacter pylori infection 9.9 CXCL1 IL1B
26 respiratory system disease 9.9 CCL2 IL1B
27 aortic aneurysm, familial abdominal, 1 9.8 CCL2 IL1B
28 immune system disease 9.8 F3 IL1B
29 night blindness, congenital stationary, type 1a 9.8 CXCL1 CXCL2
30 trypanosomiasis 9.8 CCL2 IL1B
31 chagas disease 9.7 CCL2 IL1B
32 acquired metabolic disease 9.7 CCL2 IL1B
33 periodontitis 9.6 CCL2 IL1B
34 arteries, anomalies of 9.5 CCL2 F3 IL1B
35 gastritis 9.5 CXCL1 IL1B
36 meningitis 9.5 CCL2 CXCL1 IL1B
37 pulmonary fibrosis, idiopathic 9.4 CCL2 CXCL1 IL1B
38 sarcoidosis 1 9.2 CCL2 IL1B
39 stachybotrys chartarum 9.1 CCL2 CXCL2 IL1B
40 keratitis, hereditary 9.1 CXCL1 CXCL2 IL1B
41 peritonitis 9.1 CCL2 CXCL2 IL1B
42 demyelinating disease 9.1 CCL2 CXCL2 IL1B
43 pneumonia 8.5 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 nyctalopia 32 HP:0000662
3 retinal atrophy 32 HP:0001105
4 constriction of peripheral visual field 32 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 29 HGSNAT

Anatomical Context for Retinitis Pigmentosa 73

MalaCards organs/tissues related to Retinitis Pigmentosa 73:

41
Retina, Bone, Eye

Publications for Retinitis Pigmentosa 73

Variations for Retinitis Pigmentosa 73

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

75
# 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
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 HGSNAT NM_152419.2(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 GRCh37 Chromosome 8, 43002207: 43002207
2 HGSNAT NM_152419.2(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 GRCh38 Chromosome 8, 43147064: 43147064
3 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh37 Chromosome 8, 43054644: 43054644
4 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh38 Chromosome 8, 43199501: 43199501
5 HGSNAT NM_152419.2(HGSNAT): c.398G> C (p.Gly133Ala) single nucleotide variant Pathogenic rs797045120 GRCh38 Chromosome 8, 43158949: 43158949
6 HGSNAT NM_152419.2(HGSNAT): c.398G> C (p.Gly133Ala) single nucleotide variant Pathogenic rs797045120 GRCh37 Chromosome 8, 43014092: 43014092
7 HGSNAT NM_152419.2(HGSNAT): c.370A> T (p.Arg124Trp) single nucleotide variant Pathogenic rs754875934 GRCh37 Chromosome 8, 43013853: 43013853
8 HGSNAT NM_152419.2(HGSNAT): c.370A> T (p.Arg124Trp) single nucleotide variant Pathogenic rs754875934 GRCh38 Chromosome 8, 43158710: 43158710
9 HGSNAT NM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr) single nucleotide variant Likely benign rs112029032 GRCh38 Chromosome 8, 43199504: 43199504
10 HGSNAT NM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr) single nucleotide variant Likely benign rs112029032 GRCh37 Chromosome 8, 43054647: 43054647
11 HGSNAT NM_152419.2(HGSNAT): c.1693G> C (p.Gly565Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148632988 GRCh37 Chromosome 8, 43053062: 43053062
12 HGSNAT NM_152419.2(HGSNAT): c.1693G> C (p.Gly565Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148632988 GRCh38 Chromosome 8, 43197919: 43197919
13 HGSNAT NM_152419.2(HGSNAT): c.1567A> C (p.Lys523Gln) single nucleotide variant Benign/Likely benign rs73569592 GRCh37 Chromosome 8, 43052839: 43052839
14 HGSNAT NM_152419.2(HGSNAT): c.1567A> C (p.Lys523Gln) single nucleotide variant Benign/Likely benign rs73569592 GRCh38 Chromosome 8, 43197696: 43197696
15 HGSNAT NM_152419.2(HGSNAT): c.1727-9C> G single nucleotide variant Benign rs76750342 GRCh37 Chromosome 8, 43054522: 43054522
16 HGSNAT NM_152419.2(HGSNAT): c.1727-9C> G single nucleotide variant Benign rs76750342 GRCh38 Chromosome 8, 43199379: 43199379
17 HGSNAT NC_000008.11: g.(?_43103529)_(43199589_?)dup duplication Uncertain significance GRCh37 Chromosome 8, 42958672: 43054732
18 HGSNAT NC_000008.11: g.(?_43103529)_(43199589_?)dup duplication Uncertain significance GRCh38 Chromosome 8, 43103529: 43199589
19 HGSNAT NM_152419.2(HGSNAT): c.887C> A (p.Ser296Ter) single nucleotide variant Pathogenic rs372933126 GRCh38 Chromosome 8, 43178109: 43178109
20 HGSNAT NM_152419.2(HGSNAT): c.887C> A (p.Ser296Ter) single nucleotide variant Pathogenic rs372933126 GRCh37 Chromosome 8, 43033252: 43033252
21 HGSNAT NM_152419.2(HGSNAT): c.1347C> T (p.Asp449=) single nucleotide variant Likely benign rs752420375 GRCh37 Chromosome 8, 43047543: 43047543
22 HGSNAT NM_152419.2(HGSNAT): c.1347C> T (p.Asp449=) single nucleotide variant Likely benign rs752420375 GRCh38 Chromosome 8, 43192400: 43192400

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 CCL2 CXCL1 CXCL2 IL1B
2
Show member pathways
12.95 CCL2 CXCL1 CXCL2 IL1B
3
Show member pathways
12.69 CCL2 CXCL1 CXCL2 IL1B
4
Show member pathways
12.28 CCL2 CXCL1 IL1B
5
Show member pathways
11.96 CCL2 CXCL1 CXCL2 IL1B
6
Show member pathways
11.74 CCL2 CXCL1 CXCL2
7 11.65 CCL2 F3 IL1B
8 11.59 CCL2 CXCL1 IL1B
9 11.55 CCL2 F3
10 11.54 CXCL1 CXCL2 IL1B
11 11.54 CCL2 CXCL1 CXCL2 IL1B
12
Show member pathways
11.38 CXCL2 IL1B
13 11.38 CCL2 CXCL2 IL1B
14 11.29 CCL2 CXCL1 CXCL2 IL1B
15 11.28 CXCL1 CXCL2 IL1B
16 11.25 CCL2 IL1B
17 11.23 CCL2 IL1B
18 10.92 CCL2 IL1B
19 10.91 CXCL1 CXCL2 IL1B
20 10.71 CCL2 IL1B
21 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 14)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.67 CCL2 CXCL1 CXCL2 IL1B
2 regulation of signaling receptor activity GO:0010469 9.62 CCL2 CXCL1 CXCL2 IL1B
3 response to lipopolysaccharide GO:0032496 9.61 CXCL1 CXCL2 IL1B
4 chemotaxis GO:0006935 9.58 CCL2 CXCL1 CXCL2
5 inflammatory response GO:0006954 9.56 CCL2 CXCL1 CXCL2 IL1B
6 cellular response to organic cyclic compound GO:0071407 9.54 CCL2 IL1B
7 neutrophil chemotaxis GO:0030593 9.52 CCL2 IL1B
8 protein kinase B signaling GO:0043491 9.51 CCL2 IL1B
9 lipopolysaccharide-mediated signaling pathway GO:0031663 9.49 CCL2 IL1B
10 positive regulation of neutrophil chemotaxis GO:0090023 9.48 CXCL1 CXCL2
11 positive regulation of leukocyte chemotaxis GO:0002690 9.46 CXCL1 CXCL2
12 cell chemotaxis GO:0060326 9.33 CCL2 CXCL1 CXCL2
13 chemokine-mediated signaling pathway GO:0070098 9.13 CCL2 CXCL1 CXCL2
14 cytokine-mediated signaling pathway GO:0019221 9.02 CCL2 CXCL1 CXCL2 F3 IL1B

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
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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