RP73
MCID: RTN177
MIFTS: 35

Retinitis Pigmentosa 73 (RP73) malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 73

Aliases & Descriptions for Retinitis Pigmentosa 73:

Name: Retinitis Pigmentosa 73 54 12 66 29 14
Rp73 12 66

Characteristics:

HPO:

32
retinitis pigmentosa 73:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 616544
Disease Ontology 12 DOID:0110389
ICD10 33 H35.5
MedGen 40 CN232556
MeSH 42 D012174

Summaries for Retinitis Pigmentosa 73

UniProtKB/Swiss-Prot : 66 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 megaloblastic anemia and allergic bronchopulmonary aspergillosis, and has symptoms including rod-cone dystrophy, constriction of peripheral visual field and nyctalopia. 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 eye.

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 59 Retinitis Pigmentosa 20
Retinitis Pigmentosa 19 Retinitis Pigmentosa 32
Retinitis Pigmentosa 18 Retinitis Pigmentosa 35
Retinitis Pigmentosa-12, Autosomal Recessive Retinitis Pigmentosa 67
Retinitis Pigmentosa 39 Retinitis Pigmentosa 58
Retinitis Pigmentosa 54 Retinitis Pigmentosa 71
Retinitis Pigmentosa 28 Retinitis Pigmentosa 33
Retinitis Pigmentosa 38 Retinitis Pigmentosa 26
Retinitis Pigmentosa 47 Retinitis Pigmentosa 55
Retinitis Pigmentosa 56 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive
Retinitis Pigmentosa 61 Retinitis Pigmentosa 68
Retinitis Pigmentosa-40 Retinitis Pigmentosa 41
Retinitis Pigmentosa 49 Retinitis Pigmentosa 29
Retinitis Pigmentosa 43 Retinitis Pigmentosa 62
Retinitis Pigmentosa 14 Retinitis Pigmentosa 48
Retinitis Pigmentosa 25 Retinitis Pigmentosa 63
Retinitis Pigmentosa 42 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa 73
Retinitis Pigmentosa 1 Retinitis Pigmentosa 31
Retinitis Pigmentosa 70 Retinitis Pigmentosa 66
Retinitis Pigmentosa 44 Retinitis Pigmentosa 72
Retinitis Pigmentosa-50 Retinitis Pigmentosa 27
Retinitis Pigmentosa 51 Retinitis Pigmentosa 37
Retinitis Pigmentosa 22 Retinitis Pigmentosa 45
Retinitis Pigmentosa 74 Retinitis Pigmentosa 13
Retinitis Pigmentosa 36 Retinitis Pigmentosa 17
Retinitis Pigmentosa 30 Retinitis Pigmentosa 57
Retinitis Pigmentosa 11 Retinitis Pigmentosa 46
Retinitis Pigmentosa 69 Retinitis Pigmentosa 60
Retinitis Pigmentosa 23 Retinitis Pigmentosa 3
Retinitis Pigmentosa 2 Retinitis Pigmentosa 24
Retinitis Pigmentosa 34 Retinitis Pigmentosa 75
Late-Adult Onset Retinitis Pigmentosa Nonsyndromic Retinitis Pigmentosa
Bbs2-Related Retinitis Pigmentosa Abca4-Related Retinitis Pigmentosa
Agbl5-Related Retinitis Pigmentosa Aipl1-Related Retinitis Pigmentosa
Arl2bp-Related Retinitis Pigmentosa Arl6-Related Retinitis Pigmentosa
Best1-Related Retinitis Pigmentosa C2orf71-Related Retinitis Pigmentosa
C8orf37-Related Retinitis Pigmentosa Ca4-Related Retinitis Pigmentosa
Cerkl-Related Retinitis Pigmentosa Clrn1-Related Retinitis Pigmentosa
Cnga1-Related Retinitis Pigmentosa Cngb1-Related Retinitis Pigmentosa
Crb1-Related Retinitis Pigmentosa Crx-Related Retinitis Pigmentosa
Dhdds-Related Retinitis Pigmentosa Eys-Related Retinitis Pigmentosa
Fam161a-Related Retinitis Pigmentosa Fscn2-Related Retinitis Pigmentosa
Guca1b-Related Retinitis Pigmentosa Idh3b-Related Retinitis Pigmentosa
Impdh1-Related Retinitis Pigmentosa Impg2-Related Retinitis Pigmentosa
Kiz-Related Retinitis Pigmentosa Klhl7-Related Retinitis Pigmentosa
Lrat-Related Retinitis Pigmentosa Mak-Related Retinitis Pigmentosa
Mertk-Related Retinitis Pigmentosa Nr2e3-Related Retinitis Pigmentosa
Nrl-Related Retinitis Pigmentosa Ofd1-Related Retinitis Pigmentosa
Pde6a-Related Retinitis Pigmentosa Pde6b-Related Retinitis Pigmentosa
Pde6g-Related Retinitis Pigmentosa Prcd-Related Retinitis Pigmentosa
Prom1-Related Retinitis Pigmentosa Prpf3-Related Retinitis Pigmentosa
Prpf31-Related Retinitis Pigmentosa Prpf4-Related Retinitis Pigmentosa
Prpf6-Related Retinitis Pigmentosa Prpf8-Related Retinitis Pigmentosa
Prph2-Related Retinitis Pigmentosa Rbp3-Related Retinitis Pigmentosa
Rdh12-Related Retinitis Pigmentosa Rgr-Related Retinitis Pigmentosa
Rho-Related Retinitis Pigmentosa Rom1-Related Retinitis Pigmentosa
Rp1-Related Retinitis Pigmentosa Rp2-Related Retinitis Pigmentosa
Rp9-Related Retinitis Pigmentosa Rpe65-Related Retinitis Pigmentosa
Rpgr-Related Retinitis Pigmentosa Sag-Related Retinitis Pigmentosa
Sema4a-Related Retinitis Pigmentosa Slc7a14-Related Retinitis Pigmentosa
Snrnp200-Related Retinitis Pigmentosa Spata7-Related Retinitis Pigmentosa
Topors-Related Retinitis Pigmentosa Ttc8-Related Retinitis Pigmentosa
Tulp1-Related Retinitis Pigmentosa Ush2a-Related Retinitis Pigmentosa
Znf513-Related Retinitis Pigmentosa Retinitis Pigmentosa 76
Retinitis Pigmentosa 77

Diseases related to Retinitis Pigmentosa 73 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 megaloblastic anemia 10.1 F3 IL1B
2 allergic bronchopulmonary aspergillosis 10.1 CCL2 CXCL1
3 interval angle-closure glaucoma 10.0 CCL2 IL1B
4 bladder signet ring cell adenocarcinoma 10.0 CCL2 IL1B
5 oral cavity carcinoma in situ 10.0 CCL2 IL1B
6 uterine corpus cancer 10.0 F3 IL1B
7 motility-related diarrhea 10.0 CCL2 IL1B
8 central nervous system lymphoma 10.0 CCL2 IL1B
9 tuberculosis 10.0 CCL2 IL1B
10 atrophy of prostate 10.0 CCL2 IL1B
11 spinal multifocal clear cell meningioma 10.0 F3 IL1B
12 choroiditis 10.0 CCL2 IL1B
13 skin conditions 10.0 CCL2 IL1B
14 breast apocrine carcinoma in situ 10.0 CCL2 IL1B
15 status epilepticus 10.0 CCL2 IL1B
16 infancy electroclinical syndrome 9.9 CCL2 IL1B
17 baritosis 9.9 CCL2 IL1B
18 cervix disease 9.9 CCL2 IL1B
19 granulomatous hepatitis 9.9 F3 IL1B
20 cystic fibrosis 9.9
21 pulmonary eosinophilia 9.8 CCL2 CXCL1 IL1B
22 aortic aneurysm, familial thoracic 6 9.8 CCL2 CXCL1 IL1B
23 unilateral hypoactive labyrinth 9.8 CXCL1 IL1B
24 steroid dehydrogenase deficiency dental anomalies 9.7 CCL2 CXCL2 IL1B
25 sclerosing adenosis of breast 9.7 CCL2 CXCL2 IL1B
26 complex regional pain syndrome 9.7 CCL2 CXCL2 IL1B
27 optic nerve hypoplasia 9.5 CCL2 CXCL1 CXCL2 IL1B
28 rectum squamous cell carcinoma 9.5 CCL2 CXCL1 CXCL2 IL1B
29 muscular dystrophy-dystroglycanopathy , type a, 12 9.1 CCL2 CXCL1 CXCL2 F3 HGSNAT 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 by clinical synopsis from OMIM:

616544

Clinical features from OMIM:

616544

Human phenotypes related to Retinitis Pigmentosa 73:

32
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 constriction of peripheral visual field 32 HP:0001133
3 nyctalopia 32 HP:0000662
4 retinal atrophy 32 HP:0001105

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:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa 73 29

Anatomical Context for Retinitis Pigmentosa 73

MalaCards organs/tissues related to Retinitis Pigmentosa 73:

39
Eye

Publications for Retinitis Pigmentosa 73

Variations for Retinitis Pigmentosa 73

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

66
id 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
id 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 22)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 CCL2 CXCL1 CXCL2 IL1B
2
Show member pathways
12.96 CCL2 CXCL1 CXCL2 IL1B
3
Show member pathways
12.64 CCL2 CXCL1 CXCL2 F3 IL1B
4
Show member pathways
12.28 CCL2 CXCL1 IL1B
5
Show member pathways
12 CCL2 CXCL1 CXCL2 IL1B
6
Show member pathways
11.79 CCL2 CXCL1 CXCL2
7 11.68 CCL2 F3 IL1B
8 11.63 CCL2 CXCL1 IL1B
9 11.59 CXCL1 CXCL2 IL1B
10 11.54 CCL2 F3
11 11.54 CCL2 CXCL1 CXCL2 IL1B
12 11.43 CCL2 CXCL2 IL1B
13
Show member pathways
11.38 CXCL2 IL1B
14 11.35 CXCL1 CXCL2 IL1B
15 11.29 CCL2 CXCL1 CXCL2 IL1B
16 11.26 CCL2 IL1B
17 11.24 CCL2 IL1B
18 10.95 CCL2 IL1B
19 10.91 CXCL1 CXCL2 IL1B
20 10.85 CCL2 CXCL1 CXCL2 IL1B
21 10.74 CCL2 IL1B
22 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:

id 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)
id Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.62 CCL2 CXCL1 CXCL2 IL1B
2 chemotaxis GO:0006935 9.58 CCL2 CXCL1 CXCL2
3 inflammatory response GO:0006954 9.56 CCL2 CXCL1 CXCL2 IL1B
4 cellular response to organic cyclic compound GO:0071407 9.54 CCL2 IL1B
5 cytokine-mediated signaling pathway GO:0019221 9.54 CCL2 F3 IL1B
6 positive regulation of endothelial cell proliferation GO:0001938 9.52 CCL2 F3
7 cellular response to drug GO:0035690 9.51 CCL2 IL1B
8 neutrophil chemotaxis GO:0030593 9.49 CCL2 IL1B
9 protein kinase B signaling GO:0043491 9.48 CCL2 IL1B
10 lipopolysaccharide-mediated signaling pathway GO:0031663 9.46 CCL2 IL1B
11 positive regulation of neutrophil chemotaxis GO:0090023 9.43 CXCL1 CXCL2
12 chemokine-mediated signaling pathway GO:0070098 9.33 CCL2 CXCL1 CXCL2
13 cell chemotaxis GO:0060326 9.13 CCL2 CXCL1 CXCL2
14 response to lipopolysaccharide GO:0032496 8.92 CCL2 CXCL1 CXCL2 IL1B

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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