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 54 12 71 29 14
Rp73 12 71

Characteristics:

OMIM:

54
Miscellaneous:
variable age at onset of symptoms (from childhood to the sixth decade of life)

Inheritance:
autosomal recessive


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 : 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 allergic bronchopulmonary aspergillosis and megaloblastic anemia, 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 59 Retinitis Pigmentosa 76
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 75 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 79 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 77
Retinitis Pigmentosa 78 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
Late-Adult Onset Retinitis Pigmentosa Nonsyndromic Retinitis Pigmentosa
Abca4-Related Retinitis Pigmentosa Agbl5-Related Retinitis Pigmentosa
Aipl1-Related Retinitis Pigmentosa Arl2bp-Related Retinitis Pigmentosa
Arl6-Related Retinitis Pigmentosa Bbs2-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
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

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 allergic bronchopulmonary aspergillosis 10.2 CCL2 CXCL1
2 megaloblastic anemia 10.2 F3 IL1B
3 cervix squamous papilloma 10.1 F3 IL1B
4 interval angle-closure glaucoma 10.1 CCL2 IL1B
5 parovarian cyst 10.1 CCL2 IL1B
6 necrotic uveal melanoma 10.1 F3 IL1B
7 ovarian mucinous adenofibroma 10.1 CCL2 IL1B
8 high pressure neurological syndrome 10.1 CCL2 IL1B
9 ostertagiasis 10.1 CCL2 IL1B
10 askin's tumor 10.1 CCL2 IL1B
11 osmotic diarrhea 10.1 CCL2 IL1B
12 atrophy of prostate 10.1 CCL2 IL1B
13 choroiditis 10.1 CCL2 IL1B
14 status epilepticus 10.0 CCL2 IL1B
15 carcinoma arising in nasal papillomatosis 10.0 CCL2 IL1B
16 sinusitis 10.0 CCL2 IL1B
17 neonatal period electroclinical syndrome 10.0 CCL2 IL1B
18 asbestosis 10.0 CCL2 IL1B
19 cervix disease 10.0 CCL2 IL1B
20 ragweed sensitivity 10.0 CCL2 IL1B
21 reticulosarcoma 10.0 F3 IL1B
22 mesenchymal cell neoplasm 10.0 CCL2 IL1B
23 acute chest syndrome 9.9 CCL2 IL1B
24 lacrimal system cancer 9.9 F3 IL1B
25 hyperpigmentation of eyelid 9.9 CCL2 IL1B
26 cystic fibrosis 9.9
27 inflammatory bowel disease 3 9.8 CCL2 IL1B
28 vulva fibroepithelial polyp 9.7 CCL2 IL1B
29 eosinophilic gastroenteritis 9.7 CXCL1 IL1B
30 survival motor neuron spinal muscular atrophy 9.6 CCL2 IL1B
31 pulmonary embolism 9.6 CCL2 CXCL1 IL1B
32 diamond-blackfan anemia 3 9.6 CCL2 CXCL1 IL1B
33 detrusor sphincter dyssynergia 9.4 CCL2 IL1B
34 stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features 9.3 CCL2 CXCL2 IL1B
35 scabies 9.3 CCL2 CXCL2 IL1B
36 causalgia 9.3 CCL2 CXCL2 IL1B
37 rheumatoid arthritis 9.2 CCL2 CXCL1 IL1B
38 optic nerve hypoplasia 8.8 CCL2 CXCL1 CXCL2 IL1B
39 adenoid squamous cell carcinoma 8.8 CCL2 CXCL1 CXCL2 IL1B
40 mental retardation, autosomal dominant 32 7.5 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 via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
thinning of neurosensory retina in posterior pole on oct
diffuse atrophy of rpe on optical coherence tomography (oct)
attenuation of retinal vessels
bone-spicule pigmentation in the midperiphery
choroidal sclerosis
more

Clinical features from OMIM:

616544

Human phenotypes related to Retinitis Pigmentosa 73:

32
id Description HPO Frequency HPO Source Accession
1 nyctalopia 32 HP:0000662
2 rod-cone dystrophy 32 HP:0000510
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:

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
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 73

Variations for Retinitis Pigmentosa 73

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

71
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 cellular response to drug GO:0035690 9.52 CCL2 IL1B
7 positive regulation of endothelial cell proliferation GO:0001938 9.51 CCL2 F3
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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