RP73
MCID: RTN177
MIFTS: 32

Retinitis Pigmentosa 73 (RP73)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 73

MalaCards integrated aliases for Retinitis Pigmentosa 73:

Name: Retinitis Pigmentosa 73 56 12 73 29 6 15
Rp73 56 12 73
Retinitis Pigmentosa, Type 73 39

Characteristics:

OMIM:

56
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:

Disease Ontology 12 DOID:0110389
OMIM 56 616544
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5

Summaries for Retinitis Pigmentosa 73

UniProtKB/Swiss-Prot : 73 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 cystic fibrosis and fibrosis of extraocular muscles, congenital, 1. An important gene associated with Retinitis Pigmentosa 73 is HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase). Affiliated tissues include eye, retina and lung, 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.

More information from OMIM: 616544 PS268000

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Nonsyndromic Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 cystic fibrosis 10.4
2 fibrosis of extraocular muscles, congenital, 1 10.2
3 lung disease 10.2
4 retinitis pigmentosa 69 10.0 POMGNT1 ARHGEF18
5 retinitis pigmentosa 72 10.0 POMGNT1 ARHGEF18
6 retinitis pigmentosa 68 9.9 POMGNT1 ARHGEF18
7 retinitis pigmentosa 71 9.9 POMGNT1 ARHGEF18
8 retinitis pigmentosa 74 9.8 POMGNT1 ARHGEF18
9 choroidal dystrophy, central areolar, 1 9.8 HGSNAT CERKL
10 retinitis pigmentosa 9.3 POMGNT1 PACS2 HGSNAT CERKL ARHGEF18

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



Diseases related to Retinitis Pigmentosa 73

Symptoms & Phenotypes for Retinitis Pigmentosa 73

Human phenotypes related to Retinitis Pigmentosa 73:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 nyctalopia 31 HP:0000662
3 pallor 31 HP:0000980
4 constriction of peripheral visual field 31 HP:0001133
5 retinal atrophy 31 HP:0001105

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
retinal atrophy
night blindness
visual field constriction
choroidal sclerosis
attenuation of retinal vessels
more

Clinical features from OMIM:

616544

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:

40
Eye, Retina, Lung, Bone, Neutrophil

Publications for Retinitis Pigmentosa 73

Articles related to Retinitis Pigmentosa 73:

(show all 18)
# Title Authors PMID Year
1
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). 56 6
25859010 2015
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 6
20583299 2010
5
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 6
19479962 2009
6
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 6
17033958 2006
7
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
8
The small quinolone derived compound HT61 enhances the effect of tobramycin against Pseudomonas aeruginosa in vitro and in vivo. 61
31887372 2019
9
Aerosolized Bovine Lactoferrin Counteracts Infection, Inflammation and Iron Dysbalance in A Cystic Fibrosis Mouse Model of Pseudomonas aeruginosa Chronic Lung Infection. 61
31052156 2019
10
Resolvin D1 enhances the resolution of lung inflammation caused by long-term Pseudomonas aeruginosa infection. 61
28422188 2018
11
Post-exposure immunization by capsid-modified AdC7 vector expressing Pseudomonas aeruginosa OprF clears P. aeruginosa respiratory infection. 61
29126807 2017
12
Aerosolized bovine lactoferrin reduces neutrophils and pro-inflammatory cytokines in mouse models of Pseudomonas aeruginosa lung infections. 61
28129511 2017
13
Comparative genomics and biological characterization of sequential Pseudomonas aeruginosa isolates from persistent airways infection. 61
26714629 2015
14
Persistent cystic fibrosis isolate Pseudomonas aeruginosa strain RP73 exhibits an under-acylated LPS structure responsible of its low inflammatory activity. 61
24856407 2015
15
A novel signal transduction pathway that modulates rhl quorum sensing and bacterial virulence in Pseudomonas aeruginosa. 61
25166864 2014
16
Long term chronic Pseudomonas aeruginosa airway infection in mice. 61
24686327 2014
17
Complete Genome Sequence of Persistent Cystic Fibrosis Isolate Pseudomonas aeruginosa Strain RP73. 61
23908295 2013
18
The therapeutic potential of the humoral pattern recognition molecule PTX3 in chronic lung infection caused by Pseudomonas aeruginosa. 61
21441447 2011

Variations for Retinitis Pigmentosa 73

ClinVar genetic disease variations for Retinitis Pigmentosa 73:

6 (show all 27) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HGSNAT NM_152419.3(HGSNAT):c.398G>C (p.Gly133Ala)SNV Pathogenic 208814 rs797045120 8:43014092-43014092 8:43158949-43158949
2 HGSNAT NM_152419.3(HGSNAT):c.493+1G>ASNV Pathogenic 1230 rs193066451 8:43014188-43014188 8:43159045-43159045
3 HGSNAT NM_152419.3(HGSNAT):c.234+1G>ASNV Pathogenic 30832 rs483352908 8:43002207-43002207 8:43147064-43147064
4 HGSNAT NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)SNV Pathogenic 265483 rs753355844 8:43048933-43048933 8:43193790-43193790
5 HGSNAT NM_152419.3(HGSNAT):c.739del (p.Arg247fs)deletion Pathogenic 426971 rs1085307880 8:43025833-43025833 8:43170690-43170690
6 HGSNAT NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter)SNV Pathogenic 542424 rs372933126 8:43033252-43033252 8:43178109-43178109
7 HGSNAT NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)SNV Pathogenic 549921 rs775078211 8:43046638-43046638 8:43191495-43191495
8 HGSNAT NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)SNV Pathogenic 569073 rs756310864 8:43052991-43052991 8:43197848-43197848
9 HGSNAT NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter)SNV Pathogenic 651853 8:43002136-43002136 8:43146993-43146993
10 HGSNAT NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)SNV Pathogenic 569138 rs1563366896 8:43024359-43024359 8:43169216-43169216
11 HGSNAT NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)SNV Pathogenic/Likely pathogenic 1237 rs121908285 8:43037305-43037305 8:43182162-43182162
12 HGSNAT NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)SNV Likely pathogenic 1232 rs121908282 8:43028883-43028883 8:43173740-43173740
13 HGSNAT NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)SNV Conflicting interpretations of pathogenicity 208816 rs112029032 8:43054647-43054647 8:43199504-43199504
14 HGSNAT NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)duplication Conflicting interpretations of pathogenicity 1231 rs483352894 8:43047540-43047541 8:43192397-43192398
15 HGSNAT NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)SNV Uncertain significance 208815 rs754875934 8:43013853-43013853 8:43158710-43158710
16 HGSNAT NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)SNV Uncertain significance 420117 rs192857413 8:43054684-43054684 8:43199541-43199541
17 HGSNAT NC_000008.10:g.(?_42958672)_(43054732_?)dupduplication Uncertain significance 542426 8:42958672-43054732 8:43103529-43199589
18 HGSNAT NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)duplication Uncertain significance 550260 rs961025173 8:42995668-42995669 8:43140525-43140526
19 HGSNAT NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro)SNV Uncertain significance 552118 rs765211666 8:43013821-43013821 8:43158678-43158678
20 HGSNAT NM_152419.3(HGSNAT):c.235-9T>GSNV Uncertain significance 548461 rs913764481 8:43013709-43013709 8:43158566-43158566
21 HGSNAT NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg)indel Uncertain significance 582509 rs1563386838 8:43053056-43053057 8:43197913-43197914
22 HGSNAT NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu)SNV Uncertain significance 578653 rs1490698793 8:42995728-42995728 8:43140585-43140585
23 HGSNAT NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn)SNV Uncertain significance 647671 8:43024368-43024368 8:43169225-43169225
24 HGSNAT NM_152419.3(HGSNAT):c.701C>G (p.Ser234Cys)SNV Uncertain significance 644210 8:43025795-43025795 8:43170652-43170652
25 HGSNAT NM_152419.3(HGSNAT):c.713C>T (p.Pro238Leu)SNV Uncertain significance 641346 8:43025807-43025807 8:43170664-43170664
26 HGSNAT NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr)SNV Uncertain significance 640821 8:43037374-43037374 8:43182231-43182231
27 HGSNAT NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)SNV Benign/Likely benign 363150 rs73569592 8:43052839-43052839 8:43197696-43197696

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

73
# Symbol AA change Variation ID SNP ID
1 HGSNAT p.Arg152Trp VAR_075814
2 HGSNAT p.Gly161Ala VAR_075815

Expression for Retinitis Pigmentosa 73

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

Pathways for Retinitis Pigmentosa 73

GO Terms for Retinitis Pigmentosa 73

Sources for Retinitis Pigmentosa 73

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72 UMLS via Orphanet
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