RP59
MCID: RTN171
MIFTS: 30

Retinitis Pigmentosa 59 (RP59)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 59

MalaCards integrated aliases for Retinitis Pigmentosa 59:

Name: Retinitis Pigmentosa 59 58 12 76 30 13 6 15 74
Rp59 58 12 76
Congenital Disorder of Glycosylation, Type 1bb 58
Congenital Disorder of Glycosylation Type 1bb 6
Congenital Disorder of Glycosylation 1bb 76
Retinitis Pigmentosa, Type 59 ) 41
Cdg1bb 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one infant (patient a) with fatal cdg type i has been reported (last curated january 2018)


HPO:

33
retinitis pigmentosa 59:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa 59

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 1BB: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1BB inheritance is autosomal recessive. Retinitis pigmentosa 59: 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 59, is also known as rp59. An important gene associated with Retinitis Pigmentosa 59 is DHDDS (Dehydrodolichyl Diphosphate Synthase Subunit). Affiliated tissues include bone and eye, and related phenotypes are cystoid macular edema and seizures

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the DHDDS gene on chromosome 1p36.11.

Description from OMIM: 613861

Related Diseases for Retinitis Pigmentosa 59

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
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 59

Human phenotypes related to Retinitis Pigmentosa 59:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 cystoid macular edema 33 occasional (7.5%) HP:0011505
2 seizures 33 HP:0001250
3 spasticity 33 HP:0001257
4 failure to thrive 33 HP:0001508
5 hepatomegaly 33 HP:0002240
6 cryptorchidism 33 HP:0000028
7 intrauterine growth retardation 33 HP:0001511
8 rod-cone dystrophy 33 HP:0000510
9 micropenis 33 HP:0000054
10 elevated hepatic transaminase 33 HP:0002910

Symptoms via clinical synopsis from OMIM:

58
Genitourinary External Genitalia Male:
micropenis (patient a)
cryptorchidism (patient a)

Head And Neck Eyes:
cystoid macular edema (in some patients)
bone spicule-like pigmentation
visual acuity ranges from 20/20 to light perception only
impaired night vision
reduced peripheral vision (early)
more
Head And Neck Ears:
sensorineural deafness (patient a)

Abdomen Gastrointestinal:
poor feeding (patient a)

Muscle Soft Tissue:
axial hypotonia (patient a)

Neurologic Central Nervous System:
seizures (patient a)
spasticity (patient a)

Growth Other:
intrauterine growth retardation (patient a)
failure to thrive (patient a)

Abdomen Liver:
enlarged liver (patient a)
elevated liver enzymes (patient a)

Genitourinary Kidneys:
renal failure (patient a)

Laboratory Abnormalities:
hypoglycosylation of plasma proteins (patient a)
increased levels of shortened plasma and urinary dolichols

Clinical features from OMIM:

613861

Drugs & Therapeutics for Retinitis Pigmentosa 59

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 59

Genetic Tests for Retinitis Pigmentosa 59

Genetic tests related to Retinitis Pigmentosa 59:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 59 30 DHDDS

Anatomical Context for Retinitis Pigmentosa 59

MalaCards organs/tissues related to Retinitis Pigmentosa 59:

42
Bone, Eye

Publications for Retinitis Pigmentosa 59

Articles related to Retinitis Pigmentosa 59:

# Title Authors Year
1
Rat enamel contains RP59: a new context for a protein from osteogenic and haematopoietic precursor cells. ( 15726423 )
2005
2
RP59, a marker for osteoblast recruitment, is also detected in primitive mesenchymal cells, erythroid cells, and megakaryocytes. ( 11891990 )
2002
3
Depletion of yeast ribosomal proteins L16 or rp59 disrupts ribosome assembly. ( 2277060 )
1990
4
Ribosomal protein synthesis is not regulated at the translational level in Saccharomyces cerevisiae: balanced accumulation of ribosomal proteins L16 and rp59 is mediated by turnover of excess protein. ( 3047007 )
1988
5
On the sequence homology of the ribosomal proteins, Escherichia coli S11, yeast rp59 and Chinese hamster S14. ( 3522274 )
1986

Variations for Retinitis Pigmentosa 59

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 59:

76
# Symbol AA change Variation ID SNP ID
1 DHDDS p.Lys42Glu VAR_065356 rs147394623

ClinVar genetic disease variations for Retinitis Pigmentosa 59:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 DHDDS NM_024887.3(DHDDS): c.124A> G (p.Lys42Glu) single nucleotide variant Pathogenic rs147394623 GRCh37 Chromosome 1, 26764719: 26764719
2 DHDDS NM_024887.3(DHDDS): c.124A> G (p.Lys42Glu) single nucleotide variant Pathogenic rs147394623 GRCh38 Chromosome 1, 26438228: 26438228
3 DHDDS NM_024887.3(DHDDS): c.943C> T (p.Leu315=) single nucleotide variant Likely benign rs1553124038 GRCh37 Chromosome 1, 26795560: 26795560
4 DHDDS NM_024887.3(DHDDS): c.943C> T (p.Leu315=) single nucleotide variant Likely benign rs1553124038 GRCh38 Chromosome 1, 26469069: 26469069
5 DHDDS NM_024887.3(DHDDS): c.192G> A (p.Trp64Ter) single nucleotide variant Pathogenic rs1553121545 GRCh37 Chromosome 1, 26769233: 26769233
6 DHDDS NM_024887.3(DHDDS): c.192G> A (p.Trp64Ter) single nucleotide variant Pathogenic rs1553121545 GRCh38 Chromosome 1, 26442742: 26442742
7 DHDDS NM_024887.3(DHDDS): c.441-24A> G single nucleotide variant Pathogenic rs764831063 GRCh38 Chromosome 1, 26447535: 26447535
8 DHDDS NM_024887.3(DHDDS): c.441-24A> G single nucleotide variant Pathogenic rs764831063 GRCh37 Chromosome 1, 26774026: 26774026
9 DHDDS NM_024887.3(DHDDS): c.33T> C (p.Leu11=) single nucleotide variant Likely benign rs139193738 GRCh37 Chromosome 1, 26759469: 26759469
10 DHDDS NM_024887.3(DHDDS): c.33T> C (p.Leu11=) single nucleotide variant Likely benign rs139193738 GRCh38 Chromosome 1, 26432978: 26432978
11 DHDDS NM_024887.3(DHDDS): c.271G> C (p.Asp91His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 26442821: 26442821
12 DHDDS NM_024887.3(DHDDS): c.271G> C (p.Asp91His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 26769312: 26769312
13 DHDDS NM_024887.3(DHDDS): c.614G> A (p.Arg205Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 26457862: 26457862
14 DHDDS NM_024887.3(DHDDS): c.614G> A (p.Arg205Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 26784353: 26784353

Expression for Retinitis Pigmentosa 59

Search GEO for disease gene expression data for Retinitis Pigmentosa 59.

Pathways for Retinitis Pigmentosa 59

GO Terms for Retinitis Pigmentosa 59

Biological processes related to Retinitis Pigmentosa 59 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 8.62 RPL36 UPF1

Sources for Retinitis Pigmentosa 59

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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