RP59
MCID: RTN171
MIFTS: 35

Retinitis Pigmentosa 59 (RP59)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 59

MalaCards integrated aliases for Retinitis Pigmentosa 59:

Name: Retinitis Pigmentosa 59 57 12 72 29 13 6 15 70
Rp59 57 12 72
Congenital Disorder of Glycosylation, Type 1bb 57
Congenital Disorder of Glycosylation 1bb 72
Retinitis Pigmentosa, Type 59 39
Cdg1bb 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
retinitis pigmentosa 59:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa 59

UniProtKB/Swiss-Prot : 72 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, also known as rp59, is related to retinitis pigmentosa and neuroretinitis. An important gene associated with Retinitis Pigmentosa 59 is DHDDS (Dehydrodolichyl Diphosphate Synthase Subunit). Affiliated tissues include eye, retina and liver, and related phenotypes are cystoid macular edema and spasticity

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

More information from OMIM: 613861 PS212065 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 59 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 9.9
2 neuroretinitis 9.9
3 retinitis 9.9
4 retinal degeneration 9.9
5 retinitis pigmentosa 62 9.5 PEX1 NDUFAF5
6 epidermolysis bullosa, junctional, herlitz type 9.4 PEX1 NDUFAF5

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 59:



Diseases related to Retinitis Pigmentosa 59

Symptoms & Phenotypes for Retinitis Pigmentosa 59

Human phenotypes related to Retinitis Pigmentosa 59:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 cystoid macular edema 31 occasional (7.5%) HP:0011505
2 spasticity 31 HP:0001257
3 failure to thrive 31 HP:0001508
4 hepatomegaly 31 HP:0002240
5 sensorineural hearing impairment 31 HP:0000407
6 renal insufficiency 31 HP:0000083
7 cryptorchidism 31 HP:0000028
8 intrauterine growth retardation 31 HP:0001511
9 elevated hepatic transaminase 31 HP:0002910
10 micropenis 31 HP:0000054
11 rod-cone dystrophy 31 HP:0000510
12 feeding difficulties 31 HP:0011968
13 muscular hypotonia of the trunk 31 HP:0008936
14 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 29 DHDDS

Anatomical Context for Retinitis Pigmentosa 59

MalaCards organs/tissues related to Retinitis Pigmentosa 59:

40
Eye, Retina, Liver, Bone, Bone Marrow

Publications for Retinitis Pigmentosa 59

Articles related to Retinitis Pigmentosa 59:

(show all 37)
# Title Authors PMID Year
1
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. 57 6
27343064 2016
2
Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa. 6 57
24664694 2014
3
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. 6 57
21295282 2011
4
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. 57 6
21295283 2011
5
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. 6
28130426 2017
6
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. 6
25066056 2014
7
Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis. 57
24078709 2013
8
Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. 6
22110072 2011
9
Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation. 61
32526701 2020
10
Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59. 61
32272552 2020
11
Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration. 61
32245241 2020
12
Short-term effects of amelogenin gene splice products A+4 and A-4 implanted in the exposed rat molar pulp. 61
18154672 2007
13
Dentonin, a MEPE fragment, initiates pulp-healing response to injury. 61
17652210 2007
14
Amelogenin gene splice products A+4 and A-4 implanted in soft tissue determine the reorientation of CD45-positive cells to an osteo-chondrogenic lineage. 61
17001657 2006
15
Early in vivo and in vitro effects of amelogenin gene splice products on pulp cells. 61
16674691 2006
16
The GATA site-dependent hemogen promoter is transcriptionally regulated by GATA1 in hematopoietic and leukemia cells. 61
16437149 2006
17
Rat enamel contains RP59: a new context for a protein from osteogenic and haematopoietic precursor cells. 61
15726423 2005
18
Recruitment of mesenchymal stem cells and expression of TGF-beta 1 and VEGF in the early stage of shock wave-promoted bone regeneration of segmental defect in rats. 61
15099631 2004
19
Alternative promoters and polyadenylation regulate tissue-specific expression of Hemogen isoforms during hematopoiesis and spermatogenesis. 61
14648837 2003
20
RP59, a marker for osteoblast recruitment, is also detected in primitive mesenchymal cells, erythroid cells, and megakaryocytes. 61
11891990 2002
21
A new protein expressed in bone marrow cells and osteoblasts with implication in osteoblast recruitment. 61
11161722 2001
22
Feedback inhibition of the yeast ribosomal protein gene CRY2 is mediated by the nucleotide sequence and secondary structure of CRY2 pre-mRNA. 61
7565797 1995
23
The CRY1 gene in Chlamydomonas reinhardtii: structure and use as a dominant selectable marker for nuclear transformation. 61
8196640 1994
24
Molecular genetics of cryptopleurine resistance in Saccharomyces cerevisiae: expression of a ribosomal protein gene family. 61
8293976 1993
25
Structural and putative regulatory sequences of Kluyveromyces ribosomal protein genes. 61
1481569 1992
26
Altered response to growth rate changes in Kluyveromyces lactis versus Saccharomyces cerevisiae as demonstrated by heterologous expression of ribosomal protein 59 (CRY1) 61
1891361 1991
27
Depletion of yeast ribosomal proteins L16 or rp59 disrupts ribosome assembly. 61
2277060 1990
28
A Neurospora crassa ribosomal protein gene, homologous to yeast CRY1, contains sequences potentially coordinating its transcription with rRNA genes. 61
1977135 1990
29
Efficient transcription of the glycolytic gene ADH1 and three translational component genes requires the GCR1 product, which can act through TUF/GRF/RAP binding sites. 61
2405258 1990
30
Ribosomal protein S14 is encoded by a pair of highly conserved, adjacent genes on the X chromosome of Drosophila melanogaster. 61
3141788 1988
31
Nucleotide sequence of maize chloroplast rpS11 with conserved amino acid sequence between eukaryotes, bacteria and plastids. 61
3149198 1988
32
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. 61
3047007 1988
33
The accumulation of three yeast ribosomal proteins under conditions of excess mRNA is determined primarily by fast protein decay. 61
3275866 1988
34
Structure and expression of the Saccharomyces cerevisiae CRY1 gene: a highly conserved ribosomal protein gene. 61
3037334 1987
35
On the sequence homology of the ribosomal proteins, Escherichia coli S11, yeast rp59 and Chinese hamster S14. 61
3522274 1986
36
Isolation of the SUP45 omnipotent suppressor gene of Saccharomyces cerevisiae and characterization of its gene product. 61
3887137 1985
37
Molecular cloning and biosynthetic regulation of cry1 gene of Saccharomyces cerevisiae. 61
6088947 1984

Variations for Retinitis Pigmentosa 59

ClinVar genetic disease variations for Retinitis Pigmentosa 59:

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DHDDS NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) SNV Pathogenic 30709 rs147394623 GRCh37: 1:26764719-26764719
GRCh38: 1:26438228-26438228
2 DHDDS NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) SNV Pathogenic 30709 rs147394623 GRCh37: 1:26764719-26764719
GRCh38: 1:26438228-26438228
3 DHDDS NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln) SNV Likely pathogenic 570739 rs1557447255 GRCh37: 1:26784353-26784353
GRCh38: 1:26457862-26457862
4 DHDDS NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys) SNV Likely pathogenic 800922 rs1229969030 GRCh37: 1:26786594-26786594
GRCh38: 1:26460103-26460103
5 DHDDS NM_205861.3(DHDDS):c.706A>T (p.Thr236Ser) SNV Uncertain significance 842395 GRCh37: 1:26786576-26786576
GRCh38: 1:26460085-26460085
6 DHDDS NM_205861.3(DHDDS):c.892C>T (p.Arg298Cys) SNV Uncertain significance 846672 GRCh37: 1:26795512-26795512
GRCh38: 1:26469021-26469021
7 DHDDS NM_205861.3(DHDDS):c.307C>T (p.Arg103Cys) SNV Uncertain significance 848094 GRCh37: 1:26769348-26769348
GRCh38: 1:26442857-26442857
8 DHDDS NM_205861.3(DHDDS):c.919G>C (p.Glu307Gln) SNV Uncertain significance 856987 GRCh37: 1:26795539-26795539
GRCh38: 1:26469048-26469048
9 DHDDS NM_205861.3(DHDDS):c.584A>C (p.Asn195Thr) SNV Uncertain significance 931749 GRCh37: 1:26784323-26784323
GRCh38: 1:26457832-26457832
10 DHDDS NM_205861.3(DHDDS):c.766-4del Deletion Uncertain significance 949627 GRCh37: 1:26795382-26795382
GRCh38: 1:26468891-26468891
11 DHDDS NM_205861.3(DHDDS):c.987C>T (p.Gly329=) SNV Uncertain significance 955955 GRCh37: 1:26795607-26795607
GRCh38: 1:26469116-26469116
12 DHDDS NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser) SNV Uncertain significance 873595 GRCh37: 1:26759489-26759489
GRCh38: 1:26432998-26432998
13 DHDDS NM_205861.3(DHDDS):c.339G>C (p.Lys113Asn) SNV Uncertain significance 965220 GRCh37: 1:26772822-26772822
GRCh38: 1:26446331-26446331
14 DHDDS NM_205861.3(DHDDS):c.962G>A (p.Arg321Gln) SNV Uncertain significance 972226 GRCh37: 1:26795582-26795582
GRCh38: 1:26469091-26469091
15 DHDDS NM_205861.3(DHDDS):c.922G>A (p.Glu308Lys) SNV Uncertain significance 991802 GRCh37: 1:26795542-26795542
GRCh38: 1:26469051-26469051
16 DHDDS NM_205861.3(DHDDS):c.271G>C (p.Asp91His) SNV Uncertain significance 580863 rs773154382 GRCh37: 1:26769312-26769312
GRCh38: 1:26442821-26442821
17 DHDDS NM_205861.3(DHDDS):c.980G>A (p.Arg327His) SNV Uncertain significance 642360 rs780269059 GRCh37: 1:26795600-26795600
GRCh38: 1:26469109-26469109
18 DHDDS NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro) SNV Uncertain significance 645460 rs778103040 GRCh37: 1:26795513-26795513
GRCh38: 1:26469022-26469022
19 DHDDS NM_205861.3(DHDDS):c.491A>G (p.Asn164Ser) SNV Uncertain significance 941487 GRCh37: 1:26774100-26774100
GRCh38: 1:26447609-26447609
20 DHDDS NM_205861.3(DHDDS):c.604A>G (p.Ile202Val) SNV Uncertain significance 970703 GRCh37: 1:26784343-26784343
GRCh38: 1:26457852-26457852
21 DHDDS NM_205861.3(DHDDS):c.299A>G (p.Lys100Arg) SNV Uncertain significance 999520 GRCh37: 1:26769340-26769340
GRCh38: 1:26442849-26442849
22 DHDDS NM_205861.3(DHDDS):c.399G>C (p.Glu133Asp) SNV Uncertain significance 999955 GRCh37: 1:26772882-26772882
GRCh38: 1:26446391-26446391
23 DHDDS NM_205861.3(DHDDS):c.387G>C (p.Leu129Phe) SNV Uncertain significance 1004416 GRCh37: 1:26772870-26772870
GRCh38: 1:26446379-26446379
24 DHDDS NM_205861.3(DHDDS):c.65C>T (p.Ala22Val) SNV Uncertain significance 1005856 GRCh37: 1:26764660-26764660
GRCh38: 1:26438169-26438169
25 DHDDS NM_205861.3(DHDDS):c.20G>A (p.Gly7Glu) SNV Uncertain significance 1006648 GRCh37: 1:26759456-26759456
GRCh38: 1:26432965-26432965
26 DHDDS NM_205861.3(DHDDS):c.848G>A (p.Arg283Gln) SNV Uncertain significance 937489 GRCh37: 1:26795468-26795468
GRCh38: 1:26468977-26468977
27 DHDDS NM_205861.3(DHDDS):c.299A>C (p.Lys100Thr) SNV Uncertain significance 938455 GRCh37: 1:26769340-26769340
GRCh38: 1:26442849-26442849
28 DHDDS NM_205861.3(DHDDS):c.904C>T (p.Leu302Phe) SNV Uncertain significance 962727 GRCh37: 1:26795524-26795524
GRCh38: 1:26469033-26469033
29 DHDDS NM_205861.3(DHDDS):c.817G>A (p.Asp273Asn) SNV Uncertain significance 972205 GRCh37: 1:26795437-26795437
GRCh38: 1:26468946-26468946
30 DHDDS NM_205861.3(DHDDS):c.324-4T>G SNV Uncertain significance 1015013 GRCh37: 1:26772803-26772803
GRCh38: 1:26446312-26446312
31 DHDDS NM_205861.3(DHDDS):c.85A>G (p.Ile29Val) SNV Uncertain significance 1018106 GRCh37: 1:26764680-26764680
GRCh38: 1:26438189-26438189
32 DHDDS NM_205861.3(DHDDS):c.476G>A (p.Arg159His) SNV Uncertain significance 1018485 GRCh37: 1:26774085-26774085
GRCh38: 1:26447594-26447594
33 DHDDS NM_205861.3(DHDDS):c.274G>A (p.Gly92Arg) SNV Uncertain significance 1022103 GRCh37: 1:26769315-26769315
GRCh38: 1:26442824-26442824
34 DHDDS NM_205861.3(DHDDS):c.621T>A (p.Ser207=) SNV Uncertain significance 1036737 GRCh37: 1:26784360-26784360
GRCh38: 1:26457869-26457869
35 DHDDS NM_205861.3(DHDDS):c.308G>A (p.Arg103His) SNV Uncertain significance 1037882 GRCh37: 1:26769349-26769349
GRCh38: 1:26442858-26442858
36 DHDDS NM_205861.3(DHDDS):c.366C>T (p.Gly122=) SNV Uncertain significance 1045926 GRCh37: 1:26772849-26772849
GRCh38: 1:26446358-26446358
37 DHDDS NM_205861.3(DHDDS):c.480T>C (p.His160=) SNV Likely benign 764065 rs758260694 GRCh37: 1:26774089-26774089
GRCh38: 1:26447598-26447598
38 DHDDS NM_205861.3(DHDDS):c.57C>T (p.Ile19=) SNV Likely benign 745841 rs981419090 GRCh37: 1:26759493-26759493
GRCh38: 1:26433002-26433002
39 DHDDS NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln) SNV Likely benign 283914 rs149949619 GRCh37: 1:26764735-26764735
GRCh38: 1:26438244-26438244
40 DHDDS NM_205861.3(DHDDS):c.990T>C (p.Thr330=) SNV Likely benign 297079 rs773902080 GRCh37: 1:26795610-26795610
GRCh38: 1:26469119-26469119
41 DHDDS NM_205861.3(DHDDS):c.940C>T (p.Leu314=) SNV Likely benign 471783 rs1553124038 GRCh37: 1:26795560-26795560
GRCh38: 1:26469069-26469069
42 DHDDS NM_205861.3(DHDDS):c.33T>C (p.Leu11=) SNV Likely benign 539145 rs139193738 GRCh37: 1:26759469-26759469
GRCh38: 1:26432978-26432978
43 DHDDS NM_205861.3(DHDDS):c.720C>T (p.Leu240=) SNV Likely benign 793630 rs1570359391 GRCh37: 1:26786590-26786590
GRCh38: 1:26460099-26460099
44 DHDDS NM_205861.3(DHDDS):c.363G>C (p.Leu121=) SNV Likely benign 797786 rs1570342748 GRCh37: 1:26772846-26772846
GRCh38: 1:26446355-26446355
45 DHDDS NM_205861.3(DHDDS):c.45C>T (p.Phe15=) SNV Likely benign 729267 rs1168720054 GRCh37: 1:26759481-26759481
GRCh38: 1:26432990-26432990
46 DHDDS NM_205861.3(DHDDS):c.519G>A (p.Val173=) SNV Likely benign 748356 rs372941732 GRCh37: 1:26774128-26774128
GRCh38: 1:26447637-26447637
47 DHDDS NM_205861.3(DHDDS):c.210C>T (p.Ile70=) SNV Likely benign 752566 rs1343687682 GRCh37: 1:26769251-26769251
GRCh38: 1:26442760-26442760
48 DHDDS NM_205861.3(DHDDS):c.504G>A (p.Glu168=) SNV Likely benign 752920 rs1251271750 GRCh37: 1:26774113-26774113
GRCh38: 1:26447622-26447622
49 DHDDS NM_205861.3(DHDDS):c.228C>T (p.Tyr76=) SNV Likely benign 763963 rs566029202 GRCh37: 1:26769269-26769269
GRCh38: 1:26442778-26442778
50 DHDDS NM_205861.3(DHDDS):c.873C>T (p.Asp291=) SNV Likely benign 765876 rs759006198 GRCh37: 1:26795493-26795493
GRCh38: 1:26469002-26469002

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

72
# Symbol AA change Variation ID SNP ID
1 DHDDS p.Lys42Glu VAR_065356 rs147394623

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

Sources for Retinitis Pigmentosa 59

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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