RDMS
MCID: RTN212
MIFTS: 31

Retinal Dystrophy with or Without Macular Staphyloma (RDMS)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Retinal Dystrophy with or Without Macular Staphyloma

MalaCards integrated aliases for Retinal Dystrophy with or Without Macular Staphyloma:

Name: Retinal Dystrophy with or Without Macular Staphyloma 57 72 29 6
Rdms 57 72
Dystrophy, Retinal, with Macular Staphyloma 39
Retinal Dystrophy with Macular Staphyloma 57

Characteristics:

OMIM®:

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


HPO:

31
retinal dystrophy with or without macular staphyloma:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617547
MeSH 44 D058499

Summaries for Retinal Dystrophy with or Without Macular Staphyloma

UniProtKB/Swiss-Prot : 72 Retinal dystrophy with or without macular staphyloma: An ocular disorder characterized by decreased vision which worsen over time, and dystrophic changes in the retina, such as retinal pigment epithelium mottling and vessel narrowing. Macular staphyloma, without high myopia, is present in some patients.

MalaCards based summary : Retinal Dystrophy with or Without Macular Staphyloma, also known as rdms, is related to myopia and fundus dystrophy. An important gene associated with Retinal Dystrophy with or Without Macular Staphyloma is CFAP410 (Cilia And Flagella Associated Protein 410). The drugs Dihydroartemisinin and Piperaquine have been mentioned in the context of this disorder. Affiliated tissues include retina, skin and eye, and related phenotypes are photophobia and nyctalopia

More information from OMIM: 617547

Related Diseases for Retinal Dystrophy with or Without Macular Staphyloma

Diseases related to Retinal Dystrophy with or Without Macular Staphyloma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopia 10.2
2 fundus dystrophy 10.2
3 retinal ciliopathy 10.2
4 ciliopathy 10.2
5 inherited retinal disorder 10.2
6 cholecystitis 10.0

Graphical network of the top 20 diseases related to Retinal Dystrophy with or Without Macular Staphyloma:



Diseases related to Retinal Dystrophy with or Without Macular Staphyloma

Symptoms & Phenotypes for Retinal Dystrophy with or Without Macular Staphyloma

Human phenotypes related to Retinal Dystrophy with or Without Macular Staphyloma:

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 nyctalopia 31 HP:0000662
3 retinal dystrophy 31 HP:0000556
4 central scotoma 31 HP:0000603
5 nuclear cataract 31 HP:0100018

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
retinal dystrophy
reduced vision
attenuation of retinal vessels
mottling of retinal pigment epithelium
night blindness (in 1 patient)
more

Clinical features from OMIM®:

617547 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinal Dystrophy with or Without Macular Staphyloma

Drugs for Retinal Dystrophy with or Without Macular Staphyloma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dihydroartemisinin Approved, Experimental, Investigational 71939-50-9 6918483
2
Piperaquine Approved, Experimental, Investigational 4085-31-8 5079497
3
Mefloquine Approved, Investigational 53230-10-7 4046
4
Artesunate Approved, Investigational 88495-63-0 5464098 6917864
5 Antimalarials
6 Antiparasitic Agents
7 Antiprotozoal Agents
8 Antiviral Agents
9 Anthelmintics
10 Anti-Infective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Open-label Trial of Comparison Between DHA-Piperaquine and Mefloquine Artesunate Combinations 3 Day-regimens for the Treatment of Uncomplicated Plasmodium Falciparum Malaria on the Thai-Myanmar Border (RDM) Completed NCT01640587 Mefloquine+Artesunate;Dihydroartemisinin-Piperaquine
2 Evaluation of the Patient Skin Dose in Interventional Radiology Recruiting NCT04246125
3 Serial Third Trimester Abdominal Circumference and Amniotic Fluid Measurements Versus Routine Care: A Randomized Controlled Trial (STAR Trial) Suspended NCT03857659

Search NIH Clinical Center for Retinal Dystrophy with or Without Macular Staphyloma

Genetic Tests for Retinal Dystrophy with or Without Macular Staphyloma

Genetic tests related to Retinal Dystrophy with or Without Macular Staphyloma:

# Genetic test Affiliating Genes
1 Retinal Dystrophy with or Without Macular Staphyloma 29 CFAP410

Anatomical Context for Retinal Dystrophy with or Without Macular Staphyloma

MalaCards organs/tissues related to Retinal Dystrophy with or Without Macular Staphyloma:

40
Retina, Skin, Eye, Brain, Thyroid, T Cells

Publications for Retinal Dystrophy with or Without Macular Staphyloma

Articles related to Retinal Dystrophy with or Without Macular Staphyloma:

(show top 50) (show all 114)
# Title Authors PMID Year
1
Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy. 57 6
27548899 2016
2
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. 57 6
26294103 2015
3
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 57
26992781 2016
4
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 57
26167768 2015
5
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 57
23105016 2013
6
Insights into one-body density matrices using deep learning. 61
32936199 2020
7
Reduced Density Matrix Cumulants: The Combinatorics of Size-Consistency and Generalized Normal Ordering. 61
32866012 2020
8
Stimulus Parameters Underlying Sound-Symbolic Mapping of Auditory Pseudowords to Visual Shapes. 61
32909637 2020
9
Clinical evaluation of a dose management system-integrated 3D skin dose map by comparison with radiochromic films. 61
32333144 2020
10
Size-extensive seniority-zero energy functionals derived from configuration interaction with double excitations. 61
32610951 2020
11
Familiarity Detection and Memory Consolidation in Cortical Assemblies. 61
32122957 2020
12
Spatio-temporal dynamics of face perception. 61
31931156 2020
13
Introduction to the LIVECAT web-based computerized adaptive testing platform. 61
33401349 2020
14
Understanding variability in optimum plant density and recommendation domains for crowding stress tolerant processing sweet corn. 61
32032371 2020
15
NeuroRA: A Python Toolbox of Representational Analysis From Multi-Modal Neural Data. 61
33424573 2020
16
Multireference configuration interaction and perturbation theory without reduced density matrices. 61
31822084 2019
17
Efficient evaluation of AGP reduced density matrices. 61
31731861 2019
18
Experimental evaluation of a radiation dose management system-integrated 3D skin dose map by comparison with XR-RV3 Gafchromic® films. 61
31563728 2019
19
Variational reduced density matrix method in the doubly-occupied configuration interaction space using four-particle N-representability conditions: Application to the XXZ model of quantum magnetism. 61
31640387 2019
20
Thiol-based redox sensing in the methyltransferase associated sensor kinase RdmS in Methanosarcina acetivorans. 61
30680878 2019
21
Sparse non-orthogonal wave function expansions from the extension of the generalized Pauli constraints to the two-electron reduced density matrix. 61
30981248 2019
22
A Temporal Neural Trace of Wavelet Coefficients in Human Object Vision: An MEG Study. 61
31001091 2019
23
Multiple Simultaneous Rare Distant Metastases as the Initial Presentation of Papillary Thyroid Carcinoma: A Case Report. 61
31781034 2019
24
Modeling core-level excitations with variationally optimized reduced-density matrices and the extended random phase approximation. 61
30579305 2018
25
GLMdenoise improves multivariate pattern analysis of fMRI data. 61
30170148 2018
26
Variational reduced density matrix method in the doubly occupied configuration interaction space using three-particle N-representability conditions. 61
30466273 2018
27
Excited-State Spectra of Strongly Correlated Molecules from a Reduced-Density-Matrix Approach. 61
30183311 2018
28
Externally-Contracted Multireference Configuration Interaction Method Using a DMRG Reference Wave Function. 61
30052433 2018
29
Spatial and Spin Symmetry Breaking in Semidefinite-Programming-Based Hartree-Fock Theory. 61
29595979 2018
30
Semantic representation in the white matter pathway. 61
29624578 2018
31
Targeted microbubbles with ultrasound irradiation and PD-1 inhibitor to increase antitumor activity in B-cell lymphoma. 61
29338562 2018
32
Method for making 2-electron response reduced density matrices approximately N-representable. 61
29495792 2018
33
Sparsity of the wavefunction from the generalized Pauli exclusion principle. 61
29421880 2018
34
Environmental Context Influences Visual Attention to Responsible Drinking Messages. 61
29040357 2018
35
The Science of Absent Evidence: Is There Such Thing as an Effective Responsible Drinking Message? 61
29036283 2018
36
Abstract Representations of Emotions Perceived From the Face, Body, and Whole-Person Expressions in the Left Postcentral Gyrus. 61
30405375 2018
37
Effect of Health Messages on Alcohol Attitudes and Intentions in a Sample of 16-17-Year-Old Underage Drinkers. 61
28981477 2017
38
Multistate Complete-Active-Space Second-Order Perturbation Theory Based on Density Matrix Renormalization Group Reference States. 61
28881132 2017
39
Upconversion Nanoprobes for the Ratiometric Luminescent Sensing of Nitric Oxide. 61
28844137 2017
40
Quantifying fermionic decoherence in many-body systems. 61
28595395 2017
41
Density matrices in full configuration interaction quantum Monte Carlo: Excited states, transition dipole moments, and parallel distribution. 61
28668027 2017
42
Epidemiology of parainfluenza infection in England and Wales, 1998-2013: any evidence of change? 61
28095926 2017
43
Avoiding illusory effects in representational similarity analysis: What (not) to do with the diagonal. 61
28069538 2017
44
Combining Internally Contracted States and Matrix Product States To Perform Multireference Perturbation Theory. 61
28060507 2017
45
Rice SNP-seek database update: new SNPs, indels, and queries. 61
27899667 2017
46
Quantum State Tomography via Reduced Density Matrices. 61
28128623 2017
47
Rituximab-conjugated, doxorubicin-loaded microbubbles as a theranostic modality in B-cell lymphoma. 61
27902473 2017
48
Variational optimization of the two-electron reduced-density matrix under pure-state N-representability conditions. 61
27802640 2016
49
Inferring brain-computational mechanisms with models of activity measurements. 61
27574316 2016
50
Arginine demethylation is catalysed by a subset of JmjC histone lysine demethylases. 61
27337104 2016

Variations for Retinal Dystrophy with or Without Macular Staphyloma

ClinVar genetic disease variations for Retinal Dystrophy with or Without Macular Staphyloma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFAP410 NM_004928.3(CFAP410):c.320A>G (p.Tyr107Cys) SNV Pathogenic 428583 rs1131690801 GRCh37: 21:45752969-45752969
GRCh38: 21:44333086-44333086
2 CFAP410 NM_004928.3(CFAP410):c.436_466del (p.Glu146fs) Deletion Pathogenic 428576 rs746633371 GRCh37: 21:45751805-45751835
GRCh38: 21:44331922-44331952
3 CFAP410 NM_004928.3(CFAP410):c.182G>A (p.Cys61Tyr) SNV Pathogenic 373480 rs1057518441 GRCh37: 21:45753107-45753107
GRCh38: 21:44333224-44333224
4 CFAP410 NM_004928.3(CFAP410):c.380C>T (p.Thr127Met) SNV Uncertain significance 1029273 GRCh37: 21:45751891-45751891
GRCh38: 21:44332008-44332008
5 CFAP410 NM_004928.3(CFAP410):c.642+172_642+175del Deletion Uncertain significance 1032721 GRCh37: 21:45750531-45750534
GRCh38: 21:44330648-44330651

UniProtKB/Swiss-Prot genetic disease variations for Retinal Dystrophy with or Without Macular Staphyloma:

72
# Symbol AA change Variation ID SNP ID
1 CFAP410 p.Cys61Tyr VAR_079180 rs105751844
2 CFAP410 p.Tyr107Cys VAR_079181 rs113169080

Expression for Retinal Dystrophy with or Without Macular Staphyloma

Search GEO for disease gene expression data for Retinal Dystrophy with or Without Macular Staphyloma.

Pathways for Retinal Dystrophy with or Without Macular Staphyloma

GO Terms for Retinal Dystrophy with or Without Macular Staphyloma

Sources for Retinal Dystrophy with or Without Macular Staphyloma

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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