ARS
MCID: ALR002
MIFTS: 40

Al-Raqad Syndrome (ARS)

Categories: Genetic diseases

Aliases & Classifications for Al-Raqad Syndrome

MalaCards integrated aliases for Al-Raqad Syndrome:

Name: Al-Raqad Syndrome 58 76 38 30 6 41
Ars 58 76
Ary 77

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two unrelated consanguineous families have been reported (last curated july 2015)


HPO:

33
al-raqad syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Al-Raqad Syndrome

UniProtKB/Swiss-Prot : 76 Al-Raqad syndrome: A syndrome characterized by delayed psychomotor development, moderate to severe intellectual disability, poor or absent speech, microcephaly, congenital hypotonia, and severe growth delay.

MalaCards based summary : Al-Raqad Syndrome, also known as ars, is related to ben ari shuper mimouni syndrome and androgen insensitivity syndrome. An important gene associated with Al-Raqad Syndrome is DCPS (Decapping Enzyme, Scavenger), and among its related pathways/superpathways is RNA degradation. Affiliated tissues include bone, breast and heart, and related phenotypes are low-set ears and global developmental delay

Wikipedia : 77 The Crawford expedition was a campaign on the western front of the American Revolutionary War, and one... more...

Description from OMIM: 616459

Related Diseases for Al-Raqad Syndrome

Diseases related to Al-Raqad Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 7207)
# Related Disease Score Top Affiliating Genes
1 ben ari shuper mimouni syndrome 12.2
2 androgen insensitivity syndrome 11.8
3 familial mediterranean fever 11.7
4 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.6
5 renal tubular acidosis, distal, with progressive nerve deafness 11.6
6 immunodeficiency 27a 11.5
7 polycystic kidney disease 4 with or without polycystic liver disease 11.5
8 axenfeld-rieger syndrome 11.5
9 myopathy, centronuclear, 2 11.5
10 hypophosphatemic rickets, autosomal recessive, 1 11.5
11 oculodentodigital dysplasia, autosomal recessive 11.3
12 epidermolysis bullosa, nonspecific, autosomal recessive 11.3
13 ectopia pupillae 11.3
14 epidermolysis bullosa dystrophica, autosomal recessive 11.3
15 prostate cancer 11.3
16 corpus callosum agenesis double urinary collecting 11.3
17 renal tubular acidosis, distal, with hemolytic anemia 11.1
18 alzheimer disease 11.1
19 breast cancer 11.0
20 fatty liver disease 11.0
21 lupus erythematosus 11.0
22 leukemia 11.0
23 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 11.0
24 epidermolysis bullosa simplex, autosomal recessive 1 11.0
25 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 11.0
26 mitochondrial dna depletion syndrome 12b , autosomal recessive 11.0
27 epidermolysis bullosa simplex, autosomal recessive 2 11.0
28 autosomal recessive non-syndromic intellectual disability 11.0
29 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 11.0
30 hypohidrotic ectodermal dysplasia autosomal recessive 11.0
31 parkinson disease, late-onset 11.0
32 ovarian cancer 11.0
33 schizophrenia 11.0
34 migraine with or without aura 1 11.0
35 diabetes mellitus, noninsulin-dependent 11.0
36 vascular disease 11.0
37 melanoma 11.0
38 rheumatoid arthritis 11.0
39 depression 11.0
40 lymphoma 10.9
41 stroke, ischemic 10.9
42 cerebral cavernous malformations 10.9
43 epilepsy 10.9
44 esophagitis, eosinophilic, 1 10.9
45 multiple sclerosis 10.9
46 amyotrophic lateral sclerosis 1 10.9
47 endometriosis 10.9
48 diarrhea 10.9
49 sickle cell disease 10.9
50 diabetes mellitus 10.9

Graphical network of the top 20 diseases related to Al-Raqad Syndrome:



Diseases related to Al-Raqad Syndrome

Symptoms & Phenotypes for Al-Raqad Syndrome

Human phenotypes related to Al-Raqad Syndrome:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 global developmental delay 33 HP:0001263
3 short nose 33 HP:0003196
4 microcephaly 33 HP:0000252
5 absent speech 33 HP:0001344
6 flat face 33 HP:0012368
7 inability to walk 33 HP:0002540
8 joint laxity 33 HP:0001388
9 deeply set eye 33 HP:0000490
10 narrow mouth 33 HP:0000160
11 brachydactyly 33 HP:0001156
12 sandal gap 33 HP:0001852
13 thin upper lip vermilion 33 HP:0000219
14 generalized hypotonia 33 HP:0001290
15 hypopigmentation of the skin 33 HP:0001010
16 unsteady gait 33 HP:0002317

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
unsteady gait
delayed psychomotor development
poor or absent speech
inability to walk independently

Head And Neck Head:
microcephaly, mild

Growth Other:
poor overall growth (family a)

Head And Neck Ears:
low-set ears (family a)
simple helices (family a)

Head And Neck Nose:
small nose (family a)

Cardiovascular Heart:
atrial septal defects (family a)

Skeletal Feet:
brachydactyly (family a)
sandal gap (family a)

Muscle Soft Tissue:
hypotonia

Skeletal:
joint laxity (family a)

Head And Neck Face:
flat face (family a)

Head And Neck Eyes:
deep-set eyes (family a)

Head And Neck Mouth:
small mouth (family a)
thin upper lip (family a)

Skeletal Hands:
brachydactyly (family a)

Skin Nails Hair Skin:
hypopigmentation (family a)

Clinical features from OMIM:

616459

Drugs & Therapeutics for Al-Raqad Syndrome

Search Clinical Trials , NIH Clinical Center for Al-Raqad Syndrome

Genetic Tests for Al-Raqad Syndrome

Genetic tests related to Al-Raqad Syndrome:

# Genetic test Affiliating Genes
1 Al-Raqad Syndrome 30 DCPS

Anatomical Context for Al-Raqad Syndrome

MalaCards organs/tissues related to Al-Raqad Syndrome:

42
Bone, Breast, Heart, Skin, Brain, Kidney, Thyroid

Publications for Al-Raqad Syndrome

Articles related to Al-Raqad Syndrome:

(show top 50) (show all 340)
# Title Authors Year
1
Cardiovascular variability and β-ARs gene expression at two stages of doxorubicin - Induced cardiomyopathy. ( 30342983 )
2019
2
Clinical features and therapeutic challenges of cytopenias belonging to alps and alps-related (ARS) phenotype. ( 29527658 )
2019
3
Efficacy of Neulasta or Neupogen on H-ARS and GI-ARS Mortality and Hematopoietic Recovery in Nonhuman Primates After 10-Gy Irradiation With 2.5% Bone Marrow Sparing. ( 30281533 )
2019
4
Correction to: Suppression of Lipogenesis via Reactive Oxygen Species-AMPK Signaling for Treating Malignant and Proliferative Disease, by Fan XX, Leung ELH, Xie Y, Liu ZQ, Zheng YF, Yao ZJ, Lu LL, Wu JL, He JX, Yuan ZW, Fu J, Wei CL, Huang J, Xiao DK, Luo LX, Jiang ZB, Zhou YL, Kam RKT, and Liu L. Antioxid Redox Signal 28: 339-357, 2018. DOI: 10.1089/ars.2017.7090. ( 30605373 )
2019
5
ARS, Deare, and Multiple-Organ Injury: A Strategic and Tactical Approach to Link Radiation Effects, Animal Models, Medical Countermeasures, and Biomarker Development to Predict Clinical Outcome. ( 30608246 )
2019
6
Selective Photocatalysis Approach for Introducing ArS Units into BODIPYs through Thiyl Radicals. ( 30673254 )
2019
7
Short communication: Identification of the pseudoautosomal region in the Hereford bovine reference genome assembly ARS-UCD1.2. ( 30712931 )
2019
8
ARS, DEARE, and Multiple-organ Injury: A Strategic and Tactical Approach to Link Radiation Effects, Animal Models, Medical Countermeasures, and Biomarker Development to Predict Clinical Outcome. ( 30789495 )
2019
9
Non-Destructive Determination of Alkylresorcinol (ARs) Content on Wheat Seed Surfaces and Prediction of ARs Content in Whole-Grain Flour. ( 30987319 )
2019
10
Lifelong Residual bone Marrow Damage in Murine Survivors of the Hematopoietic Acute Radiation Syndrome (H-ARS): A Compilation of Studies Comprising the Indiana University Experience. ( 30789496 )
2019
11
Retraction of: Redox-Sensing Iron-Sulfur Cluster Regulators, by Crack JC, Le Brun NE. Antioxid Redox Signal [Epub ahead of print]; DOI: 10.1089/ars.2017.7369, 2017. ( 29431469 )
2018
12
Heuristic analogy in Ars Conjectandi: From Archimedes' De Circuli Dimensione to Bernoulli's theorem. ( 29458946 )
2018
13
Brazilian Portuguese version of the Anger Rumination Scale (ARS-Brazil). ( 29668822 )
2018
14
Christopher Hitchens' Public Dying: Toward a Secular-Humanist Ars Moriendi? ( 29676687 )
2018
15
PDE4 and mAKAPβ are nodal organizers of β2-ARs nuclear PKA signalling in cardiac myocytes. ( 29733383 )
2018
16
Carbapenem non-susceptibility of Klebsiella pneumoniae isolates in hospitals from 2011 to 2016, data from the German Antimicrobial Resistance Surveillance (ARS). ( 29992016 )
2018
17
Ars comparandi: "molecular convergence" versus "functional homology". ( 30120564 )
2018
18
Analysis of the ars gene cluster from highly arsenic-resistant Burkholderia xenovorans LB400. ( 30203106 )
2018
19
Prenatal caffeine damaged learning and memory in rat offspring mediated by ARs/PKA/CREB/BDNF pathway. ( 30204465 )
2018
20
Generation of ArS- and ArSe-Substituted 4-Quinolone Derivatives Using Sodium Iodide As an Inducer. ( 30260223 )
2018
21
USDA-ARS Colorado maize growth and development, yield and water-use under strategic timing of irrigation, 2012-2013. ( 30456237 )
2018
22
Morphological and functional impairment in the gut in a partial body irradiation minipig model of GI-ARS. ( 30475652 )
2018
23
Rescue from lethal acute radiation syndrome (ARS) with severe weight loss by secretome of intramuscularly injected human placental stromal cells. ( 30334381 )
2018
24
A case of anti-aminoacyl tRNA synthetase (ARS) antibody-positive polymyositis (PM)/dermatomyositis (DM)-associated interstitial pneumonia (IP) successfully controlled with bosentan therapy. ( 28393009 )
2017
25
Identification and characterization of ARS-like sequences as putative origin(s) of replication in human malaria parasite Plasmodium falciparum. ( 28644560 )
2017
26
Synergy between Prkdc and Trp53 regulates stem cell proliferation and GI-ARS after irradiation. ( 28686579 )
2017
27
Research on Somatization and Somatic Symptom Disorders: Ars longa, vita brevis. ( 28976443 )
2017
28
Correction to: Antioxid Redox Signal 2017; 27(7): 379-397. DOI: 10.1089/ars.2016.6642. ( 29072930 )
2017
29
Whole-Genome Sequence of Escherichia coli Serotype O157:H7 Strain B6914-ARS. ( 29097463 )
2017
30
Vit D deficiency is a possible risk factor in ARS. ( 28608241 )
2017
31
Comparative Genomic Analysis Reveals Organization, Function and Evolution of ars Genes in Pantoea spp. ( 28377759 )
2017
32
A scientific theory of Ars Memoriae: Spatial view cells in a continuous attractor network with linked items. ( 28176397 )
2017
33
The hemostatic effect study of Cirsium setosum on regulating α1-ARs via mediating norepinephrine synthesis by enzyme catalysis. ( 28088737 )
2017
34
Arsenic resistance strategy in Pantoea sp. IMH: Organization, function and evolution of ars genes. ( 27966630 )
2016
35
The Academic Resilience Scale (ARS-30): A New Multidimensional Construct Measure. ( 27917137 )
2016
36
ARS-Media for Excel: A Spreadsheet Tool for Calculating Media Recipes Based on Ion-Specific Constraints. ( 27812202 )
2016
37
Accurate Attitude Estimation Using ARS under Conditions of Vehicle Movement Based on Disturbance Acceleration Adaptive Estimation and Correction. ( 27754469 )
2016
38
Context based computational analysis and characterization of ARS consensus sequences (ACS) of Saccharomyces cerevisiae genome. ( 27508123 )
2016
39
MODELING H-ARS USING HEMATOLOGICAL PARAMETERS: A COMPARISON BETWEEN THE NON-HUMAN PRIMATE AND MINIPIG. ( 27466458 )
2016
40
A Modern Ars Moriendi. ( 27248618 )
2016
41
Ars-legendi-Fakultätenpreis: R. Göttlich, N. Graulich, S. Schindler / Preis der Berlin-Brandenburgischen Akademie der Wissenschaften: D. Rauh. ( 27098104 )
2016
42
Functional analysis of ars gene cluster of Pannonibacter indicus strain HT23(T) (DSM 23407(T)) and identification of a proline residue essential for arsenate reductase activity. ( 26915994 )
2016
43
Taxonomic evaluation of putative Streptomyces scabiei strains held in the ARS Culture Collection (NRRL) using multi-locus sequence analysis. ( 26739474 )
2016
44
Ars Moriendi: Coping with death in the Late Middle Ages. ( 26669966 )
2016
45
Cardiopulmonary Exercise Testing in Systemic Sclerosis: 'Ars longa, vita brevis'. ( 26845222 )
2016
46
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. ( 25712129 )
2015
47
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. ( 25701870 )
2015
48
Chromosomal context and replication properties of ARS plasmids in Schizosaccharomyces pombe. ( 26648030 )
2015
49
Delayed Effects of Acute Radiation Exposure in a Murine Model of the H-ARS: Multiple-Organ Injury Consequent to <10 Gy Total Body Irradiation. ( 26425910 )
2015
50
An Interlaboratory Validation of the Radiation Dose Response Relationship (DRR) for H-ARS in the Rhesus Macaque. ( 26425909 )
2015

Variations for Al-Raqad Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Al-Raqad Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 DCPS p.Thr316Met VAR_073956 rs137941190

ClinVar genetic disease variations for Al-Raqad Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DCPS NM_001350236.1(DCPS): c.203T> C (p.Val68Ala) single nucleotide variant Pathogenic rs1057519083 GRCh38 Chromosome 11, 126304283: 126304283
2 DCPS NM_001350236.1(DCPS): c.203T> C (p.Val68Ala) single nucleotide variant Pathogenic rs1057519083 GRCh37 Chromosome 11, 126174178: 126174178
3 DCPS NM_014026.5(DCPS): c.636+1G> A single nucleotide variant Pathogenic rs770528538 GRCh37 Chromosome 11, 126208295: 126208295
4 DCPS NM_014026.5(DCPS): c.636+1G> A single nucleotide variant Pathogenic rs770528538 GRCh38 Chromosome 11, 126338400: 126338400
5 DCPS NM_014026.5(DCPS): c.947C> T (p.Thr316Met) single nucleotide variant Pathogenic rs137941190 GRCh38 Chromosome 11, 126345546: 126345546
6 DCPS NM_014026.5(DCPS): c.947C> T (p.Thr316Met) single nucleotide variant Pathogenic rs137941190 GRCh37 Chromosome 11, 126215441: 126215441

Expression for Al-Raqad Syndrome

Search GEO for disease gene expression data for Al-Raqad Syndrome.

Pathways for Al-Raqad Syndrome

Pathways related to Al-Raqad Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 RNA degradation hsa03018

GO Terms for Al-Raqad Syndrome

Sources for Al-Raqad Syndrome

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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