ARS
MCID: ALR002
MIFTS: 41

Al-Raqad Syndrome (ARS)

Categories: Genetic diseases

Aliases & Classifications for Al-Raqad Syndrome

MalaCards integrated aliases for Al-Raqad Syndrome:

Name: Al-Raqad Syndrome 57 75 37 29 6 40
Ars 57 75
Ary 76

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
al-raqad syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Al-Raqad Syndrome

UniProtKB/Swiss-Prot : 75 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 eye, skin and bone, and related phenotypes are low-set ears and global developmental delay

Wikipedia : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... 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 6731)
# Related Disease Score Top Affiliating Genes
1 ben ari shuper mimouni syndrome 12.1
2 androgen insensitivity syndrome 11.8
3 familial mediterranean fever 11.6
4 hyper-ige recurrent infection syndrome, autosomal recessive 11.6
5 renal tubular acidosis, distal, with progressive nerve deafness 11.6
6 immunodeficiency 27a 11.5
7 axenfeld-rieger syndrome 11.5
8 polycystic kidney disease 4 with or without polycystic liver disease 11.5
9 myopathy, centronuclear, 2 11.4
10 hypophosphatemic rickets, autosomal recessive, 1 11.4
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 11.2
17 renal tubular acidosis, distal, with hemolytic anemia 11.1
18 alzheimer disease 11.1
19 fatty liver disease 11.0
20 lupus erythematosus 11.0
21 breast cancer 10.9
22 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.9
23 epidermolysis bullosa simplex, autosomal recessive 1 10.9
24 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 10.9
25 mitochondrial dna depletion syndrome 12b , autosomal recessive 10.9
26 epidermolysis bullosa simplex, autosomal recessive 2 10.9
27 autosomal recessive non-syndromic intellectual disability 10.9
28 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.9
29 hypohidrotic ectodermal dysplasia autosomal recessive 10.9
30 schizophrenia 10.9
31 leukemia 10.9
32 ovarian cancer 10.9
33 parkinson disease, late-onset 10.9
34 melanoma 10.9
35 rheumatoid arthritis 10.9
36 depression 10.9
37 cerebral cavernous malformations 10.9
38 migraine with or without aura 1 10.9
39 diabetes mellitus 10.9
40 esophagitis, eosinophilic, 1 10.9
41 lymphoma 10.9
42 multiple sclerosis 10.9
43 epilepsy 10.9
44 amyotrophic lateral sclerosis 1 10.9
45 sickle cell disease 10.9
46 neural tube defects 10.9
47 attention deficit-hyperactivity disorder 10.9
48 premature ovarian failure 1 10.9
49 lung cancer 10.9
50 diarrhea 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
unsteady gait
delayed psychomotor development
poor or absent speech
inability to walk independently

Head And Neck Head:
microcephaly, mild

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:
joint laxity (family a)

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

Muscle Soft Tissue:
hypotonia

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 Hands:
brachydactyly (family a)

Skin Nails Hair Skin:
hypopigmentation (family a)


Clinical features from OMIM:

616459

Human phenotypes related to Al-Raqad Syndrome:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 global developmental delay 32 HP:0001263
3 short nose 32 HP:0003196
4 microcephaly 32 HP:0000252
5 absent speech 32 HP:0001344
6 flat face 32 HP:0012368
7 inability to walk 32 HP:0002540
8 joint laxity 32 HP:0001388
9 deeply set eye 32 HP:0000490
10 narrow mouth 32 HP:0000160
11 brachydactyly 32 HP:0001156
12 sandal gap 32 HP:0001852
13 thin upper lip vermilion 32 HP:0000219
14 generalized hypotonia 32 HP:0001290
15 hypopigmentation of the skin 32 HP:0001010
16 unsteady gait 32 HP:0002317

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 29 DCPS

Anatomical Context for Al-Raqad Syndrome

MalaCards organs/tissues related to Al-Raqad Syndrome:

41
Eye, Skin, Bone, Breast, Heart, Brain, Thyroid

Publications for Al-Raqad Syndrome

Articles related to Al-Raqad Syndrome:

(show top 50) (show all 293)
# Title Authors Year
1
Cardiovascular variability and β-ARs gene expression at two stages of doxorubicin - Induced cardiomyopathy. ( 30342983 )
2019
2
Rescue from lethal acute radiation syndrome (ARS) with severe weight loss by secretome of intramuscularly injected human placental stromal cells. ( 30334381 )
2018
3
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
4
Heuristic analogy in Ars Conjectandi: From Archimedes' De Circuli Dimensione to Bernoulli's theorem. ( 29458946 )
2018
5
Clinical features and therapeutic challenges of cytopenias belonging to alps and alps-related (ARS) phenotype. ( 29527658 )
2018
6
Brazilian Portuguese version of the Anger Rumination Scale (ARS-Brazil). ( 29668822 )
2018
7
Christopher Hitchens' Public Dying: Toward a Secular-Humanist Ars Moriendi? ( 29676687 )
2018
8
PDE4 and mAKAPβ are nodal organizers of β2-ARs nuclear PKA signalling in cardiac myocytes. ( 29733383 )
2018
9
Carbapenem non-susceptibility of Klebsiella pneumoniae isolates in hospitals from 2011 to 2016, data from the German Antimicrobial Resistance Surveillance (ARS). ( 29992016 )
2018
10
Ars comparandi: "molecular convergence" versus "functional homology". ( 30120564 )
2018
11
Analysis of the ars gene cluster from highly arsenic-resistant Burkholderia xenovorans LB400. ( 30203106 )
2018
12
Prenatal caffeine damaged learning and memory in rat offspring mediated by ARs/PKA/CREB/BDNF pathway. ( 30204465 )
2018
13
Generation of ArS- and ArSe-Substituted 4-Quinolone Derivatives Using Sodium Iodide As an Inducer. ( 30260223 )
2018
14
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 )
2018
15
USDA-ARS Colorado maize growth and development, yield and water-use under strategic timing of irrigation, 2012-2013. ( 30456237 )
2018
16
Morphological and functional impairment in the gut in a partial body irradiation minipig model of GI-ARS. ( 30475652 )
2018
17
Neulasta regimen for the hematopoietic ARS: effects beyond neutrophil recovery. ( 30496878 )
2018
18
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
19
The hemostatic effect study of Cirsium setosum on regulating α1-ARs via mediating norepinephrine synthesis by enzyme catalysis. ( 28088737 )
2017
20
A scientific theory of Ars Memoriae: Spatial view cells in a continuous attractor network with linked items. ( 28176397 )
2017
21
Comparative Genomic Analysis Reveals Organization, Function and Evolution of ars Genes in Pantoea spp. ( 28377759 )
2017
22
Identification and characterization of ARS-like sequences as putative origin(s) of replication in human malaria parasite Plasmodium falciparum. ( 28644560 )
2017
23
Synergy between Prkdc and Trp53 regulates stem cell proliferation and GI-ARS after irradiation. ( 28686579 )
2017
24
Research on Somatization and Somatic Symptom Disorders: Ars longa, vita brevis. ( 28976443 )
2017
25
Correction to: Antioxid Redox Signal 2017; 27(7): 379-397. DOI: 10.1089/ars.2016.6642. ( 29072930 )
2017
26
Whole-Genome Sequence of Escherichia coli Serotype O157:H7 Strain B6914-ARS. ( 29097463 )
2017
27
Ars Moriendi: Coping with death in the Late Middle Ages. ( 26669966 )
2016
28
Taxonomic evaluation of putative Streptomyces scabiei strains held in the ARS Culture Collection (NRRL) using multi-locus sequence analysis. ( 26739474 )
2016
29
Cardiopulmonary Exercise Testing in Systemic Sclerosis: 'Ars longa, vita brevis'. ( 26845222 )
2016
30
Ars-legendi-Fakultätenpreis: R. Göttlich, N. Graulich, S. Schindler / Preis der Berlin-Brandenburgischen Akademie der Wissenschaften: D. Rauh. ( 27098104 )
2016
31
A Modern Ars Moriendi. ( 27248618 )
2016
32
Context based computational analysis and characterization of ARS consensus sequences (ACS) of Saccharomyces cerevisiae genome. ( 27508123 )
2016
33
Accurate Attitude Estimation Using ARS under Conditions of Vehicle Movement Based on Disturbance Acceleration Adaptive Estimation and Correction. ( 27754469 )
2016
34
ARS-Media for Excel: A Spreadsheet Tool for Calculating Media Recipes Based on Ion-Specific Constraints. ( 27812202 )
2016
35
The Academic Resilience Scale (ARS-30): A New Multidimensional Construct Measure. ( 27917137 )
2016
36
Arsenic resistance strategy in Pantoea sp. IMH: Organization, function and evolution of ars genes. ( 27966630 )
2016
37
Transfusion practice in cardiac surgery: ars longa, vita brevis, iudicium difficile (the art is long, life is short, and decision difficult). ( 25312224 )
2015
38
Daily isoflurane exposure increases barbiturate insensitivity in medullary respiratory and cortical neurons via expression of ε-subunit containing GABA ARs. ( 25748028 )
2015
39
Closed-loop ARS mode for scanning ion conductance microscopy with improved speed and stability for live cell imaging applications. ( 25959131 )
2015
40
The Ars Moriendi Model for Spiritual Assessment: A Mixed-Methods Evaluation. ( 26148311 )
2015
41
Expression of ARs in triple negative breast cancer tumors: a potential prognostic factor? ( 26229492 )
2015
42
The Effect of Radiation Dose and Variation in Neupogen® Initiation Schedule on the Mitigation of Myelosuppression during the Concomitant GI-ARS and H-ARS in a Nonhuman Primate Model of High-dose Exposure with Marrow Sparing. ( 26425903 )
2015
43
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
44
Chromosomal context and replication properties of ARS plasmids in Schizosaccharomyces pombe. ( 26648030 )
2015
45
Accelerated hematopoietic syndrome after radiation doses bridging hematopoietic (H-ARS) and gastrointestinal (GI-ARS) acute radiation syndrome: early hematological changes and systemic inflammatory response syndrome in minipig. ( 24524283 )
2014
46
Survival efficacy of the PEGylated G-CSFs Maxy-G34 and neulasta in a mouse model of lethal H-ARS, and residual bone marrow damage in treated survivors. ( 24276547 )
2014
47
Ars Moriendi; the art of dying well - new insights into the molecular pathways of necroptotic cell death. ( 24469330 )
2014
48
Acute rhinosinusitis (ARS). Diagnosis and treatment of adults in general practice. ( 24495896 )
2014
49
Improvement of Vergence Movements by Vision Therapy Decreases K-ARS Scores of Symptomatic ADHD Children. ( 24648636 )
2014
50
Affirming Life in the Face of Death: Ricoeur's Living Up to Death as a modern ars moriendi and a lesson for palliative care. ( 25273333 )
2014

Variations for Al-Raqad Syndrome

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

75
# 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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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