ARS
MCID: ALR002
MIFTS: 29

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 72 36 29 6 39
Ars 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
al-raqad syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Al-Raqad Syndrome

KEGG : 36 Al-Raqad syndrome (ARS) is a novel clinical entity, and is an autosomal recessive disorder with anomalies in multiple organs. Its most salient phenotypes comprise severe growth delay, neurological defects, cognitive impairment, skeletal and cardiac anomalies. Its genetic etiology can be attributed to homozygous loss-of-function alleles in the DCPS gene. The DCPS protein is the scavenger mRNA decapping enzyme which functions in the last step of the 3' end mRNA decay pathway.

MalaCards based summary : Al-Raqad Syndrome, also known as ars, is related to acute radiation syndrome and axenfeld-rieger 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 and lung, and related phenotypes are global developmental delay and short nose

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Al-Raqad syndrome is a congenital autosomal recessive syndrome discovered by Jordanian physician... more...

More information 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 58)
# Related Disease Score Top Affiliating Genes
1 acute radiation syndrome 11.2
2 axenfeld-rieger syndrome 11.0
3 mal de meleda 10.3
4 alacrima, achalasia, and mental retardation syndrome 10.1
5 neutropenia 10.1
6 palmoplantar keratosis 10.1
7 polymyositis 10.0
8 dermatomyositis 10.0
9 rapidly involuting congenital hemangioma 9.9
10 endocarditis 9.9
11 diarrhea 9.9
12 interstitial lung disease 9.9
13 pneumonia 9.9
14 lung disease 9.9
15 ainhum 9.8
16 atrial standstill 1 9.8
17 bladder cancer 9.8
18 cleft palate, isolated 9.8
19 esophageal cancer 9.8
20 myositis 9.8
21 scleroderma, familial progressive 9.8
22 triiodothyronine receptor auxiliary protein 9.8
23 metachromatic leukodystrophy 9.8
24 3-methylglutaconic aciduria, type iii 9.8
25 multiple sulfatase deficiency 9.8
26 arts syndrome 9.8
27 aging 9.8
28 stroke, ischemic 9.8
29 autoimmune lymphoproliferative syndrome 9.8
30 endometrial cancer 9.8
31 malaria 9.8
32 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.8
33 helix syndrome 9.8
34 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.8
35 pulmonary hypertension 9.8
36 brachydactyly 9.8
37 leukodystrophy 9.8
38 rickets 9.8
39 pertussis 9.8
40 respiratory failure 9.8
41 pancytopenia 9.8
42 keratosis 9.8
43 acute maxillary sinusitis 9.8
44 maxillary sinusitis 9.8
45 cellulitis 9.8
46 secondary syphilis 9.8
47 syphilis 9.8
48 hepatitis e 9.8
49 severe combined immunodeficiency 9.8
50 osteoarthritis 9.8

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 short nose 31 HP:0003196
3 microcephaly 31 HP:0000252
4 absent speech 31 HP:0001344
5 flat face 31 HP:0012368
6 low-set ears 31 HP:0000369
7 joint laxity 31 HP:0001388
8 narrow mouth 31 HP:0000160
9 brachydactyly 31 HP:0001156
10 sandal gap 31 HP:0001852
11 thin upper lip vermilion 31 HP:0000219
12 deeply set eye 31 HP:0000490
13 hypopigmentation of the skin 31 HP:0001010
14 generalized hypotonia 31 HP:0001290
15 unsteady gait 31 HP:0002317
16 inability to walk 31 HP:0002540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Eye, Lung

Publications for Al-Raqad Syndrome

Articles related to Al-Raqad Syndrome:

# Title Authors PMID Year
1
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome. 61 6 57
30289615 2018
2
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. 6 57
25701870 2015
3
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. 6 57
25712129 2015
4
Leukoencephalopathy in Al-Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS. 61
32770650 2020

Variations for Al-Raqad Syndrome

ClinVar genetic disease variations for Al-Raqad Syndrome:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCPS NM_014026.6(DCPS):c.201+2T>C SNV Pathogenic 372233 rs1057519083 GRCh37: 11:126174178-126174178
GRCh38: 11:126304283-126304283
2 DCPS NM_014026.6(DCPS):c.636+1G>A SNV Pathogenic 372234 rs770528538 GRCh37: 11:126208295-126208295
GRCh38: 11:126338400-126338400
3 DCPS NM_014026.6(DCPS):c.260C>T (p.Thr87Met) SNV Pathogenic 638276 rs138737928 GRCh37: 11:126176523-126176523
GRCh38: 11:126306628-126306628
4 GSEC , DCPS NM_014026.6(DCPS):c.946_949dup (p.Leu317fs) Duplication Pathogenic 1033252 GRCh37: 11:126215436-126215437
GRCh38: 11:126345541-126345542
5 GSEC , DCPS NM_014026.6(DCPS):c.981dup (p.Leu328fs) Duplication Pathogenic 1033253 GRCh37: 11:126215474-126215475
GRCh38: 11:126345579-126345580
6 GSEC , DCPS NM_014026.6(DCPS):c.947C>T (p.Thr316Met) SNV Pathogenic/Likely pathogenic 372235 rs137941190 GRCh37: 11:126215441-126215441
GRCh38: 11:126345546-126345546
7 GSEC , DCPS NM_014026.6(DCPS):c.918G>C (p.Glu306Asp) SNV Uncertain significance 870490 GRCh37: 11:126215412-126215412
GRCh38: 11:126345517-126345517
8 DCPS NM_014026.6(DCPS):c.201+4C>G SNV Uncertain significance 1031228 GRCh37: 11:126174180-126174180
GRCh38: 11:126304285-126304285
9 DCPS NM_014026.6(DCPS):c.329A>G (p.Asn110Ser) SNV Uncertain significance 1031229 GRCh37: 11:126176592-126176592
GRCh38: 11:126306697-126306697
10 DCPS NM_014026.6(DCPS):c.386C>T (p.Thr129Met) SNV Uncertain significance 1031230 GRCh37: 11:126201309-126201309
GRCh38: 11:126331414-126331414
11 DCPS NM_014026.6(DCPS):c.550G>A (p.Ala184Thr) SNV Uncertain significance 1031231 GRCh37: 11:126208208-126208208
GRCh38: 11:126338313-126338313
12 DCPS NM_014026.6(DCPS):c.541G>A (p.Asp181Asn) SNV Uncertain significance 1033249 GRCh37: 11:126208199-126208199
GRCh38: 11:126338304-126338304
13 GSEC , DCPS NM_014026.6(DCPS):c.704C>T (p.Pro235Leu) SNV Uncertain significance 1033250 GRCh37: 11:126213269-126213269
GRCh38: 11:126343374-126343374
14 GSEC , DCPS NM_014026.6(DCPS):c.791G>T (p.Arg264Leu) SNV Uncertain significance 1033251 GRCh37: 11:126215285-126215285
GRCh38: 11:126345390-126345390
15 GSEC , DCPS NM_014026.6(DCPS):c.677G>A (p.Gly226Asp) SNV Likely benign 376909 rs35836343 GRCh37: 11:126213242-126213242
GRCh38: 11:126343347-126343347

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

72
# Symbol AA change Variation ID SNP ID
1 DCPS p.Thr316Met VAR_073956 rs137941190

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:

36
# 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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