ARS
MCID: ALR002
MIFTS: 32

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 74 37 29 6 40
Ars 57 74

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:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 616459
KEGG 37 H01878
MeSH 44 D000015

Summaries for Al-Raqad Syndrome

KEGG : 37
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 androgen insensitivity syndrome and immunodeficiency 27a. 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 skin, and related phenotypes are low-set ears and global developmental delay

UniProtKB/Swiss-Prot : 74 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 : 75 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 8895)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 11.9
2 immunodeficiency 27a 11.9
3 familial mediterranean fever 11.8
4 renal tubular acidosis, distal, with progressive nerve deafness 11.7
5 myopathy, centronuclear, 2 11.7
6 hypophosphatemic rickets, autosomal recessive, 1 11.6
7 axenfeld-rieger syndrome 11.6
8 epidermolysis bullosa, nonspecific, autosomal recessive 11.6
9 polycystic kidney disease 4 with or without polycystic liver disease 11.6
10 epidermolysis bullosa dystrophica, autosomal recessive 11.6
11 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.6
12 autosomal recessive non-syndromic intellectual disability 11.6
13 renal tubular acidosis, distal, autosomal recessive 11.6
14 prostate cancer 11.5
15 oculodentodigital dysplasia, autosomal recessive 11.4
16 dock8 immunodeficiency syndrome 11.4
17 ectopia pupillae 11.4
18 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 11.4
19 autosomal recessive spastic ataxia 11.4
20 renal tubular acidosis, distal, with hemolytic anemia 11.2
21 mitochondrial dna depletion syndrome 12b , autosomal recessive 11.2
22 ovarian cancer 11.2
23 alzheimer disease 11.2
24 systemic lupus erythematosus 11.2
25 breast cancer 11.2
26 fatty liver disease 11.2
27 schizophrenia 11.2
28 migraine with or without aura 1 11.2
29 amyotrophic lateral sclerosis 1 11.2
30 influenza 11.1
31 parkinson disease, late-onset 11.1
32 attention deficit-hyperactivity disorder 11.1
33 multiple sclerosis 11.1
34 stroke, ischemic 11.1
35 sleep disorder 11.1
36 sickle cell disease 11.1
37 vascular disease 11.1
38 leukemia, acute lymphoblastic 11.1
39 chronic kidney disease 11.1
40 diarrhea 11.1
41 melanoma 11.1
42 seizure disorder 11.1
43 heart disease 11.1
44 depression 11.1
45 prion disease 11.1
46 epidermolysis bullosa simplex, autosomal recessive 1 11.1
47 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 11.1
48 epidermolysis bullosa simplex, autosomal recessive 2 11.1
49 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 11.1
50 hypohidrotic ectodermal dysplasia autosomal recessive 11.1

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:

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 generalized hypotonia 32 HP:0001290
6 absent speech 32 HP:0001344
7 narrow mouth 32 HP:0000160
8 flat face 32 HP:0012368
9 inability to walk 32 HP:0002540
10 joint laxity 32 HP:0001388
11 deeply set eye 32 HP:0000490
12 brachydactyly 32 HP:0001156
13 sandal gap 32 HP:0001852
14 thin upper lip vermilion 32 HP:0000219
15 hypopigmentation of the skin 32 HP:0001010
16 unsteady gait 32 HP:0002317

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

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 29 DCPS

Anatomical Context for Al-Raqad Syndrome

MalaCards organs/tissues related to Al-Raqad Syndrome:

41
Eye, Skin

Publications for Al-Raqad Syndrome

Articles related to Al-Raqad Syndrome:

# Title Authors PMID Year
1
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. 8 71
25712129 2015
2
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. 8 71
25701870 2015
3
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome. 38 8
30289615 2018

Variations for Al-Raqad Syndrome

ClinVar genetic disease variations for Al-Raqad Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DCPS NM_014026.6(DCPS): c.201+2T> C single nucleotide variant Pathogenic rs1057519083 11:126174178-126174178 11:126304283-126304283
2 DCPS NM_014026.6(DCPS): c.636+1G> A single nucleotide variant Pathogenic rs770528538 11:126208295-126208295 11:126338400-126338400
3 DCPS NM_014026.6(DCPS): c.947C> T (p.Thr316Met) single nucleotide variant Pathogenic rs137941190 11:126215441-126215441 11:126345546-126345546
4 DCPS NM_014026.6(DCPS): c.260C> T (p.Thr87Met) single nucleotide variant Pathogenic 11:126176523-126176523 11:126306628-126306628

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

74
# 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:

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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