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 and skin, and related phenotypes are low-set ears and global developmental delay

Wikipedia : 76 Al-Raqad syndrome (ARS) is a congenital autosomal recessive syndrome discovered by Jordanian physician... 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 6382)
# Related Disease Score Top Affiliating Genes
1 ben ari shuper mimouni syndrome 12.0
2 androgen insensitivity syndrome 11.6
3 familial mediterranean fever 11.5
4 hyper-ige recurrent infection syndrome, autosomal recessive 11.4
5 renal tubular acidosis, distal, with progressive nerve deafness 11.4
6 immunodeficiency 27a 11.3
7 axenfeld-rieger syndrome 11.3
8 polycystic kidney disease 4 with or without polycystic liver disease 11.3
9 myopathy, centronuclear, 2 11.3
10 hypophosphatemic rickets, autosomal recessive, 1 11.3
11 oculodentodigital dysplasia, autosomal recessive 11.1
12 epidermolysis bullosa, nonspecific, autosomal recessive 11.1
13 prostate cancer 11.1
14 ectopia pupillae 11.1
15 epidermolysis bullosa dystrophica, autosomal recessive 11.1
16 corpus callosum agenesis double urinary collecting 11.1
17 renal tubular acidosis, distal, with hemolytic anemia 10.9
18 alzheimer disease 10.9
19 breast cancer 10.9
20 lupus erythematosus 10.8
21 leukemia 10.8
22 fatty liver disease 10.8
23 schizophrenia 10.8
24 lymphoma 10.8
25 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.8
26 epidermolysis bullosa simplex, autosomal recessive 1 10.8
27 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 10.8
28 mitochondrial dna depletion syndrome 12b , autosomal recessive 10.8
29 epidermolysis bullosa simplex, autosomal recessive 2 10.8
30 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.8
31 autosomal recessive non-syndromic intellectual disability 10.8
32 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.8
33 hypohidrotic ectodermal dysplasia autosomal recessive 10.8
34 ovarian cancer 10.8
35 diabetes mellitus, noninsulin-dependent 10.8
36 parkinson disease, late-onset 10.8
37 rheumatoid arthritis 10.8
38 depression 10.8
39 amyotrophic lateral sclerosis 1 10.8
40 cerebral cavernous malformations 10.8
41 melanoma 10.7
42 multiple sclerosis 10.7
43 lung cancer 10.7
44 epilepsy 10.7
45 diabetes mellitus 10.7
46 premature ovarian failure 1 10.7
47 neural tube defects 10.7
48 gastric cancer 10.7
49 colorectal cancer 10.7
50 esophagitis, eosinophilic, 1 10.7

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 14)
# 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 flat face 32 HP:0012368
6 deeply set eye 32 HP:0000490
7 narrow mouth 32 HP:0000160
8 brachydactyly 32 HP:0001156
9 joint laxity 32 HP:0001388
10 sandal gap 32 HP:0001852
11 thin upper lip vermilion 32 HP:0000219
12 generalized hypotonia 32 HP:0001290
13 hypopigmentation of the skin 32 HP:0001010
14 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

Publications for Al-Raqad Syndrome

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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