SOS
MCID: SPN331
MIFTS: 41

Spondyloocular Syndrome (SOS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spondyloocular Syndrome

MalaCards integrated aliases for Spondyloocular Syndrome:

Name: Spondyloocular Syndrome 58 76 38 41
Sos 58 76
Spondylo-Ocular Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
spondylo-ocular syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
cataracts develop by second decade of life
normal sclerae and teeth


HPO:

33
spondyloocular syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondyloocular Syndrome

UniProtKB/Swiss-Prot : 76 Spondyloocular syndrome: A syndrome characterized by cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, osteoporosis, immobile spine with thoracic kyphosis and reduced lumbal lordosis.

MalaCards based summary : Spondyloocular Syndrome, also known as sos, is related to friedreich ataxia, so-called, with optic atrophy and sensorineural deafness and short-limb skeletal dysplasia with severe combined immunodeficiency. An important gene associated with Spondyloocular Syndrome is XYLT2 (Xylosyltransferase 2), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Glycosaminoglycan biosynthesis - heparan sulfate / heparin. Affiliated tissues include bone, testes and skin, and related phenotypes are hypertelorism and short neck

Description from OMIM: 605822

Related Diseases for Spondyloocular Syndrome

Diseases related to Spondyloocular Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1427)
# Related Disease Score Top Affiliating Genes
1 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness 12.1
2 short-limb skeletal dysplasia with severe combined immunodeficiency 11.3
3 fatty liver disease 11.2
4 rocky mountain spotted fever 11.1
5 vasculitis 11.1
6 lupus erythematosus 11.1
7 obsessive-compulsive disorder 11.1
8 cerebrotendinous xanthomatosis 11.1
9 verrucous carcinoma 11.1
10 breast cancer 11.0
11 adenocarcinoma 11.0
12 cholera 11.0
13 irritable bowel syndrome 11.0
14 scarlet fever 11.0
15 creutzfeldt-jakob disease 11.0
16 encephalopathy 11.0
17 autoimmune disease 10.9
18 xeroderma pigmentosum, variant type 10.9
19 stroke, ischemic 10.9
20 osteomalacia 10.9
21 rickets 10.9
22 vascular disease 10.9
23 smallpox 10.9
24 pulmonary embolism 10.9
25 heterotaxy 10.9
26 sickle cell disease 10.9
27 cherubism 10.9
28 felty syndrome 10.9
29 hypertension, essential 10.9
30 migraine with or without aura 1 10.9
31 prostate cancer 10.9
32 temporal arteritis 10.9
33 arthrogryposis, renal dysfunction, and cholestasis 1 10.9
34 haim-munk syndrome 10.9
35 raine syndrome 10.9
36 insulin-like growth factor i 10.9
37 filippi syndrome 10.9
38 tardive dyskinesia 10.9
39 opitz gbbb syndrome, type i 10.9
40 muscular dystrophy, becker type 10.9
41 tricuspid atresia 10.9
42 aortic valve disease 2 10.9
43 ectopic pregnancy 10.9
44 tonsillitis 10.9
45 onchocerciasis 10.9
46 generalized anxiety disorder 10.9
47 acute pancreatitis 10.9
48 bronchitis 10.9
49 luteoma 10.9
50 intestinal volvulus 10.9

Graphical network of the top 20 diseases related to Spondyloocular Syndrome:



Diseases related to Spondyloocular Syndrome

Symptoms & Phenotypes for Spondyloocular Syndrome

Human phenotypes related to Spondyloocular Syndrome:

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
4 disproportionate short-trunk short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003521
5 platyspondyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000926
6 retinal detachment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000541
7 visual loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0000572
8 thoracic kyphosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002942
9 iris hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007730
10 abnormality of the intervertebral disk 60 33 hallmark (90%) Very frequent (99-80%) HP:0005108
11 abnormal eyebrow morphology 33 hallmark (90%) HP:0000534
12 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
13 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
14 microphthalmia 60 33 frequent (33%) Frequent (79-30%) HP:0000568
15 ventricular septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001629
16 aplasia/hypoplasia of the lens 60 33 frequent (33%) Frequent (79-30%) HP:0008063
17 facial hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0000297
18 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
19 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
20 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
21 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
22 long philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000343
23 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
24 webbed neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000465
25 low posterior hairline 60 33 occasional (7.5%) Occasional (29-5%) HP:0002162
26 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
27 abnormality of the antihelix 60 33 occasional (7.5%) Occasional (29-5%) HP:0009738
28 thin vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0000233
29 thickened helices 60 33 occasional (7.5%) Occasional (29-5%) HP:0000391
30 hyperextensible skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000974
31 preauricular pit 60 33 occasional (7.5%) Occasional (29-5%) HP:0004467
32 decreased body weight 33 occasional (7.5%) HP:0004325
33 unilateral cryptorchidism 33 occasional (7.5%) HP:0012741
34 osteopenia 33 HP:0000938
35 muscle weakness 33 HP:0001324
36 sensorineural hearing impairment 33 HP:0000407
37 shield chest 33 HP:0000914
38 atrial septal defect 33 HP:0001631
39 mitral valve prolapse 33 HP:0001634
40 abnormality of the eyebrow 60 Very frequent (99-80%)
41 amblyopia 33 HP:0000646
42 long fingers 33 HP:0100807
43 posteriorly rotated ears 33 HP:0000358
44 long toe 33 HP:0010511
45 vertebral compression fractures 33 HP:0002953

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears
sensorineural hearing loss

Muscle Soft Tissue:
muscle weakness

Chest External Features:
shield chest

Cardiovascular Heart:
atrial septal defect
mitral valve prolapse
aortic valve dysplasia

Skeletal Spine:
vertebral compression fractures
generalized vertebral flattening

Neurologic Central Nervous System:
learning difficulties (in some patients)

Growth Height:
short stature (in some patients)

Growth Weight:
low weight (in some patients)

Genitourinary Ureters:
dilation of distal ureters

Skeletal Limbs:
multiple long bone fractures

Head And Neck Eyes:
nystagmus
retinal detachment
amblyopia
normal sclerae
cataract, juvenile

Head And Neck Neck:
webbed neck

Head And Neck Head:
low posterior hairline

Skeletal Hands:
long fingers
thin cortex of metacarpals
thin cortex of phalanges

Skeletal Feet:
flat feet
long toes

Head And Neck Teeth:
normal teeth

Skeletal:
decreased bone mineral density

Genitourinary Internal Genitalia Male:
cryptorchidism, unilateral (in some patients)

Skeletal Skull:
thin calvarial bone

Clinical features from OMIM:

605822

Drugs & Therapeutics for Spondyloocular Syndrome

Search Clinical Trials , NIH Clinical Center for Spondyloocular Syndrome

Genetic Tests for Spondyloocular Syndrome

Anatomical Context for Spondyloocular Syndrome

MalaCards organs/tissues related to Spondyloocular Syndrome:

42
Bone, Testes, Skin, Heart, Liver, Brain, Prostate

Publications for Spondyloocular Syndrome

Articles related to Spondyloocular Syndrome:

(show top 50) (show all 1352)
# Title Authors Year
1
Association Between Therapeutic Hypothermia and Outcomes in Patients with Non-shockable Out-of-Hospital Cardiac Arrest Developed After Emergency Medical Service Arrival (SOS-KANTO 2012 Analysis Report). ( 30276614 )
2019
2
Association of the time to first epinephrine administration and outcomes in out-of-hospital cardiac arrest: SOS-KANTO 2012 study. ( 29804789 )
2019
3
A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family. ( 30891060 )
2019
4
SMS SOS: a randomized controlled trial to reduce self-harm and suicide attempts using SMS text messaging. ( 30999952 )
2019
5
Effects of the SOS (A501C/T605C) and DS (I201C/A433C) Disulfide Bonds on HIV-1 Membrane Envelope Glycoprotein Conformation and Function. ( 30944182 )
2019
6
Soda, salad, and socioeconomic status: Findings from the Seattle Obesity Study (SOS). ( 30623013 )
2019
7
Systematic review of defibrotide studies in the treatment of veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS). ( 30804485 )
2019
8
Validation of treatment outcomes according to revised severity criteria from European Society for Blood and Marrow Transplantation (EBMT) for sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD). ( 30809031 )
2019
9
Publisher Correction: Systematic review of defibrotide studies in the treatment of veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS). ( 30932018 )
2019
10
An easy-to-handle speed of sound test object for skills labs using additive manufacturing (RAPTUS-SOS). ( 30177283 )
2019
11
Suppression of the SOS response modifies spatiotemporal evolution, post-antibiotic effect, bacterial fitness and biofilm formation in quinolone-resistant Escherichia coli. ( 30329046 )
2019
12
Evolving metabolism of 2,4-dinitrotoluene triggers SOS-independent diversification of host cells. ( 30362300 )
2019
13
Protease-deficient SOS constitutive cells have RecN-dependent cell division phenotypes. ( 30422330 )
2019
14
The SOS system: A complex and tightly regulated response to DNA damage. ( 30447030 )
2019
15
The SOS Response Mediates Sustained Colonization of the Mammalian Gut. ( 30510108 )
2019
16
Revisional Bariatric Surgery and Choosing the First Procedure: Twenty-Six Years of Follow-up in the SOS Study. ( 30601873 )
2019
17
SOS Response Inhibitory Properties by Potential Probiotic Formulations of Bacillus amyloliquefaciens B-1895 and Bacillus subtilis KATMIRA1933 Obtained by Solid-State Fermentation. ( 30603963 )
2019
18
SOS: Medical Students Get Sunburn Too. ( 30665587 )
2019
19
A Novel Sliding Mode Control for a Class of Stochastic Polynomial Fuzzy Systems Based on SOS Method. ( 30668488 )
2019
20
SOS - Appreciation overboard! Illegitimacy and psychologists' job satisfaction. ( 30674735 )
2019
21
Ruptured posterior circulation aneurysms: epidemiology, patterns of care, and outcomes from the Swiss SOS national registry. ( 30680461 )
2019
22
Content validity of the SOS-WRIST questionnaire for timely identification of wrist overuse in young athletes. ( 30767690 )
2019
23
Correction to: Ruptured posterior circulation aneurysms: epidemiology, patterns of care, and outcomes from the Swiss SOS national registry. ( 30796586 )
2019
24
A new method to analyze and understand molecular linear and nonlinear optical responses via field-induced functions: a straightforward alternative to sum-over-states (SOS) analysis. ( 30834903 )
2019
25
A molecular assembly phase transition and kinetic proofreading modulate Ras activation by SOS. ( 30846600 )
2019
26
Oxidative damage induced by H2O2 reveals SOS adaptive transcriptional response of Dietzia cinnamea strain P4. ( 30900038 )
2019
27
ImuB and ImuC contribute to UV-induced mutagenesis as part of the SOS regulon in Pseudomonas aeruginosa. ( 30921487 )
2019
28
Allosteric autoactivation of SOS and its kinetic mechanism. ( 30983499 )
2019
29
Ruptured PICA aneurysms: presentation and treatment outcomes compared to other posterior circulation aneurysms. A Swiss SOS study. ( 31025178 )
2019
30
Integrated Transcriptional Regulatory Network of Quorum Sensing, Replication Control, and SOS Response in Dinoroseobacter shibae. ( 31031742 )
2019
31
Stent-over-sponge (SOS): a rescue option in patients with complex postoperative anastomotic leaks after esophagectomy. ( 31049889 )
2019
32
Validating the Stopping Opioids after Surgery (SOS) Score for Sustained Postoperative Prescription Opioid Use in Spine Surgical Patients. ( 31078697 )
2019
33
Correction to: Ruptured PICA aneurysms: presentation and treatment outcomes compared to other posterior circulation aneurysms. A Swiss SOS study. ( 31102005 )
2019
34
N-acetylcysteine blocks SOS induction and mutagenesis produced by fluoroquinolones in Escherichia coli. ( 31102529 )
2019
35
Risk of acute myocardial infarction during use of individual NSAIDs: A nested case-control study from the SOS project. ( 30383755 )
2018
36
Renal Function and Outcome of Out-of-Hospital Cardiac Arrest - Multicenter Prospective Study (SOS-KANTO 2012 Study). ( 30333435 )
2018
37
Homozygous XYLT2 variants as a cause of spondyloocular syndrome. ( 29136277 )
2018
38
Intrafamilial variability of XYLT2-related spondyloocular syndrome. ( 30496831 )
2018
39
Comprehensive analysis of serum microRNAs in hepatic sinusoidal obstruction syndrome (SOS) in rats: implication as early phase biomarkers for SOS. ( 30019166 )
2018
40
Sinusoidal Obstruction Syndrome (SOS) in Multiple Myeloma with Renal Failure. ( 30631618 )
2018
41
Bevacizumab exacerbates sinusoidal obstruction syndrome (SOS) in the animal model and increases MMP 9 production. ( 29774103 )
2018
42
Fulminant hepatitis due to very severe sinusoidal obstruction syndrome (SOS/VOD) after autologous peripheral stem cell transplantation: a case report. ( 29970140 )
2018
43
Chemical trapping and characterization of small oxoacids of sulfur (SOS) generated in aqueous oxidations of H2S. ( 29096321 )
2018
44
Stent-over-sponge (SOS): a novel technique complementing endosponge therapy for foregut leaks and perforations. ( 29186638 )
2018
45
Inhibitors of LexA Autoproteolysis and the Bacterial SOS Response Discovered by an Academic-Industry Partnership. ( 29275629 )
2018
46
Detection of early psychotic symptoms: Validation of the Spanish version of the "Symptom Onset in Schizophrenia (SOS) inventory". ( 29287238 )
2018
47
Signs of Severity (SOS) ED Escalation Guide: Bridging the Experience Gap. ( 29290372 )
2018
48
Cyclic AMP Regulates Bacterial Persistence through Repression of the Oxidative Stress Response and SOS-Dependent DNA Repair in Uropathogenic Escherichia coli. ( 29317513 )
2018
49
Predictors of In-Hospital Death After Aneurysmal Subarachnoid Hemorrhage: Analysis of a Nationwide Database (Swiss SOS [Swiss Study on Aneurysmal Subarachnoid Hemorrhage]). ( 29335333 )
2018
50
The Barrow Neurological Institute Grading Scale as a Predictor for Delayed Cerebral Ischemia and Outcome After Aneurysmal Subarachnoid Hemorrhage: Data From a Nationwide Patient Registry (Swiss SOS). ( 29351673 )
2018

Variations for Spondyloocular Syndrome

ClinVar genetic disease variations for Spondyloocular Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 XYLT2 NM_022167.3(XYLT2): c.692dupC (p.Val232Glyfs) duplication Pathogenic rs797044806 GRCh37 Chromosome 17, 48431832: 48431832
2 XYLT2 NM_022167.3(XYLT2): c.692dupC (p.Val232Glyfs) duplication Pathogenic rs797044806 GRCh38 Chromosome 17, 50354471: 50354471
3 XYLT2 NM_022167.3(XYLT2): c.520delG (p.Ala174Profs) deletion Pathogenic rs797044807 GRCh38 Chromosome 17, 50354014: 50354014
4 XYLT2 NM_022167.3(XYLT2): c.520delG (p.Ala174Profs) deletion Pathogenic rs797044807 GRCh37 Chromosome 17, 48431375: 48431375
5 XYLT2 NM_022167.3(XYLT2): c.2548G> A (p.Asp850Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 50360241: 50360241
6 XYLT2 NM_022167.3(XYLT2): c.2548G> A (p.Asp850Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 48437602: 48437602

Expression for Spondyloocular Syndrome

Search GEO for disease gene expression data for Spondyloocular Syndrome.

Pathways for Spondyloocular Syndrome

Pathways related to Spondyloocular Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532
2 Glycosaminoglycan biosynthesis - heparan sulfate / heparin hsa00534

GO Terms for Spondyloocular Syndrome

Sources for Spondyloocular 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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