SOS
MCID: SPN331
MIFTS: 42

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 57 75 37 40
Sos 57 75
Spondylo-Ocular Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
spondylo-ocular syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spondyloocular syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondyloocular Syndrome

UniProtKB/Swiss-Prot : 75 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 fatty liver disease. 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 testes, bone and skin, and related phenotypes are hypertelorism and low-set ears

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 1172)
# Related Disease Score Top Affiliating Genes
1 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness 12.1
2 fatty liver disease 11.1
3 short-limb skeletal dysplasia with severe combined immunodeficiency 11.1
4 rocky mountain spotted fever 11.1
5 achondroplasia and severe combined immunodeficiency 11.1
6 vasculitis 11.1
7 lupus erythematosus 11.1
8 obsessive-compulsive disorder 11.0
9 cerebrotendinous xanthomatosis 11.0
10 verrucous carcinoma 11.0
11 cholera 10.9
12 adenocarcinoma 10.9
13 breast cancer 10.9
14 stroke, ischemic 10.9
15 scarlet fever 10.9
16 autoimmune disease 10.9
17 xeroderma pigmentosum, variant type 10.9
18 heterotaxy 10.9
19 encephalopathy 10.9
20 cherubism 10.9
21 neural tube defects 10.9
22 arthrogryposis, renal dysfunction, and cholestasis 1 10.9
23 insulin-like growth factor i 10.9
24 filippi syndrome 10.9
25 opitz gbbb syndrome, type i 10.9
26 muscular dystrophy, becker type 10.9
27 tricuspid atresia 10.9
28 aortic valve disease 2 10.9
29 lysosomal storage disease 10.9
30 myelomeningocele 10.9
31 ectopic pregnancy 10.9
32 tonsillitis 10.9
33 osteomalacia 10.9
34 rickets 10.9
35 onchocerciasis 10.9
36 bronchitis 10.9
37 luteoma 10.9
38 herpes zoster 10.9
39 actinic keratosis 10.9
40 erythromelalgia 10.9
41 babesiosis 10.9
42 irritable bowel syndrome 10.9
43 mitochondrial disorders 10.9
44 sickle cell disease 10.9
45 arachnoid cysts 10.9
46 phacomatosis pigmentovascularis 10.9
47 attention deficit-hyperactivity disorder 10.9
48 myasthenia gravis 10.9
49 pertussis 10.8
50 aortic valve disease 1 10.7

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



Diseases related to Spondyloocular Syndrome

Symptoms & Phenotypes for Spondyloocular Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spondyloocular Syndrome:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
3 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
4 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
6 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
7 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
8 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
9 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
10 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
11 disproportionate short-trunk short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003521
12 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
13 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
14 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
15 low posterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0002162
16 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
17 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
18 abnormality of the antihelix 59 32 occasional (7.5%) Occasional (29-5%) HP:0009738
19 retinal detachment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000541
20 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
21 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
22 thoracic kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002942
23 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
24 aplasia/hypoplasia of the lens 59 32 frequent (33%) Frequent (79-30%) HP:0008063
25 thickened helices 59 32 occasional (7.5%) Occasional (29-5%) HP:0000391
26 hyperextensible skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000974
27 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
28 preauricular pit 59 32 occasional (7.5%) Occasional (29-5%) HP:0004467
29 abnormality of the intervertebral disk 59 32 hallmark (90%) Very frequent (99-80%) HP:0005108
30 facial hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0000297
31 osteopenia 32 HP:0000938
32 muscle weakness 32 HP:0001324
33 sensorineural hearing impairment 32 HP:0000407
34 shield chest 32 HP:0000914
35 atrial septal defect 32 HP:0001631
36 abnormality of the eyebrow 59 Very frequent (99-80%)
37 mitral valve prolapse 32 HP:0001634
38 amblyopia 32 HP:0000646
39 decreased body weight 32 occasional (7.5%) HP:0004325
40 long fingers 32 HP:0100807
41 posteriorly rotated ears 32 HP:0000358
42 unilateral cryptorchidism 32 occasional (7.5%) HP:0012741
43 vertebral compression fractures 32 HP:0002953
44 long toe 32 HP:0010511
45 abnormal eyebrow morphology 32 hallmark (90%) HP:0000534

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:

41
Testes, Bone, Skin, Cortex, Lung, Liver, Heart

Publications for Spondyloocular Syndrome

Articles related to Spondyloocular Syndrome:

(show top 50) (show all 833)
# Title Authors Year
1
Risk of acute myocardial infarction during use of individual NSAIDs: A nested case-control study from the SOS project. ( 30383755 )
2018
2
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 )
2018
3
Renal Function and Outcome of Out-of-Hospital Cardiac Arrest - Multicenter Prospective Study (SOS-KANTO 2012 Study). ( 30333435 )
2018
4
Association of the time to first epinephrine administration and outcomes in out-of-hospital cardiac arrest: SOS-KANTO 2012 study. ( 29804789 )
2018
5
Intrafamilial variability of XYLT2-related spondyloocular syndrome. ( 30496831 )
2018
6
Bevacizumab exacerbates sinusoidal obstruction syndrome (SOS) in the animal model and increases MMP 9 production. ( 29774103 )
2018
7
Fulminant hepatitis due to very severe sinusoidal obstruction syndrome (SOS/VOD) after autologous peripheral stem cell transplantation: a case report. ( 29970140 )
2018
8
Comprehensive analysis of serum microRNAs in hepatic sinusoidal obstruction syndrome (SOS) in rats: implication as early phase biomarkers for SOS. ( 30019166 )
2018
9
Validation of the SOS-PD scale for assessment of pediatric delirium: a multicenter study. ( 30458826 )
2018
10
Self-wise, Other-wise, Streetwise (SOS) training, an intervention to prevent victimization in dual-diagnosis patients: results from a randomized clinical trial. ( 30461111 )
2018
11
The SOS Response Mediates Sustained Colonization of the Mammalian Gut. ( 30510108 )
2018
12
Zinc Blockade of SOS Response Inhibits Horizontal Transfer of Antibiotic Resistance Genes in Enteric Bacteria. ( 30519543 )
2018
13
SOS genes contribute to Bac8c induced apoptosis-like death in Escherichia coli. ( 30528927 )
2018
14
Induction of apoptosis-like death by periplanetasin-2 in Escherichia coli and contribution of SOS genes. ( 30554389 )
2018
15
Iodine Status After Bariatric Surgery-a Prospective 10-Year Report from the Swedish Obese Subjects (SOS) Study. ( 28766267 )
2018
16
Chemical trapping and characterization of small oxoacids of sulfur (SOS) generated in aqueous oxidations of H2S. ( 29096321 )
2018
17
Stent-over-sponge (SOS): a novel technique complementing endosponge therapy for foregut leaks and perforations. ( 29186638 )
2018
18
Inhibitors of LexA Autoproteolysis and the Bacterial SOS Response Discovered by an Academic-Industry Partnership. ( 29275629 )
2018
19
Detection of early psychotic symptoms: Validation of the Spanish version of the "Symptom Onset in Schizophrenia (SOS) inventory". ( 29287238 )
2018
20
Signs of Severity (SOS) ED Escalation Guide: Bridging the Experience Gap. ( 29290372 )
2018
21
Cyclic AMP Regulates Bacterial Persistence through Repression of the Oxidative Stress Response and SOS-Dependent DNA Repair in Uropathogenic Escherichia coli. ( 29317513 )
2018
22
Predictors of In-Hospital Death After Aneurysmal Subarachnoid Hemorrhage: Analysis of a Nationwide Database (Swiss SOS [Swiss Study on Aneurysmal Subarachnoid Hemorrhage]). ( 29335333 )
2018
23
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
24
Construct Validity of the Societal Outreach Scale (SOS). ( 29390081 )
2018
25
The relationship between oxidized low-density lipoprotein and the NIHSS score among patients with acute ischemic stroke: The SOS-Stroke Study. ( 29407884 )
2018
26
High-throughput screening identifies small molecules that bind to the RAS:SOS:RAS complex and perturb RAS signaling. ( 29444450 )
2018
27
Correction to: Predictors of In-Hospital Death After Aneurysmal Subarachnoid Hemorrhage: Analysis of a Nationwide Database (Swiss SOS [Swiss Study on Aneurysmal Subarachnoid Hemorrhage]). ( 29483368 )
2018
28
Quantitative Proteomic Analysis of Staphylococcus aureus Treated With Punicalagin, a Natural Antibiotic From Pomegranate That Disrupts Iron Homeostasis and Induces SOS. ( 29528570 )
2018
29
The Use of Biosensors to Explore the Potential of Probiotic Strains to Reduce the SOS Response and Mutagenesis in Bacteria. ( 29547508 )
2018
30
Influenza vaccine effectiveness to prevent influenza-related hospitalizations and serious outcomes in Canadian adults over the 2011/12 through 2013/14 influenza seasons: A pooled analysis from the Canadian Immunization Research Network (CIRN) Serious Outcomes Surveillance (SOS Network). ( 29548608 )
2018
31
In vitro Cytotoxicity and Genotoxicity Analysis of Ten Tannery Chemicals Using SOS/umu Tests and High-content In vitro Micronucleus Tests. ( 29600754 )
2018
32
The success of opening single chronic total occlusion lesions to improve myocardialviabilitytrial (SOS-COMEDY): Study protocol of a prospective multicenter study. ( 29668609 )
2018
33
Don't let your patients risk a DIY SOS. ( 29747164 )
2018
34
Expansion of the SOS regulon of Vibrio cholerae through extensive transcriptome analysis and experimental validation. ( 29783948 )
2018
35
SoS Notebook: an interactive multi-language data analysis environment. ( 29790910 )
2018
36
Non-equilibrium repressor binding kinetics link DNA damage dose to transcriptional timing within the SOS gene network. ( 29856734 )
2018
37
DnaA and LexA Proteins Regulate Transcription of the uvrB Gene in Escherichia coli: The Role of DnaA in the Control of the SOS Regulon. ( 29967594 )
2018
38
Deuterium Oxide Enhances Escherichia coli SOS Response Induced by Genotoxicants. ( 30009346 )
2018
39
SOS Asynchronies: Do We Need Help? ( 30113372 )
2018
40
An easy-to-handle speed of sound test object for skills labs using additive manufacturing (RAPTUS-SOS). ( 30177283 )
2018
41
Iron Deficiency Generates Oxidative Stress and Activation of the SOS Response in Caulobacter crescentus. ( 30210482 )
2018
42
Risk of ischemic stroke and the use of individual non-steroidal anti-inflammatory drugs: A multi-country European database study within the SOS Project. ( 30231067 )
2018
43
Suppression of the SOS response modifies spatiotemporal evolution, post-antibiotic effect, bacterial fitness and biofilm formation in quinolone-resistant Escherichia coli. ( 30329046 )
2018
44
Evolving metabolism of 2,4-dinitrotoluene triggers SOS-independent diversification of host cells. ( 30362300 )
2018
45
Protease-deficient SOS constitutive cells have RecN-dependent cell division phenotypes. ( 30422330 )
2018
46
The SOS System: A complex and tightly regulated response to DNA damage. ( 30447030 )
2018
47
Homozygous XYLT2 variants as a cause of spondyloocular syndrome. ( 29136277 )
2017
48
Two novel mutations in XYLT2 cause spondyloocular syndrome. ( 28884924 )
2017
49
Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis. ( 28425619 )
2017
50
Mutation-Specific Mechanisms of Hyperactivation of Noonan Syndrome SOS Molecules Detected with Single-molecule Imaging in Living Cells. ( 29074966 )
2017

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

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:

37
# 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 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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