SOS
MCID: SPN331
MIFTS: 33

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 72 36 39
Sos 57 72
Spondylo-Ocular Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
spondylo-ocular syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
spondyloocular syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondyloocular Syndrome

KEGG : 36 Spondyloocular syndrome (SOS) is a rare autosomal recessive disorder due to mutations in the XYLT2 gene. XYLT2 encodes xylosyltransferases involved in proteoglycan biosynthesis. The affected individuals were found to produce lower amount of chondroitin and heparan sulfate. Clinically, the major features include crystalline lens malformation, cataract, retinal detachment that result in loss of vision, facial dysmorphism, generalized osteoporosis, and immobile spine and platyspondly.

MalaCards based summary : Spondyloocular Syndrome, also known as sos, is related to cardiac arrest and hepatic veno-occlusive 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 eye, bone and cortex, and related phenotypes are short neck and hypertelorism

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Spondylo-ocular syndrome is a rare genetic disorder characterised by lesions in the eye and the... more...

More information 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 162)
# Related Disease Score Top Affiliating Genes
1 cardiac arrest 10.3
2 hepatic veno-occlusive disease 10.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
4 helix syndrome 10.1
5 noonan syndrome 1 10.1
6 body mass index quantitative trait locus 11 10.1
7 body mass index quantitative trait locus 9 10.1
8 body mass index quantitative trait locus 8 10.1
9 body mass index quantitative trait locus 4 10.1
10 body mass index quantitative trait locus 10 10.1
11 body mass index quantitative trait locus 7 10.1
12 body mass index quantitative trait locus 12 10.1
13 body mass index quantitative trait locus 14 10.1
14 body mass index quantitative trait locus 18 10.1
15 body mass index quantitative trait locus 19 10.1
16 generalized epilepsy with febrile seizures plus 10.1
17 bacterial infectious disease 10.1
18 pseudo-turner syndrome 10.1
19 arteries, anomalies of 10.0
20 stroke, ischemic 10.0
21 lipoprotein quantitative trait locus 10.0
22 sleep apnea 10.0
23 osteoporosis 10.0
24 bone mineral density quantitative trait locus 8 10.0
25 bone mineral density quantitative trait locus 15 10.0
26 autosomal recessive disease 10.0
27 cataract 10.0
28 retinal detachment 10.0
29 osteoporosis-pseudoglioma syndrome 10.0
30 stickler syndrome 10.0
31 sensorineural hearing loss 10.0
32 ventricular fibrillation, paroxysmal familial, 1 10.0
33 mycobacterium tuberculosis 1 10.0
34 acute cystitis 10.0
35 fibromatosis, gingival, 1 9.9
36 hypercholesterolemia, familial, 1 9.9
37 hypertriglyceridemia, familial 9.9
38 schizophrenia 9.9
39 gallbladder disease 1 9.9
40 human immunodeficiency virus type 1 9.9
41 gastric cancer 9.9
42 gallbladder disease 9.9
43 gingival fibromatosis 9.9
44 urinary tract infection 9.9
45 cholelithiasis 9.9
46 portal hypertension 9.9
47 pertussis 9.9
48 schizophreniform disorder 9.9
49 adult respiratory distress syndrome 9.9
50 pica disease 9.9

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:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 disproportionate short-trunk short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003521
4 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
5 retinal detachment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000541
6 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
7 iris hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007730
8 abnormality of the intervertebral disk 58 31 hallmark (90%) Very frequent (99-80%) HP:0005108
9 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
10 thoracic kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002942
11 abnormal eyebrow morphology 31 hallmark (90%) HP:0000534
12 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
13 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
14 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
15 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
16 aplasia/hypoplasia of the lens 58 31 frequent (33%) Frequent (79-30%) HP:0008063
17 facial hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0000297
18 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
19 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
20 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
21 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
22 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
23 low posterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0002162
24 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
25 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
26 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
27 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
28 hyperextensible skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000974
29 thickened helices 58 31 occasional (7.5%) Occasional (29-5%) HP:0000391
30 abnormality of the antihelix 58 31 occasional (7.5%) Occasional (29-5%) HP:0009738
31 preauricular pit 58 31 occasional (7.5%) Occasional (29-5%) HP:0004467
32 decreased body weight 31 occasional (7.5%) HP:0004325
33 unilateral cryptorchidism 31 occasional (7.5%) HP:0012741
34 osteopenia 31 HP:0000938
35 muscle weakness 31 HP:0001324
36 sensorineural hearing impairment 31 HP:0000407
37 shield chest 31 HP:0000914
38 atrial septal defect 31 HP:0001631
39 mitral valve prolapse 31 HP:0001634
40 amblyopia 31 HP:0000646
41 abnormality of the eyebrow 58 Very frequent (99-80%)
42 posteriorly rotated ears 31 HP:0000358
43 vertebral compression fractures 31 HP:0002953
44 long fingers 31 HP:0100807
45 long toe 31 HP:0010511

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
retinal detachment
amblyopia
normal sclerae
cataract, juvenile

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

Chest External Features:
shield chest

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

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

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

Muscle Soft Tissue:
muscle weakness

Head And Neck Neck:
webbed neck

Head And Neck Head:
low posterior hairline

Skeletal Spine:
vertebral compression fractures
generalized vertebral flattening

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 (Updated 05-Apr-2021)

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:

40
Eye, Bone, Cortex

Publications for Spondyloocular Syndrome

Articles related to Spondyloocular Syndrome:

(show all 11)
# Title Authors PMID Year
1
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. 6 57 61
26027496 2015
2
Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly. 57 61
12719077 2003
3
Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome. 57 61
11260210 2001
4
Intrafamilial variability of XYLT2-related spondyloocular syndrome. 61
30496831 2019
5
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. 61
31438591 2019
6
A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family. 61
30891060 2019
7
Homozygous XYLT2 variants as a cause of spondyloocular syndrome. 61
29136277 2018
8
Two novel mutations in XYLT2 cause spondyloocular syndrome. 61
28884924 2017
9
Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes. 61
27871115 2016
10
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. 61
26987875 2016
11
Spondylo-ocular syndrome: a new entity involving the eye and spine. 61
16470687 2006

Variations for Spondyloocular Syndrome

ClinVar genetic disease variations for Spondyloocular Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 XYLT2 NM_022167.4(XYLT2):c.692dup (p.Val232fs) Duplication Pathogenic 207977 rs797044806 GRCh37: 17:48431826-48431827
GRCh38: 17:50354465-50354466
2 XYLT2 NM_022167.4(XYLT2):c.520del (p.Ala174fs) Deletion Pathogenic 207978 rs797044807 GRCh37: 17:48431374-48431374
GRCh38: 17:50354013-50354013
3 XYLT2 NM_022167.4(XYLT2):c.2548G>A (p.Asp850Asn) SNV Likely pathogenic 548446 rs1423415130 GRCh37: 17:48437602-48437602
GRCh38: 17:50360241-50360241
4 XYLT2 NM_022167.4(XYLT2):c.1584dup (p.Gly529fs) Duplication Likely pathogenic 804420 rs779864368 GRCh37: 17:48433966-48433967
GRCh38: 17:50356605-50356606
5 XYLT2 NM_022167.4(XYLT2):c.1552del (p.Leu518fs) Deletion Likely pathogenic 974777 GRCh37: 17:48433940-48433940
GRCh38: 17:50356579-50356579
6 XYLT2 NM_022167.4(XYLT2):c.749G>A (p.Arg250His) SNV Uncertain significance 1030800 GRCh37: 17:48431889-48431889
GRCh38: 17:50354528-50354528
7 XYLT2 NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) SNV Benign 2533 rs6504649 GRCh37: 17:48437456-48437456
GRCh38: 17:50360095-50360095

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:

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