MCID: SPN331
MIFTS: 33

Spondyloocular Syndrome

Categories: Genetic diseases, Eye diseases, Bone diseases, Fetal 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 bone, cortex 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 885)
# Related Disease Score Top Affiliating Genes
1 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness 11.9
2 fatty liver disease 11.0
3 short-limb skeletal dysplasia with severe combined immunodeficiency 10.9
4 rocky mountain spotted fever 10.9
5 achondroplasia and severe combined immunodeficiency 10.9
6 vasculitis 10.9
7 breast cancer 10.8
8 adenocarcinoma 10.8
9 cherubism 10.8
10 neural tube defects 10.8
11 arthrogryposis, renal dysfunction, and cholestasis 1 10.8
12 insulin-like growth factor i 10.8
13 filippi syndrome 10.8
14 xeroderma pigmentosum, variant type 10.8
15 opitz gbbb syndrome, type i 10.8
16 muscular dystrophy, becker type 10.8
17 stroke, ischemic 10.8
18 tricuspid atresia 10.8
19 aortic valve disease 2 10.8
20 myelomeningocele 10.8
21 osteomalacia 10.8
22 cholera 10.8
23 scarlet fever 10.8
24 actinic keratosis 10.8
25 erythromelalgia 10.8
26 babesiosis 10.8
27 irritable bowel syndrome 10.8
28 heterotaxy 10.8
29 sickle cell disease 10.8
30 arachnoid cysts 10.8
31 phacomatosis pigmentovascularis 10.8
32 encephalopathy 10.8
33 attention deficit-hyperactivity disorder 10.7
34 myasthenia gravis 10.7
35 pertussis 10.7
36 aortic valve disease 1 10.6
37 cataract 1, multiple types 10.6
38 coumarin resistance 10.6
39 craniodiaphyseal dysplasia, autosomal dominant 10.6
40 obsessive-compulsive disorder 10.6
41 nephrolithiasis, calcium oxalate 10.6
42 cerebrotendinous xanthomatosis 10.6
43 langer mesomelic dysplasia 10.6
44 peho syndrome 10.6
45 cataract 10, multiple types 10.6
46 brugada syndrome 1 10.6
47 cataract 14, multiple types 10.6
48 glomerulopathy with fibronectin deposits 2 10.6
49 transposition of the great arteries, dextro-looped 1 10.6
50 aminoacylase 1 deficiency 10.6

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

GenitourinaryInternal GenitaliaMale:
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 posteriorly rotated ears 32 HP:0000358
41 unilateral cryptorchidism 32 occasional (7.5%) HP:0012741
42 long fingers 32 HP:0100807
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
Bone, Cortex, Skin, Eye

Publications for Spondyloocular Syndrome

Articles related to Spondyloocular Syndrome:

# Title Authors Year
1
Homozygous XYLT2 variants as a cause of spondyloocular syndrome. ( 29136277 )
2017
2
Two novel mutations in XYLT2 cause spondyloocular syndrome. ( 28884924 )
2017
3
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. ( 26987875 )
2016

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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