SWILS
MCID: SLW006
MIFTS: 14

Saul-Wilson Syndrome (SWILS)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Saul-Wilson Syndrome

MalaCards integrated aliases for Saul-Wilson Syndrome:

Name: Saul-Wilson Syndrome 57 6
Microcephalic Osteodysplastic Dysplasia 57
Syndrome, Saul-Wilson 40
Swils 57

Classifications:



External Ids:

OMIM 57 618150

Summaries for Saul-Wilson Syndrome

OMIM : 57 Saul-Wilson syndrome is a rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers. Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while the hands and feet exhibit short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals (summary by Ferreira et al., 2018). (618150)

MalaCards based summary : Saul-Wilson Syndrome, also known as microcephalic osteodysplastic dysplasia, is related to microcephalic osteodysplastic dysplasia, saul-wilson type. An important gene associated with Saul-Wilson Syndrome is COG4 (Component Of Oligomeric Golgi Complex 4). Affiliated tissues include bone and eye.

Related Diseases for Saul-Wilson Syndrome

Diseases related to Saul-Wilson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic dysplasia, saul-wilson type 12.4

Symptoms & Phenotypes for Saul-Wilson Syndrome

Clinical features from OMIM:

618150

Drugs & Therapeutics for Saul-Wilson Syndrome

Search Clinical Trials , NIH Clinical Center for Saul-Wilson Syndrome

Genetic Tests for Saul-Wilson Syndrome

Anatomical Context for Saul-Wilson Syndrome

MalaCards organs/tissues related to Saul-Wilson Syndrome:

41
Bone, Eye

Publications for Saul-Wilson Syndrome

Articles related to Saul-Wilson Syndrome:

# Title Authors Year
1
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. ( 30290151 )
2018
2
COMMENTARY-The Saul-Wilson syndrome from its early days until now. ( 30548960 )
2018
3
Total shoulder arthroplasty in a patient with microcephalic osteodysplastic dysplasia: a case report with 4-year outcomes. ( 26927438 )
2016
4
Progressive hip joint subluxation in Saul-Wilson syndrome. ( 26239279 )
2015
5
Microcephalic osteodysplastic dysplasia. ( 8074143 )
1994

Variations for Saul-Wilson Syndrome

ClinVar genetic disease variations for Saul-Wilson Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COG4 NM_015386.2(COG4): c.1546G> A (p.Gly516Arg) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 16, 70530270: 70530270
2 COG4 NM_015386.2(COG4): c.1546G> A (p.Gly516Arg) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 16, 70496367: 70496367
3 COG4 NM_015386.2(COG4): c.1546G> C (p.Gly516Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 70530270: 70530270
4 COG4 NM_015386.2(COG4): c.1546G> C (p.Gly516Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 70496367: 70496367

Expression for Saul-Wilson Syndrome

Search GEO for disease gene expression data for Saul-Wilson Syndrome.

Pathways for Saul-Wilson Syndrome

GO Terms for Saul-Wilson Syndrome

Sources for Saul-Wilson 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
Content
Loading form....