SWCOS
MCID: SWN003
MIFTS: 36

Sweeney-Cox Syndrome (SWCOS)

Categories: Bone diseases, Ear diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Sweeney-Cox Syndrome

MalaCards integrated aliases for Sweeney-Cox Syndrome:

Name: Sweeney-Cox Syndrome 56 12 73 29 6 15
Swcos 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 2 unrelated patients (last curated october 2017)


HPO:

31
sweeney-cox syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Sweeney-Cox Syndrome

Disease Ontology : 12 A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has material basis in heterozygous mutation in the TWIST1 gene on chromosome 7p21.

MalaCards based summary : Sweeney-Cox Syndrome, also known as swcos, is related to parietal foramina and crouzon syndrome. An important gene associated with Sweeney-Cox Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways/superpathways are Proteoglycans in cancer and Inhibition of Ribosome Biogenesis by p14(ARF). Affiliated tissues include bone, spleen and cerebellum, and related phenotypes are hearing impairment and global developmental delay

OMIM : 56 Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017). (617746)

UniProtKB/Swiss-Prot : 73 Sweeney-Cox syndrome: An autosomal dominant syndrome characterized by facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears.

Related Diseases for Sweeney-Cox Syndrome

Graphical network of the top 20 diseases related to Sweeney-Cox Syndrome:



Diseases related to Sweeney-Cox Syndrome

Symptoms & Phenotypes for Sweeney-Cox Syndrome

Human phenotypes related to Sweeney-Cox Syndrome:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 global developmental delay 31 HP:0001263
3 hypertelorism 31 HP:0000316
4 wide nasal bridge 31 HP:0000431
5 microtia 31 HP:0008551
6 gastroesophageal reflux 31 HP:0002020
7 brachycephaly 31 HP:0000248
8 cleft palate 31 HP:0000175
9 narrow mouth 31 HP:0000160
10 high palate 31 HP:0000218
11 micrognathia 31 HP:0000347
12 low-set ears 31 HP:0000369
13 broad neck 31 HP:0000475
14 anal atresia 31 HP:0002023
15 overfolded helix 31 HP:0000396
16 choanal atresia 31 HP:0000453
17 generalized hirsutism 31 HP:0002230
18 short philtrum 31 HP:0000322
19 midface retrusion 31 HP:0011800
20 wide anterior fontanel 31 HP:0000260
21 underdeveloped nasal alae 31 HP:0000430
22 cerebellar hypoplasia 31 HP:0001321
23 prominent metopic ridge 31 HP:0005487
24 asplenia 31 HP:0001746
25 short clavicles 31 HP:0000894
26 cupped ear 31 HP:0000378
27 short columella 31 HP:0002000
28 widow's peak 31 HP:0000349
29 long fingers 31 HP:0100807
30 upper eyelid coloboma 31 HP:0000636
31 bilateral cryptorchidism 31 HP:0008689
32 cutaneous syndactyly 31 HP:0012725

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
small cerebellum
learning disability, moderate
speech delay, moderate
small facial nerves

Head And Neck Nose:
wide nasal bridge
choanal atresia
short philtrum
short columella
hypoplastic alae nasi
more
Head And Neck Head:
brachycephaly
flattened occiput

Head And Neck Ears:
low-set ears
small ears
cupped ears
overfolded helices
upturned lobes
more
Skin Nails Hair Hair:
generalized hirsutism
low hairline
patches of hair on back
tufts of hair around ankles

Head And Neck Face:
prominent metopic ridge
widow's peak
midface hypoplasia
low hairline
micrognathia, mild

Skeletal Hands:
long fingers
relatively short distal phalanges
fixed flexion of distal phalanges
cutaneous syndactyly, bilateral 2/3/4/5

Abdomen Spleen:
absent spleen (in 1 patient)

Head And Neck Eyes:
hypertelorism
upper eyelid colobomas
deficient bony orbits
pseudoproptosis
small globes

Abdomen Gastrointestinal:
gastroesophageal reflux
imperforate anus

Head And Neck Mouth:
cleft palate
high-arched palate
small mouth

Head And Neck Neck:
broad neck

Skeletal Skull:
wide anterior fontanel
small frontal bones
thickened frontal bone
patent metopic suture
patent coronal sutures
more
Chest Ribs Sternum Clavicles And Scapulae:
short clavicles
convex medial margins of scapulae

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral

Skeletal Feet:
cutaneous syndactyly, bilateral 2/3/4/5 talipes equinovarus, bilateral

Clinical features from OMIM:

617746

MGI Mouse Phenotypes related to Sweeney-Cox Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 ALX3 POLR1A TWIST1 TWIST2
2 skeleton MP:0005390 8.92 ALX3 POLR1A TWIST1 TWIST2

Drugs & Therapeutics for Sweeney-Cox Syndrome

Search Clinical Trials , NIH Clinical Center for Sweeney-Cox Syndrome

Genetic Tests for Sweeney-Cox Syndrome

Genetic tests related to Sweeney-Cox Syndrome:

# Genetic test Affiliating Genes
1 Sweeney-Cox Syndrome 29 TWIST1

Anatomical Context for Sweeney-Cox Syndrome

MalaCards organs/tissues related to Sweeney-Cox Syndrome:

40
Bone, Spleen, Cerebellum

Publications for Sweeney-Cox Syndrome

Articles related to Sweeney-Cox Syndrome:

# Title Authors PMID Year
1
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans. 61 56 6
28369379 2017
2
Diagnostic value of exome and whole genome sequencing in craniosynostosis. 56 6
27884935 2017
3
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. 61
30450715 2018

Variations for Sweeney-Cox Syndrome

ClinVar genetic disease variations for Sweeney-Cox Syndrome:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TWIST1 NM_000474.4(TWIST1):c.350A>T (p.Glu117Val)SNV Pathogenic 444875 rs1554442016 7:19156595-19156595 7:19116972-19116972
2 TWIST1 NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly)SNV Pathogenic 444876 rs1554442016 7:19156595-19156595 7:19116972-19116972
3 TWIST1 NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)SNV Conflicting interpretations of pathogenicity 235255 rs878852992 7:19156851-19156851 7:19117228-19117228

UniProtKB/Swiss-Prot genetic disease variations for Sweeney-Cox Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TWIST1 p.Glu117Gly VAR_080515
2 TWIST1 p.Glu117Val VAR_080516 rs155444201

Expression for Sweeney-Cox Syndrome

Search GEO for disease gene expression data for Sweeney-Cox Syndrome.

Pathways for Sweeney-Cox Syndrome

Pathways related to Sweeney-Cox Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.27 TWIST2 TWIST1
2 9.97 TWIST1 POLR1A

GO Terms for Sweeney-Cox Syndrome

Biological processes related to Sweeney-Cox Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.58 TWIST2 TWIST1 ALX3
2 embryonic skeletal system morphogenesis GO:0048704 9.37 TWIST1 ALX3
3 negative regulation of osteoblast differentiation GO:0045668 9.32 TWIST2 TWIST1
4 developmental process GO:0032502 9.26 TWIST2 TWIST1
5 embryonic cranial skeleton morphogenesis GO:0048701 9.16 TWIST1 ALX3
6 embryonic forelimb morphogenesis GO:0035115 8.96 TWIST1 ALX3
7 embryonic hindlimb morphogenesis GO:0035116 8.62 TWIST1 ALX3

Molecular functions related to Sweeney-Cox Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.33 TWIST2 TWIST1 ALX3
2 protein dimerization activity GO:0046983 9.26 TWIST2 TWIST1
3 DNA binding GO:0003677 9.26 TWIST2 TWIST1 POLR1A ALX3
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.8 TWIST2 TWIST1 ALX3

Sources for Sweeney-Cox Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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