MCID: ISL089
MIFTS: 25

Isolated Scaphocephaly

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Scaphocephaly

MalaCards integrated aliases for Isolated Scaphocephaly:

Name: Isolated Scaphocephaly 60
Non-Syndromic Sagittal Synostosis 60
Isolated Dolichocephaly 60

Characteristics:

Orphanet epidemiological data:

60
isolated scaphocephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q75.0
UMLS via Orphanet 75 C0265534
Orphanet 60 ORPHA35093
SNOMED-CT via HPO 70 271719001 72239002 90145001

Summaries for Isolated Scaphocephaly

MalaCards based summary : Isolated Scaphocephaly, also known as non-syndromic sagittal synostosis, is related to synostosis and parietal foramina. An important gene associated with Isolated Scaphocephaly is TWIST1 (Twist Family BHLH Transcription Factor 1). Affiliated tissues include bone and eye, and related phenotypes are dolichocephaly and frontal bossing

Related Diseases for Isolated Scaphocephaly

Diseases related to Isolated Scaphocephaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 synostosis 10.4
2 parietal foramina 9.7 ALX4 TWIST1
3 craniosynostosis 1 9.6 ERF TWIST1
4 dysostosis 9.6 ALX4 TWIST1
5 craniosynostosis 9.4 ALX4 ERF TWIST1

Graphical network of the top 20 diseases related to Isolated Scaphocephaly:



Diseases related to Isolated Scaphocephaly

Symptoms & Phenotypes for Isolated Scaphocephaly

Human phenotypes related to Isolated Scaphocephaly:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dolichocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000268
2 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
3 increased intracranial pressure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002516
4 prominent occiput 60 33 occasional (7.5%) Occasional (29-5%) HP:0000269

GenomeRNAi Phenotypes related to Isolated Scaphocephaly according to GeneCards Suite gene sharing:

27 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10 ALX4 ERF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10 ERF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10 ERF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10 TWIST1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10 ALX4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10 ALX4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10 ALX4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-131 10 TWIST1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10 ERF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10 ALX4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10 TWIST1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10 ALX4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10 ALX4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10 TWIST1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10 ALX4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10 ERF
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10 ERF TWIST1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10 ALX4 ERF
19 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10 TWIST1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10 ERF
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.43 ALX4
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.43 ALX4
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.43 TWIST1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.43 ALX4
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.43 ALX4 TWIST1

MGI Mouse Phenotypes related to Isolated Scaphocephaly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 ALX4 ERF TWIST1
2 embryo MP:0005380 9.13 ALX4 ERF TWIST1
3 skeleton MP:0005390 8.8 ALX4 ERF TWIST1

Drugs & Therapeutics for Isolated Scaphocephaly

Search Clinical Trials , NIH Clinical Center for Isolated Scaphocephaly

Genetic Tests for Isolated Scaphocephaly

Anatomical Context for Isolated Scaphocephaly

MalaCards organs/tissues related to Isolated Scaphocephaly:

42
Bone, Eye

Publications for Isolated Scaphocephaly

Articles related to Isolated Scaphocephaly:

# Title Authors Year
1
Additional squamosal suture synostosis and segmented intracranial volume in patients with non-syndromic sagittal synostosis. ( 30617575 )
2019
2
Length of synostosis and segmented intracranial volume correlate with age in patients with non-syndromic sagittal synostosis. ( 29067505 )
2018
3
Perinatal features and rate of cesarean section in newborns with non-syndromic sagittal synostosis. ( 27060068 )
2016

Variations for Isolated Scaphocephaly

Expression for Isolated Scaphocephaly

Search GEO for disease gene expression data for Isolated Scaphocephaly.

Pathways for Isolated Scaphocephaly

GO Terms for Isolated Scaphocephaly

Biological processes related to Isolated Scaphocephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.37 ALX4 TWIST1
2 roof of mouth development GO:0060021 9.32 ALX4 TWIST1
3 embryonic digit morphogenesis GO:0042733 9.26 ALX4 TWIST1
4 embryonic skeletal system morphogenesis GO:0048704 9.16 ALX4 TWIST1
5 embryonic forelimb morphogenesis GO:0035115 8.96 ALX4 TWIST1
6 embryonic hindlimb morphogenesis GO:0035116 8.62 ALX4 TWIST1

Molecular functions related to Isolated Scaphocephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.33 ALX4 ERF TWIST1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.13 ALX4 ERF TWIST1
3 DNA-binding transcription factor activity GO:0003700 8.8 ALX4 ERF TWIST1

Sources for Isolated Scaphocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....