MCID: ISL089
MIFTS: 26

Isolated Scaphocephaly

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

Aliases & Classifications for Isolated Scaphocephaly

MalaCards integrated aliases for Isolated Scaphocephaly:

Name: Isolated Scaphocephaly 55
Non-Syndromic Sagittal Synostosis 55
Isolated Dolichocephaly 55

Characteristics:

Orphanet epidemiological data:

55
isolated scaphocephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 55 ORPHA35093
UMLS via Orphanet 70 C0265534
ICD10 via Orphanet 33 Q75.0
SNOMED-CT via HPO 65 72239002 90145001 271719001

Summaries for Isolated Scaphocephaly

MalaCards based summary : Isolated Scaphocephaly, also known as non-syndromic sagittal synostosis, is related to synostosis and aging, and has symptoms including dolichocephaly, prominent occiput and frontal bossing. An important gene associated with Isolated Scaphocephaly is ERF (ETS2 Repressor Factor). Affiliated tissues include bone and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 10.1
2 aging 10.0
3 craniosynostosis 1 9.4 ERF TWIST1
4 parietal foramina 9.4 ALX4 TWIST1
5 craniosynostosis 9.1 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:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dolichocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000268
2 prominent occiput 55 31 occasional (7.5%) Occasional (29-5%) HP:0000269
3 frontal bossing 55 31 occasional (7.5%) Occasional (29-5%) HP:0002007
4 increased intracranial pressure 55 31 occasional (7.5%) Occasional (29-5%) HP:0002516

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

25 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10 ERF ALX4
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 ERF ALX4
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:

43
# 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:

38
Bone, Eye

Publications for Isolated Scaphocephaly

Articles related to Isolated Scaphocephaly:

# Title Authors Year
1
Length of synostosis and segmented intracranial volume correlate with age in patients with non-syndromic sagittal synostosis. ( 29067505 )
2018
2
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 transcription, DNA-templated GO:0006351 9.58 ALX4 ERF TWIST1
2 muscle organ development GO:0007517 9.37 ALX4 TWIST1
3 palate development GO:0060021 9.32 ALX4 TWIST1
4 embryonic digit morphogenesis GO:0042733 9.26 ALX4 TWIST1
5 embryonic skeletal system morphogenesis GO:0048704 9.16 ALX4 TWIST1
6 embryonic forelimb morphogenesis GO:0035115 8.96 ALX4 TWIST1
7 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 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 8.96 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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