MCID: ISL089
MIFTS: 24

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 59
Non-Syndromic Sagittal Synostosis 59
Isolated Dolichocephaly 59

Characteristics:

Orphanet epidemiological data:

59
isolated scaphocephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q75.0
UMLS via Orphanet 73 C0265534
Orphanet 59 ORPHA35093

Summaries for Isolated Scaphocephaly

MalaCards based summary : Isolated Scaphocephaly, also known as non-syndromic sagittal synostosis, is related to synostosis and craniosynostosis 1. An important gene associated with Isolated Scaphocephaly is ERF (ETS2 Repressor Factor). 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:

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 synostosis 10.4
2 craniosynostosis 1 9.4 TWIST1 ERF
3 parietal foramina 9.4 TWIST1 ALX4
4 dysostosis 9.2 TWIST1 ALX4
5 craniosynostosis 8.9 TWIST1 ERF ALX4

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:

59 32 (showing 4, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
2 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
3 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
4 prominent occiput 59 32 occasional (7.5%) Occasional (29-5%) HP:0000269

MGI Mouse Phenotypes related to Isolated Scaphocephaly:

46 (showing 3, show less)
# 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:

41
Bone, Eye

Publications for Isolated Scaphocephaly

Articles related to Isolated Scaphocephaly:

(showing 11, show less)
# Title Authors PMID Year
1
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. 71
22829454 2012
2
Additional squamosal suture synostosis and segmented intracranial volume in patients with non-syndromic sagittal synostosis. 38
30617575 2019
3
Length of synostosis and segmented intracranial volume correlate with age in patients with non-syndromic sagittal synostosis. 38
29067505 2018
4
Perinatal features and rate of cesarean section in newborns with non-syndromic sagittal synostosis. 38
27060068 2016
5
Expansion and compression distraction osteogenesis based on volumetric and neurodevelopmental analysis in sagittal craniosynostosis. 38
26231567 2015
6
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 38
25691418 2015
7
Surgical treatment of sagittal synostosis by extended strip craniectomy: cranial index, nasofrontal angle, reoperation rate, and a review of the literature. 38
24530081 2014
8
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. 38
23918290 2013
9
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. 38
19755431 2010
10
Intracranial volume measurement of sagittal craniosynostosis. 38
17289391 2007
11
Spring-mediated cranioplasty compared with the modified pi-plasty for sagittal synostosis. 38
14582752 2003

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:

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

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

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

Sources for Isolated Scaphocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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