MCID: ISL089
MIFTS: 26

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 58
Non-Syndromic Sagittal Synostosis 58
Isolated Dolichocephaly 58

Characteristics:

Orphanet epidemiological data:

58
isolated scaphocephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q75.0
UMLS via Orphanet 71 C0265534
Orphanet 58 ORPHA35093
SNOMED-CT via HPO 68 271719001 72239002 90145001

Summaries for Isolated Scaphocephaly

MalaCards based summary : Isolated Scaphocephaly, also known as non-syndromic sagittal synostosis, is related to synostosis and hypertelorism. An important gene associated with Isolated Scaphocephaly is ERF (ETS2 Repressor Factor). Affiliated tissues include eye, and related phenotypes are dolichocephaly and frontal bossing

Related Diseases for Isolated Scaphocephaly

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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
2 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
3 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
4 prominent occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0000269

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.77 TWIST1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.77 ALX4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.77 ALX4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.77 ALX4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.77 TWIST1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.77 ERF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.77 TWIST1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.77 ALX4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.77 ALX4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.77 ERF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.77 ALX4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.77 TWIST1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.77 ALX4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.77 ALX4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.77 ERF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.77 ERF TWIST1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.77 ALX4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.77 ERF
19 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.77 ERF
20 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.77 TWIST1 ALX4

MGI Mouse Phenotypes related to Isolated Scaphocephaly:

46
# 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 limbs/digits/tail MP:0005371 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:

40
Eye

Publications for Isolated Scaphocephaly

Articles related to Isolated Scaphocephaly:

(show all 16)
# Title Authors PMID Year
1
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. 6
22829454 2012
2
Disappointing results of spring-assisted cranial vault expansion in patients with Crouzon syndrome presenting with sagittal synostosis. 61
33794489 2021
3
New method for quantification of severity of isolated scaphocephaly linked to intracranial volume. 61
33070215 2021
4
Total Cranial Reconstruction for the Treatment of Sagittal Craniosynostosis in Children. 61
32890147 2021
5
Spring-Assisted Strip Craniectomy Versus Cranial Vault Remodeling: Long-Term Psychological, Behavioral, and Executive Function Outcomes. 61
32890160 2020
6
Incidence of delayed intracranial hypertension in children with isolated sagittal synostosis following open calvarial vault reconstruction. 61
31811369 2020
7
Additional squamosal suture synostosis and segmented intracranial volume in patients with non-syndromic sagittal synostosis. 61
30617575 2019
8
Length of synostosis and segmented intracranial volume correlate with age in patients with non-syndromic sagittal synostosis. 61
29067505 2018
9
Perinatal features and rate of cesarean section in newborns with non-syndromic sagittal synostosis. 61
27060068 2016
10
Expansion and compression distraction osteogenesis based on volumetric and neurodevelopmental analysis in sagittal craniosynostosis. 61
26231567 2015
11
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 61
25691418 2015
12
Surgical treatment of sagittal synostosis by extended strip craniectomy: cranial index, nasofrontal angle, reoperation rate, and a review of the literature. 61
24530081 2014
13
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. 61
23918290 2013
14
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. 61
19755431 2010
15
Intracranial volume measurement of sagittal craniosynostosis. 61
17289391 2007
16
Spring-mediated cranioplasty compared with the modified pi-plasty for sagittal synostosis. 61
14582752 2003

Variations for Isolated Scaphocephaly

ClinVar genetic disease variations for Isolated Scaphocephaly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALX4 NM_021926.4(ALX4):c.19G>T (p.Val7Phe) SNV risk factor 88846 rs281865153 GRCh37: 11:44331594-44331594
GRCh38: 11:44310044-44310044
2 ALX4 NM_021926.4(ALX4):c.631A>G (p.Lys211Glu) SNV risk factor 88847 rs281865154 GRCh37: 11:44297044-44297044
GRCh38: 11:44275494-44275494

Expression for Isolated Scaphocephaly

Search GEO for disease gene expression data for Isolated Scaphocephaly.

Pathways for Isolated Scaphocephaly

GO Terms for Isolated Scaphocephaly

Cellular components related to Isolated Scaphocephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.8 TWIST1 ERF ALX4

Biological processes related to Isolated Scaphocephaly 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 TWIST1 ERF ALX4
2 muscle organ development GO:0007517 9.37 TWIST1 ALX4
3 roof of mouth development GO:0060021 9.32 TWIST1 ALX4
4 embryonic digit morphogenesis GO:0042733 9.26 TWIST1 ALX4
5 embryonic skeletal system morphogenesis GO:0048704 9.16 TWIST1 ALX4
6 embryonic forelimb morphogenesis GO:0035115 8.96 TWIST1 ALX4
7 embryonic hindlimb morphogenesis GO:0035116 8.62 TWIST1 ALX4

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 TWIST1 ERF ALX4
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.26 TWIST1 ALX4
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.13 TWIST1 ERF ALX4
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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