MCID: ISL089
MIFTS: 22

Isolated Scaphocephaly malady

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

Aliases & Classifications for Isolated Scaphocephaly

Aliases & Descriptions for Isolated Scaphocephaly:

Name: Isolated Scaphocephaly 56
Non-Syndromic Sagittal Synostosis 56
Isolated Dolichocephaly 56

Characteristics:

Orphanet epidemiological data:

56
isolated scaphocephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 56 ORPHA35093
ICD10 via Orphanet 34 Q75.0

Summaries for Isolated Scaphocephaly

MalaCards based summary : Isolated Scaphocephaly, also known as non-syndromic sagittal synostosis, is related to synostosis and cutaneous leishmaniasis, and has symptoms including dolichocephaly, prominent occiput and frontal bossing. 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 Increased shRNA abundance (Z-score > 2) and craniofacial

Related Diseases for Isolated Scaphocephaly

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

id Related Disease Score Top Affiliating Genes
1 synostosis 9.9
2 cutaneous leishmaniasis 9.6 ALX4 ERF TWIST1
3 postinfectious vasculitis 9.5 ALX4 ERF TWIST1

Symptoms & Phenotypes for Isolated Scaphocephaly

Human phenotypes related to Isolated Scaphocephaly:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dolichocephaly 56 32 Very frequent (99-80%) HP:0000268
2 prominent occiput 56 32 Occasional (29-5%) HP:0000269
3 frontal bossing 56 32 Occasional (29-5%) HP:0002007
4 increased intracranial pressure 56 32 Occasional (29-5%) HP:0002516

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

26
id 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 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 TWIST1 ALX4 ERF
2 embryo MP:0005380 9.13 TWIST1 ALX4 ERF
3 skeleton MP:0005390 8.8 TWIST1 ALX4 ERF

Drugs & Therapeutics for Isolated Scaphocephaly

Interventional clinical trials:


id Name Status NCT ID Phase
1 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847

Search NIH Clinical Center for Isolated Scaphocephaly

Genetic Tests for Isolated Scaphocephaly

Anatomical Context for Isolated Scaphocephaly

MalaCards organs/tissues related to Isolated Scaphocephaly:

39
Bone, Eye

Publications for Isolated Scaphocephaly

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:

id 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:

id 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 transcription factor activity, sequence-specific DNA binding 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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