MCID: ISL061
MIFTS: 28

Isolated Brachycephaly

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

Aliases & Classifications for Isolated Brachycephaly

MalaCards integrated aliases for Isolated Brachycephaly:

Name: Isolated Brachycephaly 55
Non-Syndromic Bicoronal Synostosis 55

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet 55 ORPHA35099
UMLS via Orphanet 70 C0221356
ICD10 via Orphanet 33 Q75.0

Summaries for Isolated Brachycephaly

MalaCards based summary : Isolated Brachycephaly, also known as non-syndromic bicoronal synostosis, is related to synostosis and plagiocephaly, and has symptoms including brachycephaly, hypertelorism and broad forehead. An important gene associated with Isolated Brachycephaly is ZIC1 (Zic Family Member 1), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include bone and eye, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Isolated Brachycephaly

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

# Related Disease Score Top Affiliating Genes
1 synostosis 29.1 FGFR3 TCF12 TWIST1
2 plagiocephaly 9.9 FGFR3 TWIST1
3 apert syndrome 9.8 FGFR3 TWIST1
4 muenke syndrome 9.8 FGFR3 TWIST1
5 bone development disease 9.8 FGFR3 TWIST1
6 saethre-chotzen syndrome 9.7 FGFR3 TWIST1
7 pfeiffer syndrome 9.7 FGFR3 TWIST1
8 gliosarcoma 9.5 FGFR3 TWIST1
9 isolated plagiocephaly 8.9 FGFR3 TCF12 TWIST1 ZIC1
10 craniosynostosis 8.9 FGFR3 TCF12 TWIST1 ZIC1

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



Diseases related to Isolated Brachycephaly

Symptoms & Phenotypes for Isolated Brachycephaly

Human phenotypes related to Isolated Brachycephaly:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
2 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
3 broad forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000337
4 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
5 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
6 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
7 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 increased intracranial pressure 55 31 frequent (33%) Frequent (79-30%) HP:0002516
9 metacarpal synostosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0009701
10 underdeveloped supraorbital ridges 55 31 frequent (33%) Frequent (79-30%) HP:0009891
11 midface retrusion 55 31 occasional (7.5%) Occasional (29-5%) HP:0011800

MGI Mouse Phenotypes related to Isolated Brachycephaly:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.46 FGFR3 TCF12 TWIST1 ZIC1
2 growth/size/body region MP:0005378 9.26 FGFR3 TCF12 TWIST1 ZIC1
3 nervous system MP:0003631 8.92 FGFR3 TCF12 TWIST1 ZIC1

Drugs & Therapeutics for Isolated Brachycephaly

Search Clinical Trials , NIH Clinical Center for Isolated Brachycephaly

Genetic Tests for Isolated Brachycephaly

Anatomical Context for Isolated Brachycephaly

MalaCards organs/tissues related to Isolated Brachycephaly:

38
Bone, Eye

Publications for Isolated Brachycephaly

Articles related to Isolated Brachycephaly:

# Title Authors Year
1
Long-term follow-up of dynamic cranioplasty for brachycephaly--non-syndromal bicoronal synostosis. ( 11484525 )
2001

Variations for Isolated Brachycephaly

ClinVar genetic disease variations for Isolated Brachycephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(11;19)(p11.2;p13.3)dn Translocation Pathogenic
2 complex Pathogenic
3 46;X;t(X;5)(q24;q13)dn Translocation Pathogenic
4 46;XY;t(3;18)(q13.31;q22.1)dn Translocation Pathogenic

Expression for Isolated Brachycephaly

Search GEO for disease gene expression data for Isolated Brachycephaly.

Pathways for Isolated Brachycephaly

Pathways related to Isolated Brachycephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 FGFR3 TWIST1 ZIC1

GO Terms for Isolated Brachycephaly

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.43 TCF12 TWIST1 ZIC1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.33 TCF12 TWIST1 ZIC1
3 cell differentiation GO:0030154 9.13 TCF12 TWIST1 ZIC1
4 muscle organ development GO:0007517 8.62 TCF12 TWIST1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.33 TCF12 TWIST1 ZIC1
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.32 TCF12 ZIC1
3 protein dimerization activity GO:0046983 9.26 TCF12 TWIST1
4 E-box binding GO:0070888 8.96 TCF12 TWIST1
5 bHLH transcription factor binding GO:0043425 8.62 TCF12 TWIST1

Sources for Isolated Brachycephaly

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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