MCID: ISL061
MIFTS: 25

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 56
Non-Syndromic Bicoronal Synostosis 56

Characteristics:

Orphanet epidemiological data:

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

Classifications:



Summaries for Isolated Brachycephaly

MalaCards based summary : Isolated Brachycephaly, also known as non-syndromic bicoronal synostosis, is related to synostosis and plasmalogens synthesis deficiency isolated, 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 nervous system

Related Diseases for Isolated Brachycephaly

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:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000248
2 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 broad forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000337
4 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
5 proptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000520
6 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
7 increased intracranial pressure 56 32 frequent (33%) Frequent (79-30%) HP:0002516
8 metacarpal synostosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0009701
9 underdeveloped supraorbital ridges 56 32 frequent (33%) Frequent (79-30%) HP:0009891
10 midface retrusion 56 32 occasional (7.5%) Occasional (29-5%) HP:0011800
11 brachydactyly syndrome 56 Occasional (29-5%)
12 brachydactyly 32 occasional (7.5%) HP:0001156

MGI Mouse Phenotypes related to Isolated Brachycephaly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.26 TCF12 TWIST1 ZIC1 FGFR3
2 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:

39
Bone, Eye

Publications for Isolated Brachycephaly

Variations for Isolated Brachycephaly

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.43 TCF12 TWIST1 ZIC1
2 positive regulation of transcription from RNA polymerase II promoter 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:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.33 TCF12 TWIST1 ZIC1
2 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific 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
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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