MCID: ISL061
MIFTS: 27

Isolated Brachycephaly

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

Aliases & Classifications for Isolated Brachycephaly

MalaCards integrated aliases for Isolated Brachycephaly:

Name: Isolated Brachycephaly 59
Non-Syndromic Bicoronal Synostosis 59

Characteristics:

Orphanet epidemiological data:

59
isolated brachycephaly
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 C0221356
Orphanet 59 ORPHA35099

Summaries for Isolated Brachycephaly

MalaCards based summary : Isolated Brachycephaly, also known as non-syndromic bicoronal synostosis, is related to saethre-chotzen syndrome and synostosis. An important gene associated with Isolated Brachycephaly is POGZ (Pogo Transposable Element Derived With ZNF Domain), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include bone and eye, and related phenotypes are brachycephaly and broad forehead

Related Diseases for Isolated Brachycephaly

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 saethre-chotzen syndrome 29.4 TWIST1 FGFR3
2 synostosis 28.7 TWIST1 TCF12 FGFR3
3 craniosynostosis 28.0 ZIC1 TWIST1 TCF12 FGFR3
4 syndromic craniosynostosis 10.0
5 plagiocephaly 9.7 TWIST1 FGFR3
6 apert syndrome 9.6 TWIST1 FGFR3
7 muenke syndrome 9.6 TWIST1 FGFR3
8 hypertelorism 9.6 TWIST1 POGZ
9 visual epilepsy 9.5 POGZ FGFR3
10 pfeiffer syndrome 9.5 TWIST1 FGFR3
11 gliosarcoma 9.4 TWIST1 FGFR3
12 strabismus 9.2 TWIST1 POGZ FGFR3
13 isolated plagiocephaly 8.6 ZIC1 TWIST1 TCF12 FGFR3

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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
2 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
3 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
4 increased intracranial pressure 59 32 frequent (33%) Frequent (79-30%) HP:0002516
5 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
6 underdeveloped supraorbital ridges 59 32 frequent (33%) Frequent (79-30%) HP:0009891
7 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
8 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
9 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
10 midface retrusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0011800
11 metacarpal synostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0009701

Drugs & Therapeutics for Isolated Brachycephaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cranial Orthotic Device Versus Repositioning Techniques for the Management of Plagiocephaly: the CRANIO Randomized Trial Not yet recruiting NCT02370901

Search NIH Clinical Center for Isolated Brachycephaly

Genetic Tests for Isolated Brachycephaly

Anatomical Context for Isolated Brachycephaly

MalaCards organs/tissues related to Isolated Brachycephaly:

41
Bone, Eye

Publications for Isolated Brachycephaly

Articles related to Isolated Brachycephaly:

# Title Authors PMID Year
1
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. 71
23354436 2013
2
Reduced Intercarotid Artery Distance in Syndromic and Isolated Brachycephaly. 38
29290519 2018
3
Helmet Treatment of Infants With Deformational Brachycephaly. 38
30349871 2018
4
Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly. 38
25686894 2015
5
The foramen magnum in isolated and syndromic brachycephaly. 38
24136083 2014
6
Effectiveness of skull models and surgical simulation: comparison of outcome between different surgical techniques in patients with isolated brachycephaly. 38
19575208 2009

Variations for Isolated Brachycephaly

ClinVar genetic disease variations for Isolated Brachycephaly:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POGZ NM_015100.4(POGZ): c.2771del (p.Pro924fs) deletion Pathogenic rs1553212868 1:151378740-151378740 1:151406264-151406264
2 46;XY;t(11;19)(p11.2;p13.3)dn Translocation Pathogenic
3 complex Pathogenic
4 46;X;t(X;5)(q24;q13)dn Translocation Pathogenic
5 46;XY;t(3;18)(q13.31;q22.1)dn Translocation Pathogenic
6 subset of 27 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29656684-30197341) copy number gain Likely pathogenic 16:29656684-30197341 :0-0
7 AIFM3 ; CRKL ; LZTR1 ; P2RX6 ; PI4KA ; SERPIND1 ; SLC7A4 ; SNAP29 ; THAP7 GRCh37/hg19 22q11.21(chr22: 21081260-21431174) copy number gain Uncertain significance 22:21081260-21431174 :0-0
8 TRHR GRCh37/hg19 8q23.1(chr8: 109990022-110168343) copy number loss Uncertain significance 8:109990022-110168343 :0-0
9 BCOR NM_001123383.1(BCOR): c.4591A> G (p.Thr1531Ala) single nucleotide variant Uncertain significance rs1289349820 X:39914669-39914669 X:40055416-40055416
10 46;XY;t(2;5)(q11.2;q33.1)dn Translocation Uncertain significance
11 CASR NM_000388.4(CASR): c.1609-27C> T single nucleotide variant Uncertain significance 3:122000933-122000933 3:122282086-122282086
12 TRH NM_007117.5(TRH): c.25G> A (p.Ala9Thr) single nucleotide variant Uncertain significance 3:129694684-129694684 3:129975841-129975841

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 ZIC1 TWIST1 FGFR3

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 muscle organ development GO:0007517 8.96 TWIST1 TCF12
2 cell differentiation GO:0030154 8.8 ZIC1 TWIST1 TCF12

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.56 ZIC1 TWIST1 TCF12 POGZ
2 DNA-binding transcription factor activity GO:0003700 9.5 ZIC1 TWIST1 TCF12
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.46 ZIC1 TWIST1 TCF12 POGZ
4 protein dimerization activity GO:0046983 9.37 TWIST1 TCF12
5 E-box binding GO:0070888 8.96 TWIST1 TCF12
6 bHLH transcription factor binding GO:0043425 8.62 TWIST1 TCF12

Sources for Isolated Brachycephaly

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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