MCID: ISL061
MIFTS: 31

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 58
Non-Syndromic Bicoronal Synostosis 58

Characteristics:

Orphanet epidemiological data:

58
isolated brachycephaly
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 72 C0221356
Orphanet 58 ORPHA35099

Summaries for Isolated Brachycephaly

MalaCards based summary : Isolated Brachycephaly, also known as non-syndromic bicoronal synostosis, is related to syndromic craniosynostosis 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

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:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
2 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
3 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
4 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
5 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
6 underdeveloped supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0009891
7 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
8 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
9 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
10 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
11 metacarpal synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0009701

MGI Mouse Phenotypes related to Isolated Brachycephaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.35 FGFR3 POGZ TCF12 TWIST1 ZIC1
2 mortality/aging MP:0010768 9.02 FGFR3 POGZ TCF12 TWIST1 ZIC1

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:

40
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. 6
23354436 2013
2
What remains of non-syndromic bicoronal synostosis? 61
31525394 2019
3
Reduced Intercarotid Artery Distance in Syndromic and Isolated Brachycephaly. 61
29290519 2018
4
Helmet Treatment of Infants With Deformational Brachycephaly. 61
30349871 2018
5
Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly. 61
25686894 2015
6
The foramen magnum in isolated and syndromic brachycephaly. 61
24136083 2014
7
Effectiveness of skull models and surgical simulation: comparison of outcome between different surgical techniques in patients with isolated brachycephaly. 61
19575208 2009

Variations for Isolated Brachycephaly

ClinVar genetic disease variations for Isolated Brachycephaly:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(11;19)(p11.2;p13.3)dnTranslocation Pathogenic 267802
2 46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dncomplex Pathogenic 267812
3 46;X;t(X;5)(q24;q13)dnTranslocation Pathogenic 267830
4 46;XY;t(3;18)(q13.31;q22.1)dnTranslocation Pathogenic 268039
5 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs)deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
6 subset of 27 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29656684-30197341)copy number gain Likely pathogenic 523255 16:29656684-30197341
7 AIFM3 , CRKL , LZTR1 , P2RX6 , PI4KA , SERPIND1 , SLC7A4 , SNAP29 , THAP7 GRCh37/hg19 22q11.21(chr22:21081260-21431174)copy number gain Uncertain significance 523275 22:21081260-21431174
8 TRHR GRCh37/hg19 8q23.1(chr8:109990022-110168343)copy number loss Uncertain significance 523291 8:109990022-110168343
9 CASR NM_000388.4(CASR):c.1609-27C>TSNV Uncertain significance 598997 3:122000933-122000933 3:122282086-122282086
10 TRH NM_007117.5(TRH):c.25G>A (p.Ala9Thr)SNV Uncertain significance 598998 3:129694684-129694684 3:129975841-129975841
11 46;XY;t(2;5)(q11.2;q33.1)dnTranslocation Uncertain significance 268027
12 BCOR NM_001123383.1(BCOR):c.4591A>G (p.Thr1531Ala)SNV Uncertain significance 523408 rs1289349820 X:39914669-39914669 X:40055416-40055416

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

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.8 TWIST1 TCF12 POGZ

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

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.13 ZIC1 TWIST1 TCF12
2 muscle organ development GO:0007517 8.62 TWIST1 TCF12

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, RNA polymerase II-specific GO:0000981 9.5 ZIC1 TWIST1 TCF12
2 DNA binding GO:0003677 9.46 ZIC1 TWIST1 TCF12 POGZ
3 DNA-binding transcription factor activity GO:0003700 9.43 ZIC1 TWIST1 TCF12
4 E-box binding GO:0070888 8.96 TWIST1 TCF12
5 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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