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MCID: ISL061
MIFTS: 31

Isolated Brachycephaly

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Isolated Brachycephaly

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
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
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Summaries for Isolated Brachycephaly

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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

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Related Diseases for Isolated Brachycephaly

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 syndromic craniosynostosis 29.6 TWIST1 FGFR3
2 synostosis 28.9 TWIST1 TCF12 FGFR3
3 saethre-chotzen syndrome 28.9 TWIST1 TCF12 FGFR3
4 craniosynostosis 28.4 ZIC1 TWIST1 TCF12 FGFR3
5 hydrocephalus 10.3
6 testicular spermatocytic seminoma 10.0 PTPN11 FGFR3
7 pectus excavatum 10.0 PTPN11 FGFR3
8 enchondromatosis, multiple, ollier type 9.9 PTPN11 FGFR3
9 protein-losing enteropathy 9.9 PTPN11 FGFR3
10 cherubism 9.9 PTPN11 FGFR3
11 plagiocephaly 9.7 TWIST1 FGFR3
12 muenke syndrome 9.7 TWIST1 FGFR3
13 learning disability 9.7 ZIC1 PTPN11
14 radioulnar synostosis 9.7 TWIST1 FGFR3
15 parietal foramina 9.6 TWIST1 FGFR3
16 crouzon syndrome 9.6 TWIST1 FGFR3
17 sensorineural hearing loss 9.5 PTPN11 POGZ FGFR3
18 bone development disease 9.5 TWIST1 FGFR3
19 hypertelorism 9.5 TWIST1 PTPN11 POGZ
20 chromosome 2q35 duplication syndrome 9.5 TWIST1 FGFR3
21 hypertelorism, microtia, facial clefting syndrome 9.4 TWIST1 PTPN11 FGFR3
22 pfeiffer syndrome 9.4 TWIST1 PTPN11 FGFR3
23 strabismus 9.4 TWIST1 POGZ FGFR3
24 holoprosencephaly 9.3 ZIC1 TWIST1 FGFR3
25 apert syndrome 9.3 TWIST1 TCF12 FGFR3
26 gliosarcoma 9.2 TWIST1 FGFR3
27 isolated plagiocephaly 8.9 ZIC1 TWIST1 TCF12 FGFR3
28 microcephaly 8.7 ZIC1 TWIST1 PTPN11 POGZ FGFR3

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



Diseases related to Isolated Brachycephaly
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Symptoms & Phenotypes for Isolated Brachycephaly

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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 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
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 9.43 FGFR3 POGZ PTPN11 TCF12 TWIST1 ZIC1
2 mortality/aging MP:0010768 9.1 FGFR3 POGZ PTPN11 TCF12 TWIST1 ZIC1
Sources

Drugs & Therapeutics for Isolated Brachycephaly

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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

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Genetic Tests for Isolated Brachycephaly

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Anatomical Context for Isolated Brachycephaly

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MalaCards organs/tissues related to Isolated Brachycephaly:

40
Bone, Eye
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Publications for Isolated Brachycephaly

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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
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Variations for Isolated Brachycephaly

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ClinVar genetic disease variations for Isolated Brachycephaly:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs)deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
2 NCBI36/hg18 9q22.32-22.33(chr9:95946863-99986314)x1copy number loss Pathogenic 694603
3 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)SNV Pathogenic 40513 rs397507520 12:112891083-112891083 12:112453279-112453279
4 46;XY;t(11;19)(p11.2;p13.3)dnTranslocation Pathogenic 267802
5 46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dncomplex Pathogenic 267812
6 46;X;t(X;5)(q24;q13)dnTranslocation Pathogenic 267830
7 46;XY;t(3;18)(q13.31;q22.1)dnTranslocation Pathogenic 268039
8 subset of 27 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29656684-30197341)copy number gain Likely pathogenic 523255 16:29656684-30197341
9 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
10 TRHR GRCh37/hg19 8q23.1(chr8:109990022-110168343)copy number loss Uncertain significance 523291 8:109990022-110168343
11 CASR NM_000388.4(CASR):c.1609-27C>TSNV Uncertain significance 598997 rs4678175 3:122000933-122000933 3:122282086-122282086
12 TRH NM_007117.5(TRH):c.25G>A (p.Ala9Thr)SNV Uncertain significance 598998 rs772388530 3:129694684-129694684 3:129975841-129975841
13 LRP5 NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe)SNV Uncertain significance 805882 11:68170984-68170984 11:68403516-68403516
14 BCOR NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala)SNV Uncertain significance 523408 rs1289349820 X:39914669-39914669 X:40055416-40055416
15 46;XY;t(2;5)(q11.2;q33.1)dnTranslocation Uncertain significance 268027
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Expression for Isolated Brachycephaly

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Search GEO for disease gene expression data for Isolated Brachycephaly.
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Pathways for Isolated Brachycephaly

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

# Super pathways Score Top Affiliating Genes
1
Neural Crest Differentiation 1
10.81 ZIC1 TWIST1 FGFR3
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GO Terms for Isolated Brachycephaly

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.35 ZIC1 TWIST1 TCF12 PTPN11 POGZ
2 nucleus GO:0005634 9.1 ZIC1 TWIST1 TCF12 PTPN11 POGZ FGFR3

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 9.26 TWIST1 TCF12
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.16 PTPN11 FGFR3
3 positive regulation of tumor necrosis factor production GO:0032760 8.96 TWIST1 PTPN11
4 multicellular organism development GO:0007275 8.92 ZIC1 TWIST1 TCF12 FGFR3

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

# Name GO ID Score Top Affiliating Genes
1 E-box binding GO:0070888 8.96 TWIST1 TCF12
2 bHLH transcription factor binding GO:0043425 8.62 TWIST1 TCF12
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Sources for Isolated Brachycephaly

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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