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MCID: ISL061
MIFTS: 24

Isolated Brachycephaly

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases 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 60
Non-Syndromic Bicoronal Synostosis 60

Characteristics:

Orphanet epidemiological data:

60
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: 35
Orphanet: 60  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 35 Q75.0
UMLS via Orphanet 75 C0221356
Orphanet 60 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 synostosis and plagiocephaly. 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 12)
# Related Disease Score Top Affiliating Genes
1 synostosis 29.9 FGFR3 TCF12 TWIST1
2 plagiocephaly 10.0 FGFR3 TWIST1
3 apert syndrome 9.9 FGFR3 TWIST1
4 muenke syndrome 9.9 FGFR3 TWIST1
5 hypertelorism 9.9 POGZ TWIST1
6 saethre-chotzen syndrome 9.9 FGFR3 TWIST1
7 pfeiffer syndrome 9.8 FGFR3 TWIST1
8 gliosarcoma 9.8 FGFR3 TWIST1
9 visual epilepsy 9.7 FGFR3 POGZ
10 strabismus 9.7 FGFR3 POGZ TWIST1
11 isolated plagiocephaly 9.2 FGFR3 TCF12 TWIST1 ZIC1
12 craniosynostosis 9.1 FGFR3 TCF12 TWIST1 ZIC1

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:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
2 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
3 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
4 increased intracranial pressure 60 33 frequent (33%) Frequent (79-30%) HP:0002516
5 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
6 underdeveloped supraorbital ridges 60 33 frequent (33%) Frequent (79-30%) HP:0009891
7 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
8 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
9 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
10 midface retrusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0011800
11 metacarpal synostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0009701
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Drugs & Therapeutics for Isolated Brachycephaly

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Search Clinical Trials , 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:

42
Bone, Eye
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Publications for Isolated Brachycephaly

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Variations for Isolated Brachycephaly

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ClinVar genetic disease variations for Isolated Brachycephaly:

6 (show all 16)
# 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(2;5)(q11.2;q33.1)dn Translocation Uncertain significance
5 46;XY;t(3;18)(q13.31;q22.1)dn Translocation Pathogenic
6 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic rs1553212868 GRCh37 Chromosome 1, 151378740: 151378740
7 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic rs1553212868 GRCh38 Chromosome 1, 151406264: 151406264
8 BCOR NM_001123385.1(BCOR): c.4693A> G (p.Thr1565Ala) single nucleotide variant Uncertain significance rs1289349820 GRCh38 Chromosome X, 40055416: 40055416
9 BCOR NM_001123385.1(BCOR): c.4693A> G (p.Thr1565Ala) single nucleotide variant Uncertain significance rs1289349820 GRCh37 Chromosome X, 39914669: 39914669
10 subset of 27 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29656684-30197341) copy number gain Likely pathogenic GRCh37 Chromosome 16, 29656684: 30197341
11 AIFM3; CRKL; LZTR1; P2RX6; PI4KA; SERPIND1; SLC7A4; SNAP29; THAP7 GRCh37/hg19 22q11.21(chr22: 21081260-21431174) copy number gain Uncertain significance GRCh37 Chromosome 22, 21081260: 21431174
12 TRHR GRCh37/hg19 8q23.1(chr8: 109990022-110168343) copy number loss Uncertain significance GRCh37 Chromosome 8, 109990022: 110168343
13 CASR NM_001178065.1(CASR): c.1612C> T (p.Leu538Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 122000933: 122000933
14 CASR NM_001178065.1(CASR): c.1612C> T (p.Leu538Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 122282086: 122282086
15 TRH NM_007117.5(TRH): c.25G> A (p.Ala9Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 129694684: 129694684
16 TRH NM_007117.5(TRH): c.25G> A (p.Ala9Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 129975841: 129975841
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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 FGFR3 TWIST1 ZIC1
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GO Terms for Isolated Brachycephaly

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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 TCF12 TWIST1
2 cell differentiation GO:0030154 8.8 TCF12 TWIST1 ZIC1

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 POGZ TCF12 TWIST1 ZIC1
2 DNA-binding transcription factor activity GO:0003700 9.5 TCF12 TWIST1 ZIC1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.46 POGZ TCF12 TWIST1 ZIC1
4 protein dimerization activity GO:0046983 9.37 TCF12 TWIST1
5 E-box binding GO:0070888 8.96 TCF12 TWIST1
6 bHLH transcription factor binding GO:0043425 8.62 TCF12 TWIST1
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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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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