MCID: ISL061
MIFTS: 26

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:

Orphanet 59 ORPHA35099
UMLS via Orphanet 74 C0221356
ICD10 via Orphanet 34 Q75.0

Summaries for Isolated Brachycephaly

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 hypertelorism and intellectual disability

Related Diseases for Isolated Brachycephaly

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 30.1 FGFR3 TCF12 TWIST1
2 plagiocephaly 10.0 FGFR3 TWIST1
3 apert syndrome 10.0 FGFR3 TWIST1
4 muenke syndrome 10.0 FGFR3 TWIST1
5 hypertelorism 10.0 POGZ TWIST1
6 saethre-chotzen syndrome 9.9 FGFR3 TWIST1
7 pfeiffer syndrome 9.9 FGFR3 TWIST1
8 gliosarcoma 9.9 FGFR3 TWIST1
9 visual epilepsy 9.8 FGFR3 POGZ
10 strabismus 9.8 FGFR3 POGZ TWIST1
11 isolated plagiocephaly 9.5 FGFR3 TCF12 TWIST1 ZIC1
12 craniosynostosis 9.5 FGFR3 TCF12 TWIST1 ZIC1

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 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
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 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
6 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
7 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
8 midface retrusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0011800
9 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
10 underdeveloped supraorbital ridges 59 32 frequent (33%) Frequent (79-30%) HP:0009891
11 metacarpal synostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0009701

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:

41
Bone, Eye

Publications for Isolated Brachycephaly

Variations for Isolated Brachycephaly

ClinVar genetic disease variations for Isolated Brachycephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic GRCh37 Chromosome 1, 151378740: 151378740
2 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic GRCh38 Chromosome 1, 151406264: 151406264
3 BCOR NM_001123385.1(BCOR): c.4693A> G (p.Thr1565Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 40055416: 40055416
4 BCOR NM_001123385.1(BCOR): c.4693A> G (p.Thr1565Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 39914669: 39914669
5 subset of 27 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29656684-30197341) copy number gain Likely pathogenic GRCh37 Chromosome 16, 29656684: 30197341
6 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
7 TRHR GRCh37/hg19 8q23.1(chr8: 109990022-110168343) copy number loss Uncertain significance GRCh37 Chromosome 8, 109990022: 110168343

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 FGFR3 TWIST1 ZIC1

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 TCF12 TWIST1
2 cell differentiation GO:0030154 8.92 FGFR3 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

Sources for Isolated Brachycephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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