MCID: ISL061
MIFTS: 29

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 saethre-chotzen syndrome. An important gene associated with Isolated Brachycephaly is TCF12 (Transcription Factor 12), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include 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 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 8.92 FGFR3 TCF12 TWIST1 ZIC1

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:

40
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 22)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCF12 NM_207037.2(TCF12):c.842C>G (p.Ser281Ter) SNV Pathogenic 55911 rs886037636 15:57524926-57524926 15:57232728-57232728
2 TCF12 NM_207037.2(TCF12):c.1491dup (p.Val498fs) Duplication Pathogenic 55912 rs886037637 15:57554314-57554315 15:57262116-57262117
3 TCF12 NM_207037.2(TCF12):c.722C>G (p.Ser241Ter) SNV Pathogenic 55913 rs398122381 15:57524525-57524525 15:57232327-57232327
4 TCF12 NM_207037.2(TCF12):c.1646del (p.Lys549fs) Deletion Pathogenic 55914 rs886037638 15:57555370-57555370 15:57263172-57263172
5 TCF12 NM_207037.2(TCF12):c.1963G>T (p.Glu655Ter) SNV Pathogenic 55915 rs886037639 15:57565445-57565445 15:57273247-57273247
6 TCF12 NM_207037.2(TCF12):c.1035+3G>C SNV Pathogenic 55916 rs886037640 15:57526308-57526308 15:57234110-57234110
7 TCF12 NM_207037.2(TCF12):c.1912C>G (p.Gln638Glu) SNV Pathogenic 55917 rs886037641 15:57565394-57565394 15:57273196-57273196
8 TCF12 NM_207037.2(TCF12):c.998_999CA[1] (p.Gln334fs) Microsatellite Pathogenic 127269 15:57526268-57526269 15:57234070-57234071
9 TCF12 NM_207037.2(TCF12):c.1071del (p.Ser358fs) Deletion Pathogenic 127270 15:57535705-57535705 15:57243507-57243507
10 TCF12 NM_207037.2(TCF12):c.1366dup (p.Ile456fs) Duplication Pathogenic 127271 15:57545564-57545565 15:57253366-57253367
11 TCF12 NM_207037.2(TCF12):c.1838G>A (p.Arg613His) SNV Pathogenic 127272 15:57565320-57565320 15:57273122-57273122
12 TCF12 NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter) SNV Pathogenic 374377 rs758543580 15:57565358-57565358 15:57273160-57273160
13 TCF12 NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs) Deletion Pathogenic 436958 rs1555412971 15:57555366-57555369 15:57263168-57263171
14 TCF12 NM_207037.2(TCF12):c.786dup (p.Ser263fs) Duplication Pathogenic 692240 rs1597483678 15:57524587-57524588 15:57232389-57232390
15 TCF12 NM_207037.2(TCF12):c.1541C>A (p.Ser514Ter) SNV Pathogenic 930393 15:57554365-57554365 15:57262167-57262167
16 TCF12 NM_207037.2(TCF12):c.1907_1908del (p.Lys636fs) Deletion Pathogenic 984943 15:57565386-57565387 15:57273188-57273189
17 TCF12 NM_207037.2(TCF12):c.1035+5G>A SNV Pathogenic 235692 rs878853094 15:57526310-57526310 15:57234112-57234112
18 TCF12 NM_207037.2(TCF12):c.778_779del (p.Met260fs) Deletion Likely pathogenic 871063 15:57524581-57524582 15:57232383-57232384
19 TCF12 NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln) SNV Likely pathogenic 987901 15:57565290-57565290 15:57273092-57273092
20 TCF12 NM_207037.2(TCF12):c.1837C>T (p.Arg613Cys) SNV Uncertain significance 982695 15:57565319-57565319 15:57273121-57273121
21 TCF12 NM_207037.2(TCF12):c.1720A>C (p.Lys574Gln) SNV Uncertain significance 374376 rs1057518720 15:57555447-57555447 15:57263249-57263249
22 TCF12 NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter) SNV not provided 489259 rs1555409014 15:57543561-57543561 15:57251363-57251363

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 cell differentiation GO:0030154 9.33 ZIC1 TWIST1 TCF12
2 muscle organ development GO:0007517 8.96 TWIST1 TCF12
3 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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 ZIC1 TWIST1 TCF12
2 DNA-binding transcription factor activity GO:0003700 9.33 ZIC1 TWIST1 TCF12
3 protein dimerization activity GO:0046983 9.26 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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