Isolated Brachycephaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of skull and face bones

Craniosynostosis

Orphanet: ⁵⁹

Rare eye diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁹ ORPHA35099

UMLS via Orphanet ⁷⁴ C0221356

ICD10 via Orphanet ³⁴ Q75.0

SNOMED-CT via HPO ⁶⁹ 13649004 194021007 22006008 more

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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

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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:

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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

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Drugs & Therapeutics for Isolated Brachycephaly

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

MalaCards organs/tissues related to Isolated Brachycephaly:

⁴¹

Bone, Eye

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Publications for Isolated Brachycephaly

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Genes for Isolated Brachycephaly

Genes related to Isolated Brachycephaly (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	POGZ	Pogo Transposable Element Derived With ZNF Domain	Protein Coding	400	Pathogenic ⁶
2	TWIST1	Twist Family BHLH Transcription Factor 1	Protein Coding	350	Causative germline mutation ⁵⁹
3	TCF12	Transcription Factor 12	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
4	ZIC1	Zic Family Member 1	Protein Coding	350	Causative germline mutation (gain of function) ⁵⁹
5	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	350	Causative germline mutation ⁵⁹

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Variations for Isolated Brachycephaly

ClinVar genetic disease variations for Isolated Brachycephaly:

⁶

#	Gene	Variation	Type	Significance	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

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Expression for Isolated Brachycephaly

Search GEO for disease gene expression data for Isolated Brachycephaly.

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Pathways for Isolated Brachycephaly

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

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

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Sources for Isolated Brachycephaly

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia