MCID: ISL087
MIFTS: 35

Isolated Oxycephaly

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Oxycephaly

MalaCards integrated aliases for Isolated Oxycephaly:

Name: Isolated Oxycephaly 58
Turricephaly 58 29 6
Acrocephaly 58 6
Hypsicephaly 58
Hypsocephaly 58
Pyrgocephaly 58

Characteristics:

Orphanet epidemiological data:

58
isolated oxycephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q75.0
UMLS via Orphanet 71 C0030044
Orphanet 58 ORPHA63440

Summaries for Isolated Oxycephaly

MalaCards based summary : Isolated Oxycephaly, also known as turricephaly, is related to saethre-chotzen syndrome and syndromic craniosynostosis. An important gene associated with Isolated Oxycephaly is ERF (ETS2 Repressor Factor), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include eye and cerebellum, and related phenotypes are coronal craniosynostosis and oxycephaly

Related Diseases for Isolated Oxycephaly

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



Diseases related to Isolated Oxycephaly

Symptoms & Phenotypes for Isolated Oxycephaly

Human phenotypes related to Isolated Oxycephaly:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coronal craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004440
2 oxycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000263
3 sagittal craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004442
4 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
5 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
6 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
7 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
8 papilledema 58 31 frequent (33%) Frequent (79-30%) HP:0001085
9 lambdoidal craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004443

GenomeRNAi Phenotypes related to Isolated Oxycephaly according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.4 TWIST1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.4 TWIST1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.4 ERF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.4 TWIST1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.4 ERF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.4 TWIST1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.4 ERF
8 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.4 ERF TWIST1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.4 ERF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.4 ERF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.4 TWIST1

Drugs & Therapeutics for Isolated Oxycephaly

Search Clinical Trials , NIH Clinical Center for Isolated Oxycephaly

Genetic Tests for Isolated Oxycephaly

Genetic tests related to Isolated Oxycephaly:

# Genetic test Affiliating Genes
1 Turricephaly 29

Anatomical Context for Isolated Oxycephaly

MalaCards organs/tissues related to Isolated Oxycephaly:

40
Eye, Cerebellum

Publications for Isolated Oxycephaly

Articles related to Isolated Oxycephaly:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Nonsyndromic craniosynostosis: novel coding variants. 6
30651579 2019
2
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. 6
28808027 2017
3
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 6
25271085 2015
4
New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis. 6
26114524 2015
5
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 6
24127277 2013
6
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 6
23354439 2013
7
Coronal craniosynostosis and radial ray hypoplasia: a third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia. 6
22982246 2012
8
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 6
22382802 2012
9
LOVD v.2.0: the next generation in gene variant databases. 6
21520333 2011
10
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. 6
19755431 2010
11
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 6
20643727 2010
12
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 6
19373776 2009
13
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. 6
18391498 2008
14
Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis. 6
17693524 2007
15
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 6
17343269 2007
16
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 6
16251895 2006
17
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 6
15923834 2005
18
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. 6
14513358 2003
19
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. 6
12791045 2003
20
A Twist in fate: evolutionary comparison of Twist structure and function. 6
11992718 2002
21
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. 6
11248247 2001
22
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location. 6
10749989 2000
23
Mutations in the human TWIST gene. 6
10649491 2000
24
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. 6
10094188 1999
25
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. 6
9792856 1998
26
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 6
9585583 1998
27
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 6
8988166 1997
28
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 6
8988167 1997
29
Evolution of Cranioorbital Shape in Nonsyndromic, Muenke, and Saethre-Chotzen Bilateral Coronal Synostosis: A Case-Control Study of 2-Year Outcomes. 61
33370058 2021
30
Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology. 61
32538685 2020
31
Apert syndrome: prenatal diagnosis challenge. 61
31822532 2019
32
Pure Bilateral Lambdoid and Posterior Sagittal Synostosis (Mercedes-Benz Syndrome): Case Report and Literature Review. 61
31009784 2019
33
Evaluation of Endoscopic Strip Craniectomy and Orthotic Therapy for Bilateral Coronal Craniosynostosis. 61
30640858 2019
34
The turricephaly index: A validated method for recording turricephaly and its natural history in Apert syndrome. 61
30683622 2019
35
Craniometric Analysis of Endoscopic Suturectomy for Bilateral Coronal Craniosynostosis. 61
30325899 2019
36
Single-stage Total Cranial Vault Remodeling for Correction of Turricephaly: Description of a New Technique. 61
30324051 2018
37
Posterior cranial vault distraction osteogenesis in craniofacial surgery: Technical note. 61
29030279 2018
38
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation. 61
27774767 2017
39
Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes. 61
26914936 2016
40
Progressive Postnatal Pansynostosis. 61
25350344 2015
41
Progressive postnatal pansynostosis: an insidious and pernicious form of craniosynostosis. 61
26046691 2015
42
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia. 61
25708316 2015
43
A VARIANT CASE OF 6p24 DELETION SYNDROME (OMIM #612582). 61
26349195 2015
44
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. 61
23292994 2013
45
Posterior calvarial distraction in craniosynostosis - an evolving technique. 61
22560871 2012
46
Posterior cranial vault expansion in the treatment of craniosynostosis. Comparison of current techniques. 61
22872270 2012
47
Rhombencephalo-synapsis with turricephaly. 61
23560020 2012
48
Spring-assisted posterior skull expansion without osteotomies. 61
22872271 2012
49
Clinical observation of self-injurious behavior correlated with changes in scalp morphology in a child with congenital hydrocephalus. 61
18827271 2008
50
[The correction of fronto-orbital deformity in infant craniosynostosis--a one year experience]. 61
15623098 2004

Variations for Isolated Oxycephaly

ClinVar genetic disease variations for Isolated Oxycephaly:

6 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TWIST1 NM_000474.4(TWIST1):c.556G>A (p.Ala186Thr) SNV Pathogenic 7985 rs121909190 GRCh37: 7:19156389-19156389
GRCh38: 7:19116766-19116766
2 TWIST1 NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu) SNV Pathogenic 7986 rs121909191 GRCh37: 7:19156382-19156382
GRCh38: 7:19116759-19116759
3 TWIST1 NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro) SNV Pathogenic 476634 rs1554441995 GRCh37: 7:19156550-19156550
GRCh38: 7:19116927-19116927
4 ERF NM_006494.4(ERF):c.733del (p.Leu245fs) Deletion Pathogenic 476628 rs1555750741 GRCh37: 19:42753531-42753531
GRCh38: 19:42249379-42249379
5 ERF NM_006494.4(ERF):c.547C>T (p.Arg183Ter) SNV Pathogenic 55923 rs587777006 GRCh37: 19:42753717-42753717
GRCh38: 19:42249565-42249565
6 ERF NM_006494.4(ERF):c.619C>T (p.Arg207Ter) SNV Pathogenic 476627 rs1555750795 GRCh37: 19:42753645-42753645
GRCh38: 19:42249493-42249493
7 TWIST1 NC_000007.14:g.(?_19116693)_(19117341_?)del Deletion Pathogenic 458685 GRCh37:
GRCh38: 7:19116693-19117341
8 TWIST1 NM_000474.4(TWIST1):c.408dup (p.Thr137fs) Duplication Pathogenic 543076 rs1554441993 GRCh37: 7:19156536-19156537
GRCh38: 7:19116913-19116914
9 TWIST1 NM_000474.4(TWIST1):c.132_142del (p.Ser45fs) Deletion Pathogenic 543077 rs1554442082 GRCh37: 7:19156803-19156813
GRCh38: 7:19117180-19117190
10 overlap with 12 genes GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1 copy number loss Pathogenic 562131 GRCh37: 9:13563537-18491752
GRCh38:
11 overlap with 11 genes GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1 copy number loss Pathogenic 562132 GRCh37: 9:13739630-18023839
GRCh38:
12 TWIST1 NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter) Duplication Pathogenic 567420 rs1563159980 GRCh37: 7:19156526-19156527
GRCh38: 7:19116903-19116904
13 TWIST1 NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) Deletion Pathogenic 573378 rs1563160337 GRCh37: 7:19156834-19156855
GRCh38: 7:19117211-19117232
14 ERF NM_006494.4(ERF):c.-44_22+11del Deletion Pathogenic 583126 rs1568475667 GRCh37: 19:42759119-42759195
GRCh38: 19:42254967-42255043
15 ERF NM_006494.4(ERF):c.223C>T (p.Gln75Ter) SNV Pathogenic 582072 rs1568472771 GRCh37: 19:42754517-42754517
GRCh38: 19:42250365-42250365
16 TWIST1 NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) SNV Pathogenic 7977 rs121909188 GRCh37: 7:19156569-19156569
GRCh38: 7:19116946-19116946
17 TWIST1 NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs) Duplication Pathogenic 642695 rs1585617865 GRCh37: 7:19156869-19156870
GRCh38: 7:19117246-19117247
18 TWIST1 NM_000474.4(TWIST1):c.197del (p.Pro66fs) Deletion Pathogenic 645450 rs1585617611 GRCh37: 7:19156748-19156748
GRCh38: 7:19117125-19117125
19 TWIST1 NM_000474.4(TWIST1):c.277dup (p.Ser93fs) Duplication Pathogenic 648741 rs1585617402 GRCh37: 7:19156667-19156668
GRCh38: 7:19117044-19117045
20 TWIST1 NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys) SNV Pathogenic 652940 rs1233220987 GRCh37: 7:19156587-19156587
GRCh38: 7:19116964-19116964
21 TWIST1 NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter) SNV Pathogenic 802300 rs104894054 GRCh37: 7:19156636-19156636
GRCh38: 7:19117013-19117013
22 TWIST1 NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter) SNV Pathogenic 7984 rs104894065 GRCh37: 7:19156734-19156734
GRCh38: 7:19117111-19117111
23 ERF NM_006494.4(ERF):c.144G>A (p.Trp48Ter) SNV Pathogenic 936483 GRCh37: 19:42754596-42754596
GRCh38: 19:42250444-42250444
24 ERF NM_006494.4(ERF):c.427del (p.Arg143fs) Deletion Pathogenic 964211 GRCh37: 19:42753837-42753837
GRCh38: 19:42249685-42249685
25 TWIST1 NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu) SNV Pathogenic 970861 GRCh37: 7:19156512-19156512
GRCh38: 7:19116889-19116889
26 TWIST1 NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg) SNV Pathogenic 835124 GRCh37: 7:19156499-19156499
GRCh38: 7:19116876-19116876
27 ERF NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer) Deletion Pathogenic 543070 rs1555750816 GRCh37: 19:42753697-42753698
GRCh38: 19:42249545-42249546
28 TWIST1 NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) SNV Pathogenic 575739 rs1563160116 GRCh37: 7:19156644-19156644
GRCh38: 7:19117021-19117021
29 TWIST1 NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup) Duplication Pathogenic 543075 rs1554441991 GRCh37: 7:19156528-19156529
GRCh38: 7:19116905-19116906
30 ERF NM_006494.4(ERF):c.256C>T (p.Arg86Cys) SNV Pathogenic 55925 rs587777008 GRCh37: 19:42754484-42754484
GRCh38: 19:42250332-42250332
31 TWIST1 NM_000474.4(TWIST1):c.321dup (p.Thr108fs) Duplication Pathogenic 973874 GRCh37: 7:19156623-19156624
GRCh38: 7:19117000-19117001
32 TWIST1 NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile) SNV Likely pathogenic 942829 GRCh37: 7:19156502-19156502
GRCh38: 7:19116879-19116879
33 ERF NM_006494.4(ERF):c.891_892del (p.Gly299fs) Deletion Likely pathogenic 55924 rs587777007 GRCh37: 19:42753372-42753373
GRCh38: 19:42249220-42249221
34 TWIST1 NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) SNV Likely pathogenic 426307 rs1085307555 GRCh37: 7:19156616-19156616
GRCh38: 7:19116993-19116993
35 TWIST1 NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) SNV Likely pathogenic 543078 rs1554442019 GRCh37: 7:19156599-19156599
GRCh38: 7:19116976-19116976
36 TWIST1 NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe) SNV Uncertain significance 568616 rs867957820 GRCh37: 7:19156458-19156458
GRCh38: 7:19116835-19116835
37 TWIST1 NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp) SNV Uncertain significance 643790 rs1585617188 GRCh37: 7:19156617-19156617
GRCh38: 7:19116994-19116994
38 TWIST1 NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn) SNV Uncertain significance 583158 rs1051003265 GRCh37: 7:19156742-19156742
GRCh38: 7:19117119-19117119
39 TWIST1 NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala) SNV Uncertain significance 574126 rs559821440 GRCh37: 7:19156875-19156875
GRCh38: 7:19117252-19117252
40 TWIST1 NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del) Deletion Uncertain significance 476633 rs1554441992 GRCh37: 7:19156530-19156550
GRCh38: 7:19116907-19116927
41 ERF NM_006494.4(ERF):c.208C>T (p.Arg70Cys) SNV Uncertain significance 543068 rs756869919 GRCh37: 19:42754532-42754532
GRCh38: 19:42250380-42250380
42 ERF NM_006494.4(ERF):c.1243_1245del (p.Ala415del) Deletion Uncertain significance 543069 rs759202471 GRCh37: 19:42753019-42753021
GRCh38: 19:42248867-42248869
43 TWIST1 NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr) SNV Uncertain significance 543073 rs1554442021 GRCh37: 7:19156604-19156604
GRCh38: 7:19116981-19116981
44 TWIST1 NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser) SNV Uncertain significance 543074 rs1554441944 GRCh37: 7:19156385-19156385
GRCh38: 7:19116762-19116762
45 TWIST1 NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu) SNV Uncertain significance 476635 rs1554441982 GRCh37: 7:19156490-19156490
GRCh38: 7:19116867-19116867
46 KAT6B NM_012330.4(KAT6B):c.3154_3169del (p.Arg1052fs) Deletion Uncertain significance 374242 rs1057519003 GRCh37: 10:76781771-76781786
GRCh38: 10:75022013-75022028
47 TWIST1 NM_000474.4(TWIST1):c.405C>G (p.Ile135Met) SNV Uncertain significance 1000485 GRCh37: 7:19156540-19156540
GRCh38: 7:19116917-19116917
48 TWIST1 NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr) SNV Uncertain significance 1010080 GRCh37: 7:19156508-19156508
GRCh38: 7:19116885-19116885
49 ERF NM_006494.4(ERF):c.257G>A (p.Arg86His) SNV Uncertain significance 946328 GRCh37: 19:42754483-42754483
GRCh38: 19:42250331-42250331
50 TWIST1 NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup) Duplication Uncertain significance 931885 GRCh37: 7:19156539-19156540
GRCh38: 7:19116916-19116917

Expression for Isolated Oxycephaly

Search GEO for disease gene expression data for Isolated Oxycephaly.

Pathways for Isolated Oxycephaly

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

# Super pathways Score Top Affiliating Genes
1 10.63 ZIC1 TWIST1

GO Terms for Isolated Oxycephaly

Biological processes related to Isolated Oxycephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.13 ZIC1 TWIST1 ERF
2 cell differentiation GO:0030154 8.8 ZIC1 TWIST1 ERF

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.33 ZIC1 TWIST1 ERF
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.13 ZIC1 TWIST1 ERF
3 DNA-binding transcription factor activity GO:0003700 8.8 ZIC1 TWIST1 ERF

Sources for Isolated Oxycephaly

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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