MCID: ISL087
MIFTS: 24

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 59
Turricephaly 59 29 6
Hypsicephaly 59
Hypsocephaly 59
Pyrgocephaly 59
Acrocephaly 59

Characteristics:

Orphanet epidemiological data:

59
isolated oxycephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA63440
UMLS via Orphanet 74 C0030044
ICD10 via Orphanet 34 Q75.0

Summaries for Isolated Oxycephaly

MalaCards based summary : Isolated Oxycephaly, also known as turricephaly, is related to polymicrogyria turricephaly hypogenitalism and saethre-chotzen syndrome. An important gene associated with Isolated Oxycephaly is ZIC1 (Zic Family Member 1). Affiliated tissues include bone and eye, and related phenotypes are increased intracranial pressure and intellectual disability, severe

Related Diseases for Isolated Oxycephaly

Diseases related to Isolated Oxycephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 polymicrogyria turricephaly hypogenitalism 12.1
2 saethre-chotzen syndrome 11.3
3 carpenter syndrome 1 11.2
4 fontaine progeroid syndrome 11.1
5 craniofacial dyssynostosis 11.1
6 apert syndrome 11.0
7 osteoglophonic dysplasia 11.0
8 acrocephalopolydactylous dysplasia 11.0
9 acrocephalopolysyndactyly type iv 11.0
10 summitt syndrome 11.0
11 gracile bone dysplasia 11.0
12 kaplan plauchu fitch syndrome 11.0
13 thrombosis 10.1
14 intracranial thrombosis 10.1
15 albinism 10.1
16 encephalocele 10.1

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:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased intracranial pressure 59 32 frequent (33%) Frequent (79-30%) HP:0002516
2 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
3 intellectual disability, moderate 59 32 frequent (33%) Frequent (79-30%) HP:0002342
4 coronal craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004440
5 arnold-chiari malformation 59 32 frequent (33%) Frequent (79-30%) HP:0002308
6 papilledema 59 32 frequent (33%) Frequent (79-30%) HP:0001085
7 sagittal craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004442
8 oxycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000263
9 lambdoidal craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004443

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:

41
Bone, Eye

Publications for Isolated Oxycephaly

Articles related to Isolated Oxycephaly:

# Title Authors Year
1
Single-stage Total Cranial Vault Remodeling for Correction of Turricephaly: Description of a New Technique. ( 30324051 )
2018
2
Rhombencephalo-synapsis with turricephaly. ( 23560020 )
2012
3
Management of secondary turricephaly in craniofacial surgery. ( 9118135 )
1996
4
T-bone plastique for treatment of brachy-turricephaly. ( 8460563 )
1993
5
Turricephaly. ( 6783558 )
1980
6
Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet. ( 437771 )
1979

Variations for Isolated Oxycephaly

ClinVar genetic disease variations for Isolated Oxycephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 covers 12 genes, none of which curated to show dosage sensitivity GRCh37/hg19 9p23-22.2(chr9: 13563537-18491752)x1 copy number loss Pathogenic GRCh37 Chromosome 9, 13563537: 18491752
2 covers 11 genes, none of which curated to show dosage sensitivity GRCh37/hg19 9p23-22.2(chr9: 13739630-18023839)x1 copy number loss Pathogenic GRCh37 Chromosome 9, 13739630: 18023839

Expression for Isolated Oxycephaly

Search GEO for disease gene expression data for Isolated Oxycephaly.

Pathways for Isolated Oxycephaly

GO Terms for Isolated Oxycephaly

Sources for Isolated Oxycephaly

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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