MCID: ISL087
MIFTS: 23

Isolated Oxycephaly

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

Aliases & Classifications for Isolated Oxycephaly

MalaCards integrated aliases for Isolated Oxycephaly:

Name: Isolated Oxycephaly 55
Turricephaly 55 28
Hypsicephaly 55
Hypsocephaly 55
Pyrgocephaly 55
Acrocephaly 55

Characteristics:

Orphanet epidemiological data:

55
isolated oxycephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 55 ORPHA63440
UMLS via Orphanet 70 C0030044
ICD10 via Orphanet 33 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, and has symptoms including oxycephaly, papilledema and arnold-chiari malformation. An important gene associated with Isolated Oxycephaly is ZIC1 (Zic Family Member 1). Affiliated tissues include bone and eye.

Related Diseases for Isolated Oxycephaly

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 polymicrogyria turricephaly hypogenitalism 11.9
2 saethre-chotzen syndrome 11.2
3 carpenter syndrome 1 11.1
4 gorlin-chaudhry-moss syndrome 11.0
5 craniofacial dyssynostosis 11.0
6 acrocephalopolydactylous dysplasia 10.9
7 acrocephalopolysyndactyly type iv 10.9
8 summitt syndrome 10.9
9 gracile bone dysplasia 10.9
10 kaplan plauchu fitch syndrome 10.9
11 apert syndrome 10.9
12 osteoglophonic dysplasia 10.9
13 chromosome 2q35 duplication syndrome 9.9
14 encephalocele 9.9

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:

55 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oxycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000263
2 papilledema 55 31 frequent (33%) Frequent (79-30%) HP:0001085
3 arnold-chiari malformation 55 31 frequent (33%) Frequent (79-30%) HP:0002308
4 intellectual disability, moderate 55 31 frequent (33%) Frequent (79-30%) HP:0002342
5 increased intracranial pressure 55 31 frequent (33%) Frequent (79-30%) HP:0002516
6 coronal craniosynostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004440
7 sagittal craniosynostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004442
8 lambdoidal craniosynostosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004443
9 intellectual disability, severe 55 31 frequent (33%) Frequent (79-30%) HP:0010864

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 28

Anatomical Context for Isolated Oxycephaly

MalaCards organs/tissues related to Isolated Oxycephaly:

38
Bone, Eye

Publications for Isolated Oxycephaly

Articles related to Isolated Oxycephaly:

# Title Authors Year
1
Orbital encephalocele associated with acrocephaly. ( 14904873 )
1952
2
Acrocephaly-syndactyly. ( 21065302 )
1946

Variations for Isolated Oxycephaly

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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