MCID: ISL087
MIFTS: 21

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 59
Turricephaly 59 29
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 oxycephaly and papilledema

Related Diseases for Isolated Oxycephaly

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

(show all 13)
# 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 fontaine progeroid syndrome 11.0
5 craniofacial dyssynostosis 11.0
6 kaplan plauchu fitch syndrome 10.8
7 apert syndrome 10.8
8 osteoglophonic dysplasia 10.8
9 acrocephalopolydactylous dysplasia 10.8
10 acrocephalopolysyndactyly type iv 10.8
11 summitt syndrome 10.8
12 gracile bone dysplasia 10.8
13 encephalocele 10.0

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

Anatomical Context for Isolated Oxycephaly

MalaCards organs/tissues related to Isolated Oxycephaly:

41
Bone, Eye

Publications for Isolated Oxycephaly

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
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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