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 56
Turricephaly 56 29
Hypsicephaly 56
Hypsocephaly 56
Pyrgocephaly 56
Acrocephaly 56

Characteristics:

Orphanet epidemiological data:

56
isolated oxycephaly
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA63440
UMLS via Orphanet 70 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 apert 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 13)
id Related Disease Score Top Affiliating Genes
1 polymicrogyria turricephaly hypogenitalism 11.9
2 apert syndrome 11.4
3 carpenter syndrome 11.0
4 saethre-chotzen syndrome 11.0
5 craniofacial dyssynostosis 10.8
6 gorlin-chaudhry-moss syndrome 10.8
7 kaplan plauchu fitch syndrome 10.7
8 osteoglophonic dysplasia 10.7
9 gracile bone dysplasia 10.7
10 summitt syndrome 10.7
11 acrocephalopolydactylous dysplasia 10.7
12 acrocephalopolysyndactyly type iv 10.7
13 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:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oxycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000263
2 papilledema 56 32 frequent (33%) Frequent (79-30%) HP:0001085
3 arnold-chiari malformation 56 32 frequent (33%) Frequent (79-30%) HP:0002308
4 intellectual disability, moderate 56 32 frequent (33%) Frequent (79-30%) HP:0002342
5 increased intracranial pressure 56 32 frequent (33%) Frequent (79-30%) HP:0002516
6 coronal craniosynostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004440
7 sagittal craniosynostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004442
8 lambdoidal craniosynostosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004443
9 intellectual disability, severe 56 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:

id Genetic test Affiliating Genes
1 Turricephaly 29

Anatomical Context for Isolated Oxycephaly

MalaCards organs/tissues related to Isolated Oxycephaly:

39
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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