MCID: ACQ050
MIFTS: 17

Acquired Schizencephaly

Categories: Neuronal diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Acquired Schizencephaly

MalaCards integrated aliases for Acquired Schizencephaly:

Name: Acquired Schizencephaly 59

Classifications:



External Ids:

Orphanet 59 ORPHA485275

Summaries for Acquired Schizencephaly

MalaCards based summary : Acquired Schizencephaly is related to septopreoptic holoprosencephaly and midline interhemispheric variant of holoprosencephaly. An important gene associated with Acquired Schizencephaly is SIX3 (SIX Homeobox 3). Related phenotypes are craniofacial and embryo

Related Diseases for Acquired Schizencephaly

Diseases in the Schizencephaly family:

Acquired Schizencephaly

Diseases related to Acquired Schizencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 septopreoptic holoprosencephaly 9.5 SHH SIX3
2 midline interhemispheric variant of holoprosencephaly 9.5 SHH SIX3
3 alobar holoprosencephaly 9.5 SHH SIX3
4 lobar holoprosencephaly 9.5 SHH SIX3
5 chromosome 18p deletion syndrome 9.5 SHH SIX3
6 periventricular nodular heterotopia 9.5 EMX2 SIX3
7 microform holoprosencephaly 9.4 SHH SIX3
8 holoprosencephaly 1 9.4 SHH SIX3
9 semilobar holoprosencephaly 9.4 SHH SIX3
10 congenital nervous system abnormality 9.3 SHH SIX3
11 physical disorder 9.2 SHH SIX3
12 schizencephaly 8.9 EMX2 SHH SIX3
13 holoprosencephaly 8.9 SHH SIX3

Graphical network of the top 20 diseases related to Acquired Schizencephaly:



Diseases related to Acquired Schizencephaly

Symptoms & Phenotypes for Acquired Schizencephaly

MGI Mouse Phenotypes related to Acquired Schizencephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.54 EMX2 SHH SIX3
2 embryo MP:0005380 9.5 EMX2 SHH SIX3
3 respiratory system MP:0005388 9.43 EMX2 SHH SIX3
4 skeleton MP:0005390 9.33 EMX2 SHH SIX3
5 taste/olfaction MP:0005394 9.13 EMX2 SHH SIX3
6 vision/eye MP:0005391 8.8 EMX2 SHH SIX3

Drugs & Therapeutics for Acquired Schizencephaly

Search Clinical Trials , NIH Clinical Center for Acquired Schizencephaly

Genetic Tests for Acquired Schizencephaly

Anatomical Context for Acquired Schizencephaly

Publications for Acquired Schizencephaly

Variations for Acquired Schizencephaly

Expression for Acquired Schizencephaly

Search GEO for disease gene expression data for Acquired Schizencephaly.

Pathways for Acquired Schizencephaly

GO Terms for Acquired Schizencephaly

Biological processes related to Acquired Schizencephaly according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.61 EMX2 SHH SIX3
2 regulation of cell proliferation GO:0042127 9.49 SHH SIX3
3 brain development GO:0007420 9.48 EMX2 SIX3
4 regulation of gene expression GO:0010468 9.46 EMX2 SHH
5 anterior/posterior pattern specification GO:0009952 9.4 EMX2 SHH
6 forebrain development GO:0030900 9.37 EMX2 SHH
7 camera-type eye development GO:0043010 9.32 SHH SIX3
8 negative regulation of Wnt signaling pathway GO:0030178 9.26 SHH SIX3
9 renal system development GO:0072001 9.16 EMX2 SHH
10 cell proliferation in forebrain GO:0021846 8.96 EMX2 SIX3
11 telencephalon regionalization GO:0021978 8.62 SHH SIX3

Sources for Acquired Schizencephaly

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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