MCID: ACQ050
MIFTS: 19

Acquired Schizencephaly

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

Aliases & Classifications for Acquired Schizencephaly

MalaCards integrated aliases for Acquired Schizencephaly:

Name: Acquired Schizencephaly 60

Classifications:



External Ids:

Orphanet 60 ORPHA485275

Summaries for Acquired Schizencephaly

MalaCards based summary : Acquired Schizencephaly is related to septopreoptic holoprosencephaly and holoprosencephaly. An important gene associated with Acquired Schizencephaly is SHH (Sonic Hedgehog Signaling Molecule). Affiliated tissues include eye, and 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 14)
# Related Disease Score Top Affiliating Genes
1 septopreoptic holoprosencephaly 9.8 SHH SIX3
2 holoprosencephaly 9.8 SHH SIX3
3 midline interhemispheric variant of holoprosencephaly 9.8 SHH SIX3
4 alobar holoprosencephaly 9.8 SHH SIX3
5 lobar holoprosencephaly 9.7 SHH SIX3
6 microform holoprosencephaly 9.7 SHH SIX3
7 chromosome 18p deletion syndrome 9.7 SHH SIX3
8 band heterotopia 9.7 EMX2 SIX3
9 holoprosencephaly 1 9.7 SHH SIX3
10 semilobar holoprosencephaly 9.7 SHH SIX3
11 congenital nervous system abnormality 9.6 SHH SIX3
12 physical disorder 9.6 SHH SIX3
13 periventricular nodular heterotopia 9.5 EMX2 SIX3
14 schizencephaly 9.5 EMX2 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:

47
# 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

MalaCards organs/tissues related to Acquired Schizencephaly:

42
Eye

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 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.67 EMX2 SHH SIX3
2 multicellular organism development GO:0007275 9.63 EMX2 SHH SIX3
3 brain development GO:0007420 9.52 EMX2 SIX3
4 regulation of gene expression GO:0010468 9.51 EMX2 SHH
5 regulation of cell proliferation GO:0042127 9.48 SHH SIX3
6 anterior/posterior pattern specification GO:0009952 9.43 EMX2 SHH
7 forebrain development GO:0030900 9.4 EMX2 SHH
8 camera-type eye development GO:0043010 9.37 SHH SIX3
9 negative regulation of Wnt signaling pathway GO:0030178 9.32 SHH SIX3
10 anatomical structure development GO:0048856 9.26 SHH SIX3
11 cell proliferation in forebrain GO:0021846 8.96 EMX2 SIX3
12 renal system development GO:0072001 8.85 SHH
13 telencephalon regionalization GO:0021978 8.62 SHH SIX3

Sources for Acquired Schizencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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