SCHZC
MCID: SCH018
MIFTS: 52

Schizencephaly (SCHZC) malady

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

Aliases & Classifications for Schizencephaly

Aliases & Descriptions for Schizencephaly:

Name: Schizencephaly 54 50 51 56 66 29 13 52 69
Familial Schizencephaly 50 24 56 69
Schzc 66

Characteristics:

Orphanet epidemiological data:

56
schizencephaly
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:



External Ids:

OMIM 54 269160
ICD10 via Orphanet 34 Q04.6
MedGen 40 C0266484

Summaries for Schizencephaly

OMIM : 54 Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a... (269160) more...

MalaCards based summary : Schizencephaly, also known as familial schizencephaly, is related to familial schizencephaly, shh-related and familial schizencephaly, emx2-related, and has symptoms including seizures, hemiparesis and intellectual disability. An important gene associated with Schizencephaly is SIX3 (SIX Homeobox 3), and among its related pathways/superpathways are Ectoderm Differentiation and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include brain, spinal cord and cortex, and related phenotypes are growth/size/body region and mortality/aging

NIH Rare Diseases : 50 schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. the signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors. treatment generally consists of physical therapy and drugs to prevent seizures. in cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed. last updated: 11/17/2014

NINDS : 51 Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain.  Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication.  Individuals with clefts in only one hemisphere (called unilateral clefts) are often paralyzed on one side of the body, but may have average to near-average intelligence.  Individuals with schizencephaly may also have an abnormally small head, cognitive delay and impairment, partial or complete paralysis, or poor muscle tone.  Most will experience seizures.  Some individuals may have an excessive accumulation of fluid in the brain called hydrocephalus. 

UniProtKB/Swiss-Prot : 66 Schizencephaly: Extremely rare human congenital disorder characterized by a full- thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.

Wikipedia : 71 Schizencephaly (from Greek skhizein, meaning \'to split\', and enkephalos, meaning \'brain\') is a rare... more...

Related Diseases for Schizencephaly

Diseases in the Schizencephaly family:

Familial Schizencephaly, Emx2-Related Familial Schizencephaly, Shh-Related
Familial Schizencephaly, Six3-Related

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

(show top 50) (show all 97)
id Related Disease Score Top Affiliating Genes
1 familial schizencephaly, shh-related 11.9
2 familial schizencephaly, emx2-related 11.8
3 familial schizencephaly, six3-related 11.8
4 corpus callosum agenesis 11.3
5 neuronal migration disorders 10.8
6 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.8
7 silengo lerone pelizza syndrome 10.8
8 spastic quadriplegia 10.3 COL4A1 SIX3
9 cervical adenitis 10.3 COL4A1 SIX3
10 acoustic neuroma 10.3 EMX2 SIX3
11 mixed cerebral palsy 10.2 F5 SIX3
12 hyperostosis 10.1 MTHFR SIX3
13 multiple familial trichoepithelioma 10.1 F5 MTHFR
14 absence of innominate vein 10.1 F5 MTHFR
15 aminoaciduria 10.1 F5 MTHFR
16 vascular erectile tumor 10.1 F5 MTHFR
17 lubinsky syndrome 10.1 F5 MTHFR
18 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.1 F5 MTHFR
19 aminoacylase 1 deficiency 10.1 HESX1 SIX3
20 lung cancer 10.1 F5 MTHFR
21 hypertrichosis 10.1 F5 MTHFR
22 left-right axis malformations 10.1 F5 MTHFR
23 myosclerosis, congenital 10.1 F5 MTHFR
24 pagod syndrome 10.1 HESX1 SOX2
25 bullous skin disease 10.1 F5 MTHFR
26 central congenital hypothyroidism 10.1 F5 MTHFR
27 lynch syndrome 10.1 F5 MTHFR
28 cryptosporidiosis 10.1 F5 MTHFR
29 angular blepharoconjunctivitis 10.1 F5 MTHFR
30 houlston ironton temple syndrome 10.1 F5 MTHFR
31 coloboma of optic nerve 10.1 HESX1 SOX2
32 blepharoconjunctivitis 10.1 F5 MTHFR
33 epilepsy 10.1
34 major affective disorder 1 10.1 SHH SIX3
35 dysgammaglobulinemia 10.0 F5 MTHFR
36 villous adenoma 10.0 F5 MTHFR
37 cervix small cell carcinoma 10.0 COL4A1 F5 MTHFR
38 ophthalmia neonatorum 10.0 F5 MTHFR
39 primary oculocerebral lymphoma 10.0 SHH SIX3
40 late-onset nephronophthisis 10.0 SHH SIX3
41 porencephaly 10.0
42 polymicrogyria 10.0
43 antenatal bartter syndrome 9.9 SHH SIX3
44 vaginal discharge 9.9 F5 MTHFR
45 ring dermoid of cornea 9.9 HESX1 SHH
46 familial infantile bilateral striatal necrosis 9.9 SHH SIX3
47 glaucoma 1, open angle, f 9.9 SHH SIX3
48 cerebritis 9.9
49 photosensitive epilepsy 9.9 COL4A1 F5 MTHFR SIX3
50 plasmalogens synthesis deficiency isolated 9.9 HESX1 SHH

Graphical network of the top 20 diseases related to Schizencephaly:



Diseases related to Schizencephaly

Symptoms & Phenotypes for Schizencephaly

Clinical features from OMIM:

269160

Human phenotypes related to Schizencephaly:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 hemiparesis 56 32 Frequent (79-30%) HP:0001269
3 intellectual disability 56 32 Frequent (79-30%) HP:0001249
4 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
5 global developmental delay 56 32 Frequent (79-30%) HP:0001263
6 spastic tetraplegia 56 32 Frequent (79-30%) HP:0002510
7 strabismus 56 32 Very frequent (99-80%) HP:0000486
8 aplasia/hypoplasia of the corpus callosum 56 32 Very frequent (99-80%) HP:0007370
9 porencephaly 56 32 Very frequent (99-80%) HP:0002132
10 spasticity 56 Very frequent (99-80%)
11 schizencephaly 32 HP:0010636

MGI Mouse Phenotypes related to Schizencephaly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 SOX2 WDR62 COL4A1 EMX2 F5 HESX1
2 mortality/aging MP:0010768 10.02 LHX2 MTHFR SHH SIX3 SOX2 EMX2
3 nervous system MP:0003631 10.02 COL4A1 EMX2 F5 HESX1 LHX2 MTHFR
4 embryo MP:0005380 9.98 COL4A1 EMX2 F5 HESX1 SHH SIX3
5 craniofacial MP:0005382 9.93 EMX2 HESX1 LHX2 SHH SIX3 SOX2
6 respiratory system MP:0005388 9.76 SIX3 SOX2 WDR62 COL4A1 EMX2 HESX1
7 reproductive system MP:0005389 9.73 COL4A1 EMX2 MTHFR SHH SOX2 WDR62
8 taste/olfaction MP:0005394 9.43 EMX2 HESX1 LHX2 SHH SIX3 SOX2
9 vision/eye MP:0005391 9.23 COL4A1 EMX2 HESX1 LHX2 MTHFR SHH

Drugs & Therapeutics for Schizencephaly

Interventional clinical trials:


id Name Status NCT ID Phase
1 Human Epilepsy Genetics--Neuronal Migration Disorders Study Recruiting NCT00041600

Search NIH Clinical Center for Schizencephaly

Genetic Tests for Schizencephaly

Genetic tests related to Schizencephaly:

id Genetic test Affiliating Genes
1 Schizencephaly 29
2 Familial Schizencephaly 24

Anatomical Context for Schizencephaly

MalaCards organs/tissues related to Schizencephaly:

39
Brain, Spinal Cord, Cortex, Temporal Lobe, Pituitary, Cerebellum, Cingulate Cortex

Publications for Schizencephaly

Articles related to Schizencephaly:

(show top 50) (show all 190)
id Title Authors Year
1
Teaching NeuroImages: Homotopic motor distribution on fMRI in closed-lip schizencephaly. ( 28069984 )
2017
2
"Quartered cerebrum": Bilateral schizencephaly with partial agenesis of corpus callosum. ( 27147184 )
2016
3
Right Homonymous Hemianopia: A Clinical Case Report of Schizencephaly. ( 26889154 )
2016
4
Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection. ( 26879631 )
2016
5
New-Onset Seizure Associated With Schizencephaly. ( 27727044 )
2016
6
Schizencephaly: A case report and review of literature. ( 27098948 )
2016
7
Contactin-associated protein-like (CNTNAP) 2 gene mutation in a patient with bilateral schizencephaly. ( 27233939 )
2016
8
Successful surgery for refractory seizures associated with bilateral schizencephaly: two case reports and literature review. ( 26966118 )
2016
9
Bilateral giant open-lip schizencephaly: A rare case report. ( 27606022 )
2016
10
Intracranial sonographic features demonstrating in utero development of hemorrhagic brain damage leading to schizencephaly-associated COL4A1 mutation. ( 26576802 )
2015
11
Prenatal diagnosis of chromosome 8p23.1 microdeletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with fetal partial corpus callosum agenesis and schizencephaly. ( 26701010 )
2015
12
Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan. ( 26545857 )
2015
13
Botulinum toxin A injection of UES in schizencephaly with dysphagia: Case report. ( 26351064 )
2015
14
Schizencephaly: Dramatic Images in a Normally Functioning Adult. ( 25828202 )
2015
15
Schizencephaly associated psychosis. ( 26182841 )
2015
16
Schizencephaly-diagnostics and clinical dilemmas. ( 25690450 )
2015
17
ERRATA: Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen I+1 Mutation and Schizencephaly. ( 26567609 )
2015
18
Prune belly and schizencephaly. ( 25114199 )
2014
19
Unilateral closed lip schizencephaly with septo-optic dysplasia. ( 24761255 )
2014
20
Diagnostic imaging and problems of schizencephaly. ( 25473439 )
2014
21
Correlation of prenatal and postnatal MRI findings in schizencephaly. ( 24610904 )
2014
22
Schizencephaly. . ( 25906523 )
2014
23
Large vertex meningoencephalocele with schizencephaly: An interesting case with neurosurgical challenge. ( 25250068 )
2014
24
Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen I+1 Mutation and Schizencephaly. ( 25500781 )
2014
25
Successful Treatment of Refractory Seizures With Rufinamide in Children With Schizencephaly: Report of 3 Cases. ( 25051969 )
2014
26
Medical image. Schizencephaly. ( 25225763 )
2014
27
Bilateral schizencephaly Type II. ( 24719651 )
2014
28
Prenatal Diagnosis and Postnatal Outcome of Schizencephaly. ( 25535059 )
2014
29
A Case of Schizencephaly Has a Normal Surface EEG but Abnormal Intracranial EEG: Epilepsia Partialis Continua or Dystonia? ( 23545249 )
2013
30
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. ( 23225343 )
2013
31
Schizencephaly and psychosis: a rare association. ( 24454392 )
2013
32
Schizencephaly and borderline personality disorder. ( 23686060 )
2013
33
Long-term outcome of surgical treatment of patients with intractable epilepsy associated with schizencephaly. ( 23793966 )
2013
34
A case of schizencephaly associated with obsessive-compulsive disorder. ( 23638447 )
2013
35
Clinical and Radiologic Features of Unilateral and Bilateral Schizencephaly in Polish Pediatric Patients. ( 23503883 )
2013
36
Resection or multi-lobe disconnection for intractable epilepsy with open-lip schizencephaly. ( 23896548 )
2013
37
Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. ( 23266945 )
2013
38
The differences in epileptic characteristics in patients with porencephaly and schizencephaly. ( 22024697 )
2012
39
Prenatal and Postnatal Schizencephaly Findings by 2D and 3D Ultrasound: Pictorial Essay. ( 22754744 )
2012
40
Comorbidity of attention-deficit/hyperactivity disorder, Tourette's syndrome and bipolar I disorder in an adolescent patient with schizencephaly. ( 22285365 )
2012
41
Open-lip schizencephaly associated with bipolar disorder in a young man exposed in utero to the chernobyl disaster. ( 22450641 )
2012
42
Status epilepticus revealing a giant schizencephaly. ( 23159513 )
2012
43
Schizencephaly: a study of 16 patients. ( 21890242 )
2012
44
Continuous involuntary hand movements and schizencephaly: epilepsia partialis continua or dystonia? ( 21720895 )
2012
45
Unilateral open-lip schizencephaly: A rare cause of infantile hemiparesis. ( 23560019 )
2012
46
Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. ( 21647999 )
2012
47
Cingulate cortex aplasia and callosal dysgenesia combined with schizencephaly in a patient with chronic lying. ( 22079152 )
2012
48
Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spacesa89extended spectrum of the condition. ( 22293976 )
2012
49
A case of schizencephaly and septo-optic dysplasia presenting with anterior encephalocele. ( 24665280 )
2012
50
Schizencephaly of open and closed lip type in the same patient: An extremely rare occurrence. ( 23248687 )
2012

Variations for Schizencephaly

UniProtKB/Swiss-Prot genetic disease variations for Schizencephaly:

66
id Symbol AA change Variation ID SNP ID
1 COL4A1 p.Gly655Arg VAR_073812
2 COL4A1 p.Gly870Arg VAR_073815
3 COL4A1 p.Gly897Ser VAR_073817
4 COL4A1 p.Gly948Ser VAR_073818
5 COL4A1 p.Gly1041Glu VAR_073819
6 COL4A1 p.Gly1082Glu VAR_073820
7 COL4A1 p.Gly1326Arg VAR_073822
8 COL4A1 p.Gly1332Asp VAR_073823
9 COL4A1 p.Glu1615Lys VAR_073825
10 SIX3 p.Ala167Ser VAR_071343 rs387906868

ClinVar genetic disease variations for Schizencephaly:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EMX2 EMX2, 1-BP INS insertion Pathogenic
2 EMX2 EMX2, IVS1AS, G-A, -1 single nucleotide variant Pathogenic
3 EMX2 EMX2, IVS1AS, G-T, -4 single nucleotide variant Pathogenic
4 EMX2 EMX2, G-T, EXON 2, NT1 single nucleotide variant Pathogenic
5 SIX3 NM_005413.3(SIX3): c.385G> T (p.Glu129Ter) single nucleotide variant Pathogenic rs387906867 GRCh37 Chromosome 2, 45169628: 45169628
6 SIX3 NM_005413.3(SIX3): c.499G> T (p.Ala167Ser) single nucleotide variant Pathogenic rs387906868 GRCh37 Chromosome 2, 45169742: 45169742
7 COL4A1 NM_001845.5(COL4A1): c.3976G> A (p.Gly1326Arg) single nucleotide variant Pathogenic rs587777379 GRCh37 Chromosome 13, 110818624: 110818624

Expression for Schizencephaly

Search GEO for disease gene expression data for Schizencephaly.

Pathways for Schizencephaly

Pathways related to Schizencephaly according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.29 HESX1 SHH SOX2
2 10.85 BGLAP SHH
3 10.63 SHH SOX2
4 10.42 HESX1 SIX3 SOX2

GO Terms for Schizencephaly

Cellular components related to Schizencephaly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.92 BGLAP COL4A1 F5 SHH

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.92 EMX2 HESX1 SHH SIX3 SOX2
2 regulation of gene expression GO:0010468 9.71 EMX2 SHH SOX2
3 positive regulation of cell differentiation GO:0045597 9.59 SHH SOX2
4 blood circulation GO:0008015 9.58 F5 MTHFR
5 dorsal/ventral pattern formation GO:0009953 9.58 LHX2 SHH
6 hair follicle development GO:0001942 9.57 LHX2 SHH
7 eye development GO:0001654 9.56 SIX3 SOX2
8 odontogenesis GO:0042476 9.55 BGLAP SHH
9 forebrain development GO:0030900 9.54 EMX2 SHH SOX2
10 branching involved in blood vessel morphogenesis GO:0001569 9.51 COL4A1 SHH
11 cerebral cortex development GO:0021987 9.5 EMX2 LHX2 WDR62
12 telencephalon development GO:0021537 9.49 LHX2 SIX3
13 renal system development GO:0072001 9.48 EMX2 SHH
14 osteoblast development GO:0002076 9.46 BGLAP SHH
15 anatomical structure formation involved in morphogenesis GO:0048646 9.43 LHX2 SHH
16 cell proliferation in forebrain GO:0021846 9.4 EMX2 SIX3
17 brain development GO:0007420 9.35 COL4A1 EMX2 HESX1 LHX2 SIX3
18 pituitary gland development GO:0021983 9.33 HESX1 SIX3 SOX2
19 response to vitamin K GO:0032571 9.26 BGLAP F5
20 telencephalon regionalization GO:0021978 8.8 LHX2 SHH SIX3

Molecular functions related to Schizencephaly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.02 EMX2 HESX1 LHX2 SIX3 SOX2

Sources for Schizencephaly

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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