MCID: CRB208
MIFTS: 31

Cerebral Malformation

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Malformation

MalaCards integrated aliases for Cerebral Malformation:

Name: Cerebral Malformation 59
Brain Malformation 59 29 6
Brain Malformations 43

Classifications:



External Ids:

UMLS via Orphanet 73 C0266449
Orphanet 59 ORPHA199633

Summaries for Cerebral Malformation

MedlinePlus : 43 Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's a genetic problem. In other cases, exposure to certain medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, abnormally small or large, or not fully developed. Treatment depends upon the problem. In many cases, treatment only helps with symptoms. It may include antiseizure medicines, shunts to drain fluid from the brain, and physical therapy. There are head malformations that do not involve the brain. Craniofacial disorders are the result of abnormal growth of soft tissue and bones in the face and head. It's common for new babies to have slightly uneven heads, but parents should watch the shape of their baby's head for possible problems. NIH: National Institute of Neurological Disorders and Stroke

MalaCards based summary : Cerebral Malformation, also known as brain malformation, is related to cortical dysplasia, complex, with other brain malformations 5 and cortical dysplasia, complex, with other brain malformations 2. An important gene associated with Cerebral Malformation is MEF2C (Myocyte Enhancer Factor 2C). The drugs Phenobarbital and Bumetanide have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and eye.

Related Diseases for Cerebral Malformation

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

(show top 50) (show all 405)
# Related Disease Score Top Affiliating Genes
1 cortical dysplasia, complex, with other brain malformations 5 12.5
2 cortical dysplasia, complex, with other brain malformations 2 12.5
3 cortical dysplasia, complex, with other brain malformations 3 12.5
4 cortical dysplasia, complex, with other brain malformations 4 12.5
5 cortical dysplasia, complex, with other brain malformations 6 12.5
6 brain malformations with or without urinary tract defects 12.5
7 complex cortical dysplasia with other brain malformations 12.5
8 heart and brain malformation syndrome 12.5
9 microcephaly, growth deficiency, seizures, and brain malformations 12.5
10 cortical dysplasia, complex, with other brain malformations 9 12.5
11 cortical dysplasia, complex, with other brain malformations 8 12.4
12 cerebral malformation, seizures, hypertrichosis, and overlapping fingers 12.3
13 mental retardation, autosomal dominant 20 12.2
14 cerebral malformation with epilepsy 12.2
15 non-syndromic cerebral malformation due to abnormal neuronal migration 12.2
16 genetic cerebral malformation 12.2
17 midline cerebral malformation 12.2
18 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 12.2
19 arx-related encephalopathy-brain malformation spectrum 12.2
20 brain malformation-congenital heart disease-postaxial polydactyly syndrome 12.2
21 phace syndrome 11.9
22 orofaciodigital syndrome xiv 11.8
23 congenital disorder of glycosylation, type iq 11.8
24 carpenter syndrome 1 11.5
25 fetal akinesia syndrome, x-linked 11.5
26 lissencephaly 1 11.5
27 schizencephaly 11.4
28 holoprosencephaly 1 11.4
29 neuronal migration disorders 11.3
30 phace association 11.3
31 lissencephaly 5 11.3
32 stromme syndrome 11.3
33 zttk syndrome 11.3
34 hemimegalencephaly 11.3
35 corpus callosum, agenesis of 11.2
36 optic nerve hypoplasia, bilateral 11.2
37 aicardi syndrome 11.2
38 microphthalmia, syndromic 3 11.2
39 baraitser-winter syndrome 1 11.2
40 acromelic frontonasal dysostosis 11.2
41 epilepsy, familial focal, with variable foci 1 11.2
42 microhydranencephaly 11.2
43 curry-jones syndrome 11.2
44 muller barth menger syndrome 11.2
45 dandy-walker syndrome 11.1
46 megalencephaly-capillary malformation-polymicrogyria syndrome 11.1
47 apert syndrome 11.0
48 sturge-weber syndrome 11.0
49 arthrogryposis, renal dysfunction, and cholestasis 1 11.0
50 polymicrogyria, bilateral frontoparietal 11.0

Graphical network of the top 20 diseases related to Cerebral Malformation:



Diseases related to Cerebral Malformation

Symptoms & Phenotypes for Cerebral Malformation

Drugs & Therapeutics for Cerebral Malformation

Drugs for Cerebral Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenobarbital Approved, Investigational Phase 1 50-06-6 4763
2
Bumetanide Approved Phase 1 28395-03-1 2471
3 Cytochrome P-450 CYP3A Inducers Phase 1
4 Neurotransmitter Agents Phase 1
5 GABA Agents Phase 1
6 Natriuretic Agents Phase 1
7 Cytochrome P-450 Enzyme Inducers Phase 1
8 Sodium Potassium Chloride Symporter Inhibitors Phase 1
9 diuretics Phase 1
10 Central Nervous System Depressants Phase 1
11 Hypnotics and Sedatives Phase 1
12 Excitatory Amino Acid Antagonists Phase 1
13 GABA Modulators Phase 1
14 Excitatory Amino Acids Phase 1
15 Anticonvulsants Phase 1
16
Nitric Oxide Approved 10102-43-9 145068
17
Ethanol Approved 64-17-5 702
18
Melatonin Approved, Nutraceutical, Vet_approved Early Phase 1 73-31-4 896
19 Antioxidants Early Phase 1
20 Protective Agents Early Phase 1
21 Dermatologic Agents

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Lateral Cord Magnetic Stimulation For Refractory Spastic Cerebral Palsy - Multicenter Double Blind Randomized and Controlled Trial Not yet recruiting NCT03676439 Phase 2, Phase 3
2 Pilot Study of Bumetanide for Newborn Seizures: A Phase I Study of Pharmacokinetics and Safety of Bumetanide for Neonatal Seizures Completed NCT00830531 Phase 1 Bumetanide;Normal Saline as Placebo
3 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
4 BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD Antenatal Unknown status NCT02826824
5 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
6 Analysis of Movements of Singletons and Infants of Multiple Fetus Pregnancy as a Predictor of Developmental Delay Unknown status NCT00418808
7 Adjusted Individual Oral Feeding for Improving Short and Long Term Outcomes of Preterm Unknown status NCT01989871
8 Identification and Treatment of Biological Clock Dysfunction in Optic Nerve Hypoplasia Unknown status NCT00825591 Early Phase 1
9 Clinical-genetic Investigations in Children With Early Infantile Epilepsies Completed NCT01357707
10 Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
11 Hemangioma Associated With High Rates of Morbidity:A Prospective Study Completed NCT00394888
12 Corpus Callosum Agenesis and Intellectual Disability: Genetic and Phenotypic Characterization Completed NCT02167568
13 Comparison of Constraint-induced Movement Therapy and Its Modified Form on Upper Motor Function Outcomes and Psychosocial Impact in Hemiplegic Cerebral Palsy. Completed NCT03691506
14 Disorders of Cerebral Development: A Phenotypic and Genetic Analysis Recruiting NCT00305305
15 Genetic Analysis of PHACE Syndrome.(PHACE Syndrome is Defined as a Hemangioma Plus One or More of the Following: Brain, Heart, Eye, Sternal or Cerebral Artery Anomalies). Recruiting NCT01016756
16 A Pilot Study- Monitoring Cerebral Blood Flow in Neonates With Congenital Heart Defects Recruiting NCT03512613
17 Genetic Analysis of Brain Disorders Recruiting NCT00645645
18 Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy? Recruiting NCT03802708
19 Outcome of Infants With Prenatal Corpus Callosum Agenesis Active, not recruiting NCT02267161
20 Protecting Brains and Saving Futures: an Observational Study on Telemedicine Neuroprotection Protocol in Neonatal Intensive Care Unit in Brazil Not yet recruiting NCT03786497
21 Development of Potential Biomarkers for Foetal Brain Development After Congenital CMV Infection Not yet recruiting NCT03188679
22 Comparison of Abnormal Cortical Development in Brain Malformations on Postmortem Imaging With Autopsy Withdrawn NCT00686530

Search NIH Clinical Center for Cerebral Malformation

Genetic Tests for Cerebral Malformation

Genetic tests related to Cerebral Malformation:

# Genetic test Affiliating Genes
1 Brain Malformation 29

Anatomical Context for Cerebral Malformation

MalaCards organs/tissues related to Cerebral Malformation:

41
Brain, Bone, Eye, Heart, Cortex, Cerebellum, Fetal Brain

Publications for Cerebral Malformation

Articles related to Cerebral Malformation:

(show top 50) (show all 742)
# Title Authors PMID Year
1
Correlation between cephalic circumference at birth and ocular alterations in patients with microcephaly potentially associated with Zika Virus infection. 17
31340324 2019
2
Investigation of candidate genes of non-syndromic cleft lip with or without cleft palate, using both case-control and family-based association studies. 17
31261547 2019
3
Molecular Genetics of Noonan Syndrome and RASopathies. 17
31115195 2019
4
Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. 38
30680721 2019
5
The expanding spectrum of neurological disorders of phosphoinositide metabolism. 38
31413155 2019
6
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2. 38
31412107 2019
7
CNTF and Nrf2 Are Coordinately Involved in Regulating Self-Renewal and Differentiation of Neural Stem Cell during Embryonic Development. 38
31404831 2019
8
Parasagittal hemispherotomy in hemispheric polymicrogyria with electrical status epilepticus during slow sleep: Indications, results and follow-up. 38
31386962 2019
9
Fetal MRI in Prenatal Diagnosis of Encephalocele. 38
31279765 2019
10
CRL4Mahj E3 ubiquitin ligase promotes neural stem cell reactivation. 38
31170139 2019
11
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant. 38
31056854 2019
12
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity. 38
30683929 2019
13
The wide spectrum of ultrasound diagnosis of holoprosencephaly. 38
31063520 2019
14
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. 38
30982609 2019
15
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. 38
30982090 2019
16
Lessons Learned From a Burn-Injured Pediatric Patient With Dandy-Walker Syndrome After Multiple Anesthetics: A Case Report. 38
30985318 2019
17
TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity. 38
30517687 2019
18
Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. 38
30894326 2019
19
Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst. 38
30855487 2019
20
p53 deletion rescues lethal microcephaly in a mouse model with neural stem cell abscission defects. 38
30304535 2019
21
Human brain development and its in vitro recapitulation. 38
30326251 2019
22
Fetal exome sequencing: yield and limitations in a tertiary referral center. 38
29947050 2019
23
Asymmetric neonatal spasms as an early sign of brain malformation potentially caused by regular light alcohol consumption during the first 22 weeks of pregnancy, a clinical case report. 38
30954976 2019
24
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. 38
30517861 2018
25
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. 38
30391508 2018
26
The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy. 38
30578246 2018
27
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. 38
30471716 2018
28
ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE). 38
30702069 2018
29
Rhombencephalosynapsis: Fused cerebellum, confused geneticists. 38
30580482 2018
30
Hypothalamic Obesity: 4 Years of the International Registry of Hypothalamic Obesity Disorders. 38
30296362 2018
31
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review. 38
30005813 2018
32
A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient. 38
30289607 2018
33
Schizencephaly: A Review of 734 Patients. 38
30501885 2018
34
Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure. 38
29594439 2018
35
Central nervous system malformation associated with methamphetamine abuse during pregnancy. 38
29343133 2018
36
Mettl1/Wdr4-Mediated m7G tRNA Methylome Is Required for Normal mRNA Translation and Embryonic Stem Cell Self-Renewal and Differentiation. 38
29983320 2018
37
[Dandy-Walker malformation]. 38
29797040 2018
38
mTOR-Related Brain Dysfunctions in Neuropsychiatric Disorders. 38
30061532 2018
39
Neuropathology of holoprosencephaly. 38
30182440 2018
40
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. 38
29555514 2018
41
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. 38
29501407 2018
42
Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene. 38
29427453 2018
43
Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany. 38
30182445 2018
44
CRISPR-mediated Loss of Function Analysis in Cerebellar Granule Cells Using In Utero Electroporation-based Gene Transfer. 38
29939173 2018
45
Developmental Thyroid Hormone Insufficiency Induces a Cortical Brain Malformation and Learning Impairments: A Cross-Fostering Study. 38
29385626 2018
46
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions. 38
29793483 2018
47
Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage. 38
29360985 2018
48
Neurometabolic disorders and congenital malformations of the central nervous system. 38
29664449 2018
49
Persistence of Zika Virus After Birth: Clinical, Virological, Neuroimaging, and Neuropathological Documentation in a 5-Month Infant With Congenital Zika Syndrome. 38
29346650 2018
50
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. 38
29265763 2018

Variations for Cerebral Malformation

ClinVar genetic disease variations for Cerebral Malformation:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 AMPD2 NM_004037.9(AMPD2): c.1457G> A (p.Arg486Gln) single nucleotide variant Likely pathogenic rs192669225 1:110171314-110171314 1:109628692-109628692

Expression for Cerebral Malformation

Search GEO for disease gene expression data for Cerebral Malformation.

Pathways for Cerebral Malformation

GO Terms for Cerebral Malformation

Sources for Cerebral Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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