MCID: CNT114
MIFTS: 16

Central Nervous System Malformation

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Central Nervous System Malformation

MalaCards integrated aliases for Central Nervous System Malformation:

Name: Central Nervous System Malformation 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA98044

Summaries for Central Nervous System Malformation

MalaCards based summary : Central Nervous System Malformation is related to genetic central nervous system malformation and other syndrome with a central nervous system malformation as major feature. An important gene associated with Central Nervous System Malformation is HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated). Affiliated tissues include brain, skin and heart.

Related Diseases for Central Nervous System Malformation

Diseases related to Central Nervous System Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 genetic central nervous system malformation 12.5
2 other syndrome with a central nervous system malformation as major feature 12.5
3 genetic non-syndromic central nervous system malformation 12.5
4 genetic syndrome with a central nervous system malformation as major feature 12.5
5 syndrome with a central nervous system malformation as major feature 12.5
6 non-syndromic central nervous system malformation 12.5
7 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 11.8
8 scalp syndrome 11.8
9 hydrolethalus syndrome 1 11.4
10 meckel syndrome, type 1 11.4
11 spondylometaphyseal dysplasia, sedaghatian type 11.2
12 meckel syndrome, type 7 11.2
13 pettigrew syndrome 11.2
14 holoprosencephaly with fetal akinesia/hypokinesia sequence 11.2
15 acromelic frontonasal dysostosis 11.2
16 microphthalmia, syndromic 5 11.2
17 microcephaly, postnatal progressive, with seizures and brain atrophy 11.2
18 west syndrome 11.2
19 microcephaly brain defect spasticity hypernatremia 11.2
20 x-linked lissencephaly with abnormal genitalia 11.2
21 hydrocephalus 10.5
22 neural tube defects 10.4
23 holoprosencephaly 10.4
24 anencephaly 10.3
25 myelomeningocele 10.3
26 encephalocele 10.2
27 dandy-walker syndrome 10.2
28 aplasia cutis congenita, nonsyndromic 10.1
29 down syndrome 10.1
30 holoprosencephaly 1 10.1
31 hydrocephalus, congenital, 1 10.1
32 lissencephaly 10.1
33 meningocele 10.1
34 microcephaly 10.1
35 ectodermal dysplasia 10.1
36 chromosomal triplication 10.1
37 holoprosencephaly 2 10.0
38 joubert syndrome 1 10.0
39 schizencephaly 10.0
40 porencephaly 10.0
41 ventricular septal defect 10.0
42 craniosynostosis 10.0
43 hydranencephaly 10.0
44 cerebellar hypoplasia 10.0
45 congenital hydrocephalus 10.0
46 encephalopathy 10.0
47 neuronal migration disorders 10.0
48 occipital encephalocele 10.0
49 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.0
50 pfeiffer syndrome 9.9

Graphical network of the top 20 diseases related to Central Nervous System Malformation:



Diseases related to Central Nervous System Malformation

Symptoms & Phenotypes for Central Nervous System Malformation

Drugs & Therapeutics for Central Nervous System Malformation

Search Clinical Trials , NIH Clinical Center for Central Nervous System Malformation

Genetic Tests for Central Nervous System Malformation

Anatomical Context for Central Nervous System Malformation

MalaCards organs/tissues related to Central Nervous System Malformation:

40
Brain, Skin, Heart

Publications for Central Nervous System Malformation

Articles related to Central Nervous System Malformation:

(show top 50) (show all 77)
# Title Authors PMID Year
1
Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication. 61
32016944 2020
2
The value of obstetric ultrasound in screening fetal nervous system malformation. 61
31931232 2020
3
Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation. 61
31029817 2019
4
Amphiphilic block copolymer delivery of a DNA vaccine against Zika virus. 61
30337177 2018
5
Two-year postnatal outcome of 263 cases of fetal ventriculomegaly. 61
30185084 2018
6
Central nervous system malformation associated with methamphetamine abuse during pregnancy. 61
29343133 2018
7
Cranial neural tube defect after trimethoprim exposure. 61
30012199 2018
8
Neurologic Involvement in Primary Immunodeficiency Disorders. 61
29421957 2018
9
Retinoic Acid Embryopathy. 61
29308367 2017
10
Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans. 61
28286691 2017
11
Perinatal and follow-up outcome study of fetal anomalies with multidisciplinary consultation. 61
29042787 2017
12
Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report. 61
26914089 2016
13
Multifetal gestations with assisted reproductive technique before the single-embryo transfer legislation: obstetric, neonatal outcomes and congenital anomalies. 61
26414487 2016
14
Meckel-Gruber Syndrome with unilateral renal agenesis. 61
25933467 2015
15
Evaluation of the association of zoonotic Ljungan virus with perinatal deaths and fetal malformation. 61
25789980 2015
16
Urodynamic Findings and Renal Function in Children with Neurogenic Bladder after Myelomeningocele. 61
26067248 2015
17
Brief report pregnancy outcome in women assigned an ICD-9/ICD-9-CM 655.0 code "central nervous system malformation in fetus affecting management of pregnancy": can these codes aid in surveillance for central nervous system defects? 61
25073455 2014
18
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. 61
25239142 2014
19
Neu-Laxova syndrome: a case report. 61
24584393 2014
20
Interfrontal encephalocele: a rare feature of forehead in hydrocephalic myelomeningocele patients. Clinical feature, probable mechanisms, and management. 61
23864232 2013
21
Incidental discovery of subtle-variant septooptic dysplasia in an adult with headaches: a novel case with pathophysiologic implications. 61
23333409 2013
22
[Prenatal diagnosis of central nervous system malformations]. 61
23971353 2013
23
Monozygotic twins with trisomy 21 and partial agenesis of the corpus callosum. 61
23498567 2013
24
Joubert syndrome in three children in a family: a case series. 61
24665289 2013
25
Cerebellar growth in very low birth weight infants. 61
21372799 2011
26
Fetopathological aspects of holoprosencephaly. 61
22359981 2011
27
Fetopathological investigations after induced abortions performed in mid-term gemini pregnancies. 61
21596482 2011
28
Embryology of the brain and molecular genetics of central nervous system malformation. 61
21596273 2011
29
Non-syndromic malformations of the central nervous system in twin pregnancies: diagnostic and other clinical features of importance. 61
20828915 2011
30
Myelomeningocele (open spina bifida) - surgical management. 61
21997743 2011
31
Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. 61
18972129 2009
32
A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome. 61
19638992 2009
33
Myelination progression in language-correlated regions in brain of normal children determined by quantitative MRI assessment. 61
18849083 2008
34
Evaluating the incidence and likelihood ratios for chromosomal abnormalities in fetuses with common central nervous system malformations. 61
18771985 2008
35
Prenatal diagnosis of arachnoid cysts. 61
17962096 2007
36
Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation. 61
17551329 2007
37
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 61
17397051 2007
38
Occipital mega encephalocele. Case report. 61
17301726 2007
39
VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. 61
16492441 2006
40
[Schizencephaly--clinical and radiological presentation of pediatric patients]. 61
17209341 2006
41
[Oral administration of arsenic trioxide induced molecular remission in relapsed acute promyelocytic leukemia]. 61
16440808 2005
42
Holoprosencephaly presenting as membranous aplasia cutis and diabetes insipidus: report of one case. 61
15493741 2004
43
Intrauterine West Nile virus: ocular and systemic findings. 61
14516816 2003
44
[Congenital nasal pyriform aperture stenosis: a case report]. 61
12360717 2002
45
Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling. 61
10893662 2000
46
Clinical features and revised diagnostic criteria in Joubert syndrome. 61
10488903 1999
47
Notochordal remnants in human iniencephaly suggest disturbed dorsoventral axis signaling. 61
10360397 1999
48
Meckel syndrome. 61
9643292 1998
49
Cell cycle properties in lymphocytes from children with myelomeningocele. 61
9497110 1997
50
CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review. 61
9382144 1997

Variations for Central Nervous System Malformation

Expression for Central Nervous System Malformation

Search GEO for disease gene expression data for Central Nervous System Malformation.

Pathways for Central Nervous System Malformation

GO Terms for Central Nervous System Malformation

Sources for Central Nervous System Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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