MCID: CLP002
MIFTS: 17

Colpocephaly

Categories: Rare diseases

Aliases & Classifications for Colpocephaly

MalaCards integrated aliases for Colpocephaly:

Name: Colpocephaly 53 54 29

Classifications:



Summaries for Colpocephaly

NINDS : 54 Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain -- are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.  Colpocephaly, one of a group of structural brain disorders known as cephalic disorders, is characterized by microcephaly (an abnormally small head) and impaired intellect. Other features may include movement abnormalities, muscle spasms, and seizures. Although the cause of colpocephaly is unknown, researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. Colpocephaly may be diagnosed late in pregnancy, although it is often misdiagnosed as hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). It may be more accurately diagnosed after birth when signs of impaired intellect, microcephaly, and seizures are present.

MalaCards based summary : Colpocephaly is related to cortical dysplasia, complex, with other brain malformations 8 and corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia. An important gene associated with Colpocephaly is TUBA8 (Tubulin Alpha 8). Affiliated tissues include brain, heart and cortex.

NIH Rare Diseases : 53 Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.  

Wikipedia : 76 Colpocephaly is a cephalic disorder involving the disproportionate enlargement of the occipital horns of... more...

Related Diseases for Colpocephaly

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cortical dysplasia, complex, with other brain malformations 8 11.0
2 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
3 attention deficit-hyperactivity disorder 9.8
4 mirror movements 1 9.8
5 anus, imperforate 9.8
6 lissencephaly 9.8
7 microcephaly 9.8
8 arachnoiditis 9.8
9 epilepsy 9.8
10 movement disease 9.8
11 peritonitis 9.8
12 arachnoid cysts 9.8

Graphical network of the top 20 diseases related to Colpocephaly:



Diseases related to Colpocephaly

Symptoms & Phenotypes for Colpocephaly

Drugs & Therapeutics for Colpocephaly

Search Clinical Trials , NIH Clinical Center for Colpocephaly

Genetic Tests for Colpocephaly

Genetic tests related to Colpocephaly:

# Genetic test Affiliating Genes
1 Colpocephaly 29

Anatomical Context for Colpocephaly

MalaCards organs/tissues related to Colpocephaly:

41
Brain, Heart, Cortex

Publications for Colpocephaly

Articles related to Colpocephaly:

(show all 27)
# Title Authors Year
1
Relationship Between Epilepsy and Colpocephaly in Baboons (Papio hamadryas). ( 27298250 )
2016
2
Prenatal diagnosis of colpocephaly with absent corpus callosum. ( 25468365 )
2015
3
Absent circle of Willis with vascular pollarding in an adult with colpocephaly: A developmental perspective. ( 26443299 )
2015
4
Attention Deficit Hyperactivity Disorder in a Patient With Congenital Mirror Movement Disorder and Colpocephaly. ( 26495087 )
2015
5
Asymptomatic colpocephaly and partial agenesis of corpus callosum. ( 25440066 )
2014
6
Colpocephaly in adults. ( 23704444 )
2013
7
A rare case of colpocephaly with macrocephaly successfully treated with ventriculo-peritoneal shunting. ( 23248702 )
2012
8
Atypical meningioma in the posterior fossa associated with colpocephaly and agenesis of the corpus callosum. ( 22116445 )
2012
9
Septal agenesis and lissencephaly with colpocephaly presenting as the 'Crown Sign'. ( 21559156 )
2010
10
Calcified meconium balls in a newborn: an unusual case with imperforate anus, rectourinary fistula, colpocephaly, and agenesis of corpus callosum. ( 19319541 )
2009
11
Prenatal sonographic and magnetic resonance imaging demonstration of a right midline arachnoid cyst associated with ventriculomegaly, colpocephaly, dilation of the third ventricle, absence of cavum septi pellucidi, agenesis of the corpus callosum and mega cisterna magna. ( 18400590 )
2008
12
Frontoethmoidal encephalomeningocoele with colpocephaly: case report and clinical review. ( 17666141 )
2008
13
Colpocephaly: a case report. ( 16799912 )
2006
14
De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay. ( 15658619 )
2004
15
Microcephaly with dysgenesis of corpus callosum and colpocephaly in the survivor after the first-trimester death of a monochorionic co-twin. ( 12124705 )
2002
16
Reorganisation of the visual cortex in callosal agenesis and colpocephaly. ( 10847643 )
2000
17
Colpocephaly in two siblings: further evidence of a genetic transmission. ( 10795569 )
2000
18
Adult-onset complex partial seizures as the presenting sign in colpocephaly: MRI and PET correlates. ( 8704298 )
1996
19
Colpocephaly in identical twins. ( 1928612 )
1991
20
Radiological colpocephaly. ( 2240469 )
1990
21
Colpocephaly: pitfalls in the diagnosis of a pathologic entity utilizing neuroimaging techniques. ( 2345283 )
1990
22
Radiological colpocephaly: a congenital malformation or the result of intrauterine and perinatal brain damage. ( 2817296 )
1989
23
Colpocephaly: frequency and associated findings. ( 3259595 )
1988
24
Colpocephaly: clinical, radiologic, and pathogenetic aspects. ( 4058748 )
1985
25
Colpocephaly. ( 6735687 )
1984
26
Colpocephaly and Gilles de la Tourette's syndrome. ( 6591876 )
1984
27
Colpocephaly. An error of morphogenesis? ( 6978704 )
1982

Variations for Colpocephaly

Expression for Colpocephaly

Search GEO for disease gene expression data for Colpocephaly.

Pathways for Colpocephaly

GO Terms for Colpocephaly

Sources for Colpocephaly

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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