MCID: CLP002
MIFTS: 16

Colpocephaly

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Colpocephaly

MalaCards integrated aliases for Colpocephaly:

Name: Colpocephaly 54 55 6

Classifications:



Summaries for Colpocephaly

NINDS : 55 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 : 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.  

Wikipedia : 77 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 19)
# Related Disease Score Top Affiliating Genes
1 cortical dysplasia, complex, with other brain malformations 8 11.2
2 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
3 attention deficit-hyperactivity disorder 10.0
4 mirror movements 1 10.0
5 anus, imperforate 10.0
6 corpus callosum, agenesis of 10.0
7 hydrocephalus, congenital, 1 10.0
8 meningioma, familial 10.0
9 pol iii-related leukodystrophies 10.0
10 lissencephaly 10.0
11 spinal meningioma 10.0
12 heart disease 10.0
13 epilepsy 10.0
14 secretory meningioma 10.0
15 cleft lip 10.0
16 microcephaly 10.0
17 arachnoid cysts 10.0
18 encephalocele 10.0
19 cleft lip/palate 10.0

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

Anatomical Context for Colpocephaly

MalaCards organs/tissues related to Colpocephaly:

42
Brain, Heart, Cortex

Publications for Colpocephaly

Articles related to Colpocephaly:

(show all 28)
# Title Authors Year
1
Transsphenoidal encephalocele, colpocephaly and corpus callosum agenesis in a midline cleft lip and palate patient: A very rare case. ( 30983739 )
2018
2
Asymptomatic colpocephaly and partial agenesis of corpus callosum. ( 25440066 )
2016
3
Relationship Between Epilepsy and Colpocephaly in Baboons (Papio hamadryas). ( 27298250 )
2016
4
Attention Deficit Hyperactivity Disorder in a Patient With Congenital Mirror Movement Disorder and Colpocephaly. ( 26495087 )
2015
5
Prenatal diagnosis of colpocephaly with absent corpus callosum. ( 25468365 )
2015
6
Absent circle of Willis with vascular pollarding in an adult with colpocephaly: A developmental perspective. ( 26443299 )
2015
7
Colpocephaly in adults. ( 23704444 )
2013
8
Atypical meningioma in the posterior fossa associated with colpocephaly and agenesis of the corpus callosum. ( 22116445 )
2012
9
A rare case of colpocephaly with macrocephaly successfully treated with ventriculo-peritoneal shunting. ( 23248702 )
2012
10
Septal agenesis and lissencephaly with colpocephaly presenting as the 'Crown Sign'. ( 21559156 )
2010
11
Calcified meconium balls in a newborn: an unusual case with imperforate anus, rectourinary fistula, colpocephaly, and agenesis of corpus callosum. ( 19319541 )
2009
12
Frontoethmoidal encephalomeningocoele with colpocephaly: case report and clinical review. ( 17666141 )
2008
13
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
14
Colpocephaly: a case report. ( 16799912 )
2006
15
De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay. ( 15658619 )
2004
16
Microcephaly with dysgenesis of corpus callosum and colpocephaly in the survivor after the first-trimester death of a monochorionic co-twin. ( 12124705 )
2002
17
Colpocephaly in two siblings: further evidence of a genetic transmission. ( 10795569 )
2000
18
Reorganisation of the visual cortex in callosal agenesis and colpocephaly. ( 10847643 )
2000
19
Adult-onset complex partial seizures as the presenting sign in colpocephaly: MRI and PET correlates. ( 8704298 )
1996
20
Colpocephaly in identical twins. ( 1928612 )
1991
21
Radiological colpocephaly. ( 2240469 )
1990
22
Colpocephaly: pitfalls in the diagnosis of a pathologic entity utilizing neuroimaging techniques. ( 2345283 )
1990
23
Radiological colpocephaly: a congenital malformation or the result of intrauterine and perinatal brain damage. ( 2817296 )
1989
24
Colpocephaly: frequency and associated findings. ( 3259595 )
1988
25
Colpocephaly: clinical, radiologic, and pathogenetic aspects. ( 4058748 )
1985
26
Colpocephaly and Gilles de la Tourette's syndrome. ( 6591876 )
1984
27
Colpocephaly. ( 6735687 )
1984
28
Colpocephaly. An error of morphogenesis? ( 6978704 )
1982

Variations for Colpocephaly

ClinVar genetic disease variations for Colpocephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C2CD3 NM_001286577.1(C2CD3): c.917T> C (p.Leu306Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 73849803: 73849803
2 C2CD3 NM_001286577.1(C2CD3): c.917T> C (p.Leu306Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 74138758: 74138758

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
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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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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