MCID: CLP002
MIFTS: 20

Colpocephaly

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Colpocephaly

MalaCards integrated aliases for Colpocephaly:

Name: Colpocephaly 52 53 6

Classifications:



Summaries for Colpocephaly

NINDS : 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.  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 structural brain anomalies with impaired intellectual development and craniosynostosis and cortical dysplasia, complex, with other brain malformations 8. An important gene associated with Colpocephaly is TUBA8 (Tubulin Alpha 8). Affiliated tissues include brain, heart and eye.

NIH Rare Diseases : 52 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 : 74 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 41)
# Related Disease Score Top Affiliating Genes
1 structural brain anomalies with impaired intellectual development and craniosynostosis 11.4
2 cortical dysplasia, complex, with other brain malformations 8 11.3
3 hydrocephalus, congenital, 1 10.3
4 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.3
5 hydrocephalus 10.3
6 hypertelorism 10.2
7 microcephaly 10.2
8 visual epilepsy 10.2
9 seizure disorder 10.2
10 coloboma of macula 10.0
11 hair whorl 10.0
12 attention deficit-hyperactivity disorder 10.0
13 schizophrenia 10.0
14 anus, imperforate 10.0
15 arachnoid cysts, intracranial 10.0
16 corpus callosum, agenesis of 10.0
17 meningioma, radiation-induced 10.0
18 meningioma, familial 10.0
19 patent ductus arteriosus 1 10.0
20 alacrima, achalasia, and mental retardation syndrome 10.0
21 lissencephaly 10.0
22 microphthalmia 10.0
23 spinal meningioma 10.0
24 normal pressure hydrocephalus 10.0
25 heart septal defect 10.0
26 epilepsy 10.0
27 atrial heart septal defect 10.0
28 focal epilepsy 10.0
29 secretory meningioma 10.0
30 lymphoplasmacyte-rich meningioma 10.0
31 holoprosencephaly 10.0
32 double outlet right ventricle 10.0
33 peritonitis 10.0
34 learning disability 10.0
35 cleft lip 10.0
36 absence of septum pellucidum 10.0
37 encephalocele 10.0
38 febrile seizures 10.0
39 neuronal migration disorders 10.0
40 cleft lip/palate 10.0
41 monosomy 21 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:

40
Brain, Heart, Eye, Cortex, Kidney, Skin

Publications for Colpocephaly

Articles related to Colpocephaly:

(show top 50) (show all 112)
# Title Authors PMID Year
1
Colpocephaly: a case report. 61 52
16799912 2006
2
Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature. 61
32046774 2020
3
Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient. 61
32549991 2020
4
Colpocephaly Diagnosed in a Neurologically Normal Adult in the Emergency Department. 61
31763604 2019
5
Cranial MR characteristics of Cerebral Palsy cases and correlation of findings with clinical results. 61
31990470 2019
6
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. 61
29883675 2018
7
Common findings on head computed tomography in neonates with confirmed congenital Zika syndrome. 61
30559553 2018
8
Transsphenoidal encephalocele, colpocephaly and corpus callosum agenesis in a midline cleft lip and palate patient: A very rare case. 61
30983739 2018
9
[Agenesis of the corpus callosum]. 61
29774379 2018
10
Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient. 61
27940755 2016
11
Mixed vascular nevus syndrome: a report of four new cases and a literature review. 61
27942471 2016
12
PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW. 61
27192890 2016
13
Asymptomatic colpocephaly and partial agenesis of corpus callosum. 61
25440066 2016
14
Relationship Between Epilepsy and Colpocephaly in Baboons (Papio hamadryas). 61
27298250 2016
15
Absent circle of Willis with vascular pollarding in an adult with colpocephaly: A developmental perspective. 61
26443299 2015
16
Attention Deficit Hyperactivity Disorder in a Patient With Congenital Mirror Movement Disorder and Colpocephaly. 61
26495087 2015
17
Morphometric variability of neuroimaging features in children with agenesis of the corpus callosum. 61
26209096 2015
18
Organising white matter in a brain without corpus callosum fibres. 61
25282054 2015
19
Prenatal diagnosis of colpocephaly with absent corpus callosum. 61
25468365 2015
20
Brain and behavior in 48, XXYY syndrome. 61
26106537 2015
21
Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells. 61
25510708 2014
22
Iniencephaly: Radiological and pathological features of a series of three cases. 61
25288843 2014
23
Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report. 61
25053001 2014
24
Case study: a patient with agenesis of the corpus callosum with minimal associated neuropsychological impairment. 61
23962137 2014
25
Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age. 61
23671008 2013
26
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. 61
24056535 2013
27
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. 61
23918729 2013
28
Shapiro syndrome. 61
24640213 2013
29
Colpocephaly in adults. 61
23704444 2013
30
[Heterotopic gray matter: A rare cause of epilepsy]. 61
23434142 2013
31
A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings. 61
24192683 2013
32
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. 61
23348762 2013
33
Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study. 61
23667827 2013
34
Microcephaly associated with Legg-Calvè-Perthes disease in two siblings. 61
22222936 2012
35
A rare case of colpocephaly with macrocephaly successfully treated with ventriculo-peritoneal shunting. 61
23248702 2012
36
Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum. 61
22430160 2012
37
Atypical meningioma in the posterior fossa associated with colpocephaly and agenesis of the corpus callosum. 61
22116445 2012
38
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. 61
21626675 2011
39
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. 61
21204217 2011
40
Cerebral abnormalities in infants with myelomeningocele. 61
21384289 2011
41
Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review. 61
21391441 2010
42
Familial hydrocephalus with normal cognition and distinctive radiological features. 61
20979187 2010
43
Fumaric aciduria: an overview and the first Brazilian case report. 61
20549362 2010
44
Septal agenesis and lissencephaly with colpocephaly presenting as the 'Crown Sign'. 61
21559156 2010
45
Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome. 61
20602308 2010
46
Ventriculomegaly, intrauterine growth restriction, and congenital heart defects as salient prenatal sonographic findings of Miller-Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2 --> pter) in a fetus. 61
20466299 2010
47
Agenesis of the corpus callosum in fetuses with mild ventriculomegaly: role of MR imaging. 61
20017009 2010
48
Clinical delineation of a patient with trisomy 1q32.qter and monosomy 5p resulting from a familial translocation 1;5. 61
21290965 2010
49
A case with a rare chromosomal abnormality: isochromosome 18p. 61
20420032 2010
50
Panayiotopoulos syndrome with coincidental brain lesions. 61
19736167 2009

Variations for Colpocephaly

ClinVar genetic disease variations for Colpocephaly:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C2CD3 NM_001286577.1(C2CD3):c.917T>C (p.Leu306Pro)SNV Uncertain significance 598992 rs762278054 11:73849803-73849803 11:74138758-74138758

Expression for Colpocephaly

Search GEO for disease gene expression data for Colpocephaly.

Pathways for Colpocephaly

GO Terms for Colpocephaly

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.62 TUBA8 C2CD3

Sources for Colpocephaly

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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