MCID: CRN088
MIFTS: 37

Craniorachischisis

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Craniorachischisis

MalaCards integrated aliases for Craniorachischisis:

Name: Craniorachischisis 38 53 59 55 40

Characteristics:

Orphanet epidemiological data:

59
craniorachischisis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA63260
UMLS via Orphanet 74 C0152426
ICD10 via Orphanet 34 Q00.1
ICD10 33 Q00.1

Summaries for Craniorachischisis

NIH Rare Diseases : 53 Craniorachischisis is the most severe type of neural tube defect in which both the brain and spinal cord remain open; both anencephaly and spina bifida (from the cervical region to the lumbar or sacral region of the spine) are present. Fetuses with craniorachischisis often miscarry during pregnancy or die shortly after birth. The cause is thought to be multifactorial, which means that a combination of genetic and non-genetic factors play a role.

MalaCards based summary : Craniorachischisis is related to neural tube defects and anencephaly. An important gene associated with Craniorachischisis is DACT1 (Dishevelled Binding Antagonist Of Beta Catenin 1), and among its related pathways/superpathways is Signaling by Wnt. Affiliated tissues include Neural Tube, spinal cord and brain, and related phenotypes are congenital diaphragmatic hernia and omphalocele

Wikipedia : 76 Rachischisis (Greek: \"rhachis - ῥάχις\" - spine, and \"schisis - σχίσις\" - split) is a developmental... more...

Related Diseases for Craniorachischisis

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 28.4 CELSR1 DACT1 SCRIB VANGL2
2 anencephaly 26.7 CELSR1 DACT1 SCRIB VANGL2
3 pentalogy of cantrell 10.1
4 sirenomelia 10.0
5 omphalocele 9.9
6 iniencephaly 9.9
7 diprosopus 9.9
8 diaphragmatic hernia, congenital 9.8
9 fryns syndrome 9.8
10 gastroschisis 9.8
11 aging 9.8
12 neural tube defects, folate-sensitive 9.8
13 heart disease 9.8
14 exencephaly 9.8
15 myelomeningocele 8.0 CELSR1 DACT1 SCRIB VANGL2

Graphical network of the top 20 diseases related to Craniorachischisis:



Diseases related to Craniorachischisis

Symptoms & Phenotypes for Craniorachischisis

Human phenotypes related to Craniorachischisis:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
2 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
3 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
4 anencephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002323
5 myelomeningocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0002475
6 cervical spina bifida 59 32 hallmark (90%) Very frequent (99-80%) HP:0005857
7 bifid sternum 59 32 occasional (7.5%) Occasional (29-5%) HP:0010309
8 sirenomelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010497
9 spinal dysraphism 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Craniorachischisis:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.76 CELSR1 DACT1 SCRIB VANGL2
2 growth/size/body region MP:0005378 9.73 CELSR1 DACT1 SCRIB VANGL2
3 craniofacial MP:0005382 9.67 CELSR1 SCRIB VANGL2
4 limbs/digits/tail MP:0005371 9.67 CELSR1 DACT1 SCRIB VANGL2
5 digestive/alimentary MP:0005381 9.65 DACT1 SCRIB VANGL2
6 nervous system MP:0003631 9.62 CELSR1 DACT1 SCRIB VANGL2
7 hearing/vestibular/ear MP:0005377 9.58 CELSR1 SCRIB VANGL2
8 no phenotypic analysis MP:0003012 9.43 DACT1 SCRIB VANGL2
9 renal/urinary system MP:0005367 9.33 DACT1 SCRIB VANGL2
10 reproductive system MP:0005389 9.26 CELSR1 DACT1 SCRIB VANGL2
11 respiratory system MP:0005388 8.8 CELSR1 SCRIB VANGL2

Drugs & Therapeutics for Craniorachischisis

Search Clinical Trials , NIH Clinical Center for Craniorachischisis

Genetic Tests for Craniorachischisis

Anatomical Context for Craniorachischisis

MalaCards organs/tissues related to Craniorachischisis:

41
Spinal Cord, Brain, Heart, Lung
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Craniorachischisis:
# Tissue Anatomical CompartmentCell Relevance
1 Neural Tube Neural Tube Affected by disease

Publications for Craniorachischisis

Articles related to Craniorachischisis:

(show all 29)
# Title Authors Year
1
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study. ( 29390297 )
2017
2
A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations. ( 28266009 )
2017
3
Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome. ( 27064748 )
2016
4
Craniorachischisis, gastroschisis, and a branchial sinus defect: a case report. ( 25059025 )
2014
5
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. ( 22095531 )
2012
6
Complete Pentalogy of Cantrell with craniorachischisis: a case report. ( 22905305 )
2012
7
Craniorachischisis with a variant of pentalogy of Cantrell, with lung extrophy. ( 21812640 )
2011
8
Craniorachischisis and omphalocele in a stillborn cynomolgus monkey (Macaca fascicularis). ( 21567905 )
2011
9
Craniorachischisis and heterotaxia with heart disease in twins: link or change nature? ( 21087431 )
2010
10
Craniorachischisis totalis. ( 21799625 )
2010
11
Mosaic expression of Med12 in female mice leads to exencephaly, spina bifida, and craniorachischisis. ( 20589884 )
2010
12
Craniorachischisis totalis: a case report and review of the literature. ( 19129707 )
2009
13
Concomitant craniorachischisis and omphalocele in a male fetus: prenatal magnetic resonance imaging findings and literature review. ( 19797022 )
2009
14
Prenatal diagnosis of pentalogy of cantrell with craniorachischisis by three-dimensional ultrasonography in the first trimester. ( 19797031 )
2009
15
Diprosopus, craniorachischisis, arthrogryposis, and other associated anomalies in a stillborn lamb. ( 19052501 )
2008
16
Pentalogy of cantrell with craniorachischisis: MRI and ultrasonography findings. ( 19085750 )
2008
17
Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis. ( 16134161 )
2005
18
Prevalence of craniorachischisis in a Texas-Mexico border population. ( 14991916 )
2004
19
Transvaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 9 weeks' gestation. ( 14689545 )
2003
20
Identification of the mouse Loop-tail gene: a model for human craniorachischisis? ( 12111717 )
2002
21
Sirenomelia sequence associated with craniorachischisis totalis, limb reduction and primitive heart. ( 11568383 )
2001
22
Endovaginal sonographic diagnosis of craniorachischisis at 13 weeks of gestation. ( 7880436 )
1994
23
Endovaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 13 weeks, menstrual age. ( 8381132 )
1993
24
Histological features of axial structures during embryonic and fetal stages of human craniorachischisis. ( 8213088 )
1993
25
First trimester sonographic diagnosis of diprosopus twins with craniorachischisis. ( 1309548 )
1992
26
Craniorachischisis totalis and sirenomelia. ( 1621765 )
1992
27
All-or-none craniorachischisis in Loop-tail mutant mouse chimeras. ( 2081461 )
1990
28
Craniorachischisis in a squirrel monkey. ( 3586610 )
1987
29
Craniorachischisis in a partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation, t(6p plus;11q minus). ( 4134620 )
1974

Variations for Craniorachischisis

Expression for Craniorachischisis

Search GEO for disease gene expression data for Craniorachischisis.

Pathways for Craniorachischisis

Pathways related to Craniorachischisis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.56 DACT1 SCRIB VANGL2

GO Terms for Craniorachischisis

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

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 8.96 SCRIB VANGL2
2 cell-cell junction GO:0005911 8.62 SCRIB VANGL2

Biological processes related to Craniorachischisis according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.8 CELSR1 DACT1 SCRIB VANGL2
2 anterior/posterior pattern specification GO:0009952 9.57 CELSR1 VANGL2
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.56 CELSR1 VANGL2
4 Rho protein signal transduction GO:0007266 9.55 CELSR1 VANGL2
5 regulation of actin cytoskeleton organization GO:0032956 9.54 CELSR1 VANGL2
6 wound healing GO:0042060 9.54 CELSR1 SCRIB VANGL2
7 hair follicle development GO:0001942 9.52 CELSR1 VANGL2
8 regulation of Wnt signaling pathway GO:0030111 9.51 DACT1 VANGL2
9 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.48 SCRIB VANGL2
10 establishment of planar polarity GO:0001736 9.46 CELSR1 VANGL2
11 planar cell polarity pathway involved in neural tube closure GO:0090179 9.43 CELSR1 VANGL2
12 neural tube closure GO:0001843 9.43 CELSR1 SCRIB VANGL2
13 apical protein localization GO:0045176 9.4 CELSR1 VANGL2
14 establishment of body hair planar orientation GO:0048105 9.32 CELSR1 VANGL2
15 lateral sprouting involved in lung morphogenesis GO:0060490 9.16 CELSR1 VANGL2
16 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 8.96 CELSR1 VANGL2
17 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 8.62 CELSR1 VANGL2

Sources for Craniorachischisis

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
Content
Loading form....