MCID: CRN088
MIFTS: 34

Craniorachischisis malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Craniorachischisis

Aliases & Descriptions for Craniorachischisis:

Name: Craniorachischisis 38 50 56 52

Characteristics:

Orphanet epidemiological data:

56
craniorachischisis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA63260
UMLS via Orphanet 70 C0152426
ICD10 via Orphanet 34 Q00.1
ICD10 33 Q00.1

Summaries for Craniorachischisis

NIH Rare Diseases : 50 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. last updated: 11/5/2013

MalaCards based summary : Craniorachischisis is related to neural tube defects and pentalogy of cantrell, and has symptoms including anal atresia, anencephaly and congenital diaphragmatic hernia. An important gene associated with Craniorachischisis is DACT1 (Dishevelled Binding Antagonist Of Beta Catenin 1), and among its related pathways/superpathways are Signaling by Wnt and Human Thyroid Stimulating Hormone (TSH) signaling pathway. Affiliated tissues include Neural Tube, spinal cord and brain, and related phenotypes are embryo and hearing/vestibular/ear

Wikipedia : 71 Rachischisis (Greek: \"rhachis - ῥάχις\" - spine, and \"schisis - σχίσις\" - split) is a... more...

Related Diseases for Craniorachischisis

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

(show all 16)
id Related Disease Score Top Affiliating Genes
1 neural tube defects 11.2
2 pentalogy of cantrell 10.0
3 omphalocele 9.8
4 iniencephaly 9.8
5 sirenomelia 9.8
6 diprosopus 9.8
7 fryns syndrome 9.7
8 anencephaly 9.7
9 gastroschisis 9.7
10 heart disease 9.7
11 congenital diaphragmatic hernia 9.7
12 exencephaly 9.7
13 hmg-coa synthase-2 deficiency 9.4 CELSR1 DACT1 SCRIB VANGL2
14 autosomal dominant sideroblastic anemia 9.4 CELSR1 DACT1 SCRIB VANGL2
15 craniofaciofrontodigital syndrome 9.3 CELSR1 DACT1 SCRIB VANGL2
16 crohn's disease 9.2 CELSR1 DACT1 MIR937 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:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anal atresia 56 32 Occasional (29-5%) HP:0002023
2 anencephaly 56 32 Very frequent (99-80%) HP:0002323
3 congenital diaphragmatic hernia 56 32 Occasional (29-5%) HP:0000776
4 omphalocele 56 32 Occasional (29-5%) HP:0001539
5 sirenomelia 56 32 Occasional (29-5%) HP:0010497
6 myelomeningocele 56 32 Very frequent (99-80%) HP:0002475
7 cervical spina bifida 56 32 Very frequent (99-80%) HP:0005857
8 bifid sternum 56 32 Occasional (29-5%) HP:0010309
9 spinal dysraphism 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Craniorachischisis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 CELSR1 DACT1 SCRIB VANGL2
2 hearing/vestibular/ear MP:0005377 9.33 CELSR1 SCRIB VANGL2
3 limbs/digits/tail MP:0005371 9.26 CELSR1 DACT1 SCRIB VANGL2
4 reproductive system MP:0005389 8.92 CELSR1 DACT1 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:

39
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:
id Tissue Anatomical CompartmentCell Relevance
1 Neural Tube Neural Tube Affected by disease

Publications for Craniorachischisis

Articles related to Craniorachischisis:

(show all 28)
id Title Authors Year
1
A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations. ( 28266009 )
2017
2
Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome. ( 27064748 )
2016
3
Craniorachischisis, gastroschisis, and a branchial sinus defect: a case report. ( 25059025 )
2014
4
Complete Pentalogy of Cantrell with craniorachischisis: a case report. ( 22905305 )
2012
5
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. ( 22095531 )
2012
6
Craniorachischisis with a variant of pentalogy of Cantrell, with lung extrophy. ( 21812640 )
2011
7
Craniorachischisis and omphalocele in a stillborn cynomolgus monkey (Macaca fascicularis). ( 21567905 )
2011
8
Craniorachischisis and heterotaxia with heart disease in twins: link or change nature? ( 21087431 )
2010
9
Mosaic expression of Med12 in female mice leads to exencephaly, spina bifida, and craniorachischisis. ( 20589884 )
2010
10
Craniorachischisis totalis. ( 21799625 )
2010
11
Craniorachischisis totalis: a case report and review of the literature. ( 19129707 )
2009
12
Prenatal diagnosis of pentalogy of cantrell with craniorachischisis by three-dimensional ultrasonography in the first trimester. ( 19797031 )
2009
13
Concomitant craniorachischisis and omphalocele in a male fetus: prenatal magnetic resonance imaging findings and literature review. ( 19797022 )
2009
14
Pentalogy of cantrell with craniorachischisis: MRI and ultrasonography findings. ( 19085750 )
2008
15
Diprosopus, craniorachischisis, arthrogryposis, and other associated anomalies in a stillborn lamb. ( 19052501 )
2008
16
Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis. ( 16134161 )
2005
17
Prevalence of craniorachischisis in a Texas-Mexico border population. ( 14991916 )
2004
18
Transvaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 9 weeks' gestation. ( 14689545 )
2003
19
Identification of the mouse Loop-tail gene: a model for human craniorachischisis? ( 12111717 )
2002
20
Sirenomelia sequence associated with craniorachischisis totalis, limb reduction and primitive heart. ( 11568383 )
2001
21
Endovaginal sonographic diagnosis of craniorachischisis at 13 weeks of gestation. ( 7880436 )
1994
22
Endovaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 13 weeks, menstrual age. ( 8381132 )
1993
23
Histological features of axial structures during embryonic and fetal stages of human craniorachischisis. ( 8213088 )
1993
24
Craniorachischisis totalis and sirenomelia. ( 1621765 )
1992
25
First trimester sonographic diagnosis of diprosopus twins with craniorachischisis. ( 1309548 )
1992
26
All-or-none craniorachischisis in Loop-tail mutant mouse chimeras. ( 2081461 )
1990
27
Craniorachischisis in a squirrel monkey. ( 3586610 )
1987
28
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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.69 DACT1 MIR937 SCRIB VANGL2
2 10.79 MIR937 SCRIB

GO Terms for Craniorachischisis

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

id 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 16)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.8 CELSR1 DACT1 SCRIB VANGL2
2 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.56 CELSR1 VANGL2
3 anterior/posterior pattern specification GO:0009952 9.55 CELSR1 VANGL2
4 Rho protein signal transduction GO:0007266 9.54 CELSR1 VANGL2
5 wound healing GO:0042060 9.54 CELSR1 SCRIB VANGL2
6 regulation of actin cytoskeleton organization GO:0032956 9.52 CELSR1 VANGL2
7 hair follicle development GO:0001942 9.51 CELSR1 VANGL2
8 neural tube closure GO:0001843 9.5 CELSR1 SCRIB 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 apical protein localization GO:0045176 9.4 CELSR1 VANGL2
13 establishment of body hair planar orientation GO:0048105 9.26 CELSR1 VANGL2
14 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.16 CELSR1 VANGL2
15 lateral sprouting involved in lung morphogenesis GO:0060490 8.96 CELSR1 VANGL2
16 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 8.62 CELSR1 VANGL2

Sources for Craniorachischisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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