MCID: CRN088
MIFTS: 37

Craniorachischisis

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Craniorachischisis

MalaCards integrated aliases for Craniorachischisis:

Name: Craniorachischisis 52 58 54 39 32

Characteristics:

Orphanet epidemiological data:

58
craniorachischisis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 32 Q00.1
ICD10 via Orphanet 33 Q00.1
UMLS via Orphanet 72 C0152426
Orphanet 58 ORPHA63260

Summaries for Craniorachischisis

NIH Rare Diseases : 52 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 anencephaly and myelomeningocele

Wikipedia : 74 Rachischisis (Greek: "rhachis - ῥάχις" - spine, and "schisis - σχίσις" - split) is a developmental birth... more...

Related Diseases for Craniorachischisis

Graphical network of the top 20 diseases related to Craniorachischisis:



Diseases related to Craniorachischisis

Symptoms & Phenotypes for Craniorachischisis

Human phenotypes related to Craniorachischisis:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002323
2 myelomeningocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002475
3 cervical spina bifida 58 31 hallmark (90%) Very frequent (99-80%) HP:0005857
4 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
5 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
6 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
7 sirenomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010497
8 bifid sternum 58 31 occasional (7.5%) Occasional (29-5%) HP:0010309
9 spinal dysraphism 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Craniorachischisis:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.76 CELSR1 DACT1 SCRIB VANGL2
2 limbs/digits/tail MP:0005371 9.71 CELSR1 DACT1 SCRIB VANGL2
3 craniofacial MP:0005382 9.67 CELSR1 SCRIB VANGL2
4 nervous system MP:0003631 9.67 CELSR1 DACT1 SCRIB VANGL2
5 digestive/alimentary MP:0005381 9.65 DACT1 SCRIB VANGL2
6 hearing/vestibular/ear MP:0005377 9.61 CELSR1 SCRIB VANGL2
7 no phenotypic analysis MP:0003012 9.5 DACT1 SCRIB VANGL2
8 reproductive system MP:0005389 9.46 CELSR1 DACT1 SCRIB VANGL2
9 renal/urinary system MP:0005367 9.43 DACT1 SCRIB VANGL2
10 respiratory system MP:0005388 9.13 CELSR1 SCRIB VANGL2
11 skeleton MP:0005390 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:

40
Spinal Cord, Brain, Heart, Lung, Testes
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 top 50) (show all 135)
# Title Authors PMID Year
1
Molecular and cellular mechanisms underlying neural tube defects in the loop-tail mutant mouse. 54 61
20329788 2010
2
Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification. 61 54
11709546 2001
3
Craniorachischisis with Exencephaly. 61
31986946 2020
4
A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case. 61
31184807 2019
5
Variants identified in PTK7 associated with neural tube defects. 61
30689296 2019
6
Insights into the Etiology of Mammalian Neural Tube Closure Defects from Developmental, Genetic and Evolutionary Studies. 61
30134561 2018
7
Identification and characterization of a novel chemically induced allele at the planar cell polarity gene Vangl2. 61
29063958 2018
8
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. 61
29205322 2018
9
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis. 61
30622827 2018
10
Multidisciplinary approach of assessing malformed fetuses exemplified in a rare case of pentalogy of Cantrell associated with craniorachischisis, pulmonary extrophy and right-sided aortic arch with aberrant brachiocephalic artery. 61
30534833 2018
11
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study. 61
29390297 2017
12
A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations. 61
28266009 2017
13
Diprosopus: Systematic review and report of two cases. 61
27704687 2016
14
[Congenital anomalies of poor prognosis. Genetics Consensus Committee]. 61
27234469 2016
15
Newborn with meroanencephaly: Surviving all odds. 61
27857793 2016
16
Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome. 61
27064748 2016
17
Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans. 61
26368655 2015
18
A Study on The Incidence of Neural Tube Defects in A Tertiary Care Hospital Over A Period of Five Years. 61
26393168 2015
19
Epidemiology of neural tube defect subtypes in Tunisia, 1991-2011. 61
25110062 2014
20
Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair membrane targeting. 61
25068569 2014
21
Distinct apical and basolateral mechanisms drive planar cell polarity-dependent convergent extension of the mouse neural plate. 61
24703875 2014
22
Craniorachischisis, gastroschisis, and a branchial sinus defect: a case report. 61
25059025 2014
23
Morphogenetic movements in the neural plate and neural tube: mouse. 61
24902834 2014
24
Oct4 is required ~E7.5 for proliferation in the primitive streak. 61
24244203 2013
25
How to form and close the brain: insight into the mechanism of cranial neural tube closure in mammals. 61
23242429 2013
26
Neural tube defects: recent advances, unsolved questions, and controversies. 61
23790957 2013
27
Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects. 61
23592378 2013
28
Postnatal refinement of auditory hair cell planar polarity deficits occurs in the absence of Vangl2. 61
23986237 2013
29
Syndecan 4 interacts genetically with Vangl2 to regulate neural tube closure and planar cell polarity. 61
23760952 2013
30
Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects. 61
23836490 2013
31
Neural tube defects--disorders of neurulation and related embryonic processes. 61
24009034 2013
32
Loop-tail phenotype in heterozygous mice and neural tube defects in homozygous mice result from a nonsense mutation in the Vangl2 gene. 61
23359061 2013
33
Mutations in planar cell polarity gene SCRIB are associated with spina bifida. 61
23922697 2013
34
Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice. 61
23267094 2013
35
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects. 61
23024041 2012
36
A comparison of the teratogenicity of methylmercury and selenomethionine injected into bird eggs. 61
22042039 2012
37
First trimester diagnosis of parapagus diprosopus dibrachius dipus twins with cranirachischisis totalis by three-dimensional ultrasound. 61
22176594 2012
38
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 61
22095531 2012
39
An expanding role of Vangl proteins in embryonic development. 61
23140632 2012
40
Convergent extension analysis in mouse whole embryo culture. 61
22218898 2012
41
Complete Pentalogy of Cantrell with craniorachischisis: a case report. 61
22905305 2012
42
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 61
21840926 2011
43
Human neural tube defects: genetic causes and prevention. 61
21674647 2011
44
Craniorachischisis and omphalocele in a stillborn cynomolgus monkey (Macaca fascicularis). 61
21567905 2011
45
A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene. 61
21404367 2011
46
Cdx mediates neural tube closure through transcriptional regulation of the planar cell polarity gene Ptk7. 61
21350009 2011
47
A phenotype-driven ENU mutagenesis screen identifies novel alleles with functional roles in early mouse craniofacial development. 61
21305688 2011
48
Craniorachischisis with a variant of pentalogy of Cantrell, with lung extrophy. 61
21812640 2011
49
Craniorachischisis and heterotaxia with heart disease in twins: link or change nature? 61
21087431 2010
50
The novel mouse mutant, chuzhoi, has disruption of Ptk7 protein and exhibits defects in neural tube, heart and lung development and abnormal planar cell polarity in the ear. 61
20704721 2010

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 VANGL2 SCRIB DACT1

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 VANGL2 SCRIB
2 cell-cell junction GO:0005911 8.62 VANGL2 SCRIB

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.81 VANGL2 SCRIB DACT1 CELSR1
2 cell-cell adhesion GO:0098609 9.59 SCRIB CELSR1
3 anterior/posterior pattern specification GO:0009952 9.58 VANGL2 CELSR1
4 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.58 VANGL2 CELSR1
5 regulation of actin cytoskeleton organization GO:0032956 9.57 VANGL2 CELSR1
6 Rho protein signal transduction GO:0007266 9.56 VANGL2 CELSR1
7 hair follicle development GO:0001942 9.55 VANGL2 CELSR1
8 regulation of Wnt signaling pathway GO:0030111 9.54 VANGL2 DACT1
9 wound healing GO:0042060 9.54 VANGL2 SCRIB CELSR1
10 inner ear receptor cell stereocilium organization GO:0060122 9.52 VANGL2 SCRIB
11 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.49 VANGL2 SCRIB
12 post-anal tail morphogenesis GO:0036342 9.48 VANGL2 SCRIB
13 establishment of planar polarity GO:0001736 9.46 VANGL2 CELSR1
14 apical protein localization GO:0045176 9.43 VANGL2 CELSR1
15 neural tube closure GO:0001843 9.43 VANGL2 SCRIB CELSR1
16 planar cell polarity pathway involved in neural tube closure GO:0090179 9.4 VANGL2 CELSR1
17 establishment of body hair planar orientation GO:0048105 9.32 VANGL2 CELSR1
18 lateral sprouting involved in lung morphogenesis GO:0060490 9.16 VANGL2 CELSR1
19 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 8.96 VANGL2 CELSR1
20 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 8.62 VANGL2 CELSR1

Sources for Craniorachischisis

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
Content
Loading form....