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MCID: DST008
MIFTS: 29

Diastematomyelia

Categories: Fetal diseases, Neuronal diseases, Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Diastematomyelia

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MalaCards integrated aliases for Diastematomyelia:

Name: Diastematomyelia 57 76 59 73
Split Cord Malformation Type 1 59
Scm Type 1 59

Characteristics:

OMIM:

57
Inheritance:
possibly autosomal recessive


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34 33
Orphanet: 59  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 222500
Orphanet 59 ORPHA1671
UMLS via Orphanet 74 C0011999
ICD10 via Orphanet 34 Q06.2
MedGen 42 C0011999
ICD10 33 Q06.2
UMLS 73 C0011999
Sources

Summaries for Diastematomyelia

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MalaCards based summary : Diastematomyelia, also known as split cord malformation type 1, is related to split spinal cord malformation and tethered spinal cord syndrome. The drugs Acetazolamide and diuretics have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and bone, and related phenotypes are scoliosis and generalized hirsutism

Wikipedia : 76 Diastematomyelia (occasionally diastomyelia) is a congenital disorder in which a part of the spinal cord... more...

Description from OMIM: 222500
Sources

Related Diseases for Diastematomyelia

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 split spinal cord malformation 11.6
2 tethered spinal cord syndrome 11.4
3 scoliosis 10.3
4 klippel-feil syndrome 10.2
5 teratoma 10.2
6 neural tube defects 10.1
7 myelomeningocele 10.1
8 syringomyelia 10.1
9 epidermoid cysts 10.1
10 meningocele 10.1
11 wilms tumor 6 10.0
12 hydrocephalus 10.0
13 respiratory failure 10.0
14 paraplegia 10.0
15 scoliosis, isolated 1 9.8
16 spondylocostal dysostosis 1, autosomal recessive 9.8
17 wildervanck syndrome 9.8
18 sacral defect with anterior meningocele 9.8
19 neural tube defects, folate-sensitive 9.8
20 psoriatic arthritis 9.8
21 lipomyelomeningocele 9.8
22 arteriovenous fistula 9.8
23 arthritis 9.8
24 idiopathic scoliosis 9.8
25 spina bifida occulta 9.8
26 cloacal exstrophy 9.8
27 clubfoot 9.8
28 spondylolysis 9.8
29 spinal cord intramedullary teratoma 9.8
30 radiculopathy 9.8
31 meningitis 9.8
32 aplasia cutis congenita 9.8
33 spondylocostal dysostosis 1 9.8
34 tethered cord syndrome 9.8
35 syringohydromyelia 9.8
36 hydromyelia 9.8
37 neurenteric cyst 9.8
38 myelocystocele 9.8

Graphical network of the top 20 diseases related to Diastematomyelia:



Diseases related to Diastematomyelia
Sources

Symptoms & Phenotypes for Diastematomyelia

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Symptoms via clinical synopsis from OMIM:

57
Neurologic:
diastematomyelia
divided spinal cord
spinal cord dysraphism


Clinical features from OMIM:

222500

Human phenotypes related to Diastematomyelia:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
2 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
3 diastomatomyelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100563
4 abnormality of the nervous system 32 HP:0000707
Sources

Drugs & Therapeutics for Diastematomyelia

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Drugs for Diastematomyelia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
2 diuretics Phase 2
3 Natriuretic Agents Phase 2
4 Carbonic Anhydrase Inhibitors Phase 2
5 Anticonvulsants Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Acetazolamide & Position in CSF Leakage and Collection and Wound Dehiscence Unknown status NCT01867268 Phase 2 Acetazolamide

Search NIH Clinical Center for Diastematomyelia

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Genetic Tests for Diastematomyelia

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Anatomical Context for Diastematomyelia

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MalaCards organs/tissues related to Diastematomyelia:

41
Spinal Cord, Skin, Bone
Sources

Publications for Diastematomyelia

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Articles related to Diastematomyelia:

(show top 50) (show all 267)
# Title Authors Year
1
Contiguous Diastematomyelia with lipomyelomeningocele in each hemicord-An exceptional case of spinal dysraphism. ( 30529523 )
2018
2
Split cord malformation type 1 with two hemicord lesions. ( 29797061 )
2018
3
Diastematomyelia and late onset presentation: a case report of a 72-year-old woman. ( 28534605 )
2017
4
Diastematomyelia in a 3-year-old girl. ( 28847880 )
2017
5
The Value of Prenatal Ultrasonographic Diagnosis of Diastematomyelia. ( 28304101 )
2017
6
Long Segment Bony Spur in Split Cord Malformation Type 1. ( 27770428 )
2017
7
A unique case of split cord malformation type 1 with three different types of bony spurs. ( 28484560 )
2017
8
Klippel-Feil Syndrome With Spinal Dysraphism: Diastematomyelia on 18F-NaF Bone PET, CT, and MRI Imaging. ( 26859203 )
2016
9
Previously undiagnosed diastematomyelia with bony spur as a cause of back pain in a 49-year-old patient with known psoriatic arthritis. ( 27665760 )
2016
10
Poster 375 Adult Onset Lumbar Radiculopathy Secondary to Type II Diastematomyelia: A Case Report. ( 27673127 )
2016
11
Diastematomyelia: Split Cord Malformation. ( 26771912 )
2016
12
Corrective Surgery for Congenital Scoliosis Associated with Split Cord Malformation: It May Be Safe to Leave Diastematomyelia Untreated in Patients with Intact or Stable Neurological Status. ( 27252437 )
2016
13
Diastematomyelia as an Incidental MRI Finding. ( 27647216 )
2016
14
Expert's comment concerning Grand Rounds case entitled "A case of severe and rigid congenital thoracolumbar lordoscoliosis with diastematomyelia presenting with type 2 respiratory failure: managed by staged correction with controlled axial traction" by V. Kanagaraju et al. (Eur Spine J; doi:10.1007/s00586-014-3624-0). ( 27613007 )
2016
15
Fetal diastematomyelia associated with vertebral malformation: ultrasound, MRI, and pathomorphological findings. ( 26576982 )
2015
16
Faun Tail Overlying Spinal Dysraphism (Diastematomyelia) at the Mid Thoracic Level: Cosmetic Improvement Achieved with Diode Laser Epilation. ( 26677308 )
2015
17
Pseudodystonic Posture Secondary to Klippel-Feil Syndrome and Diastematomyelia. ( 27352284 )
2015
18
Diastematomyelia with hemimyelomeningocele: An exceptional and complex spinal dysraphism. ( 26557164 )
2015
19
First trimester diagnosis of cervico-thoracic diastematomyelia and diplomyelia using three-dimensional ultrasound. ( 26438550 )
2015
20
Diastematomyelia with the owl sign (Type I split cord malformation). ( 26008682 )
2015
21
Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. ( 26239763 )
2015
22
Diastematomyelia: a surgical case with long-term follow-up. ( 25705341 )
2015
23
Spinal Diastematomyelia: A means of identification of charred remains. ( 24365678 )
2014
24
CT and MRI features of patients with diastematomyelia. ( 24796446 )
2014
25
A case of severe and rigid congenital thoracolumbar lordoscoliosis with diastematomyelia presenting with type 2 respiratory failure: managed by staged correction with controlled axial traction. ( 25377094 )
2014
26
L3-L5 Teratological Spondylolysis with Diastematomyelia and L4 Radicular Syndrome followed by Spondyloschisis without Myelomeningocele due to Somato-arcuate Shifting. ( 25264313 )
2014
27
Diastematomyelia - a report of two cases. ( 24959492 )
2014
28
Duplicated pelvic floor musculature and diastematomyelia in a cloacal exstrophy patient. ( 25426220 )
2014
29
The association of the epidermoid cyst of the filum terminale, intradural spinal lipoma, tethered cord, dermal sinus tract, and type I diastematomyelia in a child. ( 25150211 )
2014
30
Diastematomyelia in congenital scoliosis: a report of two cases. ( 24535633 )
2014
31
Prenatal diagnosis and clinicopathologic examination of a case with diastematomyelia. ( 24712476 )
2013
32
Intracranial translucency and spinal cord defects: early prenatal diagnosis of diastematomyelia. ( 23980231 )
2013
33
Diastematomyelia presenting in adulthood as back pain. ( 21904190 )
2013
34
Complex split cord malformation type 1 with mulitiple lipomas involving the split cord. ( 24435024 )
2013
35
Diastematomyelia Presenting With no Pain in a 53-Year-Old Man: A Case Report. ( 24349753 )
2013
36
A Sacral Mass in a Newborn: A Variant of Type II Diastematomyelia with Triple Splitting of the Cord. ( 23738178 )
2013
37
Diastematomyelia: a 35-year experience. ( 23492975 )
2013
38
Prenatal diagnosis of diastematomyelia: a case report and review of the literature. ( 21952985 )
2012
39
Use of a synthetic dural substitute to prevent ventral retethering in the management of diastematomyelia. ( 22245274 )
2012
40
Unique sacral location of an arteriovenous fistula of the filum terminale associated with diastematomyelia and lowered spinal cords. ( 21701867 )
2012
41
Diastematomyelia: a retrospective review of 138 patients. ( 22371545 )
2012
42
Adult presentation of diastematomyelia: a case report. ( 21571568 )
2011
43
Jarcho-Levin syndrome with diastematomyelia: A case report and review of literature. ( 22408667 )
2011
44
Diastematomyelia: pre- and postnatal multimodal diagnostic approach. ( 22338388 )
2011
45
Mondini malformation associated with diastematomyelia and presenting with recurrent meningitis. ( 21421905 )
2011
46
Diastematomyelia - a diagnostic and therapeutic problem. Case study. ( 20675868 )
2010
47
MRI diagnosis of diastematomyelia in a 78-year-old woman: Case report and literature review. ( 22802781 )
2010
48
Sonographic findings in a neonate with diastematomyelia and a tethered spinal cord. ( 20733193 )
2010
49
Acquired Chiari I malformation in a child with corrected diastematomyelia disappeared after thickened filum division. ( 21412028 )
2010
50
Diastematomyelia and tumor in adults: report of two cases and literature review. ( 21030887 )
2010
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Variations for Diastematomyelia

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Expression for Diastematomyelia

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Search GEO for disease gene expression data for Diastematomyelia.
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Pathways for Diastematomyelia

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GO Terms for Diastematomyelia

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Sources for Diastematomyelia

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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