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MCID: DST008
MIFTS: 32

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 58 77 60 74
Split Cord Malformation Type 1 60
Scm Type 1 60

Characteristics:

OMIM:

58
Inheritance:
possibly autosomal recessive


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 58 222500
ICD10 34 Q06.2
ICD10 via Orphanet 35 Q06.2
UMLS via Orphanet 75 C0011999
Orphanet 60 ORPHA1671
MedGen 43 C0011999
UMLS 74 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 Carbonic Anhydrase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and bone, and related phenotypes are diastomatomyelia and scoliosis

Wikipedia : 77 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 11.5
3 scoliosis 10.3
4 klippel-feil syndrome 10.3
5 teratoma 10.2
6 neural tube defects 10.2
7 myelomeningocele 10.2
8 syringomyelia 10.2
9 epidermoid cysts 10.1
10 meningocele 10.1
11 wilms tumor 5 10.0
12 wilms tumor 6 10.0
13 hydrocephalus 10.0
14 respiratory failure 10.0
15 paraplegia 10.0
16 scoliosis, isolated 1 9.9
17 spondylocostal dysostosis 1, autosomal recessive 9.9
18 wildervanck syndrome 9.9
19 sacral defect with anterior meningocele 9.9
20 neural tube defects, folate-sensitive 9.9
21 psoriatic arthritis 9.9
22 lipomyelomeningocele 9.9
23 arteriovenous fistula 9.9
24 arthritis 9.9
25 idiopathic scoliosis 9.9
26 spina bifida occulta 9.9
27 cloacal exstrophy 9.9
28 clubfoot 9.9
29 spondylolysis 9.9
30 radiculopathy 9.9
31 meningitis 9.9
32 aplasia cutis congenita 9.9
33 spondylocostal dysostosis 1 9.9
34 tethered cord syndrome 9.9
35 syringohydromyelia 9.9
36 hydromyelia 9.9
37 neurenteric cyst 9.9
38 myelocystocele 9.9

Graphical network of the top 20 diseases related to Diastematomyelia:



Diseases related to Diastematomyelia
Sources

Symptoms & Phenotypes for Diastematomyelia

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Human phenotypes related to Diastematomyelia:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diastomatomyelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100563
2 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
3 generalized hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0002230
4 abnormality of the nervous system 33 HP:0000707

Symptoms via clinical synopsis from OMIM:

58
Neurologic:
diastematomyelia
divided spinal cord
spinal cord dysraphism

Clinical features from OMIM:

222500
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 Carbonic Anhydrase Inhibitors Phase 2
3 Natriuretic Agents Phase 2
4 diuretics 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

Sources

Genetic Tests for Diastematomyelia

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Sources

Anatomical Context for Diastematomyelia

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MalaCards organs/tissues related to Diastematomyelia:

42
Spinal Cord, Skin, Bone
Sources

Publications for Diastematomyelia

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Articles related to Diastematomyelia:

(show top 50) (show all 270)
# Title Authors Year
1
Excision and short segment fusion of a double ipsilateral lumbar hemivertebrae associated with a diastematomyelia and fixed pelvic obliquity. ( 30718132 )
2019
2
Contiguous Diastematomyelia with lipomyelomeningocele in each hemicord-An exceptional case of spinal dysraphism. ( 30529523 )
2018
3
Diagnosis and treatment of diastematomyelia in children: a perspective cohort study. ( 30588335 )
2018
4
Split cord malformation type 1 with two hemicord lesions. ( 29797061 )
2018
5
Diastematomyelia and late onset presentation: a case report of a 72-year-old woman. ( 28534605 )
2017
6
Diastematomyelia in a 3-year-old girl. ( 28847880 )
2017
7
The Value of Prenatal Ultrasonographic Diagnosis of Diastematomyelia. ( 28304101 )
2017
8
Long Segment Bony Spur in Split Cord Malformation Type 1. ( 27770428 )
2017
9
A unique case of split cord malformation type 1 with three different types of bony spurs. ( 28484560 )
2017
10
Klippel-Feil Syndrome With Spinal Dysraphism: Diastematomyelia on 18F-NaF Bone PET, CT, and MRI Imaging. ( 26859203 )
2016
11
Previously undiagnosed diastematomyelia with bony spur as a cause of back pain in a 49-year-old patient with known psoriatic arthritis. ( 27665760 )
2016
12
Poster 375 Adult Onset Lumbar Radiculopathy Secondary to Type II Diastematomyelia: A Case Report. ( 27673127 )
2016
13
Diastematomyelia: Split Cord Malformation. ( 26771912 )
2016
14
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
15
Diastematomyelia as an Incidental MRI Finding. ( 27647216 )
2016
16
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
17
Diastematomyelia - Imaging Findings, Case Report. ( 30568818 )
2016
18
Fetal diastematomyelia associated with vertebral malformation: ultrasound, MRI, and pathomorphological findings. ( 26576982 )
2015
19
Faun Tail Overlying Spinal Dysraphism (Diastematomyelia) at the Mid Thoracic Level: Cosmetic Improvement Achieved with Diode Laser Epilation. ( 26677308 )
2015
20
Pseudodystonic Posture Secondary to Klippel-Feil Syndrome and Diastematomyelia. ( 27352284 )
2015
21
Diastematomyelia with hemimyelomeningocele: An exceptional and complex spinal dysraphism. ( 26557164 )
2015
22
First trimester diagnosis of cervico-thoracic diastematomyelia and diplomyelia using three-dimensional ultrasound. ( 26438550 )
2015
23
Diastematomyelia with the owl sign (Type I split cord malformation). ( 26008682 )
2015
24
Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. ( 26239763 )
2015
25
Diastematomyelia: a surgical case with long-term follow-up. ( 25705341 )
2015
26
Spinal Diastematomyelia: A means of identification of charred remains. ( 24365678 )
2014
27
CT and MRI features of patients with diastematomyelia. ( 24796446 )
2014
28
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
29
L3-L5 Teratological Spondylolysis with Diastematomyelia and L4 Radicular Syndrome followed by Spondyloschisis without Myelomeningocele due to Somato-arcuate Shifting. ( 25264313 )
2014
30
Diastematomyelia - a report of two cases. ( 24959492 )
2014
31
Duplicated pelvic floor musculature and diastematomyelia in a cloacal exstrophy patient. ( 25426220 )
2014
32
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
33
Diastematomyelia in congenital scoliosis: a report of two cases. ( 24535633 )
2014
34
Prenatal diagnosis and clinicopathologic examination of a case with diastematomyelia. ( 24712476 )
2013
35
Intracranial translucency and spinal cord defects: early prenatal diagnosis of diastematomyelia. ( 23980231 )
2013
36
Diastematomyelia presenting in adulthood as back pain. ( 21904190 )
2013
37
Complex split cord malformation type 1 with mulitiple lipomas involving the split cord. ( 24435024 )
2013
38
Diastematomyelia Presenting With no Pain in a 53-Year-Old Man: A Case Report. ( 24349753 )
2013
39
A Sacral Mass in a Newborn: A Variant of Type II Diastematomyelia with Triple Splitting of the Cord. ( 23738178 )
2013
40
Diastematomyelia: a 35-year experience. ( 23492975 )
2013
41
Prenatal diagnosis of diastematomyelia: a case report and review of the literature. ( 21952985 )
2012
42
Use of a synthetic dural substitute to prevent ventral retethering in the management of diastematomyelia. ( 22245274 )
2012
43
Unique sacral location of an arteriovenous fistula of the filum terminale associated with diastematomyelia and lowered spinal cords. ( 21701867 )
2012
44
Diastematomyelia: a retrospective review of 138 patients. ( 22371545 )
2012
45
Adult presentation of diastematomyelia: a case report. ( 21571568 )
2011
46
Jarcho-Levin syndrome with diastematomyelia: A case report and review of literature. ( 22408667 )
2011
47
Diastematomyelia: pre- and postnatal multimodal diagnostic approach. ( 22338388 )
2011
48
Mondini malformation associated with diastematomyelia and presenting with recurrent meningitis. ( 21421905 )
2011
49
Diastematomyelia - a diagnostic and therapeutic problem. Case study. ( 20675868 )
2010
50
MRI diagnosis of diastematomyelia in a 78-year-old woman: Case report and literature review. ( 22802781 )
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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