SCM
MCID: DST008
MIFTS: 31

Diastematomyelia (SCM)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Diastematomyelia

MalaCards integrated aliases for Diastematomyelia:

Name: Diastematomyelia 57 74 20 71 32
Split Cord Malformation Type 1 20 58
Split Cord Malformation 20 58
Scm Type 1 20 58
Split Spinal Cord Malformation 20
Split Cord Malformation Type I 58
Pseudodiplomyelia 20
Diplomyelia 20
Scm Type I 58
Dimyelia 20
Sscm 20
Scm 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
possibly autosomal recessive


HPO:

31
diastematomyelia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 222500
ICD10 32 Q06.2
ICD10 via Orphanet 33 Q06.2
UMLS via Orphanet 72 C0011999
MedGen 41 C0011999
UMLS 71 C0011999

Summaries for Diastematomyelia

GARD : 20 Split spinal cord malformation (SSCM) is a rare form of spinal dysraphism in which a person is born with splitting, or duplication, of the spinal cord. It may be characterized by complete or incomplete division of the spinal cord, resulting in two 'hemicords.' There are two types of SSCM. In type I, each hemicord has a full protective covering (thecal sac) and they are separated by a bony structure, forming a double spinal canal. In type II, the two hemicords are surrounded by one thecal sac and there is a single spinal canal. While SSCM is present from birth, it may become apparent at any age and is more common in women than in men. Some people may not have symptoms, while others may have a tethered cord and/or various other spinal abnormalities. Symptoms vary and may include back pain, bladder dysfunction, and leg pain or weakness. SSCM is thought to be caused by abnormal formation of the notochord and neural tube (which ultimately form the brain and spinal cord) very early in embryonic development. Treatment may include surgery for release of a tethered cord, and/or physical therapy for neurologic problems or pain.

MalaCards based summary : Diastematomyelia, also known as split cord malformation type 1, is related to split cord malformation type ii and myotonia, potassium-aggravated. The drug Altretamine has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and skin, and related phenotypes are diastomatomyelia and scoliosis

Wikipedia : 74 Diastematomyelia (occasionally diastomyelia) is a congenital disorder in which a part of the spinal cord... more...

More information from OMIM: 222500

Related Diseases for Diastematomyelia

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

(show top 50) (show all 147)
# Related Disease Score Top Affiliating Genes
1 split cord malformation type ii 11.4
2 myotonia, potassium-aggravated 11.3
3 tethered spinal cord syndrome 11.1
4 scoliosis 10.5
5 neural tube defects 10.4
6 myelomeningocele 10.3
7 lipomatosis, multiple 10.3
8 pleomorphic lipoma 10.3
9 teratoma 10.3
10 meningocele 10.3
11 neurogenic bladder 10.3
12 klippel-feil syndrome 10.2
13 syringomyelia, noncommunicating isolated 10.2
14 syringomyelia 10.2
15 situs inversus 10.2
16 eating disorder 10.2
17 hypertrichosis 10.2
18 spina bifida occulta 10.1
19 hydrocephalus 10.1
20 spondylocostal dysostosis 3, autosomal recessive 10.1
21 dysostosis 10.1
22 dextrocardia with situs inversus 10.1
23 anorexia nervosa 10.1
24 epidermoid cysts 10.1
25 radiculopathy 10.1
26 paraplegia 10.1
27 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
28 urinary tract infection 10.1
29 back pain 10.0
30 hydromyelia 10.0
31 syringohydromyelia 10.0
32 overgrowth syndrome 10.0
33 ventricular septal defect 10.0
34 heart septal defect 10.0
35 angelman syndrome 10.0
36 spondylocostal dysostosis 5 10.0
37 mirror movements 1 10.0
38 pilonidal sinus 10.0
39 common cold 10.0
40 hydronephrosis 10.0
41 epidural abscess 10.0
42 acute cystitis 10.0
43 gangliocytoma 10.0
44 capillary hemangioma 10.0
45 skin hemangioma 10.0
46 cowden syndrome 10.0
47 48,xyyy 10.0
48 horseshoe kidney 10.0
49 meningoencephalocele 10.0
50 spastic paraparesis 10.0

Graphical network of the top 20 diseases related to Diastematomyelia:



Diseases related to Diastematomyelia

Symptoms & Phenotypes for Diastematomyelia

Human phenotypes related to Diastematomyelia:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diastomatomyelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100563
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
4 abnormality of the nervous system 31 HP:0000707

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic:
diastematomyelia
divided spinal cord
spinal cord dysraphism

Clinical features from OMIM®:

222500 (Updated 05-Mar-2021)

Drugs & Therapeutics for Diastematomyelia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Altretamine Approved 645-05-6 2123

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Cytokine Supplementation With Various Protein Concentrations Into Human in Vitro Culture Medium on ICSI Cycle Outcome Recruiting NCT04547699

Search NIH Clinical Center for Diastematomyelia

Genetic Tests for Diastematomyelia

Anatomical Context for Diastematomyelia

MalaCards organs/tissues related to Diastematomyelia:

40
Spinal Cord, Bone, Skin, Brain, Breast, Uterus, Appendix

Publications for Diastematomyelia

Articles related to Diastematomyelia:

(show top 50) (show all 576)
# Title Authors PMID Year
1
Diastematomyelia in two sisters. 61 57
10449657 1999
2
DIASTEMATOMYELIA IN TWO SISTERS. 57 61
14110362 1964
3
Diastematomyelia type I associated with intramedullary lipoma and dermoid cyst. 61
33403491 2021
4
A Case of Diastematomyelia Presenting With Minimal Neurologic Deficits in a Middle-Aged Patient. 61
33585110 2021
5
Mature cystic teratoma mimicking meningomyelocele. 61
33404722 2021
6
MRI evaluation of fetal tethered-cord syndrome: correlation with ultrasound findings and clinical follow-up after birth. 61
33485624 2021
7
Incidence of intraspinal abnormalities in congenital scoliosis: a systematic review and meta-analysis. 61
33087139 2020
8
The rate of intraspinal problems and clinical evaluation of scoliosis: A cross-sectional, descriptive study. 61
33089089 2020
9
[Diastematomyelia discovered in adulthood]. 61
32909406 2020
10
Sympathetic Outflow Disturbance After Posterior Deformity Correction: A Rare Complication. 61
32407923 2020
11
Klippel-Feil Syndrome with Cervical Diastematomyelia in an Adult with Extensive Cervicothoracic Fusions: Case Report and Review of the Literature. 61
32339744 2020
12
Split cord malformation in adults: Literature review and classification. 61
32146230 2020
13
Psychosocial outcomes for adults with spina bifida: a scoping review protocol. 61
32813368 2020
14
Risk factors, presentation and outcome of meningomyelocele repair. 61
32292446 2020
15
Luckenschadel Associated with Chiari Type II Malformation: An Autopsy Case Report. 61
32096430 2020
16
Triplomyelia in a case of diastematomyelia: A new entity. 61
33194258 2020
17
Dermal Sinus Tract associated with Type I and Type II Split Cord Malformation. 61
32181196 2020
18
Rare Bony Diastematomyelia Associated with Intraspinal Teratoma. 61
31606509 2020
19
Pediatric pathology all grown up - An interesting case of adult tethered spinal cord. 61
33194295 2020
20
Towards Guideline-Based Management of Tethered Cord Syndrome in Spina Bifida: A Global Health Paradigm Shift in the Era of Prenatal Surgery. 61
31284336 2019
21
Syringomyelia in children with closed spinal dysraphism: long-term outcomes after surgical intervention. 61
31835253 2019
22
Predictors of surgical treatment in children with tethered fibrofatty filum terminale. 61
31675690 2019
23
Psychosocial outcomes for adults with spina bifida: a scoping review protocol. 61
31714450 2019
24
Faun tail nevus: A series of 15 cases and their management with Intense Pulse Light. 61
31719732 2019
25
Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies. 61
31393300 2019
26
Spinal intradural arachnoid cyst associated with diastematomyelia in an adult: a case report and review of literature. 61
31526134 2019
27
Misdiagnosed adult presentation of diastematomyelia and tethered cord. 61
31338139 2019
28
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series. 61
30921094 2019
29
Arachnoiditis Ossificans: A Rare Etiology of Oil-Based Spinal Myelography and Review of the Literature. 61
30862590 2019
30
Pseudopathological vertebral changes in a young individual from Herculaneum (79 C.E.). 61
30816410 2019
31
Excision and short segment fusion of a double ipsilateral lumbar hemivertebrae associated with a diastematomyelia and fixed pelvic obliquity. 61
30718132 2019
32
Contiguous Diastematomyelia with Lipomyelomeningocele in Each Hemicord-an Exceptional Case of Spinal Dysraphism. 61
30529523 2019
33
The Prevalence of Scoliosis in Spina Bifida Subpopulations: A Systematic Review. 61
29757767 2018
34
Split cord malformation type 1 with two hemicord lesions. 61
29797061 2018
35
Using subdural strip electrodes to define functional sensory nerves and the most inferior functional portion of the conus medullaris during detethering surgeries for tethered cord syndrome: a pilot study. 61
30004314 2018
36
Diastematomyelia and late onset presentation: a case report of a 72-year-old woman. 61
28534605 2018
37
Diastematomyelia in a 3-year-old girl. 61
28847880 2018
38
Adult Versus Pediatric Tethered Cord Syndrome: Clinicoradiological Differences and its Management. 61
29682019 2018
39
Dorsal accessory ectopic breast with polythelia - A marker of occult spinal dysraphism. 61
30105137 2018
40
Diagnosis and treatment of diastematomyelia in children: a perspective cohort study. 61
30588335 2018
41
Surgical management of 142 cases of split cord malformations associated with osseous divide. 61
28826918 2017
42
Magnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences. 61
28969239 2017
43
The aim of this retrospective study is to evaluate the efficacy and safety of posterior-only vertebral column resection (PVCR) for the treatment of angular and isolated congenital kyphosis. 61
26661847 2017
44
The Value of Prenatal Ultrasonographic Diagnosis of Diastematomyelia. 61
28304101 2017
45
A unique case of split cord malformation type 1 with three different types of bony spurs. 61
28484560 2017
46
Long Segment Bony Spur in Split Cord Malformation Type 1. 61
27770428 2017
47
Determination of the Effect of Diameter of the Sac on Prognosis in 64 Cases Operated for Meningomyelocele. 61
28407703 2017
48
Previously undiagnosed diastematomyelia with bony spur as a cause of back pain in a 49-year-old patient with known psoriatic arthritis. 61
27665760 2017
49
Management of Tethered Cord Syndrome in Adults: Experience of 23 Cases. 61
27593774 2017
50
Forme rare du dysraphisme spinal fermé: la diastématomyélie: A rare form of closed spinal dysraphism: diastematomyelia. 61
29721147 2017

Variations for Diastematomyelia

Expression for Diastematomyelia

Search GEO for disease gene expression data for Diastematomyelia.

Pathways for Diastematomyelia

GO Terms for Diastematomyelia

Sources for Diastematomyelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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