MCID: PRM168
MIFTS: 12

Primary Syringomyelia

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Syringomyelia

MalaCards integrated aliases for Primary Syringomyelia:

Name: Primary Syringomyelia 58
Congenital Syringomyelia 58 71

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q06.4
UMLS via Orphanet 72 C0039144 C1861301
Orphanet 58 ORPHA99856
UMLS 71 C1299627

Summaries for Primary Syringomyelia

MalaCards based summary : Primary Syringomyelia, also known as congenital syringomyelia, is related to obsolete: primary syringomyelia/hydromyelia and syringomyelia, noncommunicating isolated. Affiliated tissues include spinal cord.

Related Diseases for Primary Syringomyelia

Diseases in the Syringomyelia family:

Familial Syringomyelia Secondary Syringomyelia
Primary Syringomyelia

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

# Related Disease Score Top Affiliating Genes
1 obsolete: primary syringomyelia/hydromyelia 12.3
2 syringomyelia, noncommunicating isolated 9.9
3 syringomyelia 9.9

Symptoms & Phenotypes for Primary Syringomyelia

Drugs & Therapeutics for Primary Syringomyelia

Search Clinical Trials , NIH Clinical Center for Primary Syringomyelia

Genetic Tests for Primary Syringomyelia

Anatomical Context for Primary Syringomyelia

MalaCards organs/tissues related to Primary Syringomyelia:

40
Spinal Cord

Publications for Primary Syringomyelia

Articles related to Primary Syringomyelia:

# Title Authors PMID Year
1
Spinal cord stimulation for a patient with neuropathic pain related to congenital syringomyelia. 61
28757924 2017
2
Thecal shunt placement for treatment of obstructive primary syringomyelia. 61
19035753 2008
3
[Pathogenesis of syringomyelia]. 61
17330182 2007
4
Advances in diagnosis and treatment of spinal hemangioblastomas. 61
8272209 1993
5
[MRT in primary and tumor-induced syringomyelia]. 61
2556749 1989
6
Primary syringomyelia in a kitten. 61
7141995 1982

Variations for Primary Syringomyelia

Expression for Primary Syringomyelia

Search GEO for disease gene expression data for Primary Syringomyelia.

Pathways for Primary Syringomyelia

GO Terms for Primary Syringomyelia

Sources for Primary Syringomyelia

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
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