MCID: FML255
MIFTS: 13

Familial Syringomyelia

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

Aliases & Classifications for Familial Syringomyelia

MalaCards integrated aliases for Familial Syringomyelia:

Name: Familial Syringomyelia 58

Characteristics:

Orphanet epidemiological data:

58
familial syringomyelia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q06.4
Orphanet 58 ORPHA370034

Summaries for Familial Syringomyelia

MalaCards based summary : Familial Syringomyelia is related to syringomyelia, noncommunicating isolated and syringomyelia. Affiliated tissues include spinal cord.

Wikipedia : 74 Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition... more...

Related Diseases for Familial Syringomyelia

Diseases in the Syringomyelia family:

Familial Syringomyelia Secondary Syringomyelia
Primary Syringomyelia

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

# Related Disease Score Top Affiliating Genes
1 syringomyelia, noncommunicating isolated 10.3
2 syringomyelia 10.3
3 chiari malformation type i 10.1
4 hairy elbows 9.8
5 klippel-feil syndrome 9.8
6 meningocele 9.8
7 hypertrichosis 9.8
8 47,xyy 9.8
9 chiari malformation 9.8
10 syringobulbia 9.8

Graphical network of the top 20 diseases related to Familial Syringomyelia:



Diseases related to Familial Syringomyelia

Symptoms & Phenotypes for Familial Syringomyelia

Drugs & Therapeutics for Familial Syringomyelia

Search Clinical Trials , NIH Clinical Center for Familial Syringomyelia

Genetic Tests for Familial Syringomyelia

Anatomical Context for Familial Syringomyelia

MalaCards organs/tissues related to Familial Syringomyelia:

40
Spinal Cord

Publications for Familial Syringomyelia

Articles related to Familial Syringomyelia:

(show all 16)
# Title Authors PMID Year
1
A nationwide survey of familial syringomyelia in Japan. 61
28991663 2017
2
Familial syringomyelia in two siblings: case report. 61
18050067 2007
3
Evidence of familial syringomyelia in discordant association with Chiari type I malformation. 61
16834711 2006
4
Syringomyelia in twin brothers discordant for Chiari I malformation: case report. 61
15449382 2004
5
Familial syringomyelia: the first Japanese case and review of the literature. 61
12445928 2002
6
A genetic hypothesis for Chiari I malformation with or without syringomyelia. 61
16676924 2000
7
Familial syringomyelia: case report and review of the literature. 61
7482254 1995
8
Familial syringomyelia: case report and review of the literature. 61
8125767 1993
9
[Discordant syringomyelia twins in familial syringomyelia]. 61
3748236 1986
10
Familial syringomyelia. 61
4045487 1985
11
Familial syringomyelia with mental impairment. 61
7086741 1982
12
Familial communicating syringomyelia. 61
650252 1978
13
Familial syringomyelia: a report of four cases. 61
305236 1977
14
[4 cases of familial syringomyelia in a single generation]. 61
936867 1976
15
Familial syringomyelia. 61
1141921 1975
16
[The probable character of heredity in familial syringomyelia]. 61
4753594 1973

Variations for Familial Syringomyelia

Expression for Familial Syringomyelia

Search GEO for disease gene expression data for Familial Syringomyelia.

Pathways for Familial Syringomyelia

GO Terms for Familial Syringomyelia

Sources for Familial 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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