MCID: SPS221
MIFTS: 12

Spastic Pseudosclerosis

Aliases & Classifications for Spastic Pseudosclerosis

MalaCards integrated aliases for Spastic Pseudosclerosis:

Name: Spastic Pseudosclerosis 57 72
Disseminated Encephalomyelopathy 57
Corticopallidodegeneration 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spastic pseudosclerosis:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 270900
MedGen 42 C0599464
UMLS 72 C0599464

Summaries for Spastic Pseudosclerosis

MalaCards based summary : Spastic Pseudosclerosis, is also known as disseminated encephalomyelopathy. Affiliated tissues include brain and thalamus, and related phenotype is abnormality of the nervous system.

More information from OMIM: 270900

Related Diseases for Spastic Pseudosclerosis

Symptoms & Phenotypes for Spastic Pseudosclerosis

Human phenotypes related to Spastic Pseudosclerosis:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 32 HP:0000707

Symptoms via clinical synopsis from OMIM:

57
Neuro:
corticopallidodegeneration
disseminated encephalomyelopathy
spastic pseudosclerosis

Misc:
third decade onset

Clinical features from OMIM:

270900

Drugs & Therapeutics for Spastic Pseudosclerosis

Search Clinical Trials , NIH Clinical Center for Spastic Pseudosclerosis

Genetic Tests for Spastic Pseudosclerosis

Anatomical Context for Spastic Pseudosclerosis

MalaCards organs/tissues related to Spastic Pseudosclerosis:

41
Brain, Thalamus

Publications for Spastic Pseudosclerosis

Articles related to Spastic Pseudosclerosis:

# Title Authors PMID Year
1
"Meningitis-retention syndrome": a review. 38
22674777 2013
2
'Spastic pseudosclerosis (cortico-pallido-spinal degeneration)', by Charles Davison (New York), Brain 1932: 55; 247-264 and 'Severe dementia associated with bilateral symmetrical degeneration of the thalamus', by K. Stern (from the National Hospital, Queen Square, London), Brain 1939: 62; 157-171. 38
19824137 2009
3
[Background of recent JE vaccine issues]. 38
16557017 2005
4
[A case of acute disseminated encephalomyelitis with pathologically-proven acute demyelinating lesion in the peripheral nervous system]. 38
7820963 1994
5
Concerning a disorder of the central nervous system clinically resembling multiple sclerosis with remarkable anatomic findings (spastic pseudosclerosis). Report of a fourth case. 38
2663041 1989
6
Acute, severe, central and peripheral nervous system combined demyelination. 38
3508673 1986
7
Dental infection and diseases of the nervous system. Part I: The venous system as a route for spread of bacterial products in the pathogenesis of disseminated encephalomyelopathy. 38
13834992 1960
8
[Demonstration of a case of Jakob-Creutzfeldt spastic pseudosclerosis]. 38
13831731 1959
9
[Creutzfeld-Jakob disease: spastic pseudosclerosis of adults with mental disintegration]. 38
14806313 1950

Variations for Spastic Pseudosclerosis

Expression for Spastic Pseudosclerosis

Search GEO for disease gene expression data for Spastic Pseudosclerosis.

Pathways for Spastic Pseudosclerosis

GO Terms for Spastic Pseudosclerosis

Sources for Spastic Pseudosclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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