MCID: SPS223
MIFTS: 8

Spastic Paraplegia and Evans Syndrome

Aliases & Classifications for Spastic Paraplegia and Evans Syndrome

MalaCards integrated aliases for Spastic Paraplegia and Evans Syndrome:

Name: Spastic Paraplegia and Evans Syndrome 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
spastic paraplegia and evans syndrome:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 601608
MedGen 41 C1866619

Summaries for Spastic Paraplegia and Evans Syndrome

MalaCards based summary : Spastic Paraplegia and Evans Syndrome Related phenotypes are spastic paraplegia and autoimmune thrombocytopenia

More information from OMIM: 601608

Related Diseases for Spastic Paraplegia and Evans Syndrome

Symptoms & Phenotypes for Spastic Paraplegia and Evans Syndrome

Human phenotypes related to Spastic Paraplegia and Evans Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 spastic paraplegia 31 HP:0001258
2 autoimmune thrombocytopenia 31 HP:0001973
3 coombs-positive hemolytic anemia 31 HP:0004844

Symptoms via clinical synopsis from OMIM:

56
Neuro:
spastic paraplegia
spasticity of legs

Heme:
coombs-positive hemolytic anemia
immune thrombocytopenia

Clinical features from OMIM:

601608

Drugs & Therapeutics for Spastic Paraplegia and Evans Syndrome

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia and Evans Syndrome

Genetic Tests for Spastic Paraplegia and Evans Syndrome

Anatomical Context for Spastic Paraplegia and Evans Syndrome

Publications for Spastic Paraplegia and Evans Syndrome

Articles related to Spastic Paraplegia and Evans Syndrome:

# Title Authors PMID Year
1
Hereditary spastic paraplegia and Evans's syndrome. 56
8819560 1996
2
Acquired hemolytic anemia; the relation of erythrocyte antibody production to activity of the disease; the significance of thrombocytopenia and leukopenia. 56
18143402 1949

Variations for Spastic Paraplegia and Evans Syndrome

Expression for Spastic Paraplegia and Evans Syndrome

Search GEO for disease gene expression data for Spastic Paraplegia and Evans Syndrome.

Pathways for Spastic Paraplegia and Evans Syndrome

GO Terms for Spastic Paraplegia and Evans Syndrome

Sources for Spastic Paraplegia and Evans Syndrome

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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