MCID: SPS223
MIFTS: 7

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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spastic paraplegia and evans syndrome:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 601608
MedGen 42 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:

32
# Description HPO Frequency HPO Source Accession
1 spastic paraplegia 32 HP:0001258
2 autoimmune thrombocytopenia 32 HP:0001973
3 coombs-positive hemolytic anemia 32 HP:0004844

Symptoms via clinical synopsis from OMIM:

57
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. 8
8819560 1996
2
Acquired hemolytic anemia; the relation of erythrocyte antibody production to activity of the disease; the significance of thrombocytopenia and leukopenia. 8
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 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
Content
Loading form....