MCID: SPS006
MIFTS: 21

Spastic Monoplegia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Monoplegia

MalaCards integrated aliases for Spastic Monoplegia:

Name: Spastic Monoplegia 12 15
Monoplegic Infantile Cerebral Palsy 12 71
Spastic Monoplegic Cerebral Palsy 12 52
Infantile Monoplegic Cerebral Palsy 12
Cerebral Palsy Spastic Monoplegic 52
Spastic Monoplegia Cerebral Palsy 52

Classifications:



External Ids:

Disease Ontology 12 DOID:10968
ICD9CM 34 343.3
MeSH 43 D002547
UMLS 71 C0154698

Summaries for Spastic Monoplegia

Disease Ontology : 12 A spastic cerebral palsy that affects only one limb.

MalaCards based summary : Spastic Monoplegia, also known as monoplegic infantile cerebral palsy, is related to spastic cerebral palsy and arteriovenous malformation. An important gene associated with Spastic Monoplegia is HPCA (Hippocalcin). Affiliated tissues include brain, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Spastic Monoplegia

Diseases related to Spastic Monoplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 spastic cerebral palsy 11.4
2 arteriovenous malformation 10.3
3 cerebral palsy 10.3
4 noonan syndrome 4 10.2 RD3 PDE6B
5 tertiary neurosyphilis 10.1 JRK CD40LG
6 isolated dystonia 10.1 TOR1A HPCA
7 segmental dystonia 10.1 TOR1A HPCA
8 torsion dystonia 2 10.1 TOR1A HPCA
9 cervical adenitis 10.1 PDE6B CD40LG
10 dystonia 1, torsion, autosomal dominant 10.1 TOR1A HPCA
11 focal dystonia 10.1 TOR1A JRK
12 dystonia 25 10.1 TOR1A HPCA
13 dystonia 3, torsion, x-linked 10.1 TOR1A HPCA
14 miliary tuberculosis 10.1 PDE6B CD40LG
15 hemidystonia 10.0 TOR1A JRK
16 focal hand dystonia 10.0 TOR1A JRK
17 tularemia 10.0 PDE6B CD40LG
18 aspiration pneumonia 9.9 JRK CD40LG
19 cleft palate, cardiac defects, and mental retardation 9.9 HECTD4 CPQ
20 barre-lieou syndrome 9.9 WRNIP1 HECTD4
21 blepharospasm 9.9 TOR1A JRK
22 selective igg deficiency disease 9.9 TOR1A CD40LG
23 internuclear ophthalmoplegia 9.9 JRK HECTD4
24 immunoglobulin a deficiency 1 9.9 TOR1A CD40LG
25 spasmodic dystonia 9.9 TOR1A JRK HPCA
26 multifocal dystonia 9.9 TOR1A JRK HPCA
27 cervical dystonia 9.9 TOR1A JRK
28 duodenitis 9.9 TOR1A CD40LG
29 giardiasis 9.8 TOR1A CD40LG
30 dystonia 11, myoclonic 9.8 TOR1A JRK
31 dystonia, dopa-responsive 9.8 TOR1A SLC2A1
32 hemoglobin d disease 9.8 HECTD4 GPX4
33 plexopathy 9.8 HECTD4 CD40LG
34 immunoglobulin alpha deficiency 9.8 TOR1A CD40LG
35 tenosynovitis 9.8 HECTD4 CD40LG
36 dystonia 12 9.7 TOR1A SLC2A1 HPCA
37 mononeuropathy 9.7 HECTD4 CD40LG
38 lymphoplasmacytic lymphoma 9.7 HAS1 CD40LG
39 tendinitis 9.7 HECTD4 CD40LG
40 polyradiculopathy 9.7 HECTD4 CD40LG
41 movement disease 9.7 TOR1A SLC2A1 JRK
42 bullous skin disease 9.7 TOR1A CD40LG
43 autoimmune disease of skin and connective tissue 9.6 TOR1A CD40LG
44 cone-rod dystrophy 2 9.6 RD3 PITPNM1 PDE6B CD40LG
45 autoimmune disease of endocrine system 9.4 TOR1A CD40LG
46 strabismus 9.1 TOR1A SLC2A1 JRK HECTD4

Graphical network of the top 20 diseases related to Spastic Monoplegia:



Diseases related to Spastic Monoplegia

Symptoms & Phenotypes for Spastic Monoplegia

GenomeRNAi Phenotypes related to Spastic Monoplegia according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.6 HAS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 9.6 PDE6B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.6 PDE6B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.6 PDE6B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 9.6 PDE6B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.6 SLC2A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.6 SLC2A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.6 PDE6B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.6 PDE6B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.6 SLC2A1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-185 9.6 HAS1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-24 9.6 PDE6B
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.6 SLC2A1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.6 PDE6B
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.6 HAS1 PDE6B SLC2A1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-90 9.6 SLC2A1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.6 PDE6B

MGI Mouse Phenotypes related to Spastic Monoplegia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 GPX4 PDE6B PITPNM1 RD3 TOR1A WRNIP1

Drugs & Therapeutics for Spastic Monoplegia

Search Clinical Trials , NIH Clinical Center for Spastic Monoplegia

Genetic Tests for Spastic Monoplegia

Anatomical Context for Spastic Monoplegia

MalaCards organs/tissues related to Spastic Monoplegia:

40
Brain

Publications for Spastic Monoplegia

Articles related to Spastic Monoplegia:

# Title Authors PMID Year
1
Spinal arteriovenous malformation presenting as spastic monoplegic cerebral palsy in a child. 61
20546106 2012
2
Teaching NeuroImage: Acute spastic monoplegia secondary to spinal epidural venous engorgement in pregnancy. 61
18591496 2008
3
Congenital nephrotic syndrome, an uncommon presentation of cytomegalovirus infection. 61
18626461 2008
4
[Leukomalacia and subsequent brain status in relation to intensive neonatal care]. 61
2075 1975

Variations for Spastic Monoplegia

Expression for Spastic Monoplegia

Search GEO for disease gene expression data for Spastic Monoplegia.

Pathways for Spastic Monoplegia

GO Terms for Spastic Monoplegia

Cellular components related to Spastic Monoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.32 WRNIP1 TOR1A SLC2A1 RD3 PITPNM1 JRK

Biological processes related to Spastic Monoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 9.13 RD3 PDE6B HPCA
2 negative regulation of guanylate cyclase activity GO:0031283 8.62 RD3 HPCA

Molecular functions related to Spastic Monoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.1 WRNIP1 TOR1A SLC2A1 HPCA HAS1 GPX4

Sources for Spastic Monoplegia

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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