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 skin, brain and b cells, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased 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 38)
# 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 10.1 RD3 PDE6B
5 isolated dystonia 10.1 TOR1A HPCA
6 spasmodic dystonia 10.1 TOR1A HPCA
7 multifocal dystonia 10.1 TOR1A HPCA
8 torsion dystonia 2 10.1 TOR1A HPCA
9 segmental dystonia 10.1 TOR1A HPCA
10 cervical adenitis 10.1 PDE6B CD40LG
11 dystonia 1, torsion, autosomal dominant 10.1 TOR1A HPCA
12 miliary tuberculosis 10.1 PDE6B CD40LG
13 dystonia 3, torsion, x-linked 10.0 TOR1A HPCA
14 dystonia 25 10.0 TOR1A HPCA
15 tularemia 10.0 PDE6B CD40LG
16 immunoglobulin a deficiency 1 9.9 TOR1A CD40LG
17 duodenitis 9.9 TOR1A CD40LG
18 alpha chain disease 9.9 TOR1A CD40LG
19 giardiasis 9.9 TOR1A CD40LG
20 dystonia, dopa-responsive 9.8 TOR1A SLC2A1
21 autoimmune disease of skin and connective tissue 9.8 TOR1A CD40LG
22 immunoglobulin alpha deficiency 9.8 TOR1A CD40LG
23 bullous skin disease 9.8 TOR1A CD40LG
24 plexopathy 9.8 HECTD4 CD40LG
25 autoimmune disease of endocrine system 9.8 TOR1A CD40LG
26 tenosynovitis 9.8 HECTD4 CD40LG
27 cellulitis 9.8 TOR1A CD40LG
28 miller fisher syndrome 9.8 HECTD4 CD40LG
29 lymphoplasmacytic lymphoma 9.7 HAS1 CD40LG
30 autoimmune disease of peripheral nervous system 9.7 HECTD4 CD40LG
31 b cell deficiency 9.7 TOR1A CD40LG
32 mononeuropathy 9.7 HECTD4 CD40LG
33 polyradiculopathy 9.7 HECTD4 CD40LG
34 autoimmune disease of gastrointestinal tract 9.7 TOR1A CD40LG
35 auditory system disease 9.7 HAS1 CD40LG
36 aspiration pneumonia 9.7 HECTD4 CD40LG
37 hemiplegia 9.5 SLC2A1 HECTD4
38 leprosy 3 9.2 HECTD4 CD40LG

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 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.62 PDE6B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.62 PDE6B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.62 PDE6B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.62 PDE6B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.62 HAS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.62 SLC2A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.62 HAS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.62 SLC2A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.62 SLC2A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.62 SLC2A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.62 HAS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.62 HAS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.62 PDE6B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.62 SLC2A1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.62 SLC2A1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.62 PDE6B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.62 HAS1 PDE6B SLC2A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.62 SLC2A1

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
Skin, Brain, B Cells

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

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 9.02 WRNIP1 TOR1A SLC2A1 HPCA HAS1

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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