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 20
Infantile Monoplegic Cerebral Palsy 12
Cerebral Palsy Spastic Monoplegic 20
Spastic Monoplegia Cerebral Palsy 20

Classifications:



External Ids:

Disease Ontology 12 DOID:10968
ICD9CM 34 343.3
MeSH 44 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

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 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 9.86 PDE6B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.86 PDE6B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.86 PDE6B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 9.86 PDE6B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.86 SLC2A1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.86 SLC2A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.86 PDE6B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.86 PDE6B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.86 SLC2A1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-24 9.86 PDE6B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.86 SLC2A1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.86 PDE6B
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.86 PDE6B SLC2A1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-90 9.86 SLC2A1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.86 PDE6B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.53 PDE6B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.53 SLC2A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.53 SLC2A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.53 HPCA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.53 HPCA SLC2A1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.53 SLC2A1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.53 PDE6B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.53 SLC2A1 PDE6B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.53 HPCA

MGI Mouse Phenotypes related to Spastic Monoplegia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 HPCA PDE6B RD3 SLC2A1 TOR1A
2 nervous system MP:0003631 9.02 HPCA PDE6B RD3 SLC2A1 TOR1A

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
5
Brain-bullet wound; post-traumatic meningitis (sequela: spastic monoplegia). 61
20992182 1946

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 photoreceptor outer segment GO:0001750 8.96 RD3 PDE6B
2 photoreceptor inner segment GO:0001917 8.62 SLC2A1 RD3

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.16 RD3 PDE6B
2 retina development in camera-type eye GO:0060041 9.13 RD3 PDE6B HPCA
3 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 kinase binding GO:0019900 8.62 SLC2A1 HPCA

Sources for Spastic Monoplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....