MCID: INH017
MIFTS: 16

Inherited Congenital Spastic Tetraplegia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Inherited Congenital Spastic Tetraplegia

MalaCards integrated aliases for Inherited Congenital Spastic Tetraplegia:

Name: Inherited Congenital Spastic Tetraplegia 59
Spastic Quadriplegic Cerebral Palsy 59 73
Inherited Congenital Spastic Quadriplegia 59
Quadriplegic Cerebral Palsy 73

Characteristics:

Orphanet epidemiological data:

59
inherited congenital spastic tetraplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA210141
ICD10 via Orphanet 34 G11.4

Summaries for Inherited Congenital Spastic Tetraplegia

MalaCards based summary : Inherited Congenital Spastic Tetraplegia, also known as spastic quadriplegic cerebral palsy, is related to cerebral palsy and spastic quadriplegia. An important gene associated with Inherited Congenital Spastic Tetraplegia is KANK1 (KN Motif And Ankyrin Repeat Domains 1). The drugs Epoetin alfa and Hematinics have been mentioned in the context of this disorder.

Related Diseases for Inherited Congenital Spastic Tetraplegia

Diseases related to Inherited Congenital Spastic Tetraplegia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebral palsy 27.5 ADD3 GAD1 KANK1
2 spastic quadriplegia 12.2
3 spastic paraplegia 50, autosomal recessive 11.3
4 spastic paraplegia 47, autosomal recessive 11.3
5 spastic paraplegia 52, autosomal recessive 11.3
6 hereditary spastic paraplegia 51 11.3
7 cerebritis 10.1
8 spasticity 10.1

Graphical network of the top 20 diseases related to Inherited Congenital Spastic Tetraplegia:



Diseases related to Inherited Congenital Spastic Tetraplegia

Symptoms & Phenotypes for Inherited Congenital Spastic Tetraplegia

Drugs & Therapeutics for Inherited Congenital Spastic Tetraplegia

Drugs for Inherited Congenital Spastic Tetraplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Epoetin alfa Phase 3 113427-24-0
2 Hematinics Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Erythropoietin in Management of Neonatal Hypoxic Ischemic Encephalopathy Not yet recruiting NCT03163589 Phase 3 Erythropoietin;normal saline
2 Balance and Posture in Adults With Cerebral Palsy Active, not recruiting NCT01585571

Search NIH Clinical Center for Inherited Congenital Spastic Tetraplegia

Genetic Tests for Inherited Congenital Spastic Tetraplegia

Anatomical Context for Inherited Congenital Spastic Tetraplegia

Publications for Inherited Congenital Spastic Tetraplegia

Articles related to Inherited Congenital Spastic Tetraplegia:

# Title Authors Year
1
Disruption of Basal lamina components in neuromotor synapses of children with spastic quadriplegic cerebral palsy. ( 23976945 )
2013

Variations for Inherited Congenital Spastic Tetraplegia

Expression for Inherited Congenital Spastic Tetraplegia

Search GEO for disease gene expression data for Inherited Congenital Spastic Tetraplegia.

Pathways for Inherited Congenital Spastic Tetraplegia

GO Terms for Inherited Congenital Spastic Tetraplegia

Cellular components related to Inherited Congenital Spastic Tetraplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 8.62 ADD3 GAD1

Sources for Inherited Congenital Spastic Tetraplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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