MCID: INH017
MIFTS: 18

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 58
Inherited Congenital Spastic Quadriplegia 58
Spastic Quadriplegic Cerebral Palsy 71
Quadriplegic Cerebral Palsy 71

Characteristics:

Orphanet epidemiological data:

58
inherited congenital spastic tetraplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA210141
UMLS 71 C0393995 C0837178

Summaries for Inherited Congenital Spastic Tetraplegia

MalaCards based summary : Inherited Congenital Spastic Tetraplegia, also known as inherited congenital spastic quadriplegia, is related to spastic cerebral palsy and cerebral palsy. An important gene associated with Inherited Congenital Spastic Tetraplegia is ADD3 (Adducin 3). Affiliated tissues include bone, brain and cortex.

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 spastic cerebral palsy 9.2 KANK1 GAD1
2 cerebral palsy 8.9 KANK1 GAD1 ADD3

Symptoms & Phenotypes for Inherited Congenital Spastic Tetraplegia

Drugs & Therapeutics for Inherited Congenital Spastic Tetraplegia

Search Clinical Trials , NIH Clinical Center for Inherited Congenital Spastic Tetraplegia

Genetic Tests for Inherited Congenital Spastic Tetraplegia

Anatomical Context for Inherited Congenital Spastic Tetraplegia

MalaCards organs/tissues related to Inherited Congenital Spastic Tetraplegia:

40
Bone, Brain, Cortex, Kidney, Salivary Gland, Testes, Tongue

Publications for Inherited Congenital Spastic Tetraplegia

Articles related to Inherited Congenital Spastic Tetraplegia:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Mutations in γ adducin are associated with inherited cerebral palsy. 6
23836506 2013
2
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. 6
16301218 2005
3
Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. 6
15571623 2004
4
Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. 6
15037681 2004
5
Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy. 6
9084927 1997
6
ASSESSMENT OF NUTRITIONAL STATUS AND FREQUENCY OF COMPLICATIONS ASSOCIATED TO FEEDING IN PATIENTS WITH SPASTIC QUADRIPLEGIC CEREBRAL PALSY. 61
32401853 2020
7
Human Parechovirus 3 in Infants: Expanding Our Knowledge of Adverse Outcomes. 61
30204658 2019
8
Intrathecal baclofen toxicity in a patient with acute kidney injury. 61
31476182 2019
9
Does power mobility training impact a child's mastery motivation and spectrum of EEG activity? An exploratory project. 61
28853621 2018
10
Resting energy expenditure in children with cerebral palsy: Accuracy of available prediction formulae and development of a population-specific formula. 61
29779817 2018
11
ASSESSMENT OF NUTRITIONAL STATUS OF CHILDREN AND ADOLESCENTS WITH SPASTIC QUADRIPLEGIC CEREBRAL PALSY. 61
28723982 2017
12
Are we there yet? Evaluating commercial grade brain-computer interface for control of computer applications by individuals with cerebral palsy. 61
26699697 2017
13
Single-Trial Analysis of Inter-Beat Interval Perturbations Accompanying Single-Switch Scanning: Case Series of Three Children With Severe Spastic Quadriplegic Cerebral Palsy. 61
26068545 2016
14
Training to use a commercial brain-computer interface as access technology: a case study. 61
25270615 2016
15
Treatment of os odontoideum in a patient with spastic quadriplegic cerebral palsy. 61
25913747 2015
16
Health benefits of seated speed, resistance, and power training for an individual with spastic quadriplegic cerebral palsy: A case report. 61
26410068 2015
17
Promoting self-exploration and function through an individualized power mobility training program. 61
25695192 2015
18
Autonomic responses to correct outcomes and interaction errors during single-switch scanning among children with severe spastic quadriplegic cerebral palsy. 61
24607065 2014
19
Learning and mastery behaviours as risk factors to abandonment in a paediatric user of advanced single-switch access technology. 61
23336602 2013
20
Surgical Treatment of Scoliosis in Non-Ambulatory Spastic Quadriplegic Cerebral Palsy Patients: A Matched Cohort Comparison of Unit Rod Technique and All-Pedicle Screw Constructs. 61
27927398 2013
21
Bilateral proximal femur and femoral head regrowth following proximal femoral resection in a child with spastic cerebral palsy. 61
23907179 2013
22
Outcomes after salvage procedures for the painful dislocated hip in cerebral palsy. 61
23752147 2013
23
Complications of intrathecal baclofen pumps in children: experience from a tertiary care center. 61
24577095 2013
24
Antireflux surgery in children with neurological impairment: caregiver perceptions and complications. 61
22785414 2013
25
Disruption of basal lamina components in neuromotor synapses of children with spastic quadriplegic cerebral palsy. 61
23976945 2013
26
Lower extremity orthoses in children with spastic quadriplegic cerebral palsy: implications for nurses, parents, and caregivers. 61
21597341 2011
27
Client-centred development of an infrared thermal access switch for a young adult with severe spastic quadriplegic cerebral palsy. 61
20569118 2011
28
Rhabdomyolysis as a postoperative complication of multilevel soft-tissue surgery in a child with cerebral palsy. 61
21145515 2010
29
Gastrostomy feeding in cerebral palsy: enough and no more. 61
20964670 2010
30
Relationships between developmental profiles and ambulatory ability in A follow-up study of preschool children with spastic quadriplegic cerebral palsy. 61
20979703 2010
31
Decreased fracture incidence after 1 year of pamidronate treatment in children with spastic quadriplegic cerebral palsy. 61
20573180 2010
32
Determinants of ambulation in children with spastic quadriplegic cerebral palsy: a population-based study. 61
19794101 2010
33
TREATMENT OF PARALYTIC HIP DISLOCATION AMONG SPASTIC QUADRIPLEGIC CEREBRAL PALSY PATIENTS BY MEANS OF FEMORAL AND PELVIC OSTEOTOMY, WITHOUT OPENING THE JOINT CAPSULE (CAPSULOPLASTY). 61
27022539 2010
34
A multiple camera tongue switch for a child with severe spastic quadriplegic cerebral palsy. 61
19941441 2010
35
Follow-up of developmental profiles in children with spastic quadriplegic cerebral palsy. 61
20035642 2009
36
[Multiple epiphyseal separations in a child with cerebral palsy and scurvy]. 61
19752853 2009
37
Cervical kyphosis and thoracic lordoscoliosis in a patient with cerebral palsy. 61
19292233 2008
38
Comorbidities and clinical determinants of outcome in children with spastic quadriplegic cerebral palsy. 61
18248493 2008
39
Outcomes of posterior spinal fusion and instrumentation in patients with continuous intrathecal baclofen infusion pumps. 61
18277862 2008
40
Diagnostic evaluation using whole-body technetium bone scan in children with cerebral palsy and pain. 61
18157055 2008
41
Prolonged, severe intrathecal baclofen withdrawal syndrome: a case report. 61
17964889 2007
42
Epiphyseal separations in spastic cerebral palsy. 61
17414775 2007
43
Oral baclofen in children with cerebral palsy: a double-blind cross-over pilot study. 61
17044900 2006
44
Pamidronate treatment and posttreatment bone density in children with spastic quadriplegic cerebral palsy. 61
16785077 2006
45
Comparison of the ratio of upper to lower chest wall in children with spastic quadriplegic cerebral palsy and normally developed children. 61
16642554 2006
46
Reduced body protein in children with spastic quadriplegic cerebral palsy. 61
16522908 2006
47
Awake upper airway obstruction in children with spastic quadriplegic cerebral palsy. 61
16487389 2006
48
Botulinum toxin type a injections to salivary glands: combination with single event multilevel chemoneurolysis in 2 children with severe spastic quadriplegic cerebral palsy. 61
16401453 2006
49
Bone densitometry in pediatric patients treated with pamidronate. 61
15655696 2005
50
Agreement of aspiration tests using barium videofluoroscopy, salivagram, and milk scan in children with cerebral palsy. 61
15707231 2005

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 GAD1 ADD3

Sources for Inherited Congenital Spastic Tetraplegia

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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