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MCID: INH017
MIFTS: 23

Inherited Congenital Spastic Tetraplegia

Categories: Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Inherited Congenital Spastic Tetraplegia

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA210141
UMLS 71 C0393995 C0837178
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Summaries for Inherited Congenital Spastic Tetraplegia

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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 GAD1 (Glutamate Decarboxylase 1). Affiliated tissues include cortex and tongue.

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Related Diseases for Inherited Congenital Spastic Tetraplegia

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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 9.6 KANK1 GAD1
2 cerebral palsy 9.2 KANK1 GAD1 ADD3

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Symptoms & Phenotypes for Inherited Congenital Spastic Tetraplegia

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Drugs & Therapeutics for Inherited Congenital Spastic Tetraplegia

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Postural Management to Prevent Hip Luxation in Quadriplegic Cerebral Palsy Children: Comparing Two Approaches in a Randomized Controlled Trial Recruiting NCT04603625

Search NIH Clinical Center for Inherited Congenital Spastic Tetraplegia

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Genetic Tests for Inherited Congenital Spastic Tetraplegia

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Anatomical Context for Inherited Congenital Spastic Tetraplegia

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MalaCards organs/tissues related to Inherited Congenital Spastic Tetraplegia:

40
Cortex, Tongue
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Publications for Inherited Congenital Spastic Tetraplegia

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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
Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy. 6
9084927 1997
5
Seizure burden and neurodevelopmental outcome in newborns with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia: A single center observational study. 61
33160202 2020
6
Dynamic Surface Exercise Training in Improving Trunk Control and Gross Motor Functions among Children with Quadriplegic Cerebral Palsy: A Single Center, Randomized Controlled Trial. 61
33531934 2020
7
ASSESSMENT OF NUTRITIONAL STATUS AND FREQUENCY OF COMPLICATIONS ASSOCIATED TO FEEDING IN PATIENTS WITH SPASTIC QUADRIPLEGIC CEREBRAL PALSY. 61
32401853 2020
8
Human Parechovirus 3 in Infants: Expanding Our Knowledge of Adverse Outcomes. 61
30204658 2019
9
Intrathecal baclofen toxicity in a patient with acute kidney injury. 61
31476182 2019
10
Does power mobility training impact a child's mastery motivation and spectrum of EEG activity? An exploratory project. 61
28853621 2018
11
Resting energy expenditure in children with cerebral palsy: Accuracy of available prediction formulae and development of a population-specific formula. 61
29779817 2018
12
ASSESSMENT OF NUTRITIONAL STATUS OF CHILDREN AND ADOLESCENTS WITH SPASTIC QUADRIPLEGIC CEREBRAL PALSY. 61
28723982 2017
13
Are we there yet? Evaluating commercial grade brain-computer interface for control of computer applications by individuals with cerebral palsy. 61
26699697 2017
14
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
15
Training to use a commercial brain-computer interface as access technology: a case study. 61
25270615 2016
16
Treatment of os odontoideum in a patient with spastic quadriplegic cerebral palsy. 61
25913747 2015
17
Promoting self-exploration and function through an individualized power mobility training program. 61
25695192 2015
18
Health benefits of seated speed, resistance, and power training for an individual with spastic quadriplegic cerebral palsy: A case report. 61
26410068 2015
19
Autonomic responses to correct outcomes and interaction errors during single-switch scanning among children with severe spastic quadriplegic cerebral palsy. 61
24607065 2014
20
Learning and mastery behaviours as risk factors to abandonment in a paediatric user of advanced single-switch access technology. 61
23336602 2013
21
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
22
Bilateral proximal femur and femoral head regrowth following proximal femoral resection in a child with spastic cerebral palsy. 61
23907179 2013
23
Outcomes after salvage procedures for the painful dislocated hip in cerebral palsy. 61
23752147 2013
24
Antireflux surgery in children with neurological impairment: caregiver perceptions and complications. 61
22785414 2013
25
Complications of intrathecal baclofen pumps in children: experience from a tertiary care center. 61
24577095 2013
26
Disruption of basal lamina components in neuromotor synapses of children with spastic quadriplegic cerebral palsy. 61
23976945 2013
27
Lower extremity orthoses in children with spastic quadriplegic cerebral palsy: implications for nurses, parents, and caregivers. 61
21597341 2011
28
Client-centred development of an infrared thermal access switch for a young adult with severe spastic quadriplegic cerebral palsy. 61
20569118 2011
29
Gastrostomy feeding in cerebral palsy: enough and no more. 61
20964670 2010
30
Rhabdomyolysis as a postoperative complication of multilevel soft-tissue surgery in a child with cerebral palsy. 61
21145515 2010
31
Decreased fracture incidence after 1 year of pamidronate treatment in children with spastic quadriplegic cerebral palsy. 61
20573180 2010
32
Relationships between developmental profiles and ambulatory ability in A follow-up study of preschool children with spastic quadriplegic cerebral palsy. 61
20979703 2010
33
Determinants of ambulation in children with spastic quadriplegic cerebral palsy: a population-based study. 61
19794101 2010
34
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
35
A multiple camera tongue switch for a child with severe spastic quadriplegic cerebral palsy. 61
19941441 2010
36
Follow-up of developmental profiles in children with spastic quadriplegic cerebral palsy. 61
20035642 2009
37
[Multiple epiphyseal separations in a child with cerebral palsy and scurvy]. 61
19752853 2009
38
Cervical kyphosis and thoracic lordoscoliosis in a patient with cerebral palsy. 61
19292233 2008
39
Comorbidities and clinical determinants of outcome in children with spastic quadriplegic cerebral palsy. 61
18248493 2008
40
Outcomes of posterior spinal fusion and instrumentation in patients with continuous intrathecal baclofen infusion pumps. 61
18277862 2008
41
Diagnostic evaluation using whole-body technetium bone scan in children with cerebral palsy and pain. 61
18157055 2008
42
Prolonged, severe intrathecal baclofen withdrawal syndrome: a case report. 61
17964889 2007
43
Epiphyseal separations in spastic cerebral palsy. 61
17414775 2007
44
Oral baclofen in children with cerebral palsy: a double-blind cross-over pilot study. 61
17044900 2006
45
Pamidronate treatment and posttreatment bone density in children with spastic quadriplegic cerebral palsy. 61
16785077 2006
46
Comparison of the ratio of upper to lower chest wall in children with spastic quadriplegic cerebral palsy and normally developed children. 61
16642554 2006
47
Reduced body protein in children with spastic quadriplegic cerebral palsy. 61
16522908 2006
48
Awake upper airway obstruction in children with spastic quadriplegic cerebral palsy. 61
16487389 2006
49
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
50
Bone densitometry in pediatric patients treated with pamidronate. 61
15655696 2005
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Variations for Inherited Congenital Spastic Tetraplegia

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ClinVar genetic disease variations for Inherited Congenital Spastic Tetraplegia:

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KANK1 KANK1, DEL, PATERNAL ALLELE Deletion Pathogenic 2908
2 GAD1 NM_000817.3(GAD1):c.35C>G (p.Ser12Cys) SNV Pathogenic 5060 rs121918345 2:171675136-171675136 2:170818626-170818626
3 ADD3 NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) SNV Pathogenic 242273 rs564185858 10:111882007-111882007 10:110122249-110122249
4 GAD1 NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly) SNV Likely pathogenic 800908 rs1575446166 2:171710521-171710521 2:170854011-170854011
5 GAD1 NM_000817.3(GAD1):c.807G>A (p.Pro269=) SNV Conflicting interpretations of pathogenicity 332232 rs34100397 2:171702071-171702071 2:170845561-170845561
6 GAD1 NM_000817.3(GAD1):c.1173C>T (p.Asn391=) SNV Conflicting interpretations of pathogenicity 332235 rs34856125 2:171705849-171705849 2:170849339-170849339
7 GAD1 NM_000817.3(GAD1):c.1251C>T (p.Leu417=) SNV Conflicting interpretations of pathogenicity 332236 rs35426017 2:171709290-171709290 2:170852780-170852780
8 GAD1 NM_000817.3(GAD1):c.399T>C (p.Asp133=) SNV Conflicting interpretations of pathogenicity 332230 rs112737041 2:171687554-171687554 2:170831044-170831044
9 KANK1 NM_001256877.2(KANK1):c.2885C>T (p.Ala962Val) SNV Uncertain significance 431723 rs1554713996 9:730237-730237 9:730237-730237
10 GAD1 NM_000817.3(GAD1):c.865C>T (p.Gln289Ter) SNV Uncertain significance 565722 rs1181224255 2:171702129-171702129 2:170845619-170845619
11 GAD1 NM_000817.3(GAD1):c.1334C>T (p.Ser445Phe) SNV Uncertain significance 580637 rs1169710215 2:171710453-171710453 2:170853943-170853943
12 KANK1 NM_001256876.2(KANK1):c.130G>T (p.Asp44Tyr) SNV Uncertain significance 592115 rs1564032190 9:710896-710896 9:710896-710896
13 GAD1 NM_000817.3(GAD1):c.1251_1252delinsTT (p.Val418Phe) Indel Uncertain significance 640674 rs1575445561 2:171709290-171709291 2:170852780-170852781
14 GAD1 NM_000817.3(GAD1):c.266G>A (p.Arg89Gln) SNV Uncertain significance 648089 rs201233553 2:171686105-171686105 2:170829595-170829595
15 GAD1 NM_000817.3(GAD1):c.1611+5G>A SNV Uncertain significance 648176 rs147201199 2:171715408-171715408 2:170858898-170858898
16 GAD1 NM_000817.3(GAD1):c.34T>A (p.Ser12Thr) SNV Uncertain significance 648983 rs149074954 2:171675135-171675135 2:170818625-170818625
17 GAD1 NM_000817.3(GAD1):c.1002+4T>G SNV Uncertain significance 660060 rs139531653 2:171702577-171702577 2:170846067-170846067
18 GAD1 NM_000817.3(GAD1):c.1614G>C (p.Val538=) SNV Uncertain significance 332243 rs886055099 2:171716221-171716221 2:170859711-170859711
19 GAD1 NM_000817.3(GAD1):c.380A>T (p.Tyr127Phe) SNV Uncertain significance 332229 rs141004978 2:171687535-171687535 2:170831025-170831025
20 GAD1 NM_000817.3(GAD1):c.*764G>T SNV Uncertain significance 332249 rs886055100 2:171717156-171717156 2:170860646-170860646
21 GAD1 NM_013445.3(GAD1):c.-401T>G SNV Uncertain significance 332212 rs375137598 2:171673225-171673225 2:170816715-170816715
22 GAD1 NM_000817.3(GAD1):c.-161G>A SNV Uncertain significance 332218 rs886055096 2:171673461-171673461 2:170816951-170816951
23 GAD1 NM_000817.3(GAD1):c.1290G>A (p.Met430Ile) SNV Uncertain significance 332238 rs761887714 2:171710409-171710409 2:170853899-170853899
24 GAD1 NM_000817.3(GAD1):c.867+9G>A SNV Uncertain significance 332233 rs369785577 2:171702140-171702140 2:170845630-170845630
25 GAD1 NM_000817.3(GAD1):c.*1205G>A SNV Uncertain significance 332253 rs45537831 2:171717597-171717597 2:170861087-170861087
26 GAD1 NM_013445.3(GAD1):c.-292T>C SNV Uncertain significance 332213 rs754019434 2:171673334-171673334 2:170816824-170816824
27 GAD1 NM_000817.3(GAD1):c.-176G>C SNV Uncertain significance 332216 rs886055095 2:171673446-171673446 2:170816936-170816936
28 GAD1 NM_000817.3(GAD1):c.-161G>T SNV Uncertain significance 332219 rs886055096 2:171673461-171673461 2:170816951-170816951
29 GAD1 NM_000817.3(GAD1):c.-53C>A SNV Uncertain significance 332222 rs886055097 2:171675049-171675049 2:170818539-170818539
30 GAD1 NM_000817.3(GAD1):c.17C>T (p.Pro6Leu) SNV Uncertain significance 332225 rs886055098 2:171675118-171675118 2:170818608-170818608
31 GAD1 NM_000817.3(GAD1):c.268C>T (p.Arg90Cys) SNV Uncertain significance 332228 rs373042715 2:171686107-171686107 2:170829597-170829597
32 GAD1 NM_013445.3(GAD1):c.-259G>A SNV Uncertain significance 332214 rs545676026 2:171673367-171673367 2:170816857-170816857
33 GAD1 NM_000817.3(GAD1):c.*394G>A SNV Uncertain significance 332245 rs746308188 2:171716786-171716786 2:170860276-170860276
34 GAD1 NM_000817.3(GAD1):c.682A>C (p.Ile228Leu) SNV Uncertain significance 332231 rs45566933 2:171700598-171700598 2:170844088-170844088
35 GAD1 NM_000817.3(GAD1):c.1252G>T (p.Val418Phe) SNV Uncertain significance 332237 rs143058194 2:171709291-171709291 2:170852781-170852781
36 GAD1 NM_000817.3(GAD1):c.*431G>A SNV Uncertain significance 332246 rs780421116 2:171716823-171716823 2:170860313-170860313
37 GAD1 NM_000817.3(GAD1):c.147C>T (p.Gly49=) SNV Uncertain significance 894403 2:171685986-171685986 2:170829476-170829476
38 GAD1 NM_000817.3(GAD1):c.264C>G (p.Phe88Leu) SNV Uncertain significance 894404 2:171686103-171686103 2:170829593-170829593
39 GAD1 NM_000817.3(GAD1):c.*419T>G SNV Uncertain significance 894430 2:171716811-171716811 2:170860301-170860301
40 GAD1 NM_000817.3(GAD1):c.*561A>C SNV Uncertain significance 894431 2:171716953-171716953 2:170860443-170860443
41 GAD1 NM_000817.3(GAD1):c.*737G>A SNV Uncertain significance 894432 2:171717129-171717129 2:170860619-170860619
42 GAD1 NM_000817.3(GAD1):c.92C>T (p.Thr31Ile) SNV Uncertain significance 930848 2:171678606-171678606 2:170822096-170822096
43 KANK1 NM_015158.4(KANK1):c.2933T>C (p.Met978Thr) SNV Uncertain significance 417878 rs753441206 9:731194-731194 9:731194-731194
44 GAD1 NM_000817.3(GAD1):c.-29A>G SNV Uncertain significance 332224 rs551237040 2:171675073-171675073 2:170818563-170818563
45 GAD1 NM_000817.3(GAD1):c.265C>T (p.Arg89Trp) SNV Uncertain significance 332227 rs150841255 2:171686104-171686104 2:170829594-170829594
46 GAD1 NM_000817.3(GAD1):c.1638G>C (p.Met546Ile) SNV Uncertain significance 843952 2:171716245-171716245 2:170859735-170859735
47 GAD1 NM_000817.3(GAD1):c.1525G>C (p.Glu509Gln) SNV Uncertain significance 849804 2:171715317-171715317 2:170858807-170858807
48 GAD1 NM_013445.3(GAD1):c.-399G>T SNV Uncertain significance 892920 2:171673227-171673227 2:170816717-170816717
49 GAD1 NM_013445.3(GAD1):c.-296C>T SNV Uncertain significance 892921 2:171673330-171673330 2:170816820-170816820
50 GAD1 NM_000817.3(GAD1):c.933A>G (p.Ile311Met) SNV Uncertain significance 892957 2:171702281-171702281 2:170845771-170845771
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Expression for Inherited Congenital Spastic Tetraplegia

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

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GO Terms for Inherited Congenital Spastic Tetraplegia

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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
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Sources for Inherited Congenital Spastic Tetraplegia

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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
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