MCID: TTL009
MIFTS: 18

Total Spina Bifida Aperta

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Total Spina Bifida Aperta

MalaCards integrated aliases for Total Spina Bifida Aperta:

Name: Total Spina Bifida Aperta 58

Characteristics:

Orphanet epidemiological data:

58
total spina bifida aperta
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA268377

Summaries for Total Spina Bifida Aperta

MalaCards based summary : Total Spina Bifida Aperta is related to isolated anencephaly and isolated exencephaly. An important gene associated with Total Spina Bifida Aperta is FUZ (Fuzzy Planar Cell Polarity Protein), and among its related pathways/superpathways is One carbon pool by folate. Affiliated tissues include spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Total Spina Bifida Aperta

Diseases in the Spina Bifida Aperta family:

Total Spina Bifida Aperta

Diseases related to Total Spina Bifida Aperta via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 isolated anencephaly 9.9 VANGL2 MTHFR
2 isolated exencephaly 9.9 VANGL2 MTHFR
3 choline deficiency disease 9.9 MTHFR MTHFD1
4 neural tube defects, folate-sensitive 9.8 MTHFR MTHFD1
5 placental abruption 9.7 MTHFR MTHFD1
6 sacral defect with anterior meningocele 9.7 VANGL1 FUZ
7 omphalocele 9.7 MTHFR MTHFD1
8 tethered spinal cord syndrome 9.7 VANGL1 MTHFD1
9 spina bifida occulta 9.6 MTHFR MTHFD1 FUZ
10 brachydactyly, type b1 9.6 VANGL2 VANGL1
11 megaloblastic anemia 9.5 MTHFR MTHFD1
12 ocular motility disease 9.5 VANGL2 VANGL1
13 myelomeningocele 8.9 VANGL2 VANGL1 MTHFR MTHFD1
14 physical disorder 8.9 VANGL2 VANGL1 MTHFR MTHFD1
15 anencephaly 8.5 VANGL2 VANGL1 TBXT MTHFR MTHFD1
16 cervicothoracic spina bifida aperta 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
17 cervical spina bifida aperta 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
18 lumbosacral spina bifida aperta 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
19 thoracolumbosacral spina bifida aperta 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
20 upper thoracic spina bifida aperta 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
21 total spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
22 thoracolumbosacral spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
23 lumbosacral spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
24 cervical spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
25 cervicothoracic spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
26 upper thoracic spina bifida cystica 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
27 neural tube defects 8.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ

Graphical network of the top 20 diseases related to Total Spina Bifida Aperta:



Diseases related to Total Spina Bifida Aperta

Symptoms & Phenotypes for Total Spina Bifida Aperta

GenomeRNAi Phenotypes related to Total Spina Bifida Aperta according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.4 TBXT VANGL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.4 TBXT
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.4 TBXT
4 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.4 VANGL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.4 VANGL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.4 VANGL1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.4 TBXT
8 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.4 TBXT
9 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.4 VANGL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.4 VANGL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.4 TBXT

MGI Mouse Phenotypes related to Total Spina Bifida Aperta:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 FUZ MTHFD1 TBXT VANGL1 VANGL2
2 growth/size/body region MP:0005378 9.8 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
3 embryo MP:0005380 9.77 FUZ MTHFD1 TBXT VANGL1 VANGL2
4 limbs/digits/tail MP:0005371 9.73 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
5 mortality/aging MP:0010768 9.63 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
6 nervous system MP:0003631 9.43 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
7 skeleton MP:0005390 9.02 FUZ MTHFR TBXT VANGL1 VANGL2

Drugs & Therapeutics for Total Spina Bifida Aperta

Search Clinical Trials , NIH Clinical Center for Total Spina Bifida Aperta