Isolated spina bifida
diseaseOn this page
Also known as cleft spineisolated spina bifida (disease)nonsyndromic spina bifida (disease)open spine
Summary
Isolated spina bifida (MONDO:0019351) is a disease. A subtype of spina bifida — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
Clinical features
Epidemiology
Prevalence records
22 prevalence record(s), Orphanet, top 20 (validated / broadest geography first):
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | Europe | Validated | |
| Prevalence at birth | 1-5 / 10 000 | 18.6 | Europe | Validated |
| Point prevalence | 1-5 / 10 000 | 50 | France | Validated |
| Prevalence at birth | 1-5 / 10 000 | 24.8 | United States | Validated |
| Prevalence at birth | 1-9 / 100 000 | 9.8 | Austria | Validated |
| Prevalence at birth | 1-5 / 10 000 | 17.5 | Belgium | Validated |
| Prevalence at birth | 1-5 / 10 000 | 11.4 | Croatia | Validated |
| Prevalence at birth | 1-5 / 10 000 | 21.3 | Denmark | Validated |
| Prevalence at birth | 1-5 / 10 000 | 19.6 | France | Validated |
| Prevalence at birth | 1-5 / 10 000 | 17.8 | Germany | Validated |
| Prevalence at birth | 1-5 / 10 000 | 14.4 | Hungary | Validated |
| Prevalence at birth | 1-5 / 10 000 | 50.6 | Ireland | Validated |
| Prevalence at birth | 1-5 / 10 000 | 12.7 | Italy | Validated |
| Prevalence at birth | 1-5 / 10 000 | 24.9 | Malta | Validated |
| Prevalence at birth | 1-5 / 10 000 | 17.5 | Netherlands | Validated |
| Prevalence at birth | 1-5 / 10 000 | 14.7 | Norway | Validated |
| Prevalence at birth | 1-5 / 10 000 | 24.4 | Poland | Validated |
| Prevalence at birth | 1-5 / 10 000 | 18.9 | Portugal | Validated |
| Prevalence at birth | 1-9 / 100 000 | 5 | Spain | Validated |
| Prevalence at birth | 1-5 / 10 000 | 12.6 | Switzerland | Validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | isolated spina bifida |
| Mondo ID | MONDO:0019351 |
| Orphanet | 823 |
| GARD | 0007673 |
| MedDRA | 10041524 |
| Is cancer (heuristic) | no |
Also known as: cleft spine · isolated spina bifida (disease) · nonsyndromic spina bifida (disease) · open spine
Disease family
This is a subtype of spina bifida. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › spina bifida › isolated spina bifida
Related subtypes (1): spina bifida occulta
Subtypes (4): neural tube defects, X-linked, neural tube defects, folate-sensitive, spina bifida aperta, spina bifida cystica
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.