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Craniorachischisis
1 associated gene
11 connected diseases
7 signs/symptoms
Disease Type of connection
Occipital encephalocele
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
17p13.3 microduplication syndrome
Burkitt lymphoma
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: multigenic/multifactorial
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
DACT1 Q9NYF0607861
Very frequent
- Anencephaly / acrania
- Early death / lethality
- Spina bifida

Occasional
- Diaphragmatic hernia / defect / agenesis
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Omphalocele / exomphalos
- Sirenomelia / mermaid / lower limb fusion