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Familial caudal dysgenesis
1 OMIM reference -
1 associated gene
13 connected diseases
15 signs/symptoms
Disease Type of connection
Caudal regression sequence
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Synonym(s):
- Rudd-Klimek syndrome
Classification (Orphanet):
- Rare abdominal surgical disease
- 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
VANGL1 Q8TAA9610132
Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Single umbilical artery

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Anus ectopia / anteposition / malposition
- Bladder and ureter anomalies
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Oligoamnios
- Sacrococcyx agenesis
- Stillbirth / neonatal death
- Transposition of great vessels
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter
- Uterine / uterus / Fallopian tubes anomalies