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Cervical spina bifida aperta
6 associated genes
43 connected diseases
No signs/symptoms info
Disease Type of connection
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
Caudal regression sequence
Isolated anencephaly / exencephaly
Arnold-Chiari malformation type II
Chordoma
Familial caudal dysgenesis
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Methotrexate poisoning
Autosomal dominant hypohidrotic ectodermal dysplasia
Alternating hemiplegia of childhood
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Common variable immunodeficiency
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Familial isolated dilated cardiomyopathy
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Muscular dystrophy, Selcen type
Pseudohypoaldosteronism type 2E
Rapid-onset dystonia-parkinsonism
Short stature due to growth hormone qualitative anomaly
Well-differentiated liposarcoma
ALDH18A1-related De Barsy syndrome
Amyotrophic lateral sclerosis
Glycogen storage disease due to acid maltase deficiency, adult onset
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, juvenile onset
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Pyruvate carboxylase deficiency, benign type
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
TMEM165-CDG
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: multigenic/multifactorial
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.