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2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Alternating hemiplegia of childhood
Spondylocarpotarsal synostosis

ATP1A2 FLNB
ATP1A3
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC1A3
(0.63)
FLNB



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Spondylocarpotarsal synostosis
FLNB



Alternating hemiplegia of childhood
Spondylocarpotarsal synostosis

Synonym(s):
- AHC
- Alternating hemiplegia in childhood

Synonym(s):
- Synspondylism

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: C536589
External references:
1 OMIM reference -
No MeSH references

Spondylocarpotarsal synostosis

Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Carpal bones fusion / synostosis
- Lordosis
- Restricted joint mobility / joint stiffness / ankylosis
- Short rib cage / thorax
- Vertebral segmentation anomaly / hemivertebrae

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Conductive deafness / hearing loss
- Pectus excavatum
- Polycystic kidneys
- Sensorineural deafness / hearing loss


Alternating hemiplegia of childhood

(no data available)