Cytoscape Web
Click node...


2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Inherited congenital spastic tetraplegia
Spondylocarpotarsal synostosis

ADD3 FLNB
GAD1
KANK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GAD1
(0.63)
FLNB



Citations in the biomedical literature:


Inherited congenital spastic tetraplegia
ADD3 GAD1 KANK1
Spondylocarpotarsal synostosis
FLNB



Inherited congenital spastic tetraplegia
Spondylocarpotarsal synostosis

Synonym(s):
- Inherited congenital spastic quadriplegia

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):
(no data available)
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: -
Type of inheritance: autosomal recessive
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 -
No MeSH references
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


Inherited congenital spastic tetraplegia

(no data available)