Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
3 associated genes
No signs/symptoms info
X-linked diffuse leiomyomatosis - Alport syndrome
Proximal spinal muscular atrophy type 3

COL4A5 NAIP
COL4A6 SMN1
SMN2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A5
COL4A5
(0.63)
(0.63)
SMN1
SMN2



Citations in the biomedical literature:


X-linked diffuse leiomyomatosis - Alport syndrome
COL4A5 COL4A6
Proximal spinal muscular atrophy type 3
NAIP SMN1 SMN2



X-linked diffuse leiomyomatosis - Alport syndrome
Proximal spinal muscular atrophy type 3

Synonym(s):
- Xq22.3 microdeletion syndrome

Synonym(s):
- Juvenile spinal muscular atrophy
- Kugelberg-Welander disease
- SMA type 3
- SMA-III
- SMA3

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

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: 1-9 / 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

No signs/symptoms info available.