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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
X-linked diffuse leiomyomatosis - Alport syndrome
Congenital stromal corneal dystrophy

COL4A5 DCN
COL4A6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A6
COL4A5
(0.62)
(0.52)
DCN
DCN



Citations in the biomedical literature:


X-linked diffuse leiomyomatosis - Alport syndrome
COL4A5 COL4A6
Congenital stromal corneal dystrophy
DCN



X-linked diffuse leiomyomatosis - Alport syndrome
Congenital stromal corneal dystrophy

Synonym(s):
- Xq22.3 microdeletion syndrome

Synonym(s):
- CSCD
- Congenital hereditary stromal dystrophy
- Witschel dystrophy

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

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

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 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.