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1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
No signs/symptoms info
Syndactyly type 3
Autosomal dominant progressive external ophthalmoplegia

GJA1 C10ORF2
POLG
POLG2
RRM2B
SLC25A4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
(0.63)
SLC25A4



Citations in the biomedical literature:


Syndactyly type 3
GJA1
Autosomal dominant progressive external ophthalmoplegia
C10ORF2 POLG POLG2 RRM2B SLC25A4



Syndactyly type 3
Autosomal dominant progressive external ophthalmoplegia

Synonym(s):
- SD3
- Syndactyly of fingers 4 and 5

Synonym(s):
- adPEO

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C538154
External references:
5 OMIM references -
No MeSH references

Syndactyly type 3

Very frequent
- Autosomal dominant inheritance
- Syndactyly of fingers / interdigital palm

Frequent
- Camptodactyly of some fingers

Occasional
- Short foot / brachydactyly of toes


Autosomal dominant progressive external ophthalmoplegia

(no data available)