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1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
5 associated genes
No signs/symptoms info
Syndactyly type 3
Hereditary spherocytosis

GJA1 ANK1
EPB42
SLC4A1
SPTA1
SPTB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
(0.63)
SPTA1



Citations in the biomedical literature:


Syndactyly type 3
GJA1
Hereditary spherocytosis
ANK1 EPB42 SLC4A1 SPTA1 SPTB



Syndactyly type 3
Hereditary spherocytosis

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

Synonym(s):
- Minkowski-Chauffard disease

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C538154
External references:
4 OMIM references -
2 MeSH references: C536356 / D013103

Syndactyly type 3

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

Frequent
- Camptodactyly of some fingers

Occasional
- Short foot / brachydactyly of toes


Hereditary spherocytosis

(no data available)