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1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Syndactyly type 3
Mitochondrial trifunctional protein deficiency

GJA1 HADHA
HADHB


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Syndactyly type 3
GJA1
Mitochondrial trifunctional protein deficiency
HADHA HADHB



Syndactyly type 3
Mitochondrial trifunctional protein deficiency

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

Synonym(s):
- TFP deficiency
- TFPD

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C538154
External references:
1 OMIM reference -
1 MeSH reference: D024741

Syndactyly type 3

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

Frequent
- Camptodactyly of some fingers

Occasional
- Short foot / brachydactyly of toes


Mitochondrial trifunctional protein deficiency

(no data available)