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1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Syndactyly type 3
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

GJA1 HADHA


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Syndactyly type 3
GJA1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA



Syndactyly type 3
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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

Synonym(s):
- LCHAD deficiency
- LCHADD

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: 1-9 / 100 000
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 -
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


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

(no data available)