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Kleefstra syndrome due to a point mutation
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Dehydratase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Kleefstra syndrome due to a point mutation
Dehydratase deficiency

EHMT1
(UniProt - OMIM)
 PCBD1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
EHMT1
(0.63)
PCBD1


Citations in the biomedical literature:


Kleefstra syndrome due to a point mutation
EHMT1
Dehydratase deficiency
PCBD1



Kleefstra syndrome due to a point mutation
Dehydratase deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Hyperphenylalaninemia due to dehydratase deficiency
- Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.