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Kostmann syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Primary dystonia, DYT4 type
1 OMIM reference -
1 associated gene
No signs/symptoms info
Kostmann syndrome
Primary dystonia, DYT4 type

HAX1
(UniProt - OMIM)
 TUBB4A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HAX1
(0.63)
TUBB4A


Citations in the biomedical literature:


Kostmann syndrome
HAX1
Primary dystonia, DYT4 type
TUBB4A



Kostmann syndrome
Primary dystonia, DYT4 type

Synonym(s):
(no synonyms)

Synonym(s):
- DYT4
- Hereditary whispering dysphonia
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.