Cytoscape Web
Click node...

Chédiak-Higashi syndrome
1 OMIM reference -
1 associated gene
40 signs/symptoms
PROTEIN INTERACTIONS: 1
Dentatorubral pallidoluysian atrophy
1 OMIM reference -
1 associated gene
No signs/symptoms info
Chédiak-Higashi syndrome
Dentatorubral pallidoluysian atrophy

LYST
(UniProt - OMIM)
 ATN1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LYST
(0.75)
ATN1


Citations in the biomedical literature:


Chédiak-Higashi syndrome
LYST
Dentatorubral pallidoluysian atrophy
ATN1



Chédiak-Higashi syndrome
Dentatorubral pallidoluysian atrophy

Synonym(s):
- Chédiak-Higashi disease
- Chédiak-Higashi-Steinbrink syndrome
Synonym(s):
- DRPLA
- Dentatorubropallidoluysian atrophy
- Naito-Oyanagi disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare neurologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D002609
External references:
1 OMIM reference -
No MeSH references
Chédiak-Higashi syndrome

Very frequent
- Albinism (hair)
- Alveolysis / paraodontitis
- Anaemia
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Bone marrow / medullar infiltration
- Bruisability
- Chronic skin infection / ulcerations / ulcers / cancrum
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Fever / chilling
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Gingivorrhagia / gingival bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Iris albinism / ocular albinism
- Lymphadenopathy / polyadenopathies
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Peripheral neuropathy
- Polynuclear cells / neutrophils anomalies / neutropenia
- Repeat respiratory infections
- Splenomegaly
- Thrombocytopenia / thrombopenia

Frequent
- Ecchymoses
- Epistaxis / nose bleeding
- Nystagmus
- Photophobia
- Tremor
- Visual loss / blindness / amblyopia

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Early death / lethality
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Extrapyramidal syndrome
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hepatitis / icterus / cholestasis
- Hypertonia / spasticity / rigidity / stiffness
- Movement disorder
- Psychic / psychomotor regression / dementia / intellectual decline


Dentatorubral pallidoluysian atrophy

(no data available)