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Chédiak-Higashi syndrome
1 OMIM reference -
1 associated gene
40 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 14
Attenuated Chédiak-Higashi syndrome
1 associated gene
16 signs/symptoms
Chédiak-Higashi syndrome
Attenuated Chédiak-Higashi syndrome

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

COMMON
GENES 		LYST


Citations in the biomedical literature:


Chédiak-Higashi syndrome
LYST
Attenuated Chédiak-Higashi syndrome



Chédiak-Higashi syndrome
Attenuated Chédiak-Higashi syndrome

Synonym(s):
- Chédiak-Higashi disease
- Chédiak-Higashi-Steinbrink syndrome
Synonym(s):
- Atypical Chédiak-Higashi syndrome
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):
- Endocrine, nutritional and metabolic diseases -
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 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D002609
External references:
No OMIM references
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance
- Bruisability
- Chronic skin infection / ulcerations / ulcers / cancrum
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Epistaxis / nose bleeding
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Extrapyramidal syndrome
- Gingivorrhagia / gingival bleeding
- Hypertonia / spasticity / rigidity / stiffness
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Iris albinism / ocular albinism
- Peripheral neuropathy
- Repeat respiratory infections

Chédiak-Higashi syndrome
Attenuated Chédiak-Higashi syndrome

Very frequent
- Albinism (hair)
- Alveolysis / paraodontitis
- Anaemia
- Areflexia / hyporeflexia
- Bone marrow / medullar infiltration
- Decreased hair pigmentation / hypopigmentation of hair
- Fever / chilling
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lymphadenopathy / polyadenopathies
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Polynuclear cells / neutrophils anomalies / neutropenia
- Splenomegaly
- Thrombocytopenia / thrombopenia

Frequent
- Ecchymoses
- Nystagmus
- Photophobia
- Tremor
- Visual loss / blindness / amblyopia

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Early death / lethality
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hepatitis / icterus / cholestasis
- Movement disorder
- Psychic / psychomotor regression / dementia / intellectual decline


Very frequent
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding

Occasional
- Ataxia / incoordination / trouble of the equilibrium