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Chédiak-Higashi syndrome
1 OMIM reference -
1 associated gene
11 connected diseases
40 signs/symptoms
Disease Type of connection
Attenuated Chédiak-Higashi syndrome
Dentatorubral pallidoluysian atrophy
Blepharophimosis-intellectual deficit syndrome, MKB type
Catecholaminergic polymorphic ventricular tachycardia
FG syndrome type 1
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Autosomal recessive primary microcephaly
Familial isolated dilated cardiomyopathy
Familial isolated restrictive cardiomyopathy
Seckel syndrome
Synonym(s):
- Chédiak-Higashi disease
- Chédiak-Higashi-Steinbrink 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 (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
External references:
1 OMIM reference -
1 MeSH reference: D002609
Gene symbol UniProt reference OMIM reference
LYST Q99698606897
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