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Attenuated Chédiak-Higashi syndrome
1 associated gene
11 connected diseases
16 signs/symptoms
Disease Type of connection
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):
- Atypical Chédiak-Higashi syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
LYST Q99698606897
Very frequent
- Autosomal recessive inheritance
- Bruisability
- Chronic skin infection / ulcerations / ulcers / cancrum
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Epistaxis / nose bleeding
- Gingivorrhagia / gingival bleeding
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Iris albinism / ocular albinism
- Peripheral neuropathy
- Repeat respiratory infections

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Extrapyramidal syndrome
- Hypertonia / spasticity / rigidity / stiffness