Details of Disease | DrugMAP

General Information of Disease (ID: DISGRPVO)

Disease Name	Attenuated Chdiak-Higashi syndrome
Synonyms	atypical Chediak-Higashi syndrome; attenuated Chediak-Higashi syndrome; atypical Chdiak-Higashi syndrome
Definition	Attenuated Chdiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DISPN7D2: Inherited neurodegenerative disorder DISGRPVO: Attenuated Chdiak-Higashi syndrome
Disease Identifiers	MONDO ID MONDO_0018133 UMLS CUI C4304022 MedGen ID 929691 Orphanet ID 352723 SNOMED CT ID 720520009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LYST	OTIUB1B3	Supportive	Autosomal recessive	[1]
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References

1	Atypical Chdiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. Orphanet J Rare Dis. 2013 Mar 22;8:46. doi: 10.1186/1750-1172-8-46.