Details of Disease | DrugMAP

General Information of Disease (ID: DISY1WQV)

Disease Name	Alexander disease type II
Synonyms	AxD type II
Definition	Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.
Disease Hierarchy	DISDL1IO: Alexander disease DISY1WQV: Alexander disease type II
Disease Identifiers	MONDO ID MONDO_0018210 UMLS CUI C5679914 MedGen ID 1842714 Orphanet ID 363722

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GFAP	TTI6FFX	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GFAP	OTQ01ZAS	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Alexander Disease. 2002 Nov 15 [updated 2020 Nov 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.