Terminology Service for NFDI4Health
A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
Instance info
Synonyms
Disease, Von Bogaert-Bertrand, Disease, Canavan, Canavan Disease, Infantile, Canavan-Krankheit (DE), Disease, Canavan-van Bogaert-Bertrand, Von Bogaert-Bertrand Disease, Spongy Disease of White Matter, Aminoacylase 2 Deficiency, Canavan Disease, Type I, Familial Form of Canavan Disease, Type III Canavan Disease, Canavan Disease, Sporadic Form, Spongy Degeneration of the Brain, Canavan van Bogaert Bertrand Disease, Morbus Canavan-van-Bogaert-Bertrand (DE), Spongiform Leukodystrophy, ASPA Deficiency, Infantile Canavan Disease, Canavan Disease, Juvenile, Canavan-van Bogaert-Bertrand Disease, Type II Canavan Disease, Spongy Disease of Central Nervous System, ASP Deficiency, Type I Canavan Disease, Canavan Disease, Familial Form, Deficiency Disease, Aspartoacylase, Canavan Disease, Neonatal, Spongy Degeneration of the Central Nervous System, Canavan Disease, Type III, ACY2 Deficiency, Canavan Disease, Type II, Neonatal Canavan Disease, Von Bogaert Bertrand Disease, Sporadic Form of Canavan Disease, Spongy Degeneration of White Matter In Infancy, Leukodystrophy, Spongiform, Spongiöse Hirndystrophie (DE), Leukodystrophie, spongiöse (DE), Spongy Degeneration Of Central Nervous System, Juvenile Canavan Disease, Aspartoacylase Deficiency, Spongy Degeneration of Infancy, Van Bogaert Bertrand Syndrome, Van Bogaert-Bertrand Syndrome, Syndrome, Van Bogaert-Bertrand
AN
do not confuse X ref CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS; DF: CANAVAN DIS
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
DC
1
DX
19940101
HN
94
MDA
19930216
MMR
20130708
MN
C10.228.140.695.625.375,C18.452.132.100.362.375,C10.574.500.300,C16.320.400.150,C10.228.140.163.100.362.375,C16.320.565.189.362.375,C10.314.400.375,C18.452.648.189.362.375
PM
94
QB
http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
SIB
http://purl.bioontology.org/ontology/MESH/D014402,http://purl.bioontology.org/ontology/MESH/D009472,http://purl.bioontology.org/ontology/MESH/D009477,http://purl.bioontology.org/ontology/MESH/D013132,http://purl.bioontology.org/ontology/MESH/D015418,http://purl.bioontology.org/ontology/MESH/D020192,http://purl.bioontology.org/ontology/MESH/D015417,http://purl.bioontology.org/ontology/MESH/D028227,http://purl.bioontology.org/ontology/MESH/D006816,http://purl.bioontology.org/ontology/MESH/D038261,http://purl.bioontology.org/ontology/MESH/D016098,http://purl.bioontology.org/ontology/MESH/D007966,http://purl.bioontology.org/ontology/MESH/D007965,http://purl.bioontology.org/ontology/MESH/D014897,http://purl.bioontology.org/ontology/MESH/D009224,http://purl.bioontology.org/ontology/MESH/D006211,http://purl.bioontology.org/ontology/MESH/D009223,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D005879,http://purl.bioontology.org/ontology/MESH/D020371,http://purl.bioontology.org/ontology/MESH/D020194,http://purl.bioontology.org/ontology/MESH/D004422,http://purl.bioontology.org/ontology/MESH/D054546,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D055534,http://purl.bioontology.org/ontology/MESH/D017253,http://purl.bioontology.org/ontology/MESH/D020279,http://purl.bioontology.org/ontology/MESH/D000326,http://purl.bioontology.org/ontology/MESH/D006527
TERMUI
T371390,T371391,T371392,T371371,T371372,T053280,T371373,T053281,T371374,T371375,T371376,T371377,T371378,T371379,T812099,T761509,T761391,T761393,T761392,T841059,T371380,T371381,T371382,T841061,T371383,T371384,T371385,T841060,T844192,T844191,T844190,T053279,T053277,T053278
TH
GHR (2014),ORD (2010),OMIM (2013),NLM (2011),NLM (2000),NLM (1994)
cui
C3542499,C0206307,C0751666,C0751667,C0751664,C0751665,C0751663
hasSTY
http://purl.bioontology.org/ontology/STY/T047
tui
T047
Instance relations
Types