Preferred Label : pelizaeus-merzbacher disease;
MeSH definition : A rare, slowly progressive disorder of myelin formation. Subtypes are referred to
as classic, congenital, transitional, and adult forms of this disease. The classic
form is X-chromosome linked, has its onset in infancy and is associated with a mutation
of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans,
roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs
by the third decade of life. The congenital form has similar characteristics but presents
early in infancy and features rapid disease progression. Transitional and adult subtypes
have a later onset and less severe symptomatology. Pathologic features include patchy
areas of demyelination with preservation of perivascular islands (trigoid appearance).
(From Menkes, Textbook of Child Neurology, 5th ed, p190);
MeSH synonym : pelizaeus merzbacher disease; leukodystrophy, hypomyelinating, 1; Pelizaeus-Merzbacher Sclerosis, Brain; Brain Pelizaeus-Merzbacher Sclerosis; Pelizaeus Merzbacher Sclerosis, Brain; Pelizaeus-Merzbacher Brain Sclerosis; Brain Sclerosis, Pelizaeus-Merzbacher; Pelizaeus Merzbacher Brain Sclerosis;
CISMeF synonym : Pelizaeus-Merzbacher; Pelizaeus Merzbacher; pelizaeus-merzbacher's disease; adult Pelizaeus-Merzbacher diseases; atypical Pelizaeus-Merzbacher diseases; diseases, adult Pelizaeus-Merzbacher; diseases, atypical Pelizaeus-Merzbacher; Pelizaeus-Merzbacher diseases, adult; Pelizaeus-Merzbacher diseases, atypical; sclerosis; brain, Pelizaeus-Merzbacher; Pelizaeus-Merzbacher sclerosis; brain; sclerosis; brain, pelizaeus merzbacher;
MeSH hyponym : Pelizaeus-Merzbacher disease, transitional; adult Pelizaeus-Merzbacher disease; classic Pelizaeus-Merzbacher disease; Cockayne-Pelizaeus-Merzbacher disease; Pelizaeus-Merzbacher disease, atypical; Pelizaeus Merzbacher Disease, Transitional; Transitional Pelizaeus-Merzbacher Disease; Transitional Pelizaeus Merzbacher Disease; Cockayne Pelizaeus Merzbacher Disease; Pelizaeus Merzbacher Disease, Atypical; Atypical Pelizaeus-Merzbacher Disease; Atypical Pelizaeus Merzbacher Disease; Adult Pelizaeus Merzbacher Disease; Pelizaeus-Merzbacher Disease, Adult; Pelizaeus Merzbacher Disease, Adult; Classic Pelizaeus Merzbacher Disease; Pelizaeus-Merzbacher Disease, Classic; Pelizaeus Merzbacher Disease, Classic;
Origin ID : D020371;
UMLS CUI : C0205711;
Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- HPO term
- Indexing information
- Manual NTBT mappings (CISMeF)
- ORDO relation(s)
- Record concept(s)
- Related MeSH Supplementary Concept(s)
- See also
- Semantic type(s)
- UMLS correspondences (same concept)
A rare, slowly progressive disorder of myelin formation. Subtypes are referred to
as classic, congenital, transitional, and adult forms of this disease. The classic
form is X-chromosome linked, has its onset in infancy and is associated with a mutation
of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans,
roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs
by the third decade of life. The congenital form has similar characteristics but presents
early in infancy and features rapid disease progression. Transitional and adult subtypes
have a later onset and less severe symptomatology. Pathologic features include patchy
areas of demyelination with preservation of perivascular islands (trigoid appearance).
(From Menkes, Textbook of Child Neurology, 5th ed, p190)
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=702
2011
true
France
French
rare diseases
pelizaeus-merzbacher disease
pelizaeus-merzbacher disease
signs and symptoms
scientific and technical information
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