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Pelizaeus-Merzbacher Disease (CUI C0205711) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0205711

NCI Thesaurus Code: C75487  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An X-linked inherited disorder caused by mutations in the PLP1 gene on chromosome X. The signs and symptoms are the result of defective myelination of the central nervous system and include nystagmus, hypotonia, tremor, ataxia, spastic quadriparesis, and diffuse leukoencephalopathy.

GARD Definition: Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males. - this information is from GARD/ORDR/NCATS.

MSH 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)

Synonyms & Abbreviations: (see Synonym Details)
Brain Pelizaeus-Merzbacher Sclerosis
Brain Sclerosis, Pelizaeus-Merzbacher
Diffuse familial brain sclerosis
HLD1
Leukodystrophy, Hypomyelinating, 1
Leukodystrophy, sudanophilic
Pelizaeus Merzbacher brain sclerosis
Pelizaeus Merzbacher disease
PELIZAEUS MERZBACHER DIS
Pelizaeus Merzbacher Sclerosis, Brain
Pelizaeus-Merzbacher brain sclerosis
Pelizaeus-Merzbacher disease (disorder)
Pelizaeus-Merzbacher Disease [Disease/Finding]
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher Sclerosis, Brain
PMD
Sclerosis; Brain, Pelizaeus-Merzbacher
Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Sudanophilic leukodystrophy

External Source Codes: 
NCI Thesaurus Code C75487 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID F1002 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-5479 CSP
DISEASE_IDENTIFIER_ID 13892 GARD
DISEASE_IDENTIFIER_ID 13893 GARD
DISEASE_IDENTIFIER_ID 13894 GARD
DISEASE_IDENTIFIER_ID 33623 GARD
DISEASE_IDENTIFIER_ID 33624 GARD
DISEASE_IDENTIFIER_ID 33625 GARD
DX 20000101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D018991 MSH
GENELOCUS ,X,q,2,2, OMIM
GENESYMBOL HLD1 OMIM
GENESYMBOL PLP1 OMIM
GENESYMBOL PMD OMIM
GENESYMBOL SPG2 OMIM
HAS_GARD_PAGE true GARD
HN 2000; use CEREBRAL SCLEROSIS, DIFFUSE 1979-1999 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-01-08T00:00:00 GARD
MDA 19991104 MSH
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) NDFRT
MESH_DUI D020371 NDFRT
MESH_NAME Pelizaeus-Merzbacher Disease NDFRT
MESH_UI M0003895 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160226 MSH
MN C10.228.140.163.100.362.775 MSH
MN C10.228.140.695.625.775 MSH
MN C10.314.400.775 MSH
MN C16.320.322.906 MSH
MN C16.320.565.189.362.775 MSH
MN C18.452.132.100.362.775 MSH
MN C18.452.648.189.362.775 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MOVED_FROM 311601 OMIM
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000004128 NDFRT
PM 2000; see CEREBRAL SCLEROSIS, DIFFUSE 1979-1999 MSH
PRIMARY_PATH 10067610$10024579$10027424$10010331$Pelizaeus-Merzbacher disease$Lysosomal storage disorders$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/4265/pelizaeus-merzbacher-disease/resources/1 GARD
RXAUI 3218571 RXNORM
RXAUI 3218572 RXNORM
RXAUI 5039583 RXNORM
RXAUI 5932234 RXNORM
RXCUI 1025643 RXNORM
SMQ_TERM_ADDVERSION 10.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 64855000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E75.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E75.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E75.29 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.29 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F1002 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T000892486 MSH
TERMUI T000892487 MSH
TERMUI T007436 MSH
TERMUI T812088 MSH
TH GHR (2014) MSH
TH NLM (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0205711

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