Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Pelizaeus-Merzbacher disease (DOID:3210)
Annotations: Rat: (4) Mouse: (4) Human: (4) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
Barth syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
combined oxidative phosphorylation deficiency 6  
congenital disorder of glycosylation Iy  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
Duchenne muscular dystrophy +   
ectodermal dysplasia 1 +   
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome  
glycogen storage disease IXa  
glycogen storage disease IXd  
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
hypogonadotropic hypogonadism 1 with or without anosmia  
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
Hypomyelinating Leukodystrophy 15  
Hypomyelinating Leukodystrophy 16  
Hypomyelinating Leukodystrophy 17  
Hypomyelinating Leukodystrophy 18  
Hypomyelinating Leukodystrophy 19  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 6  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Kennedy's disease  
Lesch-Nyhan syndrome +   
MASA syndrome  
megalocornea +   
MEHMO syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Norrie disease  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Ogden syndrome  
Partington syndrome  
Pelizaeus-Merzbacher disease +   
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)
phosphoribosylpyrophosphate synthetase superactivity  
Prieto syndrome 
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
spondyloepiphyseal dysplasia tarda +   
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked cone-rod dystrophy 3  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked hyper IgM syndrome  
X-linked ichthyosis +   
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked juvenile retinoschisis 1  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked myopathy with excessive autophagy  
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
X-linked recessive hypophosphatemic rickets  
X-Linked Recessive Nephrolithiasis with Renal Failure  
X-linked severe combined immunodeficiency  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  

Synonyms
Exact Synonyms: Brain Pelizaeus-Merzbacher Sclerosis ;   Classic Pelizaeus Merzbacher Disease ;   Cockayne Pelizaeus Merzbacher Disease ;   HLD1 ;   LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT ;   Leukodystrophy, Hypomyelinating, 1 ;   Leukodystrophy, sudanophilic ;   PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE ;   PMD ;   adult Pelizaeus Merzbacher disease ;   atypical Pelizaeus Merzbacher disease ;   diffuse familial brain sclerosis ;   sudanophilic leukodystrophy, Paelizeus-Merzbacher type ;   transitional Pelizaeus Merzbacher disease
Narrow Synonyms: PELIZAEUS-MERZBACHER DISEASE, CONNATAL ;   Pelizaeus-Merzbacher disease, mild
Primary IDs: MESH:D020371
Alternate IDs: OMIA:000770 ;   OMIM:312080
Xrefs: GARD:4265 ;   NCI:C75487 ;   ORDO:702
Definition Sources: MESH:D020371, https://www.ncbi.nlm.nih.gov/pubmed/15627202, https://www.ncbi.nlm.nih.gov/pubmed/2773936, https://www.ncbi.nlm.nih.gov/pubmed/3476455

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.