Disease #02259

Official abbreviation PMD;HLD-1
Name Pelizaeus-Merzbacher disease (PMD, hypomyelinative leukodystrophy (HLD-1))
OMIM ID 312080
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 76
Phenotype entries for this disease 76
Associated with 1 gene PLP1
Associated tissues -
Disease features X-linked recessive
Remarks -


Individuals

76 entries on 1 page. Showing entries 1 - 76.
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00092268 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - 0 - - PMD;HLD-1 severe IDD, progressive spasticity, nystagmus, ataxia, Perlizaeus- Merzbacher, severe hypomyelination of early myelinating structures (HEMS); leukodystrophy PLP1 - 0 1 Johan den Dunnen
00117958 - PubMed: Taube 2014 2-generation family, 3 affected males, 3 unaffected heterozygous carrier females M no United States - - 0 - - PMD;HLD-1 mild classical PMD PLP1 PLP1 1 3 Grace Hobson
00117959 - PubMed: Taube 2014 4-generation family, 2 affecteds, 2 unaffected heterozygous female carriers M - Philippines - - 0 - - PMD;HLD-1 mild classical PMD phenotype PLP1 PLP1 1 2 Grace Hobson
00117960 - PubMed: Taube 2014 5-generation family, 7 affected males M no Czech Republic - - 0 - - PMD;HLD-1 mild classical PMD PLP1 PLP1 1 7 Grace Hobson
00180274 23347225-PatPM-43 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 - M - Spain caucasian >20y 0 no no PMD;HLD-1 - PLP1 PLP1 1 1 Jesus Molano Mateos
00180300 01384324-Fam1 PubMed: Strautnieks 1992 3-generation family, 2 affecteds (2M), 2 healthy carrier females M no United Kingdom (Great Britain) - - 0 - - PMD;HLD-1 brother (II2) and nephew (III1) died of PMD PLP1 PLP1 1 1 Johan den Dunnen
00180301 01384324-Fam2 PubMed: Strautnieks 1992 2-generation family, affected brothers, healthy carrier mother M no United Kingdom (Great Britain) - - 0 - - PMD;HLD-1 - PLP1 PLP1 1 2 Johan den Dunnen
00180302 23347225-PatPM-4 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - 3y 0 - - PMD;HLD-1 3y-deceased; severe connatal Pelizaeus-Merzbacher disease PLP1 PLP1 3 1 Jesus Molano Mateos
00180303 23347225-PatPM-25 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 3 1 Jesus Molano Mateos
00180304 23347225-PatPM-53 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 5 1 Jesus Molano Mateos
00180305 23347225-PatPM-57 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 non-carrier mother M - Spain - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Jesus Molano Mateos
00180306 23347225-PatPM-67 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 2 1 Jesus Molano Mateos
00180307 23347225-PatPM-68 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 2 1 Jesus Molano Mateos
00180308 23347225-PatPM-101 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 severe connatal Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Jesus Molano Mateos
00180309 23347225-PatPM-154 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Jesus Molano Mateos
00180310 23347225-PatPM-28 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 severe connatal Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Jesus Molano Mateos
00180311 23347225-PatPM-39 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 non-carrier mother M - Spain - - 0 - - PMD;HLD-1 complicated spastic paraplegia PLP1 PLP1 1 1 Jesus Molano Mateos
00180312 23347225-PatPM-71 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Jesus Molano Mateos
00180313 23347225-PatPM-83 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 mother not tested M - Spain - 12y 0 - - PMD;HLD-1 12y-deceased; severe connatal Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Jesus Molano Mateos
00180314 23347225-PatPM-103 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 PLP null syndrome PLP1 PLP1 1 1 Jesus Molano Mateos
00180315 23347225-PatPM-106 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 severe connatal Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Jesus Molano Mateos
00180316 23347225-PatPM-121 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 mother not tested M - Spain - - 0 - - PMD;HLD-1 PLP null syndrome PLP1 PLP1 1 1 Jesus Molano Mateos
00180317 23347225-PatPM-133 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 severe connatal Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Jesus Molano Mateos
00180318 23347225-PatPM-159 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 severe connatal Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Jesus Molano Mateos
00180319 23347225-PatPM-81 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 mother not tested M - Greece - 13y 0 - - PMD;HLD-1 13y-deceased; complicated spastic paraplegia PLP1 PLP1 1 1 Jesus Molano Mateos
00180320 23347225-PatPM-119 PubMed: Martínez-Montero 2013, Journal: Martínez-Montero 2013 carrier mother M - Spain - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Jesus Molano Mateos
00180321 15712223-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180322 15712224-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180323 15712225-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe connatal Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180324 15712226-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe connatal Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180325 15712227-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180326 15712228-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180327 15712229-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180328 15712230-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180329 15712231-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 mild Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180330 15712232-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180331 15712233-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180332 15712234-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180333 15712235-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180334 15712236-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 mild Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180335 15712237-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 mild Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180336 15712238-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180337 15712239-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180338 15712240-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180339 15712241-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180340 15712242-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180341 15712243-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180342 15712244-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180343 15712245-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180344 15712246-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 Pelizaeus-Merzbacher disease - - 0 1 Johan den Dunnen
00180345 15712223-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180346 15712224-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180347 15712225-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180348 15712226-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180349 15712227-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 severe Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180350 15712228-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180351 15712229-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180352 15712230-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1 PLP1 1 1 Johan den Dunnen
00180353 15712231-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant PLP1 PLP1 1 1 Johan den Dunnen
00180354 15712232-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant PLP1 PLP1 1 1 Johan den Dunnen
00180355 15712233-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant PLP1 PLP1 1 1 Johan den Dunnen
00180356 15712234-Pat? PubMed: Hübner 2005 - M - Germany - - 0 - - PMD;HLD-1 mild Pelizaeus-Merzbacher disease, no nystagmus, ambulant PLP1 PLP1 1 1 Johan den Dunnen
00180357 15712223-Pat? PubMed: Hübner 2005 2-generation family, 1 affected (M), healthy non-carrier mother M - Germany - - 0 - - PMD;HLD-1 classic Pelizaeus-Merzbacher disease PLP1, RAB9B PLP1, RAB9B 1 1 Johan den Dunnen
00180358 15712223-Pat? PubMed: Hübner 2005 2-generation family, 2 affected brothers M no Germany - - 0 - - PMD;HLD-1 severely handicapped, disease onset shortly after birth PLP1, RAB9B PLP1, RAB9B 1 2 Johan den Dunnen
00180359 07573159-PatIV PubMed: Pratt 1995 4-generation family, 2 affecteds (2M), 2 unaffected carrier females M - United States - - 0 - - PMD;HLD-1 nystagmus from birth; 1m-respiratory difficulty, tracheomalacia, brain stem auditory evoked response showed extremely slow conduction velocity with only waves 1 and 2 present bilaterally; 13m-MRI scan was extremely abnormal with poor myelination white matter, EMG showed no involvement peripheral nervous system; 4y-not able to sit, speak, feed himself. PLP1 PLP1 1 2 Johan den Dunnen
00180360 07573159-PatIII2 PubMed: Pratt 1995 uncle M - United States - 23y 0 - - PMD;HLD-1 inspiratory stridor, failure to thrive, nystagmus, spasticity, joint contractures, scoliosis; 21y-head CT scan showed severe atrophy with demyelination; died at 23y autopsy showed marked cerebellar atrophy, microscopic brain sections showed absence of myelin with preservation of axons diffusely within the white matter: PLP1 PLP1 1 1 Johan den Dunnen
00180362 19328639-Pat1 PubMed: Shimojima 2010 - M - Japan - >14y 0 - - PMD;HLD-1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; tremor; auditory brain response only I-III waves; MRI delayed myelination PLP1 PLP1 1 1 Johan den Dunnen
00180363 19328639-Pat2 PubMed: Shimojima 2010 - M - Japan - >14y 0 - - PMD;HLD-1 severity score 2; 7m-head control; 4y-sitting; 4y-walking; nystagmus; no muscular hypotonia; pyramidal signs; ataxia; dysarthria; disease deteriorating, now only sitting; auditory brain response only I-III waves; MRI incomplete myelination PLP1 PLP1 1 1 Johan den Dunnen
00180364 19328639-Pat3 PubMed: Shimojima 2010 - M - Japan - >33y 0 - - PMD;HLD-1 severity score 0; no head control; not sitting; not walking; no nystagmus; muscular hypotonia; pyramidal signs PLP1 PLP1 1 1 Johan den Dunnen
00180365 19328639-Pat4 PubMed: Shimojima 2010 - M - Japan - 4y 0 - - PMD;HLD-1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; seizures; choreoathetosis; auditory brain response only I wave; MRI hypomyelination PLP1 PLP1 1 1 Johan den Dunnen
00180366 19328639-Pat5 PubMed: Shimojima 2010 - M - Japan - >2y 0 - - PMD;HLD-1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; pyramidal signs; auditory brain response only I wave; MRI hypomyelination PLP1 PLP1 1 1 Johan den Dunnen
00180367 19328639-Pat6 PubMed: Shimojima 2010 - M - Japan - >2y 0 - - PMD;HLD-1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia (upper limbs); pyramidal signs (lower limbs); auditory brain response only I wave; MRI delayed myelination PLP1 PLP1 1 1 Johan den Dunnen
00180368 19328639-Pat7 PubMed: Shimojima 2010 - M - Japan - >1y 0 - - PMD;HLD-1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; strider; auditory brain response only I-III waves; MRI delayed myelination PLP1 PLP1 1 1 Johan den Dunnen
00180369 19328639-Pat8 PubMed: Shimojima 2010 - M - Japan - >4y 0 - - PMD;HLD-1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; seizures; auditory brain response only I wave; MRI delayed myelination PLP1 PLP1 1 1 Johan den Dunnen
00180370 19328639-Pat9 PubMed: Shimojima 2010 - M - Japan - >5m 0 - - PMD;HLD-1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; no pyramidal signs; seizures; microcephaly; auditory brain response only I wave; MRI delayed myelination PLP1 PLP1 1 1 Johan den Dunnen
00180371 19328639-Pat10 PubMed: Shimojima 2010 - M - Japan - >1y5m 0 - - PMD;HLD-1 severity score 0; no head control; not sitting; not walking; nystagmus; muscular hypotonia; sensori-neural seizures; auditory brain response only I-II waves; MRI hypomyelination PLP1 PLP1 1 1 Johan den Dunnen
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