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	pelizaeus merzbacher disease

Disease ID	1037
Disease	pelizaeus merzbacher disease
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)
Synonym	brain pelizaeus-merzbacher sclerosis brain sclerosis, pelizaeus-merzbacher hld1 leukodystrophy, hypomyelinating, 1 pelizaeus merzbacher brain sclerosis pelizaeus merzbacher dis pelizaeus merzbacher sclerosis, brain pelizaeus-merzbacher brain sclerosis pelizaeus-merzbacher disease pelizaeus-merzbacher disease (disorder) pelizaeus-merzbacher disease [disease/finding] pelizaeus-merzbacher sclerosis, brain pmd sudanophilic leukodystrophy
Orphanet	ORPHANET:702
OMIM	OMIM:312080 OMIM:601186
DOID	DOID:3210
UMLS	C0205711
MeSH	D020371
SNOMED-CT	SNOMEDCT_US_2016_09_01:64855000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0014038 \| encephalitis \| 1 C0086543 \| cataract \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 3329 \| HSPD1 \| UNIPROT 4001 \| LMNB1 \| CTD_human 5354 \| PLP1 \| CLINVAR;CTD_human;GHR;UNIPROT 6567 \| SLC16A2 \| UNIPROT 57165 \| GJC2 \| UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:82) 55811 \| ADCY10 \| 2.238 \| DISEASES 9255 \| AIMP1 \| 1.614 \| DISEASES 210 \| ALAD \| 2.287 \| DISEASES 10189 \| ALYREF \| 1.782 \| DISEASES 265 \| AMELX \| 1.12 \| DISEASES 91056 \| AP5B1 \| 1.311 \| DISEASES 415 \| ARSE \| 2.166 \| DISEASES 347527 \| ARSH \| 1.571 \| DISEASES 716 \| C1S \| 1.025 \| DISEASES 79823 \| CAMKMT \| 1.828 \| DISEASES 820 \| CAMP \| 1.767 \| DISEASES 1267 \| CNP \| 2.737 \| DISEASES 1287 \| COL4A5 \| 1.717 \| DISEASES 1486 \| CTBS \| 4.647 \| DISEASES 1586 \| CYP17A1 \| 1.197 \| DISEASES 1558 \| CYP2C8 \| 1.153 \| DISEASES 28514 \| DLL1 \| 1.4 \| DISEASES 1915 \| EEF1A1 \| 1.255 \| DISEASES 1936 \| EEF1D \| 2.361 \| DISEASES 30816 \| ERVW-1 \| 1.131 \| DISEASES 84668 \| FAM126A \| 3.001 \| DISEASES 2263 \| FGFR2 \| 1.022 \| DISEASES 5348 \| FXYD1 \| 1.291 \| DISEASES 85476 \| GFM1 \| 1.625 \| DISEASES 57165 \| GJC2 \| 5.662 \| DISEASES 441509 \| GLRA4 \| 3.615 \| DISEASES 2813 \| GP2 \| 1.193 \| DISEASES 160897 \| GPR180 \| 1.823 \| DISEASES 10767 \| HBS1L \| 1.728 \| DISEASES 3329 \| HSPD1 \| 1.131 \| DISEASES 3355 \| HTR1F \| 1.235 \| DISEASES 26280 \| IL1RAPL2 \| 2.815 \| DISEASES 9118 \| INA \| 1.782 \| DISEASES 3652 \| IPP \| 2.345 \| DISEASES 57582 \| KCNT1 \| 1.961 \| DISEASES 57528 \| KCTD16 \| 3.759 \| DISEASES 3897 \| L1CAM \| 1.249 \| DISEASES 4099 \| MAG \| 3.454 \| DISEASES 4155 \| MBP \| 2.93 \| DISEASES 114614 \| MIR155HG \| 1.186 \| DISEASES 9643 \| MORF4L2 \| 2.898 \| DISEASES 9612 \| NCOR2 \| 1.002 \| DISEASES 4842 \| NOS1 \| 1.315 \| DISEASES 2831 \| NPBWR1 \| 2.682 \| DISEASES 2832 \| NPBWR2 \| 3.017 \| DISEASES 283869 \| NPW \| 2.393 \| DISEASES 56001 \| NXF2 \| 2.423 \| DISEASES 728343 \| NXF2B \| 2.423 \| DISEASES 56000 \| NXF3 \| 3.058 \| DISEASES 55998 \| NXF5 \| 2.9 \| DISEASES 116448 \| OLIG1 \| 1.893 \| DISEASES 4958 \| OMD \| 1.513 \| DISEASES 103752588 \| PACERR \| 1.422 \| DISEASES 118425 \| PCAT4 \| 2.568 \| DISEASES 56034 \| PDGFC \| 1.438 \| DISEASES 9124 \| PDLIM1 \| 1.156 \| DISEASES 5830 \| PEX5 \| 2.003 \| DISEASES 26227 \| PHGDH \| 1.79 \| DISEASES 5901 \| RAN \| 2.462 \| DISEASES 6001 \| RGS10 \| 2.467 \| DISEASES 5999 \| RGS4 \| 1.49 \| DISEASES 286205 \| SCAI \| 1.6 \| DISEASES 8293 \| SERF1A \| 2.364 \| DISEASES 728492 \| SERF1B \| 2.387 \| DISEASES 26503 \| SLC17A5 \| 3.233 \| DISEASES 91137 \| SLC25A46 \| 1.642 \| DISEASES 83650 \| SLC35G5 \| 1.08 \| DISEASES 23013 \| SPEN \| 1.134 \| DISEASES 8801 \| SUCLG2 \| 2.307 \| DISEASES 9338 \| TCEAL1 \| 3.033 \| DISEASES 7046 \| TGFBR1 \| 1.428 \| DISEASES 7048 \| TGFBR2 \| 1.369 \| DISEASES 7072 \| TIA1 \| 2.116 \| DISEASES 1678 \| TIMM8A \| 1.402 \| DISEASES 10043 \| TOM1 \| 3.31 \| DISEASES 7178 \| TPT1 \| 1.114 \| DISEASES 7187 \| TRAF3 \| 1.049 \| DISEASES 7106 \| TSPAN4 \| 3.958 \| DISEASES 51366 \| UBR5 \| 1.183 \| DISEASES 9217 \| VAPB \| 2.578 \| DISEASES 7498 \| XDH \| 1.578 \| DISEASES 7753 \| ZNF202 \| 2.75 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1037
Disease	pelizaeus merzbacher disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0000639 \| Nystagmus HP:0001252 \| Hypotonia HP:0002415 \| Degeneration of white matter of brain
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0002383 \| Encephalitis \| 1 HP:0000518 \| Cataract \| 1 HP:0000519 \| Cataracts, lenticular, bilateral \| 1

Disease ID	1037
Disease	pelizaeus merzbacher disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
PLP1	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:14)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11543022	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103785621	C	G,T
rs132630278	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103788460	C	T
rs132630279	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103787831	T	C
rs132630280	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103787811	C	T
rs132630281	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103788469	G	T
rs132630282	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103787888	A	C
rs132630283	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103788485	T	C
rs132630284	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103787951	G	C
rs132630285	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103786493	G	A
rs132630286	7683951	5354	PLP1	umls:C0205711	BeFree	Direct sequencing of the PLP gene and PLP mRNAs from the brain of the PMD patient revealed a G to T transition in exon V of the PLP gene, which leads to a glycine to cysteine substitution at residue 220.	0.497082245	1993	PLP1;LOC101928286	X	103788475	G	T
rs132630289	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103785705	C	T
rs132630293	24521562	5354	PLP1	umls:C0205711	BeFree	Here, we demonstrate that an anti-malaria drug, chloroquine, decreases the amount of an ER-resident mutant PLP1 containing an alanine-243 to valine (A243V) substitution, which induces severe PMD in human.	0.497082245	2014	PLP1;LOC101928286	X	103789361	C	T
rs132630296	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103785746	G	T
rs797045064	NA	5354	PLP1	umls:C0205711	CLINVAR	NA	0.497082245	NA	PLP1;LOC101928286	X	103776996	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001252	Muscular hypotonia	MP:0004144	hypotonia	decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness

Mapped by homologous gene(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001252	Muscular hypotonia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000639	Nystagmus	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002415	Leukodystrophy	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	1037
Disease	pelizaeus merzbacher disease
Case	(Waiting for update.)

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