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	leukodystrophy

Disease ID	976
Disease	leukodystrophy
Definition	group of diseases affecting the white matter of the brain, especially the cerebral hemispheres, due to defects in the formation and maintenance of myelin in infants and children.
Synonym	degeneration of white matter of brain leucodystrophies leucodystrophy leucodystrophy (disorder) leucodystrophy nos leucodystrophy nos (disorder) leukodystrophies leukodystrophy (disorder) leukodystrophy nos leukodystrophy, nos
Orphanet	ORPHANET:68356
DOID	DOID:10579
UMLS	C0023520
SNOMED-CT	SNOMEDCT_US_2016_09_01:192781003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C1838979 \| mitochondrial complex i deficiency \| 1 C0338473 \| neuroaxonal dystrophy \| 1 C0085215 \| premature ovarian failure \| 1 C0270850 \| idiopathic generalized epilepsy \| 1 C0152025 \| polyneuropathy \| 1 C0155765 \| microangiopathy \| 1 C0014544 \| epilepsy \| 1 C0004134 \| ataxia \| 1 C0007760 \| cerebellar dysfunction \| 1 C0677607 \| hashimoto thyroiditis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:28) 3329 \| HSPD1 \| UniProtKB-KW 4001 \| LMNB1 \| UniProtKB-KW 2670 \| GFAP \| UniProtKB-KW;GHR 215 \| ABCD1 \| GHR 410 \| ARSA \| UniProtKB-KW 4854 \| NOTCH3 \| GHR 11128 \| POLR3A \| UniProtKB-KW 10382 \| TUBB4A \| UniProtKB-KW 8890 \| EIF2B4 \| UniProtKB-KW 5354 \| PLP1 \| UniProtKB-KW;GHR 79152 \| FA2H \| UniProtKB-KW 5660 \| PSAP \| UniProtKB-KW 64857 \| PLEKHG2 \| UniProtKB-KW 285362 \| SUMF1 \| UniProtKB-KW 84668 \| FAM126A \| UniProtKB-KW 411 \| ARSB \| UniProtKB-KW 8891 \| EIF2B3 \| UniProtKB-KW 1967 \| EIF2B1 \| UniProtKB-KW 5917 \| RARS \| UniProtKB-KW 57165 \| GJC2 \| UniProtKB-KW 9533 \| POLR1C \| UniProtKB-KW 2581 \| GALC \| UniProtKB-KW 9255 \| AIMP1 \| UniProtKB-KW 8892 \| EIF2B2 \| UniProtKB-KW 55703 \| POLR3B \| UniProtKB-KW 8893 \| EIF2B5 \| UniProtKB-KW 443 \| ASPA \| UniProtKB-KW;GHR 29920 \| PYCR2 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 2824 \| GPM6B \| CIPHER 5354 \| PLP1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:194) 5825 \| ABCD3 \| 5.545 \| DISEASES 5826 \| ABCD4 \| 4.939 \| DISEASES 26090 \| ABHD12 \| 1.088 \| DISEASES 91452 \| ACBD5 \| 1.978 \| DISEASES 55331 \| ACER3 \| 1.283 \| DISEASES 26027 \| ACOT11 \| 1.084 \| DISEASES 55811 \| ADCY10 \| 1.161 \| DISEASES 375790 \| AGRN \| 1.521 \| DISEASES 23287 \| AGTPBP1 \| 1.818 \| DISEASES 9255 \| AIMP1 \| 1.539 \| DISEASES 210 \| ALAD \| 1.769 \| DISEASES 224 \| ALDH3A2 \| 1.289 \| DISEASES 226 \| ALDOA \| 2.218 \| DISEASES 336 \| APOA2 \| 1.432 \| DISEASES 84334 \| APOPT1 \| 2.346 \| DISEASES 414 \| ARSD \| 1.086 \| DISEASES 415 \| ARSE \| 1.089 \| DISEASES 468 \| ATF4 \| 2.127 \| DISEASES 57194 \| ATP10A \| 1.192 \| DISEASES 477 \| ATP1A2 \| 1.603 \| DISEASES 10134 \| BCAP31 \| 2.971 \| DISEASES 617 \| BCS1L \| 1.342 \| DISEASES 622 \| BDH1 \| 1.393 \| DISEASES 631 \| BFSP1 \| 1.081 \| DISEASES 388962 \| BOLA3 \| 3.084 \| DISEASES 676 \| BRDT \| 1.029 \| DISEASES 7809 \| BSND \| 1.407 \| DISEASES 773 \| CACNA1A \| 1.891 \| DISEASES 10390 \| CEPT1 \| 1.84 \| DISEASES 9023 \| CH25H \| 1.155 \| DISEASES 1183 \| CLCN4 \| 2.058 \| DISEASES 1267 \| CNP \| 2.219 \| DISEASES 22796 \| COG2 \| 1.855 \| DISEASES 1282 \| COL4A1 \| 3.401 \| DISEASES 1431 \| CS \| 1.115 \| DISEASES 8530 \| CST7 \| 1.396 \| DISEASES 1486 \| CTBS \| 3.57 \| DISEASES 1555 \| CYP2B6 \| 1.231 \| DISEASES 117154 \| DACH2 \| 1.777 \| DISEASES 55157 \| DARS2 \| 2.771 \| DISEASES 27042 \| DIEXF \| 2.908 \| DISEASES 1910 \| EDNRB \| 1.967 \| DISEASES 1915 \| EEF1A1 \| 1.665 \| DISEASES 1936 \| EEF1D \| 1.283 \| DISEASES 1967 \| EIF2B1 \| 5.051 \| DISEASES 8891 \| EIF2B3 \| 4.254 \| DISEASES 8890 \| EIF2B4 \| 4.333 \| DISEASES 64834 \| ELOVL1 \| 4.782 \| DISEASES 2053 \| EPHX2 \| 2.611 \| DISEASES 2109 \| ETFB \| 1.402 \| DISEASES 84668 \| FAM126A \| 3.53 \| DISEASES 2195 \| FAT1 \| 1.081 \| DISEASES 2200 \| FBN1 \| 1.292 \| DISEASES 2224 \| FDPS \| 1.357 \| DISEASES 2524 \| FUT2 \| 2.026 \| DISEASES 2556 \| GABRA3 \| 1.161 \| DISEASES 2632 \| GBE1 \| 2.498 \| DISEASES 85476 \| GFM1 \| 1.55 \| DISEASES 2705 \| GJB1 \| 2.58 \| DISEASES 57165 \| GJC2 \| 5.241 \| DISEASES 349149 \| GJC3 \| 1.436 \| DISEASES 152007 \| GLIPR2 \| 1.807 \| DISEASES 11146 \| GLMN \| 1.15 \| DISEASES 441509 \| GLRA4 \| 2.538 \| DISEASES 51218 \| GLRX5 \| 1.023 \| DISEASES 8443 \| GNPAT \| 2.325 \| DISEASES 391723 \| HELT \| 1.395 \| DISEASES 84667 \| HES7 \| 1.279 \| DISEASES 23462 \| HEY1 \| 1.04 \| DISEASES 3142 \| HLX \| 1.004 \| DISEASES 3157 \| HMGCS1 \| 1.072 \| DISEASES 3295 \| HSD17B4 \| 3.893 \| DISEASES 3316 \| HSPB2 \| 3.098 \| DISEASES 3329 \| HSPD1 \| 1.86 \| DISEASES 5654 \| HTRA1 \| 4.937 \| DISEASES 3064 \| HTT \| 1.043 \| DISEASES 200205 \| IBA57 \| 3.15 \| DISEASES 26280 \| IL1RAPL2 \| 1.738 \| DISEASES 3619 \| INCENP \| 1.159 \| DISEASES 3652 \| IPP \| 1.267 \| DISEASES 81689 \| ISCA1 \| 1.72 \| DISEASES 122961 \| ISCA2 \| 3.085 \| DISEASES 3714 \| JAG2 \| 1.594 \| DISEASES 3766 \| KCNJ10 \| 1.542 \| DISEASES 57528 \| KCTD16 \| 2.681 \| DISEASES 3908 \| LAMA2 \| 2.485 \| DISEASES 3988 \| LIPA \| 1.021 \| DISEASES 4000 \| LMNA \| 1.903 \| DISEASES 84823 \| LMNB2 \| 1.043 \| DISEASES 4018 \| LPA \| 1.723 \| DISEASES 4099 \| MAG \| 3.053 \| DISEASES 4155 \| MBP \| 3.08 \| DISEASES 64087 \| MCCC2 \| 1.542 \| DISEASES 145873 \| MESP2 \| 2.549 \| DISEASES 4340 \| MOG \| 1.164 \| DISEASES 9643 \| MORF4L2 \| 1.821 \| DISEASES 22921 \| MSRB2 \| 1.328 \| DISEASES 4540 \| MT-ND5 \| 1.077 \| DISEASES 4553 \| MT-TA \| 1.422 \| DISEASES 339983 \| NAT8L \| 3.246 \| DISEASES 4719 \| NDUFS1 \| 1.157 \| DISEASES 4723 \| NDUFV1 \| 2.614 \| DISEASES 27247 \| NFU1 \| 2.73 \| DISEASES 4855 \| NOTCH4 \| 7.748 \| DISEASES 2831 \| NPBWR1 \| 1.605 \| DISEASES 2832 \| NPBWR2 \| 1.939 \| DISEASES 4878 \| NPPA \| 1.619 \| DISEASES 283869 \| NPW \| 1.316 \| DISEASES 190 \| NR0B1 \| 1.532 \| DISEASES 4306 \| NR3C2 \| 1.928 \| DISEASES 3164 \| NR4A1 \| 1.202 \| DISEASES 4905 \| NSF \| 2.073 \| DISEASES 56001 \| NXF2 \| 1.346 \| DISEASES 728343 \| NXF2B \| 1.346 \| DISEASES 56000 \| NXF3 \| 1.981 \| DISEASES 55998 \| NXF5 \| 1.822 \| DISEASES 10215 \| OLIG2 \| 1.429 \| DISEASES 118425 \| PCAT4 \| 1.491 \| DISEASES 27445 \| PCLO \| 2.3 \| DISEASES 5144 \| PDE4D \| 2.079 \| DISEASES 5195 \| PEX14 \| 2.791 \| DISEASES 5824 \| PEX19 \| 1.378 \| DISEASES 5828 \| PEX2 \| 1.928 \| DISEASES 55670 \| PEX26 \| 1.646 \| DISEASES 8504 \| PEX3 \| 2.294 \| DISEASES 5830 \| PEX5 \| 5.552 \| DISEASES 5251 \| PHEX \| 1.704 \| DISEASES 8605 \| PLA2G4C \| 1.496 \| DISEASES 5339 \| PLEC \| 2.167 \| DISEASES 51177 \| PLEKHO1 \| 1.426 \| DISEASES 5365 \| PLXNB3 \| 2.599 \| DISEASES 10957 \| PNRC1 \| 1.17 \| DISEASES 23509 \| POFUT1 \| 2.032 \| DISEASES 5424 \| POLD1 \| 3.847 \| DISEASES 11128 \| POLR3A \| 4.689 \| DISEASES 5530 \| PPP3CA \| 1.748 \| DISEASES 5663 \| PSEN1 \| 1.024 \| DISEASES 5725 \| PTBP1 \| 1.172 \| DISEASES 29920 \| PYCR2 \| 3.041 \| DISEASES 5901 \| RAN \| 1.385 \| DISEASES 55225 \| RAVER2 \| 2.457 \| DISEASES 23543 \| RBFOX2 \| 1.031 \| DISEASES 3516 \| RBPJ \| 2.893 \| DISEASES 117584 \| RFFL \| 1.981 \| DISEASES 6001 \| RGS10 \| 1.39 \| DISEASES 8635 \| RNASET2 \| 1.39 \| DISEASES 51097 \| SCCPDH \| 2.149 \| DISEASES 6342 \| SCP2 \| 2.58 \| DISEASES 644096 \| SDHAF1 \| 2.472 \| DISEASES 6391 \| SDHC \| 1.081 \| DISEASES 8293 \| SERF1A \| 1.287 \| DISEASES 728492 \| SERF1B \| 1.31 \| DISEASES 57515 \| SERINC1 \| 1.537 \| DISEASES 26503 \| SLC17A5 \| 2.6 \| DISEASES 10478 \| SLC25A17 \| 5.893 \| DISEASES 788 \| SLC25A20 \| 1.424 \| DISEASES 6622 \| SNCA \| 1.549 \| DISEASES 6646 \| SOAT1 \| 1.646 \| DISEASES 6663 \| SOX10 \| 3.286 \| DISEASES 26576 \| SRPK3 \| 2.143 \| DISEASES 8677 \| STX10 \| 2.536 \| DISEASES 6809 \| STX3 \| 1.367 \| DISEASES 8417 \| STX7 \| 2.638 \| DISEASES 6812 \| STXBP1 \| 2.044 \| DISEASES 8801 \| SUCLG2 \| 1.229 \| DISEASES 25870 \| SUMF2 \| 2.328 \| DISEASES 6834 \| SURF1 \| 2.793 \| DISEASES 23336 \| SYNM \| 1.305 \| DISEASES 80222 \| TARS2 \| 1.253 \| DISEASES 123283 \| TARSL2 \| 1.29 \| DISEASES 9338 \| TCEAL1 \| 1.955 \| DISEASES 7018 \| TF \| 1.135 \| DISEASES 7072 \| TIA1 \| 1.039 \| DISEASES 7124 \| TNF \| 1.276 \| DISEASES 25816 \| TNFAIP8 \| 1.009 \| DISEASES 10043 \| TOM1 \| 2.233 \| DISEASES 60684 \| TRAPPC11 \| 1.504 \| DISEASES 11277 \| TREX1 \| 4.731 \| DISEASES 55621 \| TRMT1 \| 1.657 \| DISEASES 25987 \| TSKU \| 1.173 \| DISEASES 7106 \| TSPAN4 \| 2.88 \| DISEASES 51807 \| TUBA8 \| 2.002 \| DISEASES 7284 \| TUFM \| 1.38 \| DISEASES 51060 \| TXNDC12 \| 2.447 \| DISEASES 10497 \| UNC13B \| 2.07 \| DISEASES 9217 \| VAPB \| 1.501 \| DISEASES 64601 \| VPS16 \| 2.705 \| DISEASES 6293 \| VPS52 \| 1.365 \| DISEASES 55275 \| VPS53 \| 2.649 \| DISEASES 143187 \| VTI1A \| 1.634 \| DISEASES 10490 \| VTI1B \| 2.92 \| DISEASES 11152 \| WDR45 \| 1.867 \| DISEASES 7503 \| XIST \| 1.273 \| DISEASES 7753 \| ZNF202 \| 1.673 \| DISEASES
Locus	(Waiting for update.)

Disease ID	976
Disease	leukodystrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:23) HP:0002120 \| Cerebral cortical atrophy \| 2 HP:0000164 \| Abnormality of the teeth \| 1 HP:0002313 \| Spastic paraparesis \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0001355 \| Macrencephaly \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0000256 \| Macrocrania \| 1 HP:0001250 \| Seizures \| 1 HP:0000803 \| Cortical cysts \| 1 HP:0000668 \| Failure of development of between one and six teeth \| 1 HP:0001249 \| Mental retardation \| 1 HP:0007109 \| Periventricular cysts \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0002350 \| Cerebellar cyst \| 1 HP:0001270 \| Motor retardation \| 1 HP:0001251 \| Ataxia \| 1 HP:0002385 \| Paraparesis \| 1 HP:0001271 \| Polyneuropathy \| 1 HP:0008209 \| Premature ovarian failure \| 1 HP:0000677 \| Failure of development of more than six teeth \| 1 HP:0001337 \| Tremor \| 1

Disease ID	976
Disease	leukodystrophy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0027765 \| neurological disorders
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs151266052	22972948	6389	SDHA	umls:C0023520	BeFree	Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation.	0.000542884	2012	SDHA	5	240448	C	T
rs202101384	22972948	6389	SDHA	umls:C0023520	BeFree	Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation.	0.000542884	2012	SDHB	1	17044818	T	A
rs397514541	22972948	6389	SDHA	umls:C0023520	BeFree	Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation.	0.000542884	2012	SDHA	5	240451	C	T

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

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	976
Disease	leukodystrophy
Case	(Waiting for update.)

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