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	ceroid storage disease

Disease ID	862
Disease	ceroid storage disease
Definition	inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin.
Synonym	cerebromacular degeneration cerebromacular dystrophy ceroid lipofuscinoses neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal ceroid storage diseases ceroid-lipofuscinosis, neuronal disease, ceroid storage disease, lipofuscin storage diseases, ceroid storage diseases, lipofuscin storage hereditary ceroid lipofuscinosis lipofuscin storage disease lipofuscin storage diseases lipofuscinosis, neuronal ceroid neuronal ceroid lipofuscinoses neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis (disorder) neuronal ceroid-lipofuscinoses neuronal ceroid-lipofuscinoses [disease/finding] neuronal ceroid-lipofuscinosis pigmentary retinal lipoid neuronal heredodegeneration storage disease, ceroid storage disease, lipofuscin storage diseases, ceroid storage diseases, lipofuscin
Orphanet	ORPHANET:216
OMIM	OMIM:214200
DOID	DOID:14503
ICD10	ICD10CM:E75.4
UMLS	C0027877
MeSH	D009472
SNOMED-CT	SNOMEDCT_US_2016_09_01:42012007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0878544 \| cardiomyopathy \| 2 C0007194 \| hypertrophic cardiomyopathy \| 2 C0004134 \| ataxia \| 1 C0014544 \| epilepsy \| 1 C0035309 \| retinopathy \| 1 C0456909 \| vision loss \| 1 C0751783 \| lafora disease \| 1 C0035229 \| respiratory insufficiency \| 1 C0497327 \| dementia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 1200 \| TPP1 \| CTD_human;UniProtKB-KW;UNIPROT 2896 \| GRN \| UniProtKB-KW 2055 \| CLN8 \| UniProtKB-KW;UNIPROT 1509 \| CTSD \| UniProtKB-KW;UNIPROT 1201 \| CLN3 \| CTD_human;UniProtKB-KW;UNIPROT 54982 \| CLN6 \| CTD_human;UniProtKB-KW;UNIPROT 1203 \| CLN5 \| UniProtKB-KW;UNIPROT 80331 \| DNAJC5 \| UniProtKB-KW 23400 \| ATP13A2 \| CTD_human;UniProtKB-KW 256471 \| MFSD8 \| UniProtKB-KW;UNIPROT 5538 \| PPT1 \| UniProtKB-KW;UNIPROT 154881 \| KCTD7 \| UniProtKB-KW 8722 \| CTSF \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 1201 \| CLN3 \| CIPHER;CTD_human 1203 \| CLN5 \| CIPHER 54982 \| CLN6 \| CIPHER;CTD_human 2055 \| CLN8 \| CIPHER 5538 \| PPT1 \| CIPHER 1200 \| TPP1 \| CIPHER;CTD_human 23400 \| ATP13A2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:136) 51529 \| ANAPC11 \| 2.386 \| DISEASES 57584 \| ARHGAP21 \| 2.304 \| DISEASES 22901 \| ARSG \| 3.678 \| DISEASES 9070 \| ASH2L \| 1.453 \| DISEASES 23400 \| ATP13A2 \| 4.269 \| DISEASES 516 \| ATP5G1 \| 3.145 \| DISEASES 517 \| ATP5G2 \| 3.122 \| DISEASES 545 \| ATR \| 1.998 \| DISEASES 664 \| BNIP3 \| 1.077 \| DISEASES 9184 \| BUB3 \| 1.396 \| DISEASES 83636 \| C19orf12 \| 2.19 \| DISEASES 774 \| CACNA1B \| 1.048 \| DISEASES 815 \| CAMK2A \| 1.288 \| DISEASES 825 \| CAPN3 \| 2.654 \| DISEASES 388743 \| CAPN8 \| 4.725 \| DISEASES 100506742 \| CASP12 \| 1.63 \| DISEASES 892 \| CCNC \| 1.199 \| DISEASES 8812 \| CCNK \| 1.834 \| DISEASES 8556 \| CDC14A \| 2.618 \| DISEASES 8881 \| CDC16 \| 1.484 \| DISEASES 8697 \| CDC23 \| 1.92 \| DISEASES 996 \| CDC27 \| 1.326 \| DISEASES 8318 \| CDC45 \| 1.37 \| DISEASES 983 \| CDK1 \| 3.152 \| DISEASES 10715 \| CERS1 \| 2.447 \| DISEASES 91012 \| CERS5 \| 2.051 \| DISEASES 11200 \| CHEK2 \| 1.415 \| DISEASES 5119 \| CHMP1A \| 2.144 \| DISEASES 1186 \| CLCN7 \| 2.231 \| DISEASES 1201 \| CLN3 \| 8.068 \| DISEASES 1203 \| CLN5 \| 7.274 \| DISEASES 2055 \| CLN8 \| 6.783 \| DISEASES 1298 \| COL9A2 \| 1.094 \| DISEASES 1400 \| CRMP1 \| 1.189 \| DISEASES 9646 \| CTR9 \| 2.093 \| DISEASES 5476 \| CTSA \| 1.947 \| DISEASES 1508 \| CTSB \| 1.487 \| DISEASES 1520 \| CTSS \| 2.352 \| DISEASES 9267 \| CYTH1 \| 1.801 \| DISEASES 80067 \| DCAF17 \| 1.375 \| DISEASES 9228 \| DLGAP2 \| 1.944 \| DISEASES 80331 \| DNAJC5 \| 6.007 \| DISEASES 9829 \| DNAJC6 \| 1.464 \| DISEASES 57171 \| DOLPP1 \| 3.466 \| DISEASES 1798 \| DPAGT1 \| 1.324 \| DISEASES 7957 \| EPM2A \| 1.266 \| DISEASES 54097 \| FAM3B \| 1.364 \| DISEASES 84188 \| FAR1 \| 3.085 \| DISEASES 2313 \| FLI1 \| 3.415 \| DISEASES 2512 \| FTL \| 2.049 \| DISEASES 2596 \| GAP43 \| 1.614 \| DISEASES 2959 \| GTF2B \| 1.044 \| DISEASES 3005 \| H1F0 \| 2.036 \| DISEASES 3065 \| HDAC1 \| 2.018 \| DISEASES 3066 \| HDAC2 \| 2.081 \| DISEASES 55869 \| HDAC8 \| 2.818 \| DISEASES 8359 \| HIST1H4A \| 1.06 \| DISEASES 8366 \| HIST1H4B \| 1.06 \| DISEASES 8364 \| HIST1H4C \| 1.06 \| DISEASES 8360 \| HIST1H4D \| 1.059 \| DISEASES 8367 \| HIST1H4E \| 1.06 \| DISEASES 8361 \| HIST1H4F \| 1.06 \| DISEASES 8294 \| HIST1H4I \| 1.06 \| DISEASES 8363 \| HIST1H4J \| 1.06 \| DISEASES 8362 \| HIST1H4K \| 1.06 \| DISEASES 8368 \| HIST1H4L \| 1.06 \| DISEASES 8370 \| HIST2H4A \| 1.06 \| DISEASES 554313 \| HIST2H4B \| 1.06 \| DISEASES 121504 \| HIST4H4 \| 1.06 \| DISEASES 81502 \| HM13 \| 1.114 \| DISEASES 51361 \| HOOK1 \| 3.585 \| DISEASES 3240 \| HP \| 1.275 \| DISEASES 3423 \| IDS \| 1.346 \| DISEASES 3482 \| IGF2R \| 2.077 \| DISEASES 154881 \| KCTD7 \| 4.838 \| DISEASES 3831 \| KLC1 \| 1.031 \| DISEASES 3916 \| LAMP1 \| 3.172 \| DISEASES 3920 \| LAMP2 \| 1.638 \| DISEASES 131578 \| LRRC15 \| 2.545 \| DISEASES 219972 \| MPEG1 \| 2.311 \| DISEASES 22823 \| MTF2 \| 1.916 \| DISEASES 4566 \| MT-TK \| 2.328 \| DISEASES 4077 \| NBR1 \| 1.489 \| DISEASES 57486 \| NLN \| 1.495 \| DISEASES 4828 \| NMB \| 2 \| DISEASES 55666 \| NPLOC4 \| 1.859 \| DISEASES 4878 \| NPPA \| 1.641 \| DISEASES 594857 \| NPS \| 1.182 \| DISEASES 5238 \| PGM3 \| 1.061 \| DISEASES 9600 \| PITPNM1 \| 1.185 \| DISEASES 8398 \| PLA2G6 \| 1.821 \| DISEASES 5464 \| PPA1 \| 1.22 \| DISEASES 5538 \| PPT1 \| 7.577 \| DISEASES 9374 \| PPT2 \| 3.561 \| DISEASES 54896 \| PQLC2 \| 2.949 \| DISEASES 768206 \| PRCD \| 1.185 \| DISEASES 56978 \| PRDM8 \| 2.307 \| DISEASES 8559 \| PRPF18 \| 2.634 \| DISEASES 5660 \| PSAP \| 2.625 \| DISEASES 5710 \| PSMD4 \| 1.21 \| DISEASES 8073 \| PTP4A2 \| 1.119 \| DISEASES 5792 \| PTPRF \| 1.145 \| DISEASES 117177 \| RAB3IP \| 2.063 \| DISEASES 343035 \| RD3 \| 1.088 \| DISEASES 6019 \| RLN2 \| 1.268 \| DISEASES 56254 \| RNF20 \| 1.699 \| DISEASES 9810 \| RNF40 \| 1.909 \| DISEASES 6053 \| RNR2 \| 2.484 \| DISEASES 79363 \| RSG1 \| 3.057 \| DISEASES 6342 \| SCP2 \| 1.084 \| DISEASES 5271 \| SERPINB8 \| 1.124 \| DISEASES 23443 \| SLC35A3 \| 1.666 \| DISEASES 7922 \| SLC39A7 \| 1.574 \| DISEASES 6594 \| SMARCA1 \| 1.226 \| DISEASES 50485 \| SMARCAL1 \| 1.028 \| DISEASES 200162 \| SPAG17 \| 1.021 \| DISEASES 6689 \| SPIB \| 1.204 \| DISEASES 64426 \| SUDS3 \| 1.698 \| DISEASES 6799 \| SULT1A2 \| 1.392 \| DISEASES 25870 \| SUMF2 \| 1.215 \| DISEASES 9900 \| SV2A \| 1.455 \| DISEASES 54664 \| TMEM106B \| 1.046 \| DISEASES 7174 \| TPP2 \| 1.6 \| DISEASES 7322 \| UBE2D2 \| 1.262 \| DISEASES 23352 \| UBR4 \| 1.915 \| DISEASES 10490 \| VTI1B \| 3.265 \| DISEASES 64856 \| VWA1 \| 3.105 \| DISEASES 10897 \| YIF1A \| 4.507 \| DISEASES 84885 \| ZDHHC12 \| 3.09 \| DISEASES 54503 \| ZDHHC13 \| 2.13 \| DISEASES 158866 \| ZDHHC15 \| 2.589 \| DISEASES 23390 \| ZDHHC17 \| 1.815 \| DISEASES 55625 \| ZDHHC7 \| 2.421 \| DISEASES 29801 \| ZDHHC8 \| 1.945 \| DISEASES 51114 \| ZDHHC9 \| 2.021 \| DISEASES 100128252 \| ZNF667-AS1 \| 1.115 \| DISEASES
Locus	(Waiting for update.)

Disease ID	862
Disease	ceroid storage disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0001399 \| Liver failure HP:0001743 \| Abnormality of the spleen
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0001639 \| Hypertrophic cardiomyopathy \| 2 HP:0001638 \| Cardiomyopathy \| 2 HP:0002180 \| Neurodegeneration \| 1 HP:0001251 \| Ataxia \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0003200 \| Ragged-red fibers \| 1 HP:0002093 \| progressive respiratory failure \| 1 HP:0000572 \| Visual loss \| 1 HP:0002376 \| Loss of developmental milestones \| 1 HP:0001250 \| Seizures \| 1 HP:0002529 \| Neuronal loss in central nervous system \| 1 HP:0000726 \| Dementia \| 1 HP:0000529 \| Slowly progressive visual loss \| 1 HP:0012444 \| Brain wasting \| 1

Disease ID	862
Disease	ceroid storage disease
Manually Symptom	(Waiting for update.)
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:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137852696	16720047	5538	PPT1	umls:C0027877	BeFree	Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2.	0.019759175	2006	PPT1	1	40092409	T	G
rs267606737	19489875	1201	CLN3	umls:C0027877	BeFree	Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).	0.15230509	2009	CLN3;NPIPB8	16	28486427	G	T

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

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

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001399	Hepatic failure	MP:0006138	congestive heart failure	cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blo
HP:0001743	Abnormality of the spleen	MP:0004485	increased response of heart to induced stress	increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding

Mapped by homologous gene(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001399	Hepatic failure	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001743	Abnormality of the spleen	MP:0013696	increased granulocyte monocyte progenitor cell number	increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1

Disease ID	862
Disease	ceroid storage disease
Case	(Waiting for update.)

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