PedAM

Pediatric Disease Annotations & Medicines


	lipomatosis

Disease ID	1078
Disease	lipomatosis
Definition	A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA.
Synonym	lipomatoses lipomatosis (disorder) lipomatosis (morphologic abnormality) lipomatosis [disease/finding] lipomatosis, nos
DOID	DOID:3153
UMLS	C0023801
MeSH	D008068
SNOMED-CT	SNOMEDCT_US_2016_09_01:402693001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:33) C0028754 \| obesity \| 3 C0034186 \| pyelonephritis \| 2 C0034188 \| xanthogranulomatous pyelonephritis \| 2 C1306837 \| papillary renal cell carcinoma \| 1 C0021933 \| intussusception \| 1 C0024523 \| malabsorption \| 1 C0376545 \| hematologic malignancies \| 1 C0030326 \| panniculitis \| 1 C0037052 \| sick sinus syndrome \| 1 C0023798 \| lipoma \| 1 C0011849 \| diabetes mellitus \| 1 C0007133 \| papillary carcinoma \| 1 C0175704 \| leopard syndrome \| 1 C0009806 \| constipation \| 1 C0241910 \| autoimmune hepatitis \| 1 C0041956 \| ureteric obstruction \| 1 C0007134 \| renal cell carcinoma \| 1 C0011847 \| diabetes \| 1 C0038358 \| gastric ulcer \| 1 C0038358 \| gastric ulceration \| 1 C0028756 \| severe obesity \| 1 C0035078 \| renal failure \| 1 C0078981 \| arachnoid cyst \| 1 C0030783 \| pellagra \| 1 C0023801 \| madelung's disease \| 1 C0028326 \| noonan syndrome \| 1 C0024523 \| malabsorption syndrome \| 1 C0010674 \| cystic fibrosis \| 1 C0700251 \| brachial plexopathy \| 1 C0235752 \| port-wine stain \| 1 C0018553 \| cowden disease \| 1 C0030286 \| pancreatic disease \| 1 C0003857 \| arteriovenous malformation \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) PTEN \| 5728 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:91) 4617 \| MYF5 \| DISEASES 4848 \| CNOT2 \| DISEASES 9068 \| ANGPTL1 \| DISEASES 9927 \| MFN2 \| DISEASES 63923 \| TNN \| DISEASES 5266 \| PI3 \| DISEASES 3991 \| LIPE \| DISEASES 51119 \| SBDS \| DISEASES 7166 \| TPH1 \| DISEASES 3630 \| INS \| DISEASES 10343 \| PKDREJ \| DISEASES 3915 \| LAMC1 \| DISEASES 26160 \| IFT172 \| DISEASES 79728 \| PALB2 \| DISEASES 5465 \| PPARA \| DISEASES 7350 \| UCP1 \| DISEASES 89884 \| LHX4 \| DISEASES 10000 \| AKT3 \| DISEASES 5290 \| PIK3CA \| DISEASES 3918 \| LAMC2 \| DISEASES 7294 \| TXK \| DISEASES 5443 \| POMC \| DISEASES 55749 \| CCAR1 \| DISEASES 4060 \| LUM \| DISEASES 3073 \| HEXA \| DISEASES 54957 \| TXNL4B \| DISEASES 207 \| AKT1 \| DISEASES 52 \| ACP1 \| DISEASES 5921 \| RASA1 \| DISEASES 7069 \| THRSP \| DISEASES 7545 \| ZIC1 \| DISEASES 2776 \| GNAQ \| DISEASES 5468 \| PPARG \| DISEASES 340348 \| TSPAN33 \| DISEASES 3600 \| IL15 \| DISEASES 161742 \| SPRED1 \| DISEASES 121599 \| SPIC \| DISEASES 10818 \| FRS2 \| DISEASES 5346 \| PLIN1 \| DISEASES 1292 \| COL6A2 \| DISEASES 29123 \| ANKRD11 \| DISEASES 3159 \| HMGA1 \| DISEASES 947 \| CD34 \| DISEASES 8815 \| BANF1 \| DISEASES 2997 \| GYS1 \| DISEASES 9370 \| ADIPOQ \| DISEASES 3052 \| HCCS \| DISEASES 222546 \| RFX6 \| DISEASES 9547 \| CXCL14 \| DISEASES 4221 \| MEN1 \| DISEASES 8788 \| DLK1 \| DISEASES 92399 \| MRRF \| DISEASES 7453 \| WARS \| DISEASES 4625 \| MYH7 \| DISEASES 91687 \| CENPL \| DISEASES 4763 \| NF1 \| DISEASES 5573 \| PRKAR1A \| DISEASES 131177 \| FAM3D \| DISEASES 26580 \| BSCL2 \| DISEASES 4508 \| MT-ATP6 \| DISEASES 4541 \| MT-ND6 \| DISEASES 26227 \| PHGDH \| DISEASES 10555 \| AGPAT2 \| DISEASES 5728 \| PTEN \| DISEASES 1056 \| CEL \| DISEASES 10269 \| ZMPSTE24 \| DISEASES 5696 \| PSMB8 \| DISEASES 8874 \| ARHGEF7 \| DISEASES 256297 \| PTF1A \| DISEASES 11127 \| KIF3A \| DISEASES 9244 \| CRLF1 \| DISEASES 2591 \| GALNT3 \| DISEASES 9560 \| CCL4L2 \| DISEASES 6164 \| RPL34 \| DISEASES 2643 \| GCH1 \| DISEASES 116372 \| LYPD1 \| DISEASES 6093 \| ROCK1 \| DISEASES 8091 \| HMGA2 \| DISEASES 57703 \| CWC22 \| DISEASES 10989 \| IMMT \| DISEASES 3481 \| IGF2 \| DISEASES 6399 \| TRAPPC2 \| DISEASES 2260 \| FGFR1 \| DISEASES 79718 \| TBL1XR1 \| DISEASES 79827 \| CLMP \| DISEASES 10908 \| PNPLA6 \| DISEASES 63924 \| CIDEC \| DISEASES 3831 \| KLC1 \| DISEASES 2108 \| ETFA \| DISEASES 100124700 \| HOTAIR \| DISEASES 4566 \| MT-TK \| DISEASES
Locus	(Waiting for update.)

Disease ID	1078
Disease	lipomatosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:32) HP:0001513 \| Obesity \| 3 HP:0012330 \| Pyelonephritis \| 2 HP:0012531 \| Pain \| 2 HP:0007206 \| Hemimegalencephaly \| 2 HP:0002024 \| Intestinal malabsorption \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0030731 \| Carcinoma \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0006766 \| Papillary renal cell carcinoma \| 1 HP:0012032 \| Lipoma \| 1 HP:0200040 \| Epidermal inclusion cyst \| 1 HP:0002835 \| Aspiration \| 1 HP:0004904 \| Maturity-onset diabetes of the young \| 1 HP:0002576 \| Intussusception \| 1 HP:0011704 \| Sick sinus syndrome \| 1 HP:0002019 \| Dyschezia \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0001052 \| port-wine stain \| 1 HP:0010980 \| Hyperlipoproteinemia \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0012490 \| Inflammation of fat tissue \| 1 HP:0005584 \| Renal cell carcinoma \| 1 HP:0002176 \| Spinal cord compression \| 1 HP:0012721 \| Venous malformations \| 1 HP:0002664 \| Neoplasia \| 1 HP:0100749 \| Thoracic pain \| 1 HP:0100702 \| Arachnoid cyst \| 1 HP:0002094 \| Dyspnea \| 1 HP:0001824 \| Weight loss \| 1 HP:0003418 \| Back pain \| 1 HP:0001548 \| Overgrowth \| 1 HP:0002592 \| Stomach ulcer \| 1

Disease ID	1078
Disease	lipomatosis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913279	24903541	5290	PIK3CA	umls:C0023801	BeFree	Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.	0.000542884	2014	PIK3CA	3	179234297	A	G,T

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

GWASdb Snp Trait(Total Genotypes:8)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	157437510	rs6686423	G	A	rs6686423	22044751	8.00E-06	NA	0.19	[0.11-0.28] unit decrease	2,809 European ancestry individuals	European(2809)	ALL(2809)	EUR(2809)	ALL(2809)	Renal sinus fat	HPOID:0000077	Abnormality of the kidney	DOID:557	DOID:9970	DOID:10763	kidney disease	obesity	hypertension	D008068	Lipomatosis	NA	NA	Hypertension
5	98579964	rs17736767	C	G	rs17736767	22044751	7.00E-06	NA	0.21	[0.12-0.30] unit decrease	2,809 European ancestry individuals	European(2809)	ALL(2809)	EUR(2809)	ALL(2809)	Renal sinus fat	HPOID:0000077	Abnormality of the kidney	DOID:557	DOID:9970	DOID:10763	kidney disease	obesity	hypertension	D008068	Lipomatosis	NA	NA	Hypertension
6	130216510	rs9375674	A	G	rs9375674	22044751	6.00E-06	NA	0.16	[0.089-0.227] unit increase	2,809 European ancestry individuals	European(2809)	ALL(2809)	EUR(2809)	ALL(2809)	Renal sinus fat	HPOID:0000077	Abnormality of the kidney	DOID:557	DOID:9970	DOID:10763	kidney disease	obesity	hypertension	D008068	Lipomatosis	NA	NA	Hypertension
9	71865932	rs2282335	G	A	rs2282335	22044751	4.00E-06	NA	0.17	[0.098-0.244] unit increase	2,809 European ancestry individuals	European(2809)	ALL(2809)	EUR(2809)	ALL(2809)	Renal sinus fat	HPOID:0000077	Abnormality of the kidney	DOID:557	DOID:9970	DOID:10763	kidney disease	obesity	hypertension	D008068	Lipomatosis	NA	NA	Hypertension
11	110395858	rs12785341	A	C	rs12785341	22044751	8.00E-06	NA	0.29	[0.16-0.42] unit increase	2,809 European ancestry individuals	European(2809)	ALL(2809)	EUR(2809)	ALL(2809)	Renal sinus fat	HPOID:0000077	Abnormality of the kidney	DOID:557	DOID:9970	DOID:10763	kidney disease	obesity	hypertension	D008068	Lipomatosis	NA	NA	Hypertension
12	129324938	rs10744391	G	A	rs10744391	22044751	1.00E-06	NA	0.22	[0.13-0.31] unit decrease	2,809 European ancestry individuals	European(2809)	ALL(2809)	EUR(2809)	ALL(2809)	Renal sinus fat	HPOID:0000077	Abnormality of the kidney	DOID:557	DOID:9970	DOID:10763	kidney disease	obesity	hypertension	D008068	Lipomatosis	NA	NA	Hypertension
13	94870765	rs1572050	G	A	rs1572050	22044751	6.00E-06	NA	0.31	[0.18-0.45] unit decrease	2,809 European ancestry individuals	European(2809)	ALL(2809)	EUR(2809)	ALL(2809)	Renal sinus fat	HPOID:0000077	Abnormality of the kidney	DOID:557	DOID:9970	DOID:10763	kidney disease	obesity	hypertension	D008068	Lipomatosis	NA	NA	Hypertension
21	32817507	rs580140	A	G	rs580140	22044751	3.00E-06	NA	0.18	[0.11-0.26] unit decrease	2,809 European ancestry individuals	European(2809)	ALL(2809)	EUR(2809)	ALL(2809)	Renal sinus fat	HPOID:0000077	Abnormality of the kidney	DOID:557	DOID:9970	DOID:10763	kidney disease	obesity	hypertension	D008068	Lipomatosis	NA	NA	Hypertension

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

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

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0023801	indinavir	D019469	150378-17-9	lipomatosis	MESH:D008068	marker/mechanism	11852297

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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