PedAM

Pediatric Disease Annotations & Medicines


	wolman disease

Disease ID	813
Disease	wolman disease
Definition	The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
Synonym	acid cholesteryl ester hydrolase deficiency, wolman type acid esterase deficiency acid esterase deficiency (disorder) acid lipase deficiency acid lipase deficiency (disorder) acid lipase deficiency, nos cesd cholesterol ester hydrolase deficiency deficiency of cholesterol esterase and triacylglycerol lipase disease, wolman disease, wolman's familial visceral xanthomatosis familial xanthomatoses familial xanthomatosis lal (lysosomal acid lipase) deficiency lal deficiency lald - lysosomal acid lipase deficiency lipa deficiency liposomal acid lipase deficiency, wolman type lysosomal acid lipase deficiency lysosomal acid lipase deficiency (disorder) primary familial xanthomatosis primary familial xanthomatosis with adrenal calcification wolman dis wolman disease [disease/finding] wolman xanthomatosis wolman's disease wolman's disease (disorder) wolman's or triglyceride storage type iii disease wolman's xanthomatosis wolmans dis wolmans disease xanthomatoses, familial xanthomatosis, familial xanthomatosis, familial (disorder) xanthomatosis, wolman xanthomatosis, wolman's xanthomatosis, wolmans
Orphanet	ORPHANET:75233 ORPHANET:275761
OMIM	OMIM:278000
DOID	DOID:14497
UMLS	C0043208
MeSH	D015223
SNOMED-CT	SNOMEDCT_US_2016_09_01:82500001;SNOMEDCT_US_2016_09_01:238074007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0024291 \| hemophagocytic lymphohistiocytosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) LIPA \| 3988 \| CLINVAR;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:38) 4074 \| M6PR \| DISEASES 4669 \| NAGLU \| DISEASES 84649 \| DGAT2 \| DISEASES 10804 \| GJB6 \| DISEASES 6626 \| SNRPA \| DISEASES 51119 \| SBDS \| DISEASES 3425 \| IDUA \| DISEASES 9388 \| LIPG \| DISEASES 175 \| AGA \| DISEASES 1583 \| CYP11A1 \| DISEASES 4864 \| NPC1 \| DISEASES 6770 \| STAR \| DISEASES 3156 \| HMGCR \| DISEASES 8435 \| SOAT2 \| DISEASES 2720 \| GLB1 \| DISEASES 4245 \| MGAT1 \| DISEASES 4018 \| LPA \| DISEASES 3052 \| HCCS \| DISEASES 255324 \| EPGN \| DISEASES 8694 \| DGAT1 \| DISEASES 10227 \| MFSD10 \| DISEASES 3916 \| LAMP1 \| DISEASES 3988 \| LIPA \| DISEASES 54681 \| P4HTM \| DISEASES 26503 \| SLC17A5 \| DISEASES 55811 \| ADCY10 \| DISEASES 922 \| CD5L \| DISEASES 5406 \| PNLIP \| DISEASES 2805 \| GOT1 \| DISEASES 1896 \| EDA \| DISEASES 19 \| ABCA1 \| DISEASES 3980 \| LIG3 \| DISEASES 285440 \| CYP4V2 \| DISEASES 3030 \| HADHA \| DISEASES 8513 \| LIPF \| DISEASES 51099 \| ABHD5 \| DISEASES 158835 \| AWAT2 \| DISEASES 10577 \| NPC2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	813
Disease	wolman disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:27) HP:0004326 \| Cachexia HP:0002092 \| Pulmonary artery hypertension HP:0004395 \| Malnutrition HP:0002014 \| Diarrhea HP:0001263 \| Global developmental delay HP:0002570 \| Steatorrhea HP:0001508 \| Weight faltering HP:0001945 \| Fever HP:0001510 \| Growth delay HP:0001744 \| Splenomegaly HP:0004333 \| Bone-marrow foam cells HP:0001395 \| Hepatic fibrosis HP:0001399 \| Hepatic failure HP:0002240 \| Hepatomegaly HP:0003270 \| Abdominal distention HP:0000846 \| Adrenal insufficiency HP:0001538 \| Protuberant abdomen HP:0001433 \| Enlarged liver and spleen HP:0002017 \| Nausea and vomiting HP:0002040 \| Esophageal varix HP:0001541 \| Ascites HP:0001922 \| Vacuolated blood lymphocytes HP:0001903 \| Anemia HP:0003124 \| Elevated serum cholesterol HP:0004333 \| Bone marrow foam cells HP:0010512 \| Adrenal calcification HP:0002013 \| Emesis
Text Mined Phenotype	(Waiting for update.)

Disease ID	813
Disease	wolman disease
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:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs116928232	NA	3988	LIPA	umls:C0043208	CLINVAR	NA	0.446514605	NA	LIPA	10	89222511	C	T
rs121965086	NA	3988	LIPA	umls:C0043208	CLINVAR	NA	0.446514605	NA	LIPA	10	89225168	A	G
rs267607218	NA	3988	LIPA	umls:C0043208	CLINVAR	NA	0.446514605	NA	LIPA	10	89223710	C	A
rs587778878	NA	3988	LIPA	umls:C0043208	CLINVAR	NA	0.446514605	NA	LIPA	10	89228368	C	A
rs780495201	NA	3988	LIPA	umls:C0043208	CLINVAR	NA	0.446514605	NA	LIPA	10	89225172	-	A
rs797045094	NA	3988	LIPA	umls:C0043208	CLINVAR	NA	0.446514605	NA	LIPA	10	89228375	G	A

GWASdb Annotation(Total Genotypes:11)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
10	90975649	rs3802656	NM_001127605,LIPA	NM_000235,LIPA	ENST00000371837,ENSG00000107798	ENST00000371829,ENSG00000107798	ENST00000354621,ENSG00000107798	ENST00000336233,ENSG00000107798	ENST00000425287,ENSG00000107798	ENST00000456827,ENSG00000107798	NA	NA	NA	NA	En1_3123,15.7636	Isl2_3430,24.0617	Msx3_3206,18.131	Pou6f1_1731,18.7981	Pou6f1_3733,20.254	NA	NA	NA	NA	NA	NA	0.001	0.975	2.28	L0	G	0.316	0.450	0.247	0.240	0.020	0.200	0.530
10	90979093	rs17117501	NM_001127605,LIPA	NM_000235,LIPA	ENST00000371837,ENSG00000107798	ENST00000371829,ENSG00000107798	ENST00000354621,ENSG00000107798	ENST00000336233,ENSG00000107798	ENST00000425287,ENSG00000107798	ENST00000456827,ENSG00000107798	MCV-1	NA	NA	NA	LM199,3.094	LM214,4.7818	En1,4.9792	FOXC1,1.3091	RYTGCNWTGGNR,2.2843	NA	NA	NA	NA	NA	NA	0.000	-0.912	-3.37	R0	A	NA	NA	NA	NA	NA	NA	NA
10	90985948	rs2254747	NM_001127605,LIPA	NM_000235,LIPA	ENST00000371837,ENSG00000107798	ENST00000371829,ENSG00000107798	ENST00000354621,ENSG00000107798	ENST00000282673,ENSG00000107798	ENST00000336233,ENSG00000107798	ENST00000425287,ENSG00000107798	ENST00000456827,ENSG00000107798	ENST00000428800,ENSG00000107798	NA	NA	NA	NA	Cdx1_2245,1.5484	Yrm1-primary,2.3267	LM1,2.2648	LM3,8.2801	LM10,3.0936	NA	NA	NA	NA	NA	NA	0.000	-0.290	-2.02	F1	T	NA	NA	NA	NA	NA
10	90987564	rs2071510	NM_001127605,LIPA	NM_000235,LIPA	ENST00000371837,ENSG00000107798	ENST00000371829,ENSG00000107798	ENST00000354621,ENSG00000107798	ENST00000282673,ENSG00000107798	ENST00000336233,ENSG00000107798	ENST00000425287,ENSG00000107798	ENST00000456827,ENSG00000107798	ENST00000428800,ENSG00000107798	NA	NA	NA	NA	LM50,3.7267	LM50,1.9044	LM74,2.2407	LM81,4.062	LM107,2.2403	NA	NA	NA	NA	NA	NA	0.000	0.080	0.372	L0	T	NA	NA	NA	NA	NA
10	90989109	rs11203042	NM_001127605,LIPA	NM_000235,LIPA	ENST00000371837,ENSG00000107798	ENST00000371829,ENSG00000107798	ENST00000354621,ENSG00000107798	ENST00000282673,ENSG00000107798	ENST00000336233,ENSG00000107798	ENST00000425287,ENSG00000107798	ENST00000456827,ENSG00000107798	ENST00000428800,ENSG00000107798	NA	NA	NA	NA	Bas1-primary,18.2457	Crx_3485,1.8252	Dmbx1_2277,1.934	Lys14-primary,1.2661	Nkx2-5_3436,4.8439	NA	NA	NA	NA	NA	NA	0.000	-0.911	-2.7	D	C	NA	NA	NA	NA	NA
10	90999939	rs2902563	NM_001127605,LIPA	NM_000235,LIPA	ENST00000371837,ENSG00000107798	ENST00000371829,ENSG00000107798	ENST00000354621,ENSG00000107798	ENST00000282673,ENSG00000107798	ENST00000336233,ENSG00000107798	ENST00000425287,ENSG00000107798	ENST00000456827,ENSG00000107798	ENST00000428800,ENSG00000107798	NA	NA	chr10,90990001,91000000,chr10,89010001,89020000,27,Hi-C	chr10,90990001,91000000,chr13,50200001,50210000,4,Hi-C	chr10,90990001,91000000,chr6,95380001,95390000,6,Hi-C	chr10,90990001,91000000,chr10,86380001,86390000,6,Hi-C	chr10,90990001,91000000,chr2,129030001,129040000,6,Hi-C	chr10,90990001,91000000,chr10,104950001,104960000,8,Hi-C	chr10,90990001,91000000,chr10,91050001,91060000,12,Hi-C	NA	Fkh1-FL-primary,2.5887	Fkh2-primary,1.4843	Hoxc12_3480,20.4949	Sfl1-DBD-primary,2.0199	Yrr1-FL-primary,1.6736	NA	NA	NA	NA	NA	NA	0.000	-0.414	-2.06	R0
10	91002927	rs1412444	NM_001127605,LIPA	NM_000235,LIPA	ENST00000371837,ENSG00000107798	ENST00000371829,ENSG00000107798	ENST00000354621,ENSG00000107798	ENST00000282673,ENSG00000107798	ENST00000336233,ENSG00000107798	ENST00000425287,ENSG00000107798	ENST00000456827,ENSG00000107798	ENST00000428800,ENSG00000107798	CHMM	TFP.SPI1	TFP.MEF2A	NA	NA	NA	LM49,2.0854	LM66,2.6289	LM74,2.2097	LM76,3.0397	LM153,6.7077	NA	NA	NA	NA	NA	NA	0.000	-1.005	-4.26	H3K9me1	C	NA	NA	NA
10	91004886	rs2246942	NM_001127605,LIPA	NM_000235,LIPA	ENST00000371837,ENSG00000107798	ENST00000371829,ENSG00000107798	ENST00000354621,ENSG00000107798	ENST00000282673,ENSG00000107798	ENST00000336233,ENSG00000107798	ENST00000425287,ENSG00000107798	ENST00000456827,ENSG00000107798	ENST00000428800,ENSG00000107798	NA	NA	NA	NA	Fkh2-primary,1.2678	Hoxc5_2630,1.8054	Hoxc6_3954,2.0024	Matalpha2-primary,3.0675	Pho2-DBD-primary,1.3751	NA	NA	NA	NA	NA	NA	0.000	-0.227	-1.3	F1	A	NA	NA	NA	NA	NA
10	91005854	rs2246833	NM_001127605,LIPA	NM_000235,LIPA	ENST00000371837,ENSG00000107798	ENST00000371829,ENSG00000107798	ENST00000354621,ENSG00000107798	ENST00000282673,ENSG00000107798	ENST00000336233,ENSG00000107798	ENST00000425287,ENSG00000107798	ENST00000456827,ENSG00000107798	ENST00000428800,ENSG00000107798	TFP.CTCF	TFP.RAD21	MCV-12	NA	NA	NA	Hal9-primary,1.4329	Hal9-primary,1.4065	Ndt80-primary,2.4499	Pho2-DBD-primary,5.3297	Pho2-DBD-primary,1.4577	NA	NA	NA	NA	NA	NA	0.000	-0.095	-0.607	C1	C	NA	NA	NA
10	91007470	rs2250781	NM_001127605,LIPA	NM_000235,LIPA	ENST00000371837,ENSG00000107798	ENST00000371829,ENSG00000107798	ENST00000354621,ENSG00000107798	ENST00000282673,ENSG00000107798	ENST00000336233,ENSG00000107798	ENST00000425287,ENSG00000107798	ENST00000456827,ENSG00000107798	ENST00000428800,ENSG00000107798	NA	NA	NA	NA	Aft1-primary,2.4992	Dobox5_3493,3.0101	Hoxc4_3491,24.0601	Leu3-primary,1.5817	Obox1_3970,1.2847	NA	NA	NA	NA	NA	NA	0.000	0.492	2	F1	A	NA	NA	NA	0.560	0.410
10	91010479	rs2243547	NM_001127605,LIPA	NM_000235,LIPA	ENST00000371837,ENSG00000107798	ENST00000371829,ENSG00000107798	ENST00000354621,ENSG00000107798	ENST00000282673,ENSG00000107798	ENST00000336233,ENSG00000107798	ENST00000425287,ENSG00000107798	ENST00000456827,ENSG00000107798	TFP.HNF4A	TFP.TBP	TFP.HDAC2	MCV-4	TFP.GATA2	NA	NA	NA	LM16,1.4276	LM16,42.6004	LM19,7.9133	LM22,8.5687	LM84,2.2219	NA	NA	NA	NA	NA	NA	0.000	-0.238	-1.6	R2	A	NA	NA

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.)

Chemical(Total Drugs:0)
(Waiting for update.)

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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