eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lysosomal acid lipase deficiency | ||||
| Disease ID | 577 |
|---|---|
| Disease | lysosomal acid lipase deficiency |
| 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 (disorder) primary familial xanthomatosis primary familial xanthomatosis with adrenal calcification wolman dis wolman disease 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 | |
| OMIM | |
| DOID | |
| UMLS | C0043208 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:22) 19 | ABCA1 | 1.052 | DISEASES 51099 | ABHD5 | 2.291 | DISEASES 55811 | ADCY10 | 1.532 | DISEASES 158835 | AWAT2 | 3.57 | DISEASES 922 | CD5L | 2.64 | DISEASES 285440 | CYP4V2 | 2.257 | DISEASES 8694 | DGAT1 | 2.001 | DISEASES 1896 | EDA | 1.201 | DISEASES 255324 | EPGN | 2.125 | DISEASES 2805 | GOT1 | 2.753 | DISEASES 3030 | HADHA | 1.329 | DISEASES 3052 | HCCS | 1.398 | DISEASES 3916 | LAMP1 | 1.414 | DISEASES 3980 | LIG3 | 1.717 | DISEASES 3988 | LIPA | 7.941 | DISEASES 8513 | LIPF | 5.685 | DISEASES 4018 | LPA | 1.024 | DISEASES 10227 | MFSD10 | 3.543 | DISEASES 10577 | NPC2 | 2.006 | DISEASES 54681 | P4HTM | 2.654 | DISEASES 5406 | PNLIP | 1.387 | DISEASES 26503 | SLC17A5 | 1.928 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 577 |
|---|---|
| Disease | lysosomal acid lipase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:57) HP:0001263 | Global developmental delay HP:0001297 | Stroke HP:0001414 | Microvesicular hepatic steatosis HP:0002013 | Vomiting HP:0004416 | Precocious atherosclerosis HP:0100543 | Cognitive impairment HP:0001395 | Hepatic fibrosis HP:0002027 | Abdominal pain HP:0001824 | Weight loss HP:0003124 | Hypercholesterolemia HP:0012605 | Hypernatriuria HP:0012598 | Abnormal urine potassium concentration HP:0001433 | Hepatosplenomegaly HP:0002014 | Diarrhea HP:0002092 | Pulmonary artery hypertension HP:0002902 | Hyponatremia HP:0001941 | Acidosis HP:0002361 | Psychomotor deterioration HP:0002615 | Hypotension HP:0002017 | Nausea and vomiting HP:0003155 | Elevated alkaline phosphatase HP:0001944 | Dehydration HP:0000952 | Jaundice HP:0001971 | Hypersplenism HP:0001433 | Enlarged liver and spleen HP:0001541 | Ascites HP:0001538 | Protuberant abdomen HP:0001903 | Anemia HP:0002155 | Hypertriglyceridemia HP:0004929 | Coronary atherosclerosis HP:0011968 | Feeding difficulties HP:0010512 | Adrenal calcification HP:0006583 | Fatal liver failure in infancy HP:0001399 | Hepatic failure HP:0011106 | Hypovolemia HP:0001114 | Xanthelasma HP:0001410 | Decreased liver function HP:0001508 | Weight faltering HP:0002092 | Pulmonary arterial hypertension HP:0004333 | Bone marrow foam cells HP:0000991 | Xanthomatosis HP:0001508 | Failure to thrive HP:0002153 | Hyperkalemia HP:0002040 | Esophageal varix HP:0002910 | Elevated hepatic transaminases HP:0002570 | Steatorrhea HP:0003270 | Abdominal distention HP:0004326 | Cachexia HP:0001922 | Vacuolated blood lymphocytes HP:0000127 | Renal salt wasting HP:0004395 | Malnutrition HP:0004333 | Bone-marrow foam cells HP:0008207 | Primary adrenal insufficiency HP:0000989 | Pruritus HP:0003124 | Elevated serum cholesterol HP:0001922 | Vacuolated lymphocytes HP:0002013 | Emesis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0000716 | Depression | 2 HP:0002621 | Atherosclerosis | 2 HP:0001677 | Coronary artery disease | 1 HP:0001394 | Hepatic cirrhosis | 1 |
| Disease ID | 577 |
|---|---|
| Disease | lysosomal acid lipase deficiency |
| 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: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:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001414 | Microvesicular hepatic steatosis | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0001538 | Protuberant abdomen | MP:0001270 | distended abdomen | abdomen appears curved outward or swollen |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0004333 | Bone-marrow foam cells | MP:0009841 | foam cell reticulosis | an increase in cells with a vacuolated appearance due to abnormal deposition and retention of lipoproteins and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages |
| HP:0008207 | Primary adrenal insufficiency | MP:0011362 | ectopic adrenal gland | an adrenal gland located outside of its normal position |
| HP:0001410 | Decreased liver function | MP:0010398 | decreased liver glycogen level | less than the normal concentration of a readily converted carbohydrate reserve in liver |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| 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:0006583 | Fatal liver failure in infancy | MP:0010027 | increased liver cholesterol level | greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be foun |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0001395 | Hepatic fibrosis | MP:0003985 | renal fibrosis | formation of fibrous tissue in the kidney as a result of repair or a reactive process |
| HP:0003155 | Elevated alkaline phosphatase | MP:0011584 | increased alkaline phosphatase activity | greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:48) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001410 | Decreased liver function | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004333 | Bone-marrow foam cells | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001944 | Dehydration | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0001114 | Xanthelasma | MP:0011231 | abnormal vitamin E level | any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant |
| HP:0002153 | Hyperkalemia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001399 | Hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002570 | Steatorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001414 | Microvesicular hepatic steatosis | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0004416 | Precocious atherosclerosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008207 | Primary adrenal insufficiency | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000991 | Xanthomatosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006583 | Fatal liver failure in infancy | MP:0012232 | abnormal ceramide level | |
| HP:0001395 | Hepatic fibrosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0002040 | Esophageal varix | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0011968 | Feeding difficulties | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004929 | Coronary atherosclerosis | MP:0010078 | increased circulating phytosterol level | increase in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol |
| HP:0001922 | Vacuolated lymphocytes | MP:0011939 | increased food intake | increase in the total number of calories/food amount taken in over time when compared to the normal state |
| HP:0012605 | Hypernatriuria | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| HP:0001297 | Stroke | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001433 | Hepatosplenomegaly | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001263 | Global developmental delay | 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:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002910 | Elevated hepatic transaminases | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003270 | Abdominal distention | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002155 | Hypertriglyceridemia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000127 | Renal salt wasting | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002361 | Psychomotor deterioration | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0001941 | Acidosis | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001971 | Hypersplenism | MP:0011491 | ureteropelvic junction obstruction | a partial or total blockage of the flow of urine through the junction of the renal pelvis and the proximal ureter |
| HP:0001538 | Protuberant abdomen | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003155 | Elevated alkaline phosphatase | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002615 | Hypotension | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003124 | Hypercholesterolemia | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0002902 | Hyponatremia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0004395 | Malnutrition | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0010512 | Adrenal calcification | MP:0011939 | increased food intake | increase in the total number of calories/food amount taken in over time when compared to the normal state |
| Disease ID | 577 |
|---|---|
| Disease | lysosomal acid lipase deficiency |
| Case | (Waiting for update.) |