Gene Summary

Name:
aminolevulinate, delta-, dehydratase
Synonyms:
Lv

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Aladem1(IMPC)Tcp HOM   E9.5 0.00
small adrenal glands Aladem1(IMPC)Tcp HET Early adult 0.00
enlarged thymus Aladem1(IMPC)Tcp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Aladem1(IMPC)Tcp HOM   E15.5 0.00
increased circulating triglyceride level Aladem1(IMPC)Tcp HET   Early adult 1.05×10-05
abnormal sternum morphology Aladem1(IMPC)Tcp HET Early adult 0.00
enlarged urinary bladder Aladem1(IMPC)Tcp HET Early adult 0.00
decreased grip strength Aladem1(IMPC)Tcp HET Middle aged adult 1.27×10-06
decreased red blood cell distribution width Aladem1(IMPC)Tcp HET Late adult 5.59×10-06
preweaning lethality, complete penetrance Aladem1(IMPC)Tcp HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Ophthalmoscopy

147 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Histopathology

Images

17 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

58 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Histopathology

Images

3 Images

Human diseases caused by Alad mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Alad by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Abnormal erythrocyte enzyme level ORPHA:100924

The table below shows human diseases predicted to be associated to Alad by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia OMIM:232700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:145750
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Diabetes mellitus, Hypercholesterolemia OMIM:610947
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:614480
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie... OMIM:245900
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Adrenal calcification, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Clinodactyly of the 5th finger, Clinodactyly of the 5th toe OMIM:618010
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... OMIM:603552
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hepatomegaly, Diabetes ... OMIM:610717
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... OMIM:224120
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Temple Syndrome
Maturity-onset diabetes of the young, Small hand, Hypertriglyceridemia, Clinodactyly, Decreased t... OMIM:616222
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, ... OMIM:617575
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Glycerol Kinase Deficiency
Adrenal insufficiency, Increased urinary glycerol, Adrenocortical hypoplasia, Hypertriglyceridemi... OMIM:307030
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... ORPHA:79085
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... ORPHA:280356
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyc... OMIM:207750
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Increased serum leptin OMIM:617885
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Microcytic anemia, Hypo... OMIM:619013
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Familial Hyperaldosteronism Type Ii
Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, G... ORPHA:404
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hemolytic anemia OMIM:177000
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hy... OMIM:613677
Familial Hyperaldosteronism Type I
Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, D... ORPHA:403
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Anemia, Stage 5... OMIM:603278
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... OMIM:258900
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... OMIM:600995
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatomegaly, Increased LDL cholesterol concentration, Steatorrhea, Spleno... OMIM:278000
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... ORPHA:435651
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... OMIM:619313
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... OMIM:615558
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy, Hypercalciuria, Adrenal hyperplasia, Abnormal circulat... ORPHA:251274
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Increa... OMIM:267700
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Isolated Anencephaly
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia ORPHA:563609
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foc... ORPHA:567548
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Decreased serum... ORPHA:435660
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Glycogen Storage Disease Ixc
Bile duct proliferation, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:613027
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158061
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Macronodular... OMIM:219080
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Ovarian cyst, Abnormal response to ACTH stimulation test, I... ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Hypert... OMIM:615947
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol ... OMIM:615830
Hyperlipoproteinemia, Type I
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level,... ORPHA:231580
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Brachydactyly, Hypertriglyceridemia, Hypercholesterolemia, Shor... OMIM:182290
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Cryptorchidism, Hypogonadism OMIM:615381
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly ORPHA:363400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulati... ORPHA:247598
Mandibuloacral Dysplasia
Short clavicles, Hyperinsulinemia, Increased circulating free fatty acid level, Acroosteolysis of... ORPHA:2457
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Increased C-peptide level, Hypertr... ORPHA:528
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189439
Fanconi-Bickel Syndrome
Hypophosphatemia, Hepatomegaly, Renal tubular acidosis, Nephropathy, Glycosuria, Hypercalciuria, ... ORPHA:2088
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hemoph... OMIM:603553
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Abnormal circulating... ORPHA:90791
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Hypoproteinemia, Delayed menarche, Decreased ... ORPHA:247585
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Nephritis, Decreased response to growth hormone stimulation test,... OMIM:203800
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Maternal diabetes, Hypertriglyceridemia, Insulin-resistant diabetes m... ORPHA:79083
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Femoral bowin... ORPHA:95699
Citrullinemia, Type Ii, Adult-Onset
Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Hypertriglyceridemia, Elevated plasm... OMIM:603471
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189427
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Hepatomegaly, Splenomegaly OMIM:214900
Smith-Magenis Syndrome
Precocious puberty, Clinodactyly of the 5th finger, Abnormality of the ureter, Brachydactyly, Hyp... ORPHA:819
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphopenia, Splenomegaly, Thrombocytopenia, Finger swelling, Hypertriglyceridemia,... OMIM:617591
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:540
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Slender long bone, Congenital adrenal hyper... ORPHA:96181
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Elevate... OMIM:202010
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, H... ORPHA:412
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Hypospadias, Premature pubarche, Micropenis OMIM:201810
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Diabetes mellitus, Polycystic ovaries ORPHA:2348
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Short sternum OMIM:184800
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concen... ORPHA:261476
Seckel Syndrome 10
Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Cone-shaped epiphysis, G... OMIM:617253
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Cholesterol gallstones, Increased LDL cholesterol concentration, Hyperchole... ORPHA:209902
H Syndrome
Histiocytosis, Micropenis, Hepatosplenomegaly, Enlarged kidney, Camptodactyly, Hypertriglyceridem... ORPHA:168569
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... ORPHA:90790
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Myoglobinuria, Elevated circulating creatine ... ORPHA:370
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... ORPHA:158048
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Myoglobinuria, Elevated circulating creatine ... ORPHA:264580
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Hy... OMIM:618183
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hepatomegaly, Decreased glomerular filtration rate,... ORPHA:470
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Myoglobinuria, Elevated circulating creatine ... ORPHA:79240
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Increased circulating c... ORPHA:786
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Hypertriglyceridemia, P... ORPHA:79086
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Acroosteolysis of distal pha... ORPHA:280365
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Steatorrhea, Adrenal calcification, Hepatosplenomegaly, Abnormal urine po... ORPHA:275761
Familial Chylomicronemia Syndrome
Hyperlipidemia, Hepatosplenomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... ORPHA:444490
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Diffuse mesangial sclerosis, Hypoproteinemia, Hypo... OMIM:256300
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, Decreased testicular size, Hypercholesterolemia OMIM:610644
Griscelli Syndrome Type 2
Hyperlipidemia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Neutropenia, Lymphade... ORPHA:79477
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormality of toe, Equinus calcaneus, Arachnodactyly, Shoulder dislocation, Hammertoe, Hypertrig... ORPHA:536532
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Thyroiditis, Hyperlipidemia, Hepatomegaly, Abnormal myeloid leukocyte morphology... ORPHA:79259
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Gaisböck Syndrome
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... ORPHA:90041
Microtriplication 11Q24.1
Clinodactyly of the 5th finger, Hyperlipidemia, Small hand, Genu valgum, Short foot, Metatarsus a... ORPHA:289522
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:232400
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:98855
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Decreased HDL cholesterol concentratio... OMIM:151660
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Congenital megaureter, Hypercalciuria, Upper limb undergr... ORPHA:369837
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration,... OMIM:613327
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Abnormal leukocyte morphology, Neutropenia, Vacuola... ORPHA:167
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Cervical lymphadenopathy, Aplasti... ORPHA:2442
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:261
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Hypertri... ORPHA:31150
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Elevated circulating creatine kinase concentration, Diabetes mellitus, Abnormal c... OMIM:615980
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Proteinuria, Delayed puberty ORPHA:369
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Diabetes mellitus, Hypogonadism OMIM:277700
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Hepatomegaly, Abnormal ... ORPHA:98907
Mandibuloacral Dysplasia Progeroid Syndrome
Decreased fibular diameter, Hepatomegaly, Thin ribs, Left ventricular hypertrophy, Elevated hemog... OMIM:619127
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Increased LDL cholesterol concentration, Abnormal c... ORPHA:77293
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Camptodactyly ... OMIM:256040
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Adrenal gland agenesis OMIM:611812
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Lymphopenia, Nephrotic range proteinuria, Shallow acetabular fossae, Nephropathy,... ORPHA:1830
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Hyperlipidemia, Hepatomegaly, Splenomegaly ORPHA:1414
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Decreased serum leptin, Insulin-re... OMIM:608594
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Splenomegaly, Accessory spleen, Hypertriglyceridemia, Anemia, Polysplenia, Lymphade... OMIM:619418
Alagille Syndrome 1
Short distal phalanx of finger, Renal tubular acidosis, Papillary thyroid carcinoma, Focal segmen... OMIM:118450
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Elevate... OMIM:269700
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
19P13.12 Microdeletion Syndrome
Precocious puberty, Hyperlipidemia, Toe clinodactyly, Clinodactyly of the 5th finger, Hypospadias... ORPHA:254346
Hydrolethalus Syndrome 1
Hypospadias, Accessory spleen, Proximal tibial hypoplasia, Upper limb undergrowth, Adrenal gland ... OMIM:236680
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Neutropenia, Decreased glomerular filtration rate,... OMIM:232220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Tetraamelia Syndrome 1
Hypoplastic pelvis, Urethral atresia, Asplenia, Adrenal gland agenesis OMIM:273395
Neutral Lipid Storage Myopathy
Hepatomegaly, Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Diabetes ... ORPHA:98908
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Lymphopenia, Ce... OMIM:619573
Cushing Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Lymphopenia, Leukocyt... ORPHA:96253
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Short clavicles, Hyperinsulinemia, Hyperlipidemia, Hepatomegaly, ... OMIM:248370
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Hyperinsulinemia, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Sho... OMIM:608612
Atypical Werner Syndrome
Type II diabetes mellitus, Ovarian neoplasm, Hyperinsulinemia, Glycosuria, Finger clinodactyly, R... ORPHA:79474
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Thin ribs, Short femur, Hypospadias, Hypoplasia of the thymus... OMIM:264090
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulocytosis, Thromb... ORPHA:79277
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Hyperlipidemia, Glycosuria ORPHA:2089
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Myoglobinuria, Cy... ORPHA:157
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Pulmonary carcinoid tumor, Hypercholesterolemia ORPHA:363618
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, M... ORPHA:228308
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Short distal phalanx of finger, Clinodactyly o... ORPHA:79500
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Primary Lipodystrophy
Polycystic ovaries, Hyperlipidemia, Type II diabetes mellitus, Splenomegaly ORPHA:90970
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Arachnodactyly, Thymus hyperplasia OMIM:619036
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Hyperthyroidism, Short femur, Hypogonadotropic hyp... ORPHA:3455
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kid... OMIM:232200
Aapoaiv Amyloidosis
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Elevated circulating c... ORPHA:439232
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short distal phalanx of finger, Hyperlipidemia, Abnormal fingertip morphology, Acroosteolysis of ... ORPHA:90154
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental ... ORPHA:567546
Aromatase Deficiency
Delayed epiphyseal ossification, Hyperlipidemia, Type II diabetes mellitus, Hypergonadotropic hyp... ORPHA:91
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hematuria, Hyperuricemia ORPHA:35909
Woodhouse-Sakati Syndrome
Hyperlipidemia, Decreased serum testosterone concentration, Micropenis, Hypergonadotropic hypogon... OMIM:241080
Glycogen Storage Disease Ic
Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Hematuria, Focal segmental gl... OMIM:232240
Craniorachischisis
Bifid sternum ORPHA:63260
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Breast... ORPHA:90153
Proteus Syndrome
Clinodactyly of the 5th finger, Ovarian neoplasm, Abnormality of finger, Splenomegaly, Neoplasm o... ORPHA:744
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Decreased serum testosterone concentration, Decreased response ... ORPHA:3464
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Type I diabetes mellitus, Hypercholesterolemia OMIM:606721
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Elevated circulating creatine... ORPHA:565612
Familial Multiple Lipomatosis
Hyperlipidemia, Bowing of the long bones ORPHA:199276
Alström Syndrome
Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Hyoplasia of the Leydig cells, Te... ORPHA:64
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... ORPHA:293987
Fabry Disease
Abnormality of femur morphology, Nephrotic syndrome, Hyperlipidemia, Abnormal circulating lipid c... ORPHA:324
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Hyperextensibility of the finger joints, Tapered finger, Bifid ster... OMIM:303600
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Short sternum, Irregular proximal tibial epiphyses, High urinary gonadotropin l... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Short sternum, Irregular proximal tibial epiphyses, High urinary gonadotropin l... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Short sternum, Irregular proximal tibial epiphyses, High urinary gonadotropin l... ORPHA:99228
Monosomy X
Hyperinsulinemia, Short sternum, Irregular proximal tibial epiphyses, High urinary gonadotropin l... ORPHA:99226
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, Renal artery stenosis ORPHA:391665
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Abnormal erythrocyte enzyme level ORPHA:100924

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Alad

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Alad.

No publications found that use IMPC mice or data for Alad.

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MGI Allele Allele Type Produced
Aladtm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aladtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aladtm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aladtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Aladem1(IMPC)Tcp Exon Deletion Mice, Tissue

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