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
preweaning lethality, complete penetrance Aladem1(IMPC)Tcp HOM   Early adult 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
decreased red blood cell distribution width Aladem1(IMPC)Tcp HET Late adult 5.59×10-06
enlarged thymus Aladem1(IMPC)Tcp HET Early adult 0.00
decreased grip strength Aladem1(IMPC)Tcp HET Middle aged adult 1.27×10-06
small adrenal glands Aladem1(IMPC)Tcp HET Early adult 0.00
enlarged urinary bladder Aladem1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to organogenesis Aladem1(IMPC)Tcp HOM   E9.5 0.00
prenatal lethality prior to heart atrial septation Aladem1(IMPC)Tcp HOM   E15.5 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

Eye Morphology

Images Slit Lamp

58 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

Eye Morphology

Images Slit Lamp

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 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 Lateral Orientation

10 Images

Histopathology

Images

17 Images

Histopathology

Images

3 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Eye Morphology

Images Ophthalmoscopy

6 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
Abnormal erythrocyte enzyme level, Myeloproliferative disorder 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
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
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 body anemia, Heinz bodies OMIM:140700
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia OMIM:232700
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Hypospadias, Renal salt wasting, Congenital adrenal hyperplasia OMIM:201710
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia OMIM:608898
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
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
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hype... OMIM:245900
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypercholesterolemia, Adrenal calcification, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger OMIM:618010
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Lymphadenopathy, Increased circulating ferritin concentration, Hemo... OMIM:603552
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:614480
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia OMIM:103900
Coronary Artery Disease, Autosomal Dominant 2
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... OMIM:612526
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Papular Xanthoma
Histiocytosis, Hyperlipidemia ORPHA:158008
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Neutral Lipid Storage Disease With Myopathy
Diabetes mellitus, Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase conce... OMIM:610717
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... OMIM:613101
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatomegaly, Aplas... OMIM:300635
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia ORPHA:71529
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypospadias, Renal salt wasting, Adrenal hyperplasia OMIM:201910
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:79085
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, A... ORPHA:404
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia, Increased urinary glycerol, Cryptorchidism, Hyp... OMIM:307030
Apolipoprotein C-Ii Deficiency
Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholesterolemia, Incr... OMIM:207750
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Hepatosplenomegaly, Arachnodactyly, Hypertriglyceridemia, Microc... OMIM:619013
Lcat Deficiency
Renal insufficiency, Hemolytic anemia, Acute kidney injury, Stage 5 chronic kidney disease, Decre... ORPHA:650
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hypertriglyceridemia, Increased serum leptin, Hyperlipidemia OMIM:617885
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Pyropoikilocytosis, Hereditary
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis OMIM:266140
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Adrenal hyperplasia, Polyuria... OMIM:613677
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin l... OMIM:615238
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypertriglyceridemia, Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:617575
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis OMIM:177000
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Familial Hyperaldosteronism Type I
Hypokalemia, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, D... ORPHA:403
Focal Segmental Glomerulosclerosis 1
Anemia, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomeruloscl... OMIM:603278
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... ORPHA:98870
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... OMIM:258900
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... OMIM:600995
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Adrenal insufficiency, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Adrena... OMIM:278000
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Precocious puberty, Small hand, Decreased testicular ... OMIM:616222
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... OMIM:618398
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:618620
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Left ventricular hypertrophy,... ORPHA:251274
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:435651
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... ORPHA:71275
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Lymphade... OMIM:267700
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatomegaly OMIM:608600
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Tangier Disease
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... OMIM:205400
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis OMIM:616959
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... ORPHA:567548
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Decreased serum leptin, Polycystic ovaries, D... ORPHA:435660
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Scrotal hypospadias, Elevated circulating 17-hydroxyprogesterone concentration, Hyponatremia, Mic... OMIM:201810
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Polycystic ovaries... OMIM:604367
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Bile duct proliferation, Splenomegaly, Hepatomegaly OMIM:613027
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Lymphadenopathy, Increased circ... ORPHA:158061
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr... OMIM:615947
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased circulating cortisol level, Decreased circulating ACT... OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Diabetes mellitus, Primary hypercortisolism, Adrenal hyperp... OMIM:615830
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... ORPHA:231580
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... ORPHA:247598
Hyperlipoproteinemia, Type I
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... OMIM:238600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy,... OMIM:603553
Smith-Magenis Syndrome
Brachydactyly, Abnormality of the thyroid gland, Hypercholesterolemia, Short palm, Hypertriglycer... OMIM:182290
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hypertriglyceridemia, Hepatomegaly ORPHA:363400
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... ORPHA:90791
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Diabetes mellitus, Hepatomegaly, Cryptorchidism, Hypertriglyceridemia OMIM:615381
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-s... ORPHA:369929
Alstrom Syndrome
Tubulointerstitial nephritis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased res... OMIM:203800
Mandibuloacral Dysplasia
Hyperinsulinemia, Increased circulating free fatty acid level, Acroosteolysis of distal phalanges... ORPHA:2457
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... ORPHA:189439
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Diabetes mellitus, Po... ORPHA:528
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating dehydroepiandrosterone-sulfate concentration, Humeroradial synostosis, Narr... ORPHA:95699
Fanconi-Bickel Syndrome
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Generalized aminoaciduri... ORPHA:2088
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia, Elevated plasm... OMIM:603471
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Maternal diabetes, Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Insulin-re... ORPHA:79083
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hypoalbuminemia, ... ORPHA:247585
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Slender long bone, Hydrocele testis, Congenital adrenal hyper... ORPHA:96181
Smith-Magenis Syndrome
Hypercholesterolemia, Hypothyroidism, Precocious puberty, Toe syndactyly, Hand polydactyly, Clino... ORPHA:819
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Hypertrigl... OMIM:617591
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:214900
Dysbetalipoproteinemia
Hypercholesterolemia, Hypothyroidism, Diabetes mellitus, Increased LDL cholesterol concentration,... ORPHA:412
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Abnormal renal physiology, Lymphadenopathy, Increased circulating f... ORPHA:540
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:2348
Seckel Syndrome 10
Glycosuria, Slender long bone, Diabetes mellitus, Metaphyseal widening, Elevated circulating lute... OMIM:617253
Xp21 Deletion Syndrome
Hypertriglyceridemia, Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating ... ORPHA:261476
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Cholesterol gallstones, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperchole... ORPHA:209902
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperch... OMIM:615812
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Hyperkale... ORPHA:90790
H Syndrome
Hypertriglyceridemia, Hallux valgus, Hypogonadism, Decreased testicular size, Enlarged kidney, Ca... ORPHA:168569
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Renal tubular acidosis, Abnormal erythrocyte enzyme level, Elevated circula... ORPHA:370
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... ORPHA:158048
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... ORPHA:231226
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Cryptor... OMIM:618183
Chylomicron Retention Disease
Hypocholesterolemia, Hypertriglyceridemia, Steatorrhea, Acanthocytosis ORPHA:71
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Anemia, Hypertriglyceridemia, Renal tubular acidosis, Abnormal erythrocyte enzyme level, Elevated... ORPHA:264580
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hypercholeste... ORPHA:470
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Hypertriglyceridemia, Renal tubular acidosis, Elevated circulating creatine kinase concen... ORPHA:79240
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia... ORPHA:275761
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Decre... ORPHA:280365
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Hypospadias, Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Polycystic ovaries, Insulin-resistant... ORPHA:79086
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... ORPHA:90041
Griscelli Syndrome Type 2
Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutropenia, Splen... ORPHA:79477
Nephrotic Syndrome, Type 1
Hypothyroidism, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diffuse mes... OMIM:256300
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Hyperlipidemia ORPHA:329249
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Chronic neutropenia, Anemia, Hypothyroidism, Hyperuricemia, Stage 5 chronic... ORPHA:79259
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... OMIM:618278
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Diabetes mellitus, Hyperlipidemia, Increased circulating chylomicron concentr... ORPHA:444490
Classical-Like Ehlers-Danlos Syndrome Type 2
Shoulder dislocation, Hallux valgus, Hip dislocation, Hammertoe, Abnormal toe morphology, Diabete... ORPHA:536532
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:232400
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Tangier Disease
Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Hypocholesterolemia, Chronic noninfecti... ORPHA:31150
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Upper limb undergrowth, Congenital megaureter, Precocious puberty, Slender long bone, Renal cyst,... ORPHA:369837
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovaries, Decreased ... OMIM:151660
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Microtriplication 11Q24.1
Genu valgum, Small hand, Clinodactyly of the 5th finger, Metatarsus adductus, Hyperlipidemia, Sho... ORPHA:289522
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism OMIM:277700
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated circulating creatine kinase concentration, Hepatomegaly, Hypertriglyce... OMIM:613327
Chédiak-Higashi Syndrome
Anemia, Hypertriglyceridemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Inc... ORPHA:167
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Proteinuria, Hyperlipidemia, Hepatomegaly ORPHA:369
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating... OMIM:615980
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Hepatomegaly, Abnormal ... ORPHA:98907
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Finger swelling, Hypertriglyceridemia, Elevated circulating thyroid-stim... OMIM:256040
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Hypersplenism, Acute promyelocytic leukemia, Autoimmune... ORPHA:77293
Mandibuloacral Dysplasia Progeroid Syndrome
Osteolytic defects of the phalanges of the hand, Genu valgum, Hypertriglyceridemia, Short femoral... OMIM:619127
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Adrenal gland agenesis OMIM:611812
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Anemia, Neutropenia, Abnormality of thyroid physiology, Microscopic ... ORPHA:1830
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Hyperlipidemia, Splenomegaly, Hepatomegaly ORPHA:1414
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly ORPHA:2969
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Decreased serum leptin, Polycys... OMIM:608594
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Anemia, Polysplenia, Lymphadenopathy, Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Splen... OMIM:619418
Alagille Syndrome 1
Vesicoureteral reflux, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal tubular ... OMIM:118450
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mellitus, Decr... OMIM:269700
19P13.12 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Finger syndactyly, Clinodactyly of the 5th finger, Toe clinod... ORPHA:254346
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Glycogen Storage Disease Ib
Hyperuricemia, Enlarged kidney, Focal segmental glomerulosclerosis, Delayed puberty, Pancreatic f... OMIM:232220
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Lymphopenia, Decreased proportion of CD4-... OMIM:619573
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Reticu... OMIM:235400
Hydrolethalus Syndrome 1
Upper limb undergrowth, Preaxial hand polydactyly, Proximal tibial hypoplasia, Duplication of pha... OMIM:236680
Tetraamelia Syndrome 1
Asplenia, Hypoplastic pelvis, Urethral atresia, Adrenal gland agenesis OMIM:273395
Cushing Disease
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating... ORPHA:96253
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Coxa valga, Acroosteolysis of distal phalanges (feet), Ca... OMIM:248370
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Pineal cyst, Diabetes mellitus, Hepatomegaly,... ORPHA:98908
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Hyperlipidemia, Ketonuria ORPHA:2089
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Hyperinsulinemia, Hypertriglyceridemia, Abnormal... ORPHA:79474
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short phalanx of finger, Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Stage 5 chr... OMIM:608612
Congenital Erythropoietic Porphyria
Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... ORPHA:79277
Wiedemann-Rautenstrauch Syndrome
Genu varum, Hypertriglyceridemia, Hypoplasia of the thymus, Hypoplastic ilia, Increased serum tes... OMIM:264090
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Decreased eosinophil count,... ORPHA:99889
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... ORPHA:157
Doors Syndrome
11 pairs of ribs, Triphalangeal thumb, Short 5th finger, Abnormal finger morphology, Aplasia/Hypo... ORPHA:79500
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly OMIM:619036
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... ORPHA:228308
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Splenomegaly, Hyperlipidemia ORPHA:90970
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, 2-3 toe syndactyly, Dilatation of renal calices, Short humerus, Short fe... ORPHA:3455
Glycogen Storage Disease Ia
Hyperuricemia, Enlarged kidney, Delayed puberty, Decreased glomerular filtration rate, Hepatomega... OMIM:232200
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Abnormal circulating fatty-acid concentration, Hepatomegaly, Cholelithiasis,... ORPHA:567983
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Glomerular sclerosis, Diabetes mellitus, Hyperlipidemia, Eleva... ORPHA:439232
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Hydrocele testis, Chronic kidn... ORPHA:567546
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Acroosteolysis of distal phalanges (feet), Calcinosis, Delayed pub... ORPHA:90154
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Aromatase Deficiency
Genu valgum, Enlarged polycystic ovaries, Type II diabetes mellitus, Macroorchidism, postpubertal... ORPHA:91
Craniorachischisis
Bifid sternum ORPHA:63260
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hematuria, Hyperlipidemia ORPHA:35909
Glycogen Storage Disease Ic
Hyperuricemia, Hematuria, Delayed puberty, Decreased glomerular filtration rate, Cyclic neutropen... OMIM:232240
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Diabet... OMIM:241080
Mandibuloacral Dysplasia With Type A Lipodystrophy
Acroosteolysis of distal phalanges (feet), Breast aplasia, Osteolytic defects of the distal phala... ORPHA:90153
Proteus Syndrome
Metatarsus valgus, Macroorchidism, Diabetes insipidus, Neoplasm of the thymus, Hallux valgus, Abn... ORPHA:744
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... ORPHA:3464
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Type I diabetes mellitus, Hypercholesterolemia OMIM:606721
Primary Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hepatomegaly, Hyperlipidem... ORPHA:565612
Familial Multiple Lipomatosis
Bowing of the long bones, Hyperlipidemia ORPHA:199276
Alström Syndrome
Hepatosplenomegaly, Glomerulonephritis, Decreased circulating T4 concentration, Hepatomegaly, Hyp... ORPHA:64
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Fabry Disease
Diabetes insipidus, Anemia, Abnormal circulating lipid concentration, Nephrotic syndrome, Left ve... ORPHA:324
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... ORPHA:293987
Turner Syndrome Due To Structural X Chromosome Anomalies
Short 4th metacarpal, Increased circulating gonadotropin level, Abnormal forearm bone morphology,... ORPHA:99413
Turner Syndrome
Short 4th metacarpal, Increased circulating gonadotropin level, Abnormal forearm bone morphology,... ORPHA:881
Mosaic Monosomy X
Short 4th metacarpal, Increased circulating gonadotropin level, Abnormal forearm bone morphology,... ORPHA:99228
Monosomy X
Short 4th metacarpal, Increased circulating gonadotropin level, Abnormal forearm bone morphology,... ORPHA:99226
Coffin-Lowry Syndrome
Coxa valga, Tapered finger, Short metacarpal, Hyperextensibility of the finger joints, Narrow ili... OMIM:303600
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Renal artery stenosis, Hypercholesterolemia ORPHA:391665
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Myeloproliferative disorder 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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