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Gene: Alad MGI:96853

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Gene Summary

Name:
aminolevulinate, delta-, dehydratase
Synonyms:
Lv

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
increased circulating triglyceride level Aladem1(IMPC)Tcp HET   Early adult 1.05×10-05
prenatal lethality prior to heart atrial septation Aladem1(IMPC)Tcp HOM   E15.5 0.00
decreased grip strength Aladem1(IMPC)Tcp HET Middle aged adult 1.27×10-06
enlarged urinary bladder Aladem1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Aladem1(IMPC)Tcp HET Early adult 0.00
small adrenal glands Aladem1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Aladem1(IMPC)Tcp HOM   Early adult 0.00
enlarged thymus Aladem1(IMPC)Tcp HET Early adult 0.00
decreased mean platelet volume Aladem1(IMPC)Tcp HET   Early adult 2.14×10-05
decreased red blood cell distribution width Aladem1(IMPC)Tcp HET Late adult 5.59×10-06

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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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

147 Images

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Eye Morphology

Images Slit Lamp

58 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

9 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

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3 Images

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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
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Erythroid hypoplasia, Anemia OMIM:618312
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia 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
Sideroblastic anemia, Abnormal erythrocyte morphology 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
Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia OMIM:140700
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... ORPHA:67044
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... ORPHA:3203
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Granulocytopenia OMIM:608898
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Anemia, Bone-marrow foam cells, Hepatomegaly, Sea-blue h... OMIM:607616
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia OMIM:232700
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Reticulocytosis, Anemia, Anemia of inadequate production, Erythroid hyperplasia, Po... OMIM:615631
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholester... OMIM:245900
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Lymphadenopathy, ... OMIM:603552
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:136120
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
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
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... OMIM:300835
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting, Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Lymphadenop... OMIM:613101
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Cholesteryl Ester Storage Disease
Adrenal calcification, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Thrombocytopenia 1
Congenital thrombocytopenia, Intermittent thrombocytopenia, Decreased mean platelet volume OMIM:313900
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... ORPHA:86841
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:614480
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger OMIM:618010
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Lymphocytosis, Decreased mean platel... OMIM:617718
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... OMIM:155100
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus OMIM:610947
Myh9-Related Disease
Proteinuria, Congenital thrombocytopenia, Renal insufficiency, Nephropathy, Giant platelets, Incr... ORPHA:182050
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, ... OMIM:612526
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome OMIM:103900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Erythro... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Ery... OMIM:224120
Sitosterolemia 1
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... OMIM:210250
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hypertriglyceridemia, Pancytopenia, Increased ci... OMIM:300635
Neutral Lipid Storage Disease With Myopathy
Diabetes mellitus, Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase conce... OMIM:610717
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Increased mean platelet volume, Impaired ADP-ind... OMIM:617443
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Abnormal renal physiology, Hemophagocytosis, Anemia, Acute lymphoblastic leuk... ORPHA:158057
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Absent microvilli on the surface of p... OMIM:301000
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Proteinuria, Acute kidney injury, Stage 5... ORPHA:650
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypopituitarism, Microcytic anemia, Hypertriglyceridemia, Hypothyroidism, Ara... OMIM:619013
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hemolytic anemia OMIM:177000
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Anemia, Hypertriglyceridemia, Pancytopenia, Increased circulating ferritin conc... OMIM:618398
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Polydactyly, Abnormality of neutrophils, Short 4th metacar... OMIM:169400
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Hypercholesterolemia, Bo... OMIM:278000
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Hemolytic anemia, Stomatocytosis, Thrombocytope... OMIM:153670
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hyperinsulinemia, Hypertriglyceridemia, Abnormal circulating hormone concentr... ORPHA:280356
Slc35A1-Cdg
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia ORPHA:238459
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Po... OMIM:300908
Nephrotic Syndrome, Type 14
Proteinuria, Cryptorchidism, Micropenis, Hypogonadism, Diffuse mesangial sclerosis, Stage 5 chron... OMIM:617575
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II conce... OMIM:207750
Pyropoikilocytosis, Hereditary
Microspherocytosis, Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia OMIM:266140
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin, D... ORPHA:79085
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, H... OMIM:267700
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ... ORPHA:404
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201910
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad... ORPHA:66628
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Orotic Aciduria
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... OMIM:258900
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... OMIM:615558
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Abnormal natural killer cell count,... ORPHA:158061
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad... ORPHA:179494
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Secretory adrenocortical adenoma, D... ORPHA:403
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hepatomegaly, Hypertriglyceridemia, Decreased serum leptin, Diabetic k... OMIM:615238
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Increased circu... ORPHA:3453
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Hypokalemia, Hypercalciuria, Polyuria, Decreased circula... OMIM:613677
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Camptodactyly, Cryptorchidism, Ulnar deviation of finger, Anemia, Left ventricula... OMIM:611209
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Reduced erythrocyte adenosine triphosphate concentration, Stom... OMIM:301083
Temple Syndrome
Decreased testicular size, Cryptorchidism, Hypercholesterolemia, Hypertriglyceridemia, Small hand... OMIM:616222
Erythrocytosis, Familial, 3
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:609820
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Elevated circulating apolipoprotein A-II ... OMIM:205400
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Hypochromia, Macrocytic anem... ORPHA:71275
Nephrotic Syndrome, Type 2
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyperlipidemia, Focal segmental ... OMIM:600995
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hypokalemia, Hyper... ORPHA:251274
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin, D... ORPHA:435651
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Isolated Anencephaly
Maternal diabetes, Adrenal hypoplasia, Thymus hyperplasia ORPHA:563609
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Anemia, Reduced renal corticomedullary differentiati... OMIM:603278
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Bile duct proliferation, Hepatomegaly, Splenomegaly OMIM:613027
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Hyponatr... OMIM:603553
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Proteinuria, Acute kidney injury, Diffuse mesangial scl... ORPHA:567548
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperuricemia, Polycystic ovaries, Hyperinsulinemia, Hypertriglyceridemia, Dec... OMIM:604367
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrigly... ORPHA:435660
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Increased circulating p... ORPHA:90793
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Impaired cortisol response to corticotropin releasing hormone stimulation test, Adrenal hyperplas... OMIM:201810
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Slender long bone, Thrombocytopenia, Hydrocele testis, Congen... ORPHA:96181
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hepatomegaly, Hypertriglyceridemia... OMIM:615947
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Anemia, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia, Lymph... OMIM:617591
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Decreased ci... OMIM:219080
Takenouchi-Kosaki Syndrome
Hydronephrosis, Camptodactyly, Cryptorchidism, Proximal placement of thumb, Overlapping toe, Unil... OMIM:616737
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thromboc... ORPHA:540
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron conce... OMIM:238600
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... OMIM:615954
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Hypokalemia, Glucocortocoid-insensitive primary... ORPHA:231580
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Hyperproteinemia, Hepatomegaly, Hypertriglyceridemia, Abnormal natural ... ORPHA:158048
Lathosterolosis
Hepatosplenomegaly, Postaxial foot polydactyly, Anisopoikilocytosis, Horseshoe kidney, Acanthocyt... OMIM:607330
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Hyperinsulinemia ORPHA:363400
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypertriglyceridemia, Short palm, Hypercholesterolemia, Brachyd... OMIM:182290
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Hyperuricemia, Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Hypertrigl... ORPHA:79083
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal metacarpophalangeal joint morphology, Metatarsal synostosis, Elevated c... ORPHA:95699
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Increased se... ORPHA:90791
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, Male hypogonadism OMIM:615381
Alstrom Syndrome
Hyperuricemia, Tubulointerstitial nephritis, Multinodular goiter, Diabetes insipidus, Renal insuf... OMIM:203800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hyperaldosteronism, Abnormal circulating renin, Hypokalemia, Nephrolithiasis... ORPHA:369929
Mandibuloacral Dysplasia
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... ORPHA:2457
Congenital Generalized Lipodystrophy
Diabetes mellitus, Polycystic ovaries, Precocious puberty in females, Increased C-peptide level, ... ORPHA:528
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Decreased circulati... ORPHA:189439
Seckel Syndrome 10
Glycosuria, Metaphyseal widening, Diabetes mellitus, Elevated circulating follicle stimulating ho... OMIM:617253
Citrullinemia Type Ii
Enuresis, Hypoproteinemia, Acute hyperammonemia, Hepatomegaly, Elevated plasma citrulline, Hypert... ORPHA:247585
Fanconi-Bickel Syndrome
Hypophosphatemia, Nephrocalcinosis, Glycosuria, Diabetes mellitus, Hepatomegaly, Nephropathy, Hyp... ORPHA:2088
Smith-Magenis Syndrome
Delayed puberty, Hand polydactyly, Precocious puberty, Abnormality of the ureter, Brachydactyly, ... ORPHA:819
Citrullinemia, Type Ii, Adult-Onset
Hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Argininosuccinic aciduria, Hype... OMIM:603471
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:2348
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimulation test, Increa... ORPHA:189427
Trichohepatoenteric Syndrome 1
Renal cortical microcysts, Avascular necrosis of the capital femoral epiphysis, Galactosuria, Hyp... OMIM:222470
Bernard-Soulier Syndrome
Macrothrombocytopenia, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced plate... ORPHA:274
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Acanthocytosis ORPHA:71
Lysinuric Protein Intolerance
Oroticaciduria, Hemophagocytosis, Hyperlysinuria, Decreased glomerular filtration rate, Hyperalan... ORPHA:470
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, D... ORPHA:412
H Syndrome
Hepatosplenomegaly, Delayed puberty, Camptodactyly, Decreased testicular size, Hallux valgus, Mic... ORPHA:168569
Syndromic Diarrhea
Hypoplasia of the thymus, Polycystic kidney dysplasia, Hepatomegaly, Lymphopenia, Increased mean ... ORPHA:84064
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Finger clinodactyly, Hypertriglyceridemia, Ad... ORPHA:261476
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypercholesterolemia, Anemia, Polycystic ovaries, Hepatomegaly, Elevated circula... ORPHA:264580
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Delayed puberty, Hypercholesterolemia, Polycystic ovaries, Hepatomegaly, Elevated circulating cre... ORPHA:370
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Decrease... OMIM:202010
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, Spherocytos... OMIM:612690
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Anemia, Polycystic ovaries, Hepatomegaly, Elevated circulating creatine kin... ORPHA:79240
Gaisböck Syndrome
Increased red blood cell count, Increased circulating renin level, Increased mean corpuscular hem... ORPHA:90041
Tangier Disease
Hepatosplenomegaly, Anemia, Left ventricular hypertrophy, Hypertriglyceridemia, Chronic noninfect... ORPHA:31150
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Cholesterol gallstones, Hyperchole... ORPHA:209902
Griscelli Syndrome Type 2
Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Lymphadenopathy, Pancytopenia, Splenomegaly, Neut... ORPHA:79477
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Increased circulating ACTH level, Abnormal circulating androgen level, Hyper... ORPHA:90790
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Hepatosplenomegaly, Abnormal urine potassium concentration, Hypernatriuri... ORPHA:275761
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231226
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Camptodactyly, Proximal placement of thumb, Overlapping toe, Unilateral renal age... ORPHA:487796
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hepatosplenomegaly, Hypoproteinemia, Hemophagocytosis, Anemia, Abnormal p... ORPHA:167
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, H... OMIM:618183
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Acroosteolysis of distal phalanges (feet), Diabetes mellitus, Polycystic ovaries, Hepatomegaly, O... ORPHA:280365
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Aminoac... OMIM:603585
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Delayed puberty, Proteinuria, Hyperuricemia, Nephrocalcino... ORPHA:79259
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Increased circulating ACTH level, Increased circulating cortisol level, Decr... ORPHA:786
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism OMIM:277700
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Proteinuria, Polycystic ovaries, Hepatomegaly, Hyperins... ORPHA:79086
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Decreased testicular size, Hypercholesterolemia, Hypospadias OMIM:610644
Chronic Visceral Acid Sphingomyelinase Deficiency
Delayed puberty, Abnormal circulating lipid concentration, Increased LDL cholesterol concentratio... ORPHA:77293
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Histiocytosis, B lymphocytopenia, Hepatosplenomegaly, Aplastic anemia, Granulom... ORPHA:2442
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Increased circulatin... ORPHA:444490
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia ORPHA:329249
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperinsulinemia, Hypertriglyce... OMIM:613327
Nephrotic Syndrome, Type 1
Hypoproteinemia, Proteinuria, Diffuse mesangial sclerosis, Hypothyroidism, Renal insufficiency, H... OMIM:256300
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Hip dislocation, Hallux valgus, Diabetes mellitus, Abnormal toe morphology, Shoul... ORPHA:536532
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrom... OMIM:235400
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98855
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:232400
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Finger swelling, Hallux valgus, Flexion contracture of toe, Hypoplastic ... OMIM:256040
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration, Hepatomegaly, Abnormal ... ORPHA:98907
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Renal cyst, Hypoparathyroidism, Congenital megaureter, Slender long bone, Hyper... ORPHA:369837
Microtriplication 11Q24.1
Hyperlipidemia, Metatarsus adductus, Small hand, Short foot, Genu valgum, Clinodactyly of the 5th... ORPHA:289522
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hypertriglyceridemia, Decreased HDL cholester... OMIM:151660
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:261
Glycerol Kinase Deficiency
Cryptorchidism, Increased urinary glycerol, Hypertriglyceridemia, Adrenal insufficiency, Hypergly... OMIM:307030
Mandibuloacral Dysplasia Progeroid Syndrome
Proteinuria, Decreased fibular diameter, Left ventricular hypertrophy, Thin ribs, Dysplasia of th... OMIM:619127
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Proteinuria, Wide capital femoral epiphyses, Microscop... ORPHA:1830
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Proteinuria, Hyperlipidemia, Hepatomegaly ORPHA:369
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Anemia, Hepatomegaly, Polysplenia, Hypertriglyceridemia, Lymphadenopathy, Accessory spleen, Splen... OMIM:619418
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Cervical lymphadenopathy, Hemolytic anemia, Autoimmune hemolytic anemia,... OMIM:619573
Bleeding Disorder, Platelet-Type, 17
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Absence of alpha granul... OMIM:187900
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Abnormality of urine homeostasis, Hepatomegaly, Splenomegaly ORPHA:1414
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Hypospadias OMIM:611812
Lipodystrophy, Congenital Generalized, Type 2
Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hypertriglyceridemia, Nephrolithiasis, Type I... OMIM:269700
Proteus-Like Syndrome
Polycystic ovaries, Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia ORPHA:2969
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hypertriglyceridemia, Neph... OMIM:608594
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Alagille Syndrome 1
Short distal phalanx of finger, Stage 5 chronic kidney disease, Renal artery stenosis, Papillary ... OMIM:118450
Glycogen Storage Disease Ib
Delayed puberty, Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rat... OMIM:232220
19P13.12 Microdeletion Syndrome
Cryptorchidism, Precocious puberty, Finger syndactyly, Hyperlipidemia, Short palm, Hypothyroidism... ORPHA:254346
Tetraamelia Syndrome 1
Adrenal gland agenesis, Urethral atresia, Asplenia, Hypoplastic pelvis OMIM:273395
Hydrolethalus Syndrome 1
Hydronephrosis, Adrenal gland dysgenesis, Postaxial hand polydactyly, Duplication of phalanx of h... OMIM:236680
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Cushing Disease
Adrenal hyperplasia, Increased circulating ACTH level, Leukocytosis, Diabetes mellitus, Increased... ORPHA:96253
Doors Syndrome
Adrenal hyperplasia, Short distal phalanx of finger, Hydronephrosis, Nephrocalcinosis, Abnormal f... ORPHA:79500
Neutral Lipid Storage Myopathy
Diabetes mellitus, Hepatomegaly, Abnormal circulating creatine kinase concentration, Hypertriglyc... ORPHA:98908
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Diabetes mellitus, Increased circulating cortisol level, Medullary thyroid carcinom... ORPHA:99889
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Arachnodactyly, Thymus hyperplasia OMIM:619036
Atypical Werner Syndrome
Neoplasm of the thyroid gland, Delayed puberty, Hip dysplasia, Hypogonadism, Glycosuria, Diabetes... ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy
Down-sloping shoulders, Short distal phalanx of finger, Camptodactyly, Acroosteolysis of distal p... OMIM:248370
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Short humerus, Increased serum testosterone level, Hypoplastic ilia, Cr... OMIM:264090
Congenital Erythropoietic Porphyria
Anisocytosis, Reticulocytosis, Leukopenia, Hemolytic anemia, Thrombocytopenia, Erythroid hyperpla... ORPHA:79277
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... OMIM:608612
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Ketonuria, Glycosuria ORPHA:2089
Primary Lipodystrophy
Polycystic ovaries, Hyperlipidemia, Type II diabetes mellitus, Splenomegaly ORPHA:90970
Carnitine Palmitoyltransferase Ii Deficiency
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased plasma free carnitine, Tub... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polycystic kidney dysplasia, Hyperammonemia, Decreased plasma free carnitine, Tubulointerstitial ... ORPHA:228308
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Hyper... ORPHA:567983
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Hip dysplasia, Thin long bone diaphyses, Long fingers, Dilatation of ren... ORPHA:3455
Glycogen Storage Disease Ia
Delayed puberty, Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rat... OMIM:232200
Aapoaiv Amyloidosis
Proteinuria, Chronic kidney disease, Diabetes mellitus, Hyperlipidemia, Glomerular sclerosis, Abn... ORPHA:439232
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Short distal phalanx of finger, Acroosteolysis of distal phalanges (feet), Osteo... ORPHA:90154
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Microscopic hematuria, Stage 5 chronic kidney disease, Chronic kidney disease, Macroscopic hematu... ORPHA:567546
Glycogen Storage Disease Ic
Delayed puberty, Proteinuria, Hyperuricemia, Decreased glomerular filtration rate, Renal insuffic... OMIM:232240
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Delayed epiphyseal ossification, Hyperlipidemia, ... ORPHA:91
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Primary Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Diabetes mellitus, Hepatomegaly, Elevated circulating creatine kinase con... ORPHA:565612
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Acroosteolysis of distal phalanges (feet), Osteolytic defects of ... ORPHA:90153
Proteus Syndrome
Hallux valgus, Hip dislocation, Renal cyst, Abnormal finger morphology, Finger syndactyly, Macrod... ORPHA:744
Craniorachischisis
Bifid sternum ORPHA:63260
Woodhouse-Sakati Syndrome
Decreased testicular size, Micropenis, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevate... OMIM:241080
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Type I diabetes mellitus, Hypercholesterolemia OMIM:606721
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased testicular size, Micropenis, Hypogonadism, Decreased response to growt... ORPHA:3464
Familial Multiple Lipomatosis
Hyperlipidemia, Bowing of the long bones ORPHA:199276
Fabry Disease
Delayed puberty, Abnormal circulating lipid concentration, Proteinuria, Anemia, Left ventricular ... ORPHA:324
Alström Syndrome
Urinary retention, Hepatomegaly, Hyperinsulinemia, Puberty and gonadal disorders, Elevated circul... ORPHA:64
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Enuresis, Delayed puberty, Increased circulating prolactin concentration, Central hypothyroidism,... ORPHA:293987
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hip dysplasia, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Sho... ORPHA:99413
Turner Syndrome
Delayed puberty, Hip dysplasia, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Sho... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Hip dysplasia, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Sho... ORPHA:99228
Monosomy X
Delayed puberty, Hip dysplasia, Abnormality of the ovary, Horseshoe kidney, Hyperinsulinemia, Sho... ORPHA:99226
Coffin-Lowry Syndrome
Bifid sternum, Coxa valga, Short metacarpal, Tapered finger, Narrow iliac wing, Drumstick termina... OMIM:303600
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Hypercholesterolemia 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.

Order Mouse and ES Cells

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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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