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Gene: Dpp8 MGI:1921638

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Gene Summary

Name:
dipeptidylpeptidase 8
Synonyms:
2310004I03Rik,  4932434F09Rik

Order Alleles

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
increased mean corpuscular volume Dpp8em1(IMPC)J HOM Early adult 3.46×10-07
increased mean corpuscular hemoglobin Dpp8em1(IMPC)J HOM Early adult 2.19×10-06
increased total body fat amount Dpp8em1(IMPC)J HOM Early adult 1.74×10-12
decreased heart rate Dpp8em1(IMPC)J HOM Early adult 2.34×10-06
decreased vertical activity Dpp8em1(IMPC)J HOM Early adult 3.15×10-06
decreased bone mineral content Dpp8em1(IMPC)J HOM Early adult 1.38×10-24
decreased bone mineral density Dpp8em1(IMPC)J HOM Early adult 6.18×10-07
decreased circulating calcium level Dpp8em1(IMPC)J HOM Early adult 2.15×10-11
decreased heart weight Dpp8em1(IMPC)J HOM   Early adult 2.09×10-05
abnormal auditory brainstem response Dpp8em1(IMPC)J HOM   Early adult 7.56×10-05
prolonged RR interval Dpp8em1(IMPC)J HOM Early adult 1.76×10-08
abnormal bone structure Dpp8em1(IMPC)J HOM Early adult 3.54×10-15
decreased lean body mass Dpp8em1(IMPC)J HOM Early adult 9.08×10-13
impaired glucose tolerance Dpp8em1(IMPC)J HOM Early adult 9.43×10-06

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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 Forepaw

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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X-ray

XRay Images Skull Lateral Orientation

6 Images

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Electroretinography 3

Fundus file

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Dpp8 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dpp8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment OMIM:614896
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Sple... OMIM:612526
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Tracheo... OMIM:612561
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Os... OMIM:610947
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Hypertensi... ORPHA:2169
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th... ORPHA:3319
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology DECIPHER:16
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteo... ORPHA:53
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... OMIM:601005
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Pancytopenia, Osteomyelitis, Facial palsy, Craniosynostosis, Thro... OMIM:259700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hyperalaninemia, Hypoglycemia, Congestive heart failure, Bradycardia, Le... OMIM:619048
Autoimmune Hypoparathyroidism
Prolonged QT interval, Increased bone mineral density, Abnormal left ventricular function, Hypoca... ORPHA:36913
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... ORPHA:26793
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... ORPHA:98870
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... OMIM:300946
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Gait disturbance, Hypocalcemia, Abnorma... ORPHA:93160
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... OMIM:601419
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Macrotia, Atrioventricular block, Prominent antihelix, Glucose intole... OMIM:614407
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyper... OMIM:614702
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, EEG abnormality, Bradycardia, Hypertrophic cardiomyo... OMIM:618815
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase conce... OMIM:212138
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... ORPHA:231222
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Osteopor... OMIM:612562
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Bradycardia, Lethargy, Neonat... ORPHA:95717
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Cln3 Disease
Ataxia, Vacuolated lymphocytes, Optic atrophy, Bradykinesia, T-wave inversion, Bradycardia, Shuff... ORPHA:228346
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... ORPHA:101016
Necrotizing Enterocolitis
Shock, Hyponatremia, Small for gestational age, Leukocytosis, Abnormal heart morphology, Bradycar... ORPHA:391673
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Bone cyst, Hypercalcemia, Anemia ORPHA:2668
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Hearing impairment OMIM:616277
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Failure to thrive, Hypoglycemia, Hypocalcemia ORPHA:163693
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:264700
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Cup... OMIM:617052
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid conc... OMIM:619658
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... ORPHA:97214
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
X-Linked Agammaglobulinemia
Osteomyelitis, Cellulitis, Sensorineural hearing impairment, Weight loss, Anemia, Arthritis, Hypo... ORPHA:47
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevat... OMIM:613327
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestat... ORPHA:324575
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Failure to thrive, Bradycardia, Cardiac arrest OMIM:618235
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcem... OMIM:212750
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... OMIM:615745
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Sensorineural hearing impairment, Umbilical her... ORPHA:95716
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Cardiomyopathy, ... ORPHA:746
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A... ORPHA:358
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, H... ORPHA:811
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperpho... ORPHA:94089
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... OMIM:185000
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Oste... OMIM:606069
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... ORPHA:94090
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231214
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizure... ORPHA:276580
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Mildly elevated creatine kinase OMIM:620265
Majeed Syndrome
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... OMIM:609628
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... OMIM:127550
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Bradycardia OMIM:609924
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Cardiomyopathy, Progressive hearing impairment, Gait disturbance, Bradycardia,... OMIM:609286
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... ORPHA:848
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva... ORPHA:542306
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati... OMIM:618775
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io... ORPHA:31824
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:612462
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Oslam Syndrome
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag... OMIM:127000
Double Outlet Right Ventricle
Tachycardia, Failure to thrive, Ventricular septal defect, Abnormality of cartilage of external e... ORPHA:3426
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Fa... OMIM:259720
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm... ORPHA:330001
Ravine Syndrome
Failure to thrive, Ataxia, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... OMIM:616299
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circul... ORPHA:276575
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Hypotonia-Cystinuria Syndrome
Failure to thrive, Posteriorly rotated ears, Facial palsy, Hypocalcemia, Macrotia, Neonatal hypog... OMIM:606407
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, EEG with burst suppression, Optic atrophy, Abnormal autonomic nervous system phy... OMIM:614498
Autosomal Dominant Hypocalcemia
Congestive heart failure, Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocal... ORPHA:428
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal scle... OMIM:618476
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Familial Isolated Hypoparathyroidism
Arrhythmia, Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Osteomyelitis, Fasciitis, Elevated circulating creatine kinase concentration,... ORPHA:36234
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Hyperalaninemia, Bradycardia OMIM:614654
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Bradycardia, Umbilical hernia, Absent... ORPHA:226313
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased c... ORPHA:276556
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Hyp... ORPHA:173
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, Congenital foot contractu... ORPHA:565624
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Protruding ear, Mitral... ORPHA:261250
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Craniosynostosis, Anemia ORPHA:436
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Small for gestational age, Pure red cell aplas... ORPHA:124
Glutamine Deficiency, Congenital
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Low-set ears, Camptodactyly OMIM:610015
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Low-... ORPHA:1438
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Non-Functioning Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Cranial nerve c... ORPHA:94080
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Macrocytic anemia, Failure to thrive, E... ORPHA:199299
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Congestive heart... ORPHA:247353
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Increased bone mineral density, Sensorineural hearing impairme... ORPHA:79443
Oculoskeletodental Syndrome
Hypercalcemia, Sensorineural hearing impairment, Hypocalcemia, Conductive hearing impairment, Ena... ORPHA:557003
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Gait disturbance, Hypocalc... ORPHA:352540
Tetanus
Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Hypertension, Bradyc... ORPHA:3299
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Low-set ears, H... OMIM:241410
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Rhabdoid Tumor
Hypercalcemia, Weight loss, Anemia, Hypertension, Internal hemorrhage, Thrombocytopenia ORPHA:69077
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hyponatremia, Calcinosis, Inability to walk, Splenomegaly, Optic atrophy, Hypertensio... OMIM:617913
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walkin... ORPHA:99845
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Oculoskeletodental Syndrome
Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Lacunar stroke... OMIM:618440
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... ORPHA:1215
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aganglionic megacolon, Heart bl... ORPHA:175
Gracile Bone Dysplasia
Asplenia, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure to thrive OMIM:602361
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hy... ORPHA:79444
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Acitretin/Etretinate Embryopathy
Cupped ear, Conotruncal defect, Microtia, Hypoplasia of the thymus, Third degree atrioventricular... ORPHA:40366
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aplasia/Hypoplasia... ORPHA:2306
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Abnormal pinna morphology, Hypoglycemia, Sensorineural hearing impairm... OMIM:607143
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Craniosynostosis, Recurrent fractures, Splenomegaly, Reduced... ORPHA:667
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Osteoporosi... OMIM:620351
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Pearson Syndrome
Reticulocytosis, Pancytopenia, Diabetes mellitus, Ataxia, Small for gestational age, Cardiac cond... ORPHA:699
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
D-Glyceric Aciduria
Hypoglycemia, Optic nerve hypoplasia, Sensorineural hearing impairment, Nonketotic hyperglycinemi... OMIM:220120
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Inguinal hernia, Small for gestational age, Hypoglycemia,... OMIM:613658
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Lethargy, Thrombocytopenia OMIM:617397
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypsarrhythmia, Bradycardia,... OMIM:610768
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Patchy osteosclerosis, Exte... ORPHA:2323
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract... OMIM:241500
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ... ORPHA:31826
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis ORPHA:99879
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Low-set ears, Hypercalcemia, Craniosynostosis OMIM:614732
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemochromatosis, Type 1
Diabetes mellitus, Cardiomegaly, Congestive heart failure, Splenomegaly, Increased circulating fe... OMIM:235200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th... ORPHA:37042
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia... ORPHA:276608
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, ... ORPHA:466650
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt... ORPHA:2785
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... OMIM:616812
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Umbi... ORPHA:90673
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Th... ORPHA:90051
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal dental enamel morphology, Obesity,... ORPHA:251004
Proximal Spinal Muscular Atrophy
Multiple joint contractures, Inability to walk, Flexion contracture, Elbow flexion contracture, K... ORPHA:70
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Obesity, Subcutaneous ossification, Hyperphosphatemia, Hypocalcemic tetany, Enamel ... OMIM:103580
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Ellipto... OMIM:616959
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Chondrocalcinosis ORPHA:2591
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... ORPHA:94086
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... ORPHA:860
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Hypercalcemia, Diabetes mel... ORPHA:249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Hypercholesterolemia, Delayed proximal femoral epiphyseal ossification, Umbili... ORPHA:90674
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Waddling gait, Hypercalcemia, Knee flexion contracture, Hypophosphat... OMIM:156400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Ventricular septal defect, Posteriorly rotated ears, Thr... ORPHA:163979
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Failure to thrive, Bradycardia OMIM:619272
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Castleman Disease
Myelofibrosis, Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Decrea... ORPHA:160
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Ventricular septal defect, Splenomegaly, Hypocalcemia, Low-set ears, Hypoprotein... OMIM:235255
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Lethargy, Abnorm... ORPHA:99826
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Hypsarrhythmia, Congenital contracture, Type I diabetes m... OMIM:618397
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Sensorineural hearing impairment, Obesity, N... ORPHA:91355
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Glossopharyngeal Neuralgia
Cranial nerve compression, Jaw claudication, Weight loss, Abnormal glossopharyngeal nerve morphol... ORPHA:221098
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Myocarditis, Leukocytosis, Thrombocytopenia, H... ORPHA:544482
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... ORPHA:73224
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Conductive hearing impairment, Atrial septal defect, Smal... ORPHA:567
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Cranial nerve c... ORPHA:276621
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor... OMIM:614653
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Failure to thrive, Small for gestational age, Rec... OMIM:193700
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Glycosuri... ORPHA:411634
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hematochezia, Hypoalbuminemia, Hypocalc... OMIM:618183
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Low-s... ORPHA:1655
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Foot joint contracture, Scarring, Macrotia, Optic at... ORPHA:90321
Liver Disease, Severe Congenital
Cardiomegaly, Abnormal left ventricular function, Leukopenia, Lymphocytosis, Hypocalcemia, Elevat... OMIM:619991
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... ORPHA:263455
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:277440
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Lujo Hemorrhagic Fever
Shock, Stiff neck, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytos... ORPHA:319213
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Addison Disease
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Failure to thrive, Hypoglycemia, Hyperc... ORPHA:85138
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529799
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Card... OMIM:618278
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Flexion ... OMIM:613870
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Cortical thickening of long bone diaphyses, Hypocalcemic seizures, Hyperphosphatemia... ORPHA:93325
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling... ORPHA:52368
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Monosomy 13Q34
Posteriorly rotated ears, Hypercalcemia, Epistaxis, Insulin resistance, Obesity, Abnormal earlobe... ORPHA:96168
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, Pericardial effusion, Splenomegaly, External ear malfo... ORPHA:2136
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Optic nerve hypoplasia, Overweight, Delayed proximal femoral epiphyseal ossificatio... ORPHA:226307
Encephalitis Lethargica
Lethargy, Stiff neck, Bradycardia ORPHA:83600
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Myocardial... ORPHA:95409
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Cardiomegaly, Inability to walk, Limitation of joint mobility,... ORPHA:97297
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... ORPHA:99827
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Flexion contracture, Knee flexion contracture, Hypocalce... OMIM:619503
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Multifocal epileptifo... ORPHA:369837
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Joint contracture, Failure... OMIM:616881
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Hypophosphatemia, Failure to thrive... OMIM:239200
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Ataxia, Small for gestational age, Abnormal auditory evoked ... OMIM:133540
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... ORPHA:29073
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Low-set ears, Truncal ata... OMIM:617101
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Cranial nerve c... ORPHA:29072
Cranioectodermal Dysplasia 1
Joint laxity, Inguinal hernia, Bicuspid aortic valve, Sagittal craniosynostosis, Osteoporosis, Pr... OMIM:218330
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Abnormal heart morphology, Hypocalcemia, Progressive sensorineural hearing imp... ORPHA:2237
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... ORPHA:99027
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal... OMIM:216400
Hereditary Methemoglobinemia
Small for gestational age, Athetosis, Methemoglobinemia ORPHA:621
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia, Weight loss ORPHA:97289
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia, Epistaxis ORPHA:90042
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Velocardiofacial Syndrome
Inguinal hernia, Ventricular septal defect, Hypocalcemia, Umbilical hernia, Tetralogy of Fallot OMIM:192430
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Microcytic anemia, Flexion contracture, Aplasia/Hypoplasia of ... ORPHA:98791
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... ORPHA:71275
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Osteoporosis, Abnormal blood ion concentration, Bradycardia, Enamel hypop... ORPHA:79404
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... ORPHA:405
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171300
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Craniofacioskeletal Syndrome
Ventricular septal defect, Posteriorly rotated ears, Microtia, Hypocalcemia, Atrial septal defect OMIM:300712
Parathyroid Carcinoma
Hypercalcemia, Shortened QT interval, Osteoporosis, Weight loss, Hypophosphatemia, Lipoma, Chondr... ORPHA:143
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... OMIM:601678
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hypokalemia, Palpitations, Weight loss OMIM:188580
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Cranial hyperostosis, Imbalan... ORPHA:330015
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Optic ne... OMIM:612301
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Bradycardia, Neutropenia, Failure to thrive, Neonatal hypoglycemia OMIM:617248
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Overweight, Persistence of hemoglobin F, Atrial septal ... OMIM:619769
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Umbilical hernia, Bradycardia, Hyperbilirubinemia, Let... OMIM:218700
Yellow Fever
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... ORPHA:99829
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Shortened QT interval, Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis ORPHA:99880
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocyto... OMIM:260400
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis OMIM:145981
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Portal hypertension, Short-se... OMIM:609136
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... ORPHA:206448
Digeorge Syndrome
Inguinal hernia, Ventricular septal defect, Femoral hernia, Thrombocytopenia, Splenomegaly, Obesi... OMIM:188400
Mogs-Cdg
Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment, Optic atroph... ORPHA:79330
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial... ORPHA:904
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Tachycardia, Ataxia, Recurrent fractures, Optic atrophy, O... ORPHA:1764
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Joint hypermobility, Sinus bradycardia OMIM:261990
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Charge Syndrome
Omphalocele, Lymphopenia, Mixed hearing impairment, Overriding aorta, Ventricular septal defect, ... OMIM:214800
Vipoma
Diabetes mellitus, Hypercalcemia, Weight loss, Hematochezia, Normochromic anemia, Hypokalemia, Su... ORPHA:97282
Sarcoidosis
Hemolytic anemia, Abnormal cardiac ventricular function, Eosinophilia, Portal hypertension, Hyper... ORPHA:797
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Sensorineural hearing impairment, Elevated amniotic fluid alpha-fetoprotein, L... ORPHA:423479
Glucagonoma
Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Acanthocytosis, Weight loss, Normo... ORPHA:97280
Somatostatinoma
Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Hypochromic microcytic anemia, Wei... ORPHA:97283
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Flexion contracture, Glucose intolerance, Atrial septal defect... OMIM:194050
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Abnormal pinna morphology, Congenital diaphragmatic hernia, Bradycardia, Low-set... OMIM:614437
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Broad-based gait, Ventricular septal defect, Optic nerve hypoplasia, Posteriorly ro... OMIM:620330
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Failure to thrive, Hypercalcemia, Gait ataxia ORPHA:476126
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Johanson-Blizzard Syndrome
Joint laxity, Diabetes mellitus, Ventricular septal defect, Small for gestational age, Portal hyp... OMIM:243800
Trisomy 10P
Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Hematemesis, Shortened QT interval, Cranial nerve compression, Osteolysis, Reduced... ORPHA:652
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Ab... ORPHA:401973
Multiple Endocrine Neoplasia Type 2
Joint laxity, Reduced subcutaneous adipose tissue, Aganglionic megacolon, Hypercalcemia, Palpitat... ORPHA:653
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Ataxia, Cardiac ... ORPHA:466677
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Hypercalcemia, Weight loss, Hematochezia, Multiple lipomas, Lipoma, ... ORPHA:913
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Sensorineural hearing impairment, Fl... ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Posteriorly rotated ears, Sensorineural hearing impairment, Reduced al... OMIM:301040
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ... ORPHA:99867
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... ORPHA:980
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Subcutaneous lipoma OMIM:131100
Ppoma
Gastrointestinal hemorrhage, Hypercalcemia, Subcutaneous lipoma, Weight loss ORPHA:97278
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased glucagon level,... ORPHA:276152
Grfoma
Gastrointestinal hemorrhage, Hypercalcemia, Subcutaneous lipoma, Weight loss ORPHA:97261
Sotos Syndrome
Joint laxity, Hip contracture, Inguinal hernia, Ventricular septal defect, Hypercalcemia, Cranios... ORPHA:821
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C... OMIM:618280
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Sinus bradycardia OMIM:619482
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Car... ORPHA:99125

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 Dpp8

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 Dpp8.

No publications found that use IMPC mice or data for Dpp8.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dpp8em1(IMPC)J Exon Deletion Mice
Dpp8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dpp8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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