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Gene: Hycc1 MGI:2149839

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Gene Summary

Name:
hyccin PI4KA lipid kinase complex subunit 1
Synonyms:
Fam126a,  hyccin

Order Alleles

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 cardiac output Hycc1em1(IMPC)Ccpcz HOM Early adult 3.89×10-06
increased red blood cell distribution width Hycc1em1(IMPC)Ccpcz HOM Early adult 1.96×10-08
increased lung compliance Hycc1em1(IMPC)Ccpcz HOM Early adult 2.83×10-06
abnormal inspiratory capacity Hycc1em1(IMPC)Ccpcz HOM Early adult 4.44×10-06
small salivary gland Hycc1em1(IMPC)Ccpcz HOM Early adult 0.00
increased monocyte cell number Hycc1em1(IMPC)Ccpcz HOM Early adult 3.84×10-05
decreased circulating sodium level Hycc1em1(IMPC)Ccpcz HOM   Early adult 6.30×10-05
abnormal salivary gland morphology Hycc1em1(IMPC)Ccpcz HOM Early adult 0.00
increased cardiac stroke volume Hycc1em1(IMPC)Ccpcz HOM Early adult 3.06×10-05
increased mean corpuscular hemoglobin Hycc1em1(IMPC)Ccpcz HOM   Early adult 2.55×10-05
dilated heart left ventricle Hycc1em1(IMPC)Ccpcz HOM   Early adult 7.07×10-06
enlarged thymus Hycc1em1(IMPC)Ccpcz HOM Early adult 0.00
increased neutrophil cell number Hycc1em1(IMPC)Ccpcz HOM Early adult 7.74×10-05
decreased circulating total protein level Hycc1em1(IMPC)Ccpcz HOM Early adult 1.15×10-05
increased circulating potassium level Hycc1em1(IMPC)Ccpcz HOM Early adult 1.70×10-06
no spontaneous movement Hycc1em1(IMPC)Ccpcz HOM E18.5 0.00
decreased lung elastance Hycc1em1(IMPC)Ccpcz HOM Early adult 1.61×10-05
increased fasting circulating glucose level Hycc1em1(IMPC)Ccpcz HOM Early adult 1.71×10-12
increased circulating bilirubin level Hycc1em1(IMPC)Ccpcz HOM Early adult 5.76×10-05
preweaning lethality, incomplete penetrance Hycc1em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

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XRay Images Skull Lateral Orientation

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XRay Images Whole Body Lateral Orientation

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XRay Images Hind Leg and Hip

23 Images

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MicroCT E18.5

Embryo reconstruction

3 Images

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XRay Images Whole Body Dorso Ventral

30 Images

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XRay Images Skull Dorso Ventral Orientation

15 Images

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Human diseases caused by Hycc1 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 Hycc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypomyelination-Congenital Cataract Syndrome
ORPHA:85163
Leukodystrophy, Hypomyelinating, 5
OMIM:610532

The table below shows human diseases predicted to be associated to Hycc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Malaria
Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hy... ORPHA:673
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia, Neutropenia OMIM:616949
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Leukopenia... ORPHA:99828
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Respiratory insufficiency, Increased blood urea ni... OMIM:613845
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Respiratory... ORPHA:449285
Lymphangiectasia, Intestinal
Malabsorption, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Elevated circulating creatine kinase concentration, Tac... ORPHA:26793
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Pulmonary embolism, Iron deficiency anemia, Abnormal intes... OMIM:226300
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Necrotizing Enterocolitis
Shock, Hyponatremia, Apnea, Leukocytosis, Abnormal heart morphology, Bradycardia, Hypotension, Ne... ORPHA:391673
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... OMIM:603554
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Asthma, Leukopenia, Monocytosis, Bone marrow hypocellu... OMIM:616871
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Xerostom... ORPHA:85443
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Pericardial effusion, Pleural effusion, Abnormal small intestinal villus morphol... ORPHA:90362
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Splenomegaly... OMIM:614470
Immunodeficiency 43
Lung abscess, Bronchiectasis, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, ... OMIM:241600
Ménétrier Disease
Gastrointestinal hemorrhage, Abnormal gastric mucosa morphology, Multiple gastric polyps, Hypochr... ORPHA:2494
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Malabsorption ORPHA:1116
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Lymphad... OMIM:619644
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Diabetes mellitus, Dextrocardia, Abnormality of the dentition, Malabso... ORPHA:2315
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Colchicine Poisoning
Respiratory distress, Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovole... ORPHA:31824
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... OMIM:619281
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... ORPHA:232
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... ORPHA:167
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, T... ORPHA:71275
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration OMIM:221400
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Oral ulcer, Gingivitis, Acute l... ORPHA:486
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Splenomegaly, Di... OMIM:615895
Hereditary Coproporphyria
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Respiratory insufficienc... ORPHA:79273
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hyperbiliru... OMIM:620010
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Apnea, Hypoglycemia OMIM:240200
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Herpes Simplex Virus Encephalitis
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... ORPHA:1930
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Wheezing, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Cough... ORPHA:171876
Whipple Disease
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myocardial infarction, Malabsorption, Sp... ORPHA:3452
Mirage Syndrome
Hyponatremia, Hypoglycemia, Cryptorchidism, Esophageal stricture, Thrombocytopenia, Hyperkalemia,... OMIM:617053
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Asthma, Recurrent pneum... OMIM:617585
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Pituitary adenoma, Adrenocor... ORPHA:91354
Infantile Sialic Acid Storage Disease
Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure, Vacuolated l... OMIM:269920
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... ORPHA:1667
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Respiratory insufficiency, Lymphadenopathy... ORPHA:549
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... ORPHA:682
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... ORPHA:2298
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:91547
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, Re... ORPHA:100924
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... ORPHA:2688
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Pancreatic lymphangiectasis,... OMIM:235255
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Neonatal hyperbilirubinemia OMIM:129850
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... ORPHA:247353
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Hyponatremia, ... ORPHA:199299
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity,... OMIM:616278
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia, Leukocytosis, Anterior open-bite malocclusion, Thrombocytopeni... ORPHA:83601
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Pyloric stenosis, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Renal Hypoplasia, Bilateral
Hyponatremia, Neonatal respiratory distress, Cryptorchidism, Hyperkalemia, Hypertension, Glycosur... ORPHA:97362
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Myocardial infarction, Intestinal perforation, Thrombocytopenia, R... ORPHA:90038
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... OMIM:612541
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Diabetes mellitus, Sp... ORPHA:90041
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Pancreatic lymphangiectasis,... ORPHA:1655
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Respiratory insufficiency, Increased total bilirubin ORPHA:2924
Variant Abeta2M Amyloidosis
Intestinal perforation, Cardiac amyloidosis, Abnormality of the tongue, Reduced left ventricular ... ORPHA:314652
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:203400
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Shigellosis
Hyponatremia, Hypoglycemia, Pneumonia, Abscess, Intestinal perforation, Thrombocytopenia, Leukocy... ORPHA:810
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... OMIM:226990
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Neonatal hypoglycemia ORPHA:199296
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Cryptorchidism, Apnea, Respiratory insufficiency OMIM:608093
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Hypertensive crisis, Elevated circulating creatine kinase concentratio... ORPHA:94093
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... OMIM:185000
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:620125
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Tachypnea, Abnormal blood ion concentration, Hypovolemic... ORPHA:173
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Thin upper lip vermilion, Hypoglycemia, Secundum atrial septal defect, Wide mouth OMIM:608688
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level OMIM:610600
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Respiratory insufficiency, Anemia, Abnormal... ORPHA:848
Infant Botulism
Hyponatremia, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Xerostom... ORPHA:178478
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test, Neonatal hyperbilirubinemi... ORPHA:3363
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... OMIM:235700
Porphyria Variegata
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Ileus, Hypertension, Res... ORPHA:79473
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension ORPHA:556037
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Pituitary Apoplexy
Hyponatremia, Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circu... ORPHA:95613
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hypotension OMIM:264350
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:177735
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly, ... ORPHA:64743
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension ORPHA:556030
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Cryptorchidism, Hyperkalemia, Hypoglycemia OMIM:614736
Alg8-Cdg
Hyponatremia, Macroglossia, Thrombocytopenia, Anemia ORPHA:79325
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia, Cholelithiasis OMIM:182900
Pyruvate Kinase Deficiency Of Red Cells
Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia, Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Cryptorchidism, Neonatal asphyxia, Hyperkalemia, Adrenocorticotropic hormone excess... ORPHA:90791
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restrictive cardiomy... ORPHA:822
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocyto... OMIM:618278
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... OMIM:618892
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... OMIM:300539
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... OMIM:616299
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Au... ORPHA:293978
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Myocardial... ORPHA:95409
Adenohypophysitis
Hyponatremia, Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocortico... ORPHA:95512
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Increased total bilirubin OMIM:174050
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Hypertensive crisis, Diabetes mellitus, Brain abscess, Pneumonia,... ORPHA:544482
Panhypophysitis
Hyponatremia, Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocortico... ORPHA:95513
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Reduced circulating prolactin concentration,... ORPHA:91355
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Arrhythmia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Chronic Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Trimethylaminuria
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin, Exertional dyspnea ORPHA:90036
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Conjugated hyperbilirubinemia, Splenomegaly, Wheezing, Cholelithiasis, Fat malabsorption OMIM:211600
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Bone-marrow foam cells, Hypersplenism, ... ORPHA:275761
Hepatic Veno-Occlusive Disease
Respiratory failure, Increased total bilirubin ORPHA:890
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... ORPHA:98826
Familial Glucocorticoid Deficiency
Hyponatremia, Ketotic hypoglycemia, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, ... ORPHA:361
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Malabsorption OMIM:214900
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia, Anal atresia OMIM:260450
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... ORPHA:464321
Alg12-Cdg
Hyponatremia, Thin upper lip vermilion, Intestinal malrotation, Cryptorchidism, Muscular ventricu... ORPHA:79324
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hematochezia, Protein-l... OMIM:618183
Melioidosis
Shock, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spleen, Acute in... ORPHA:31202
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Gingiva... OMIM:259720
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Addison Disease
Hypoparathyroidism, Normocytic anemia, Orthostatic hypotension, Primary testicular failure, Hypon... ORPHA:85138
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... ORPHA:158048
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Ventricular septal defect, Clef... OMIM:612561
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev... ORPHA:427
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
Nephronophthisis 2
Situs inversus totalis, Hyperkalemia, Elevated circulating creatinine concentration, Respiratory ... OMIM:602088
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Holoprosencephaly
Hyponatremia, Median cleft lip, Hypoglycemia, Bilateral cleft lip, Diabetes mellitus, Ventricular... ORPHA:2162
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thromboc... ORPHA:163979
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Elevated circulating creatinine concentration, Capillary lea... ORPHA:542323
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Epistaxis, Asthma, Thick lower lip vermilion, High palat... ORPHA:293939
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Neonatal respiratory distress, Apnea, Elevated circulating creatine kina... OMIM:608836
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal telangiectasia OMIM:620157
Primary Familial Polycythemia
Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-r... ORPHA:36238
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Adrenal hyperplasia, Hypoglycemia, Pneumonia, Hyperkalemia, Macroorchidism ORPHA:90790
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypertension, Hypokalemia, High palate, Hypocalcemia OMIM:617913
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... OMIM:614300
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Hypoglycemi... ORPHA:348
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, A... ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Dyspnea, Dilated cardiomyopathy... OMIM:610505
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Wide mouth, Anisocytosis OMIM:604273
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Graft Versus Host Disease
Tachycardia, Pneumonia, Oral ulcer, Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis, Hyperb... ORPHA:39812
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... OMIM:611881
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac... ORPHA:1302
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... OMIM:604250
Cystic Echinococcosis
Eosinophilia, Abnormality of the testis size, Abscess, Asthma, Abnormal heart morphology, Ovarian... ORPHA:400
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Dental crowding, Hypoammonemia, Deep philtrum, Gingivitis, Periodontitis, Hy... ORPHA:534
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Hyponatremia, Retinal telangiectasia OMIM:620155
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemia, Hyperprolinemi... OMIM:615751
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypoventilation, Hyponatremia, Spontaneous pneumothorax, Portal hype... ORPHA:731
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lymphadenopathy, Spl... OMIM:181000
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Beta-Thalassemia Major
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Cryptorchidism, Hypovolemia, Hyperk... ORPHA:168558
Bachmann-Bupp Syndrome
Thin upper lip vermilion, Hypoglycemia, Cryptorchidism, High palate, Hyperbilirubinemia OMIM:619075
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Leukocytosis, Elevated... ORPHA:340
Igg4-Related Submandibular Gland Disease
Eosinophilia, Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Lymphadenopathy... ORPHA:449432
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... ORPHA:79303
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Cryptorchidism, Hypovolemia, Hyperk... ORPHA:289548
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia,... ORPHA:95716
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... ORPHA:447
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia OMIM:145260
Biliary Atresia, Extrahepatic
Atretic gallbladder, Bile duct proliferation, Unconjugated hyperbilirubinemia, Hyperbilirubinemia... OMIM:210500
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... ORPHA:846
Japanese Encephalitis
Respiratory distress, Hyponatremia, Neutrophilia, Respiratory paralysis, Abnormal pattern of resp... ORPHA:79139
Abetalipoproteinemia
Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Cardiomegaly, Congestiv... ORPHA:14
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Malabsorption, Thromboc... OMIM:557000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... OMIM:251880
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Neonatal hyperbiliru... ORPHA:3008
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hyperbilirubinemia, Steatorrhea OMIM:235555
Acute Intermittent Porphyria
Hyponatremia, Tachycardia, Ileus, Respiratory insufficiency, Hypertension, Respiratory paralysis,... ORPHA:79276
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, An... OMIM:615710
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... OMIM:609734
Malignant Hyperthermia Of Anesthesia
Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular tachycardia, Hyperkalem... ORPHA:423
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Thrombocytope... ORPHA:50918
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Fanconi-Bickel Syndrome
Hypouricemia, Malabsorption, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increa... OMIM:227810
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Glycosuri... ORPHA:411634
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Hypocalcemia, Nodular... ORPHA:64744
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-losing ent... OMIM:175500
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive h... OMIM:617156
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Decreased response to growth hormone stimulation test, Central hyp... ORPHA:293987
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Bile duct proliferation, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Ogden Syndrome
Apnea, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Dee... OMIM:300855
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Goiter ORPHA:95715
Adrenal Hypoplasia, Congenital
Hyponatremia, Cryptorchidism OMIM:300200
Lathosterolosis
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Gingival ov... OMIM:607330
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis OMIM:608885
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia ORPHA:101009
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hematochezia, Bile duct proliferation, Hyperbilirubinemia, Steatorrhea OMIM:613812
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Abnormal circulatin... ORPHA:79277
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Impaired myocardial contractility, Respiratory paralysis, Postprandial hype... ORPHA:681
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Decreased serum bile acid concentration, Fat malabsorption, Hyperbilirubinemia OMIM:214950
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:617049
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... ORPHA:464453
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Birk-Landau-Perez Syndrome
Hypertension, Neonatal respiratory distress, Hyperkalemia, Increased circulating creatine kinase ... OMIM:617595
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Fat malabsorption OMIM:601847
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Methylmalonic acidemia, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia... OMIM:251000
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Pneumonia, Fol... OMIM:619381
Caroli Syndrome
Liver abscess, Portal hypertension, Hypersplenism, Hematemesis, Leukocytosis, Conjugated hyperbil... ORPHA:480520
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Blau Syndrome
Pericarditis, Splenomegaly, Dyspnea, Xerostomia, Large vessel vasculitis, Lymphadenopathy, Hypert... ORPHA:90340
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Ventricular septal defect, Cryptorchidism, Deep philtrum, ... ORPHA:163956
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Atrial septal defec... OMIM:614886
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein ... ORPHA:829
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Posterior pituitary hypoplasia, Hyperbilirubinemia, Ne... OMIM:613986
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Shortened PR interval, H... ORPHA:79102
Leptospirosis
Respiratory distress, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Lymp... ORPHA:509
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d... OMIM:615508
Pseudohypoaldosteronism, Type Iic
Hypertension, Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Intrahepatic Cholestasis Of Pregnancy
Neonatal respiratory distress, Increased serum bile acid concentration, Abnormal pineal melatonin... ORPHA:69665
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia ORPHA:73272
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... ORPHA:31826
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:607765
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614495
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ov... OMIM:208085
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoglycemia, Intestinal malrotation, Portal hypertension, Tachypnea, Esophageal va... OMIM:613658
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... OMIM:619662
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Hypokalemia, Anemia OMIM:611489
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouric... OMIM:277900
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Hyponatremia, Neonatal respiratory distress, Apnea, Hypopnea, Hypokalemia OMIM:618426
Hereditary Methemoglobinemia
Lip discoloration, Methemoglobinemia, Exertional dyspnea ORPHA:621
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Reynolds Syndrome
Gastrointestinal hemorrhage, Calcinosis, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Pa... OMIM:613471
Familial Dysautonomia
Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Yellow Fever
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... ORPHA:99829
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Orchitis, Abnorma... ORPHA:449563
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Intracran... ORPHA:3226
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia ORPHA:99845
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Periodontitis, Pneumonia, Reduction of neutrophil motility OMIM:266265
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614496
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, Crackles, Tachypnea, H... ORPHA:466650
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Stridor, Macroglossia, Bradycardia, Ectopic thyroid, H... OMIM:218700
Liddle Syndrome
Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia ORPHA:526
Degcags Syndrome
Leukopenia, Iron deficiency anemia, High palate, Atrial septal defect, Patent foramen ovale, Hiat... OMIM:619488
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Fumarase Deficiency
Necrotizing enterocolitis, Perimembranous ventricular septal defect, High palate, Hyperbilirubine... OMIM:606812
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Col... OMIM:174900
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Splenomegaly, Ulcerative colitis, Inflammation of... ORPHA:2137
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia ORPHA:403
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hyp... ORPHA:251274
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland, Nodular goit... ORPHA:79078
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocyt... ORPHA:292
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hyponatremia, Hypovolemia, Testicular adrenal rest tumor, Hyperkalemia, Hypochloremia, Hyp... ORPHA:90794
Cranioectodermal Dysplasia 2
Atrial septal defect, Splenomegaly, Recurrent pneumonia, Cleft palate, Broad philtrum, Hypertensi... OMIM:613610
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Conjugated hyperbilirub... OMIM:614866
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Cryptorchidism, Adrenal hyperplasia, Hyperkalemia OMIM:201810
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Gly... OMIM:219800
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase... OMIM:300946
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Ventricular septal defect, Right ventricular hypertrophy, Glycosuria OMIM:613404
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hyp... ORPHA:88
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Macroglossia, Bradycardia... ORPHA:90673
Rabson-Mendenhall Syndrome
Dental crowding, Fasting hyperinsulinemia, High palate, Fasting hypoglycemia, Atrial septal defec... ORPHA:769
Hardikar Syndrome
Atrial septal defect, Patent foramen ovale, Cleft soft palate, Portal hypertension, Partial anoma... OMIM:301068
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Cough, Emphysema, Hemol... ORPHA:797
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Intracranial ... ORPHA:369929
Caroli Disease
Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Es... ORPHA:53035
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia ORPHA:404
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Cholelithiasis OMIM:605479
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Hyperhomocyst... ORPHA:79284
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Pituitary hypothyroidism, Macroglossia, Bradycardia, Macroorchidism,... ORPHA:90674
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria... OMIM:619573
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hypokalemia, Palpitations, Goiter OMIM:188580
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology ORPHA:234
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Recurren... OMIM:619769
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Increased circulating renin level, Hypoma... ORPHA:89938
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Nephrogenic Diabetes Insipidus
Hypernatremia, Hypovolemia ORPHA:223
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Pierson Syndrome
Hypertension, Hypoproteinemia, Retinal hemorrhage OMIM:609049
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Nonproductive cough, Leukopenia, Hypoalbumine... ORPHA:99826
Psoriasis 14, Pustular
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Furrowed tongu... OMIM:614204
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia OMIM:617093
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Conjugated hyperbilirubi... ORPHA:567983
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Thyroid hypoplasia, ... OMIM:620186
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Respiratory failure OMIM:618252
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Megaloblastic a... ORPHA:35858
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim... OMIM:619534
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Hypertension, Hypokalemia, Palpitations, Decreased circulating re... ORPHA:231580
Senior-Boichis Syndrome
Portal hypertension, Esophageal varix, Hepatosplenomegaly, Hypertension, Anemia, Increased total ... ORPHA:84081
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... ORPHA:723
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Mirizzi Syndrome
Tachycardia, Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal ductus choledoc... ORPHA:521219
Lead Poisoning
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Asthma, Imbalanced hemoglobin... ORPHA:330015
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hiatus hernia OMIM:609727
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Peptic ulcer, Eosinophilia,... ORPHA:98849
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemia, Neutropenia, Hypoparathyroid... ORPHA:699
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly ORPHA:168577
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Inc... ORPHA:465508
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemi... ORPHA:358
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Hypokalemia, Goiter OMIM:613239
Beta-Ketothiolase Deficiency
Hypoglycemia, Leukocytosis, Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ... ORPHA:134
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Ectopic Aldosterone-Producing Tumor
Epistaxis, Ovarian neoplasm, Hypertension, Hypokalemia, Decreased circulating renin level ORPHA:231632
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... ORPHA:2363
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Asthma, Hypokalemia, Increased serum bile acid concen... OMIM:619377
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... OMIM:617052
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentratio... OMIM:612852
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Elevated circulating creatine kin... ORPHA:36234
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Respiratory distress, Pancytopenia, Neonatal respiratory distress, Myocar... OMIM:260400
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec... ORPHA:231625
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid c... OMIM:614887
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, Respiratory insufficiency, ... OMIM:208500
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbiliru... OMIM:229600
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97282
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, High palate, HbH hemoglobin, Microcytic anemia ORPHA:98791
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal ... OMIM:154500
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Vasculitis, Ly... OMIM:617099
Isolated Biliary Atresia
Hypopituitarism, Atretic gallbladder, Splenomegaly, Conjugated hyperbilirubinemia, Bile duct prol... ORPHA:30391
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Thin upper lip vermilion, Dental crowding, Bidirectional ventricular ectop... OMIM:170390
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus totalis, Eleva... OMIM:613095
Neurooculorenal Syndrome
Ectopic posterior pituitary, Intestinal malrotation, Dextrocardia, Conjugated hyperbilirubinemia,... OMIM:620305
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect,... OMIM:619475
Hyperaldosteronism, Familial, Type Iii
Hypertension, Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Celiac disease, Conjugated hyperbilirubinemia, Hypo... ORPHA:186
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Muir-Torre Syndrome
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Cystinosis
Portal hypertension, Malabsorption, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus ORPHA:213
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypoglycemia, Cryptorchidism, Hyperkalemia, Polycystic ovaries, Anteriorly placed a... OMIM:201750
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Cleft soft palate, Pure red cell aplasia, Clef... ORPHA:124
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, C... ORPHA:3260
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Dend Syndrome
Downturned corners of mouth, Hyperglycemia, Elevated hemoglobin A1c, Long philtrum ORPHA:79134
Congenital Disorder Of Glycosylation, Type Iim
Exaggerated cupid's bow, Hypertension, Fused teeth, High palate, Short philtrum, Thick vermilion ... OMIM:300896
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Ulcerative colitis, Inflammation of the large intestine, Granuloma, Hyperbilirubinemia, Abnormal ... ORPHA:562639
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:218030
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Thin upper lip vermilion, Everted lower lip vermilion OMIM:617101
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618126
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se... OMIM:604292
Liddle Syndrome 1
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:177200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Respiratory insuff... OMIM:210710
Thymoma
Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Ulcerative coli... ORPHA:99867
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Protruding tongue, Diastema, Cryptorchidism, Thick lower lip vermilion... OMIM:301040
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology ORPHA:252164
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Congenital hyp... OMIM:105650
Hartsfield Syndrome
Median cleft lip, Cleft upper lip, Cryptorchidism, Gonadotropin deficiency, Cleft palate, Hyperna... OMIM:615465
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Cheilitis, Lymphadenopathy, Neutropenia ORPHA:293173
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Hypertension, Hypokalemia, Glucose intolerance OMIM:219090
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Tented upper lip vermilion, Aganglionic megacolon, Abnormal hemoglobin, Abnormality of the dentit... ORPHA:847
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Anteriorly placed anus, Downturned corners of mouth, Hypocalcemia,... OMIM:243800
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypertension, Hypokalemia, Decreased circulating renin level ORPHA:320
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax OMIM:619036
Proteus-Like Syndrome
Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ova... ORPHA:2969
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Dyspnea, Lymphade... ORPHA:449427
Adrenocortical Carcinoma
Diabetes mellitus, Adrenocorticotropic hormone deficiency, Hypertension, Hypokalemia, Palpitations ORPHA:1501
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Apnea, Hypoglycemia, Secundum atrial septal defect, Hyperglycemia, Pancreatic ... OMIM:609069
Nelson Syndrome
Testicular neoplasm, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, In... ORPHA:199244
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Hypophosphatemia OMIM:134600
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Severe periodontitis, Protruding tongue, Microcytic anemia, Deep philtrum, Prematur... ORPHA:99843
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Leprechaunism
Enlarged ovaries, Rectal prolapse, Insulin resistance, Hyperinsulinemia, Megarectum, Hypokalemia,... ORPHA:508
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased circulating g... ORPHA:90793
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding ORPHA:252183
Darier-White Disease
Enlargement of parotid gland OMIM:124200
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Polycystic ovaries, Intracranial hemorrhage, Hypertension, Hypokal... ORPHA:90795
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... OMIM:263800
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tolerance, Elevat... OMIM:256040
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Ventricular arrhythmia, Elevated circulating growth hormone concentrati... ORPHA:91347
Helix Syndrome
Hypermagnesemia, Hyperparathyroidism, Hypokalemia, Xerostomia OMIM:617671
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Generalized Glucocorticoid Resistance Syndrome
Hypertension, Hypokalemia, Adrenal hyperplasia, Hypoglycemia ORPHA:786
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension, Hypokalemia, Congenital adrenal hyperplasia, Decreased testicular size, Decreased c... OMIM:202010
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension, Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Proximal Renal Tubular Acidosis
Malabsorption, Enamel hypomineralization, Hypovolemia, Bicarbonaturia, Subvalvular aortic stenosi... ORPHA:47159
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Hypotension OMIM:607364
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Low-to-no... OMIM:601678
Primary Sjögren Syndrome
Normocytic anemia, Lymphocytic interstitial pneumonia, Raynaud phenomenon, Thrombocytopenia, Nonp... ORPHA:289390
Rat-Bite Fever
Pericarditis, Parotitis, Lymphadenitis, Myocarditis, Endocarditis, Anemia ORPHA:31205
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Oral ulcer, Hepatosplenomegaly, Lymphade... OMIM:260920
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Hemolytic anemia, Hypokalemia ORPHA:18
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... ORPHA:3337
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Atrial septal defect, Diabetes mellitus, Hypoplastic tricuspid valve, Intesti... OMIM:600001
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Microdontia, Internal... ORPHA:286
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Sudden cardiac death,... ORPHA:744
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... OMIM:241200
Leukodystrophy, Hypomyelinating, 5
OMIM:610532
Hypomyelination-Congenital Cataract Syndrome
ORPHA:85163

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 Hycc1

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 Hycc1.

No publications found that use IMPC mice or data for Hycc1.

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MGI Allele Allele Type Produced
Hycc1em1(IMPC)Ccpcz Exon Deletion Mice
Hycc1tm40799(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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