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Gene: Hycc1 MGI:2149839

Gene Summary

Name:

hyccin PI4KA lipid kinase complex subunit 1

Synonyms:

Fam126a, hyccin

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	Allele	Zyg	Life Stage	P Value
increased mean corpuscular hemoglobin	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.55×10^-05
increased neutrophil cell number	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.74×10^-05
increased fasting circulating glucose level	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.79×10^-13
enlarged thymus	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
dilated heart left ventricle	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	6.74×10^-06
increased circulating bilirubin level	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	8.56×10^-05
no spontaneous movement	Hycc1^{em1(IMPC)Ccpcz}	HOM	E18.5	0.00
increased red blood cell distribution width	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.29×10^-08
increased circulating potassium level	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.54×10^-07
increased cardiac output	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.88×10^-06
decreased lung elastance	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.39×10^-05
small salivary gland	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased cardiac stroke volume	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.47×10^-05
abnormal inspiratory capacity	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.44×10^-06
increased lung compliance	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.83×10^-06
abnormal salivary gland morphology	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased circulating total protein level	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.40×10^-05
increased monocyte cell number	Hycc1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.88×10^-05

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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MicroCT E18.5

Embryo reconstruction

3 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.

Human diseases associated with Hycc1 (2 diseases)
Human diseases predicted to be associated with Hycc1 (522 diseases)

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	Matching phenotypes	Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Protein-losing enteropathy, Hypomagnesemia, Microcytic anemia...	ORPHA:398063
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Melena, Increased circulating iron concentration, Increased mean corpuscular v...	ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Thrombocytope...	ORPHA:99828
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Malaria	Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:673
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocytosis, Leuk...	OMIM:614470
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Intestina...	OMIM:226300
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Stomach cancer, Abnormal gastric mucosa morphology,...	ORPHA:2494
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:603553
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Ante...	ORPHA:26793
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Oligodontia, Mic...	ORPHA:2315
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603554
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Jejunoileal ulceration, Small bowel diverticula, Tachycardia, Fat malabsorption, Hypoproteinemia	OMIM:221400
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Intestinal lymphangiectasia, Lymphopenia, Pericardial effusion, ...	ORPHA:90362
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Cardiom...	OMIM:615895
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concen...	OMIM:620010
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Macroglossia, Xerostomia, Post...	ORPHA:85443
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis...	ORPHA:67044
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Inflammation of the large intestine, Thrombocytosis, Leukocytosis, B lymphocytopeni...	OMIM:619281
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Pulmonary hemorrhage, Lymphadenopathy, Thromb...	OMIM:619644
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp...	OMIM:601775
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Infantile Sialic Acid Storage Disease	Congestive heart failure, Gingival overgrowth, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes...	OMIM:269920
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Oral ulcer, Gingiviti...	ORPHA:486
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal...	ORPHA:167
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia	ORPHA:2688
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Pancreatic lymphangiectasis, Splenomegaly, Cryptorchidism, Hypocalcem...	OMIM:235255
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia, U-Shaped upper lip vermilion	OMIM:129850
Dominant Beta-Thalassemia	Abnormality of the dentition, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hemato...	ORPHA:231226
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration...	OMIM:619868
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Hyperbilirubinemia, Portal hypertension, Splenomegaly, Inc...	OMIM:616278
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocy...	OMIM:235700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Crypto...	ORPHA:1655
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Relapsing Fever	Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,...	ORPHA:91547
Variant Abeta2M Amyloidosis	Reduced left ventricular ejection fraction, Abnormal salivary gland morphology, Cardiac amyloidos...	ORPHA:314652
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Immunodeficiency 15B	Reduced natural killer cell count, Monocytosis	OMIM:615592
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Cryptorchidism, Oral ulcer, Neutropenia, H...	OMIM:612541
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:182900
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the dentition, Neonatal hyp...	ORPHA:3363
Gaisböck Syndrome	Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration...	ORPHA:90041
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Hepatoportal Sclerosis	Hypoalbuminemia, Gastrointestinal hemorrhage, Hypersplenism, Leukopenia, Portal hypertension, Spl...	ORPHA:64743
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno...	OMIM:185000
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hematochezia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hem...	OMIM:620565
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Pyloric stenosis	OMIM:256300
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo...	OMIM:618892
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:612653
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia, T...	ORPHA:90037
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hyperthreoninemi...	ORPHA:247598
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition, Hyperkalemia, Hypertension	ORPHA:757
Glycogen Storage Disease Vii	Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati...	OMIM:232800
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hemolytic anemia	OMIM:609153
Pancreatic insufficiency, combined exocrine	Anal atresia, Hypoproteinemia, Congestive heart failure	OMIM:260450
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
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto...	OMIM:226990
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con...	ORPHA:288
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia...	ORPHA:1667
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi...	OMIM:301310
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Glycogen Storage Disease Due To Aldolase A Deficiency	Arrhythmia, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise	ORPHA:57
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H...	ORPHA:247585
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa...	OMIM:619991
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Increased total bilirubin	ORPHA:2924
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre...	ORPHA:86816
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B...	OMIM:616299
Osteopetrosis, Autosomal Recessive 9	Anemia, Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Beta-Thalassemia	Cholelithiasis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin...	ORPHA:848
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia, Cryptorchidism	OMIM:608093
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Mirage Syndrome	Hypoglycemia, Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Hyponatremia, T...	OMIM:617053
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:214900
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Acute colitis, Elevated circulating creatinine concentration, ...	ORPHA:90038
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ...	OMIM:258900
Diamond-Blackfan Anemia 6	Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Cleft upper lip, Persist...	OMIM:612561
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Wide mouth, Anisocytosis	OMIM:604273
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E...	OMIM:611881
Juvenile Polyposis Syndrome	Colon cancer, Stomach cancer, Narrow mouth, Juvenile gastrointestinal polyposis, Small intestinal...	ORPHA:2929
Melioidosis	Brain abscess, Cutaneous abscess, Parotitis, Shock, Abnormality of the spleen, Splenic abscess, L...	ORPHA:31202
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Idiopathic Congenital Hypothyroidism	Macroglossia, Neonatal hyperbilirubinemia, Bradycardia	ORPHA:95717
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card...	ORPHA:464321
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Secundum atrial...	OMIM:614300
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Fetal Cytomegalovirus Syndrome	Retinal hemorrhage, Splenomegaly, Thrombocytopenia, Anemia, Conjugated hyperbilirubinemia	ORPHA:294
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Splenomegaly, Conjugated hyperbilirubinemia, Fat malabsorption	OMIM:211600
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ...	OMIM:145600
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia, Cryptorchidism, Thin upper lip vermilion, High palate	OMIM:619075
Distal Xq28 Microduplication Syndrome	Epistaxis, Neonatal hyperbilirubinemia, Dental crowding, Thick lower lip vermilion, Open mouth, S...	ORPHA:293939
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum bile acid concentration, Steator...	ORPHA:79303
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Long philtrum, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sple...	OMIM:259720
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er...	ORPHA:231222
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Hypocalcemia, Ventricular septal defect, ...	ORPHA:163979
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Hyperphosphatemia, Hypomagnesemia, Leukocyt...	ORPHA:94093
Biliary Atresia, Extrahepatic	Increased total bilirubin, Atretic gallbladder, Hyperbilirubinemia, Unconjugated hyperbilirubinem...	OMIM:210500
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Goiter, Abnormal circulating thyroglobulin concentration, Bradycardi...	ORPHA:95716
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia	OMIM:268150
Renal Hypoplasia, Bilateral	Glycosuria, Cryptorchidism, Hyponatremia, Anemia, Hyperkalemia, Hypertension	ORPHA:97362
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Dilated cardiomyopathy, Hypoglycemia, Increased total bilirubin, Elevated circulat...	OMIM:608836
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca...	OMIM:613280
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Hyponatremia, Arrhythmia, Hyperkalemia, Increased circulating ...	ORPHA:171876
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:618858
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Villous atrophy...	OMIM:557000
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level	OMIM:203400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Hyperbilirubinemia, Decreased growth hormo...	OMIM:609734
Graft Versus Host Disease	Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Oral ulcer, Lymphadenopathy, Tachycardi...	ORPHA:39812
Hyperkalemic Periodic Paralysis	Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona...	ORPHA:682
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level	OMIM:620125
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Portal hypertension, Splenomegaly, Thrombocyto...	OMIM:251880
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Intestinal ...	OMIM:615710
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Anemia, Hypertension, Reduced circulating cortisol-binding globulin con...	OMIM:611489
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Cystic Echinococcosis	Peritoneal abscess, Abnormality of the testis size, Abnormal heart morphology, Hyperbilirubinemia...	ORPHA:400
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Hypertension	OMIM:145260
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Cryptorchidism, Hypoglycemia	OMIM:614736
Lathosterolosis	Elevated circulating lathosterol concentration, Long philtrum, Thick upper lip vermilion, Hyperbi...	OMIM:607330
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level	OMIM:610600
Late-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Acute Adrenal Insufficiency	Normocytic anemia, Hypotension, Hypoglycemia, Increased circulating renin level, Hyperuricemia, H...	ORPHA:95409
Congenital Bile Acid Synthesis Defect Type 3	Hepatosplenomegaly, Hyperbilirubinemia, Fat malabsorption, Bile duct proliferation	ORPHA:79302
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Pancreatic fibrosis, Nodular goiter, Abnorm...	ORPHA:64744
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Pericarditis	ORPHA:163596
Nephronophthisis 2	Elevated circulating creatinine concentration, Situs inversus totalis, Pulmonary insufficiency, H...	OMIM:602088
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Congestive heart failure, Hypocholesterolemia, Abnormal cir...	ORPHA:14
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Beta-Thalassemia Major	Abnormality of the dentition, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hemato...	ORPHA:231214
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperuricemia, Intermittent hyperventilation, Hyperala...	ORPHA:348
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Early-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Elevated circulating creatinine concentr...	ORPHA:542323
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hemolytic anemia	OMIM:608885
Congenital Erythropoietic Porphyria	Erythrodontia, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, R...	ORPHA:79277
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Bile duct proliferation	OMIM:613812
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Abnormal rectum morphology, Hyperbilirubinemia	ORPHA:101009
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level	OMIM:177735
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Protein-losing enteropathy, Xerostomia, Hypomagnesemia, Hypocalcemia, Hypokalemia, ...	OMIM:175500
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Caroli Syndrome	Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Hyperbilirubinemia, Hematemesis, Th...	ORPHA:480520
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Ogden Syndrome	Everted upper lip vermilion, Torsade de pointes, Thick upper lip vermilion, Hyperbilirubinemia, C...	OMIM:300855
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome, P...	ORPHA:447
Kikuchi-Fujimoto Disease	Vasculitis, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of ...	ORPHA:50918
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529799
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Hyperbilirubinemia, Fat malabsorption, Decreased serum bile acid concentration	OMIM:214950
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Hypotension, Hypertrophic cardiomyopathy, Cryptorchidism, Hyponatremia, Ke...	ORPHA:361
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hypotension, Hyperkalemia	OMIM:264350
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hypouricemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac...	OMIM:227810
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Leukocytosi...	ORPHA:90065
Cholestasis, Progressive Familial Intrahepatic, 2	Fat malabsorption, Conjugated hyperbilirubinemia, Splenomegaly	OMIM:601847
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syndrome, Absent circ...	OMIM:619705
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia	ORPHA:95715
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,...	OMIM:620152
Addison Disease	Normocytic anemia, Type I diabetes mellitus, Hypotension, Hypoglycemia, Celiac disease, Thiamine-...	ORPHA:85138
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hyperbilirubinemia, Double outlet right ventricle, Atrial septal defect, Elevated...	OMIM:614886
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Hyperbilirubinemia, Neonatal hypoglycemia, Posterior p...	OMIM:613986
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei...	ORPHA:29073
Lysosomal Acid Lipase Deficiency	Hypotension, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Hypersplenism, Hyponatremia, Pulmonar...	ORPHA:275761
Autoinflammatory Disease, Systemic, With Vasculitis	Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Increased T cell count, Ca...	OMIM:620376
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Cryptorchidism, Macrocytic anemia, Elev...	OMIM:620501
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Downturned corners of mouth, Tetralogy of Fallot, Cryptorchidism, Mi...	ORPHA:163956
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia, Steatorrhea, Fat malabsorption	OMIM:607765
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Hyperphosphatemia, Shock, Elevated circulatin...	ORPHA:340
Reynolds Syndrome	Gastrointestinal hemorrhage, Palmar telangiectasia, Lymphopenia, Hyperbilirubinemia, Splenomegaly...	OMIM:613471
Cholestasis, Progressive Familial Intrahepatic, 8	Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hy...	OMIM:619662
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Hypomagnesemia, Leukocytosis, Hypocalce...	ORPHA:31824
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Conjugat...	OMIM:208085
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Delayed eruption of teeth, Hypoglycemia	ORPHA:73272
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension, Hyperkalemia, Congenital adrenal hyperplasia, Decreased testicular size, Cryptorchid...	ORPHA:90791
Yellow Fever	Neutrophilia, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Elevated...	ORPHA:99829
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Inflammation of the large intestine, Pancytopenia, Splenomegaly, Pulmon...	OMIM:181000
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Brain abscess, Intussusception, Leukocytosis, Hypocalcemia, Hypertension, Hy...	ORPHA:544482
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par...	ORPHA:79078
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level	OMIM:614492
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an...	OMIM:611590
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Congestive heart failure, Hyperbilirubinemia, ...	OMIM:617156
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614495
Fumarase Deficiency	Polycythemia, Hyperbilirubinemia, Perimembranous ventricular septal defect, High palate, Necrotiz...	OMIM:606812
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Panc...	OMIM:251110
Igg4-Related Kidney Disease	Arteritis, Lymphadenitis, Decreased retinol-binding protein level, Elevated circulating creatinin...	ORPHA:449395
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon...	ORPHA:422
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Hypocalcemia, Arrhythmia, Hyperkalemia, Highly elevated creatine kinase	ORPHA:99845
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Increased serum bile acid concentration, Bilateral cryptorchidism	OMIM:619685
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Increased to...	ORPHA:2137
Familial Hypoaldosteronism	Hypotension, Increased circulating renin level, Hyponatremia, Orthostatic hypotension, Hyperkalem...	ORPHA:427
Blau Syndrome	Xerostomia, Large vessel vasculitis, Splenomegaly, Pulmonary arterial hypertension, Lymphadenopat...	ORPHA:90340
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Elevated circulating C-reactive protein concentrat...	ORPHA:54251
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Elevated circulating phytanic acid concentration, ...	OMIM:614866
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb...	OMIM:616216
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Intussusception, Duodenal adenocarcinoma, Hypokalemia, Multiple ga...	OMIM:174900
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614496
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Supraventricular tachycardia, High-...	ORPHA:423
Isolated Anencephaly	Cleft lip, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Second degree atrioventricular block, Hypomagne...	ORPHA:79102
Hardikar Syndrome	Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cleft soft palate, Bilateral cleft palate,...	OMIM:301068
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Increased circulating prolactin concentration, Goiter, Abnormal circ...	ORPHA:90674
Idiopathic Aplastic Anemia	Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Pancytopenia, Retinal hemorrhage, Reti...	ORPHA:88
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Bradycardia, Macroglossia, Thyroid hypoplasia, Increased circulating...	ORPHA:90673
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Liddle Syndrome	Hypokalemia, Arrhythmia, Cerebral ischemia, Hypertension	ORPHA:526
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Right ventricular hypertrophy, Conjugated hyperbilirubinemia, Glycosuria, Ventricular septal defect	OMIM:613404
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Rabson-Mendenhall Syndrome	Insulin-resistant diabetes mellitus, Ventricular septal defect, Atrial septal defect, High palate...	ORPHA:769
Cholestasis, Benign Recurrent Intrahepatic, 2	Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Igg4-Related Ophthalmic Disease	Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Lymphadenopathy, Ele...	ORPHA:449563
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Hyperglycemia, Elevated h...	ORPHA:552
Cranioectodermal Dysplasia 2	Polysplenia, Widely spaced teeth, Hyperbilirubinemia, Splenomegaly, Patent foramen ovale, Microdo...	OMIM:613610
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype...	ORPHA:3008
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Increased HDL...	ORPHA:70591
Caroli Disease	Cholelithiasis, Leukocytosis, Splenomegaly, Portal hypertension, Conjugated hyperbilirubinemia, E...	ORPHA:53035
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Methylmalonic Acidemia With Homocystinuria Type Cblf	Elevated circulating palmitoleylcarnitine concentration, Abnormal heart morphology, Intraventricu...	ORPHA:79284
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ...	ORPHA:494444
Degcags Syndrome	Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Cryptorchidism, Protruding tongue, Ventricu...	OMIM:619488
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology	ORPHA:234
Wilson Disease	Hypouricemia, Hypoalbuminemia, Glycosuria, Hyperbilirubinemia, Splenomegaly, Hypoparathyroidism, ...	OMIM:277900
Necrotizing Enterocolitis	Hypotension, Shock, Hyperglycemia, Abnormal heart morphology, Leukocytosis, Abnormal glucose home...	ORPHA:391673
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Periodontitis, Neutrophilia	OMIM:266265
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypotension, Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Abn...	ORPHA:168558
Familial Hyperaldosteronism Type Iii	Epistaxis, Adrenal hyperplasia, Hypokalemia, Left ventricular hypertrophy, Prolonged QT interval,...	ORPHA:251274
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypotension, Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Abn...	ORPHA:289548
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Benign Schwannoma	Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology	ORPHA:252164
Birk-Landau-Perez Syndrome	Increased circulating creatine kinase MB isoform, Hyperkalemia, Hypertension	OMIM:617595
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Downturned corners of mouth, Lymphopenia, Leukopenia, Elevated circulating creatinine concentrati...	OMIM:301110
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Villous atrophy, Portal hypertension, Splenomegaly, Hyperlipidemia, Biliary hyper...	ORPHA:567983
Psoriasis 14, Pustular	Furrowed tongue, Leukocytosis, Geographic tongue, Neutrophilia, Elevated circulating C-reactive p...	OMIM:614204
Hereditary Methemoglobinemia	Methemoglobinemia, Lip discoloration	ORPHA:621
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Abnormal pineal melatonin secretion, Increased serum bile acid concentration	ORPHA:69665
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations, Goiter	OMIM:188580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Leptospirosis	Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Lymphadenopat...	ORPHA:509
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Lymphopenia, Decreased CD4:CD8 ratio, Atrial septal defect, Elevated c...	OMIM:619573
Pierson Syndrome	Retinal hemorrhage, Hypertension, Hypoproteinemia	OMIM:609049
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Adrenal hyperplasia, Ve...	ORPHA:369929
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Increased ci...	ORPHA:829
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia	OMIM:617093
Senior-Boichis Syndrome	Increased total bilirubin, Hepatosplenomegaly, Portal hypertension, Anemia, Hypertension, Esophag...	ORPHA:84081
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Oral ulcer, Neutropenia	OMIM:620443
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive prote...	ORPHA:36238
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Sple...	ORPHA:98849
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Hypocalcemia, Gastritis, Prolonged QT interval, Atr...	ORPHA:31826
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypoglycemia, Intestinal malrotation, Pancytopenia, Portal hypertension, Hypocal...	OMIM:613658
Hypothyroidism, Congenital, Nongoitrous, 2	Goiter, Hyperbilirubinemia, Bradycardia, Macroglossia, Thyroid hypoplasia, Increased circulating ...	OMIM:218700
Familial Hyperaldosteronism Type I	Epistaxis, Adrenal hyperplasia, Hypokalemia, Intracranial hemorrhage, Hypertension	ORPHA:403
Acquired Methemoglobinemia	Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Familial Hyperaldosteronism Type Ii	Epistaxis, Adrenal hyperplasia, Hypokalemia, Intracranial hemorrhage, Hypertension	ORPHA:404
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre...	OMIM:301078
Mirizzi Syndrome	Cholelithiasis, Hyperbilirubinemia, Abnormal ductus choledochus morphology, Gallbladder perforati...	ORPHA:521219
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of hemoglobin F, Persistence of primary teeth, Ventricular septal de...	OMIM:619769
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Absent nipple, Carious teeth, Natal tooth, Downturned corners of mouth, Ankyloglossi...	OMIM:620186
Pearson Syndrome	Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, Decreased re...	ORPHA:699
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hypoglycemia, Adrenal hyperplasia, Hyponatremia, Macroorchidism, Hyperkalemia	ORPHA:90790
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo...	ORPHA:466650
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Conjugated hyperbilirubinemia	ORPHA:168577
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Spastic Paraplegia 29, Autosomal Dominant	Hiatus hernia, Neonatal hyperbilirubinemia	OMIM:609727
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Abnormal dental enamel morp...	ORPHA:2363
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Downturned corne...	OMIM:617052
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Tachycardia, Shock, Elevated circulating crea...	ORPHA:99826
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Portal hypertension, Splenomegaly, Hyp...	ORPHA:186
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Increased circulating ferritin concentration, Hyperglyc...	ORPHA:465508
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, High palate, HbH hemoglobin, Cryptorchidism	ORPHA:98791
Treacher Collins Syndrome 1	Abnormal heart morphology, Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal ...	OMIM:154500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Hyperbilirubinemia, Ventricular septal defect, Everted ...	OMIM:619534
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Long philtrum, Anteriorly placed anus, Tricuspid regurgitation, Submucous cl...	OMIM:612863
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia, Goiter	OMIM:613239
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Decreased ...	OMIM:615474
Sarcoidosis	Abnormal lymph node morphology, Parotitis, Leukopenia, Hypercalcemia, Portal hypertension, Enlarg...	ORPHA:797
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutroph...	OMIM:617099
Sweet Syndrome	Inflammation of the large intestine, Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leuk...	ORPHA:3243
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypopho...	OMIM:229600
Isolated Biliary Atresia	Hypopituitarism, Atretic gallbladder, Splenomegaly, Fat malabsorption, Conjugated hyperbilirubine...	ORPHA:30391
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch...	ORPHA:99104
Neurooculorenal Syndrome	Ectopic posterior pituitary, Anteriorly placed anus, Recurrent hypoglycemia, Intestinal malrotati...	OMIM:620305
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hypertension	OMIM:605635
Cholera	Hypovolemic shock, Hypotension, Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Hyp...	ORPHA:173
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR interval, ...	ORPHA:358
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hyp...	ORPHA:231580
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c, Downturned corners of mouth, Long philtrum	ORPHA:79134
Diamond-Blackfan Anemia	Adenocarcinoma of the colon, Cleft lip, Macrocytic dyserythropoietic anemia, Increased mean corpu...	ORPHA:124
Lead Poisoning	Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentrati...	ORPHA:330015
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Dental crowding, Bidirectional ventricular ectopy, Palpitations, Delayed erupti...	OMIM:170390
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Situs inversus totalis, Hypokalemia, Dextrocardia,...	OMIM:613095
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Everted lower lip vermilion, Persistence of hemoglobin F	OMIM:617101
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, High, narrow palate, Short uvula, Congestive heart failure, Ankyloglossia, ...	OMIM:619475
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Decreased response to growt...	OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Decreased re...	OMIM:604292
Down Syndrome	Type II diabetes mellitus, Narrow mouth, Acute megakaryocytic leukemia, Open mouth, Protruding to...	ORPHA:870
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Open mouth, Exaggerated cupid's bow, Short philtrum, Fused teeth, En...	OMIM:300896
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Pancytopenia, Neutrophilia, Tachycardia, Diffuse alveolar hemorrhage, Bundle b...	ORPHA:99827
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Cleft upper lip, Persistence of hemoglobin F, Elevated red cel...	OMIM:105650
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	ORPHA:1302
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Diastema, Thick lower lip vermilion, Protruding tongue, Cryptorchidism, Ventricul...	OMIM:301040
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Hypertension, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Granuloma, Hyperbilirubinemia, Abnormal ductus choledochus m...	ORPHA:562639
Ectopic Aldosterone-Producing Tumor	Epistaxis, Decreased circulating renin level, Hypokalemia, Ovarian neoplasm, Hypertension	ORPHA:231632
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia	OMIM:614887
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Familial Mediterranean Fever	Aphthous ulcer, Leukocytosis, Splenomegaly, Orchitis, Elevated circulating amyloid A concentratio...	OMIM:249100
Osteootohepatoenteric Syndrome	Villous atrophy, Increased serum bile acid concentration, Hypokalemia, Ileoileal intussusception,...	OMIM:619377
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the dentition, Volvulus, Thick lower lip vermilion, Tented upper lip vermilion, Ab...	ORPHA:847
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Decreased circulating renin level, Hypokalemia, Intracr...	ORPHA:231625
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Abscess, Neutrophilia, Elevated circulating C-reactive protein concentration, Stoma...	OMIM:612852
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropen...	OMIM:260400
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pancreatic fibrosis, Pulmonary insufficiency, Pancreatic cysts, Conjugated hyperbilirubinemia, Bi...	OMIM:208500
Alstrom Syndrome	Abnormality of the dentition, Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Conges...	OMIM:203800
Liddle Syndrome 2	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:618126
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:218030
Abdominal Obesity-Metabolic Syndrome 3	Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete...	OMIM:615812
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular hypertrophy, Right ventricular dilatation, Elevated circulating creatine kinase...	OMIM:253700
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Splenomegaly, Polycystic ova...	ORPHA:2969
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Liddle Syndrome 1	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:177200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, High palate, Hypertension	OMIM:617913
Cystinosis	Hypokalemia, Type I diabetes mellitus, Hypophosphatemia, Portal hypertension	ORPHA:213
Johanson-Blizzard Syndrome	Colonic diverticula, Dilated cardiomyopathy, Downturned corners of mouth, Long philtrum, Anterior...	OMIM:243800
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Glucose intolerance, Hypokalemia, Hypertension, Impaired glucose tolerance	OMIM:219090
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypotension, Hyperkalemia, Shock, Decreased testicular size, Hyponatremia, Testicular adrenal res...	ORPHA:90794
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia, Cryptorchidism, Adrenal hyperplasia	OMIM:201810
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Cardiac diverticulum, Pancreatic adenocarcinoma, ...	ORPHA:144
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H...	ORPHA:466677
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Apparent Mineralocorticoid Excess	Hypokalemia, Left ventricular hypertrophy, Hypertension, Decreased circulating renin level	ORPHA:320
Vipoma	Pituitary adenoma, Increased circulating prolactin concentration, Hypercalcemia, Hypokalemia, Ele...	ORPHA:97282
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Tetralogy of Fallot, Muscular ventricular septal defect, Hyperbilirubinemia, Cryptorchidism, Pate...	OMIM:210710
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Myocardial eosinophilic infiltration, Neutrophilia, Myeloproliferative disord...	ORPHA:3260
Adrenocortical Carcinoma	Palpitations, Hypokalemia, Adrenocorticotropic hormone deficiency, Hypertension, Diabetes mellitus	ORPHA:1501
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level	OMIM:250790
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Nelson Syndrome	Pituitary carcinoma, Increased circulating prolactin concentration, Type II diabetes mellitus, Ad...	ORPHA:199244
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Open mouth, Cryptorchidism, Hypophosphatemia, Everted lo...	ORPHA:534
Neurofibroma	Intestinal bleeding, Enlargement of parotid gland, Multiple intestinal neurofibromatosis	ORPHA:252183
Mercury Poisoning	Hypokalemia, Tachycardia, Hypotension, Hypertension	ORPHA:330021
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia, Cheilitis	ORPHA:293173
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Ulcerative col...	ORPHA:99867
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
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
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Megarectum, Hypertrophic cardiomyopathy, Hyperins...	ORPHA:508
Juvenile Nephropathic Cystinosis	Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp...	ORPHA:411634
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia, Glycosuria	OMIM:134600
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Gingival overgrowth, Leukocytosis, Protruding tongue, Deep philtrum, Long uppe...	ORPHA:99843
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Congenital adrenal hype...	ORPHA:90793
Whim Syndrome	Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Tetralogy of Fallot, Abnor...	ORPHA:51636
Lacrimoauriculodentodigital Syndrome 1	Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon...	OMIM:149730
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Black pigment...	ORPHA:56
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Polycystic ovaries, Hypokalemia, Intracranial hemorrhage, Hype...	ORPHA:90795
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Microcytic anemia, Parotitis, Decreased HDL cholesterol concentration, ...	OMIM:256040
Gitelman Syndrome	Hypotension, Hypomagnesemia, Palpitations, Hypokalemia, Ventricular tachycardia, Prolonged QT int...	OMIM:263800
Rat-Bite Fever	Lymphadenitis, Parotitis, Myocarditis, Anemia, Endocarditis, Pericarditis	ORPHA:31205
Tsh-Secreting Pituitary Adenoma	Secondary growth hormone deficiency, Hypotension, Increased circulating prolactin concentration, ...	ORPHA:91347
Helix Syndrome	Hypokalemia, Hyperparathyroidism, Xerostomia, Hypermagnesemia	OMIM:617671
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypoglycemia, Anteriorly placed anus, Cryptorchidism, Ovarian cyst, Polycystic ovaries, Decreased...	OMIM:201750
Alg9-Cdg	Bifid uvula, Long philtrum, Tricuspid regurgitation, Abnormal heart morphology, Villous atrophy, ...	ORPHA:79328
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Lymphadenopathy, Neutr...	OMIM:260920
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypertension, Adrenal hyperplasia, Hypoglycemia	ORPHA:786
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased testicular size, Decreased circulating renin level, Hyp...	OMIM:202010
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokale...	OMIM:601678
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypertension, Hypomagnesemia	OMIM:612780
Proximal Renal Tubular Acidosis	Glycosuria, Enamel hypomineralization, Hypokalemia, Hypovolemia, Subvalvular aortic stenosis, Bic...	ORPHA:47159
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Gly...	OMIM:600001
Bartter Syndrome, Type 3	Hypokalemia, Hypotension, Hyperchloriduria, Increased circulating renin level	OMIM:607364
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation	ORPHA:369847
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Glycosuria, Hypomagnesemia, Hypophosphatemic ricke...	OMIM:219800
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph...	ORPHA:3337
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia	OMIM:613090
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Glycosuria	ORPHA:411629
Viss Syndrome	Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Celiac...	OMIM:619472
Distal Renal Tubular Acidosis	Hypokalemia, Hemolytic anemia	ORPHA:18
Proteus Syndrome	Carious teeth, Thymus hyperplasia, Pulmonary embolism, Tooth agenesis, Abnormal dental enamel mor...	ORPHA:744
Vascular Ehlers-Danlos Syndrome	Carious teeth, Periodontitis, Narrow mouth, Cryptorchidism, Mitral valve prolapse, Abnormal intes...	ORPHA:286
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Low-to-normal bl...	OMIM:241200
Bartter Syndrome Type 4	Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	ORPHA:89938
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia, Pulmonary insufficiency, H...	OMIM:614437
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia	OMIM:602522
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
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
Hycc1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Hycc1^{tm40799(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Hycc1 MGI:2149839

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

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X-ray

MicroCT E18.5

Human diseases caused by Hycc1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data