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Gene: Cps1 MGI:891996

Gene Summary

Name:

carbamoyl-phosphate synthetase 1

Synonyms:

CPS, CPSase I, 4732433M03Rik, D1Ucla3

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 circulating HDL cholesterol level	Cps1^em1(IMPC)H	HET	Early adult	3.81×10^-05
decreased neutrophil cell number	Cps1^em1(IMPC)H	HET	Early adult	1.70×10^-05
preweaning lethality, complete penetrance	Cps1^em1(IMPC)H	HOM	Early adult	0.00
increased lymphocyte cell number	Cps1^em1(IMPC)H	HET	Early adult	3.54×10^-08
thrombocytosis	Cps1^em1(IMPC)H	HET	Early adult	3.79×10^-05
increased circulating cholesterol level	Cps1^em1(IMPC)H	HET	Early adult	6.83×10^-05
decreased circulating potassium level	Cps1^em1(IMPC)H	HET	Early adult	8.51×10^-06
hypoactivity	Cps1^em1(IMPC)H	HET	Early adult	2.87×10^-05

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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 Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Human diseases caused by Cps1 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 Cps1 (2 diseases)
Human diseases predicted to be associated with Cps1 (540 diseases)

The table below shows human diseases associated to Cps1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Carbamoyl-Phosphate Synthetase 1 Deficiency		Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia	ORPHA:147
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To		Episodic ammonia intoxication, Hypoargininemia, Low plasma citrulline, Hyperammonemia	OMIM:237300

The table below shows human diseases predicted to be associated to Cps1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch...	ORPHA:79506
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu...	OMIM:202700
Azotemia, Familial	Azotemia	OMIM:109160
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,...	OMIM:618963
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia	ORPHA:147
Cyclic Neutropenia	Neutropenia, Cyclic neutropenia	OMIM:162800
Hyperinsulinemic Hypoglycemia, Familial, 6	Asymptomatic hyperammonemia	OMIM:606762
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Pyruvate Dehydrogenase E1-Beta Deficiency	Hyperammonemia	OMIM:614111
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Thrombocythemia 1	Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat...	OMIM:187950
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia...	ORPHA:75564
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia	OMIM:601466
Spinocerebellar Ataxia, Autosomal Recessive 23	Ataxia, Hyponatremia, Neutropenia	OMIM:616949
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:306000
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Asplenia, Isolated Congenital	Thrombocytosis, Howell-Jolly bodies, Asplenia	OMIM:271400
Argininemia	Hyperammonemia	ORPHA:90
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple...	ORPHA:521
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Attention deficit hyperactivity disorder	OMIM:301033
Polycythemia Vera	Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ...	OMIM:263300
Glycogen Storage Disease Vi	Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia	OMIM:232700
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia	OMIM:615285
Neutropenia, Severe Congenital, X-Linked	Neutropenia	OMIM:300299
Hemophagocytic Lymphohistiocytosis, Familial, 4	Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid...	OMIM:603552
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis...	ORPHA:86841
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Neutropenia, Lymphopenia	OMIM:614868
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Thrombocytosis, Sterile abscess, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevated ci...	OMIM:604416
Sickle Cell Anemia	Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas...	ORPHA:232
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, Ataxia, Pancyt...	OMIM:159550
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia	OMIM:607250
Hyperlysinuria With Hyperammonemia	Hyperlysinemia, Hyperammonemia	OMIM:238750
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia	OMIM:619281
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia	OMIM:603813
Immunodeficiency 27A	Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocy...	OMIM:209950
Anemia, Sideroblastic, 5	Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia	OMIM:619523
Coronary Artery Disease, Autosomal Dominant 2	Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia	OMIM:610947
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hyperammonemia	ORPHA:6
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia	OMIM:617243
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid concentration, Elevated circul...	OMIM:615160
Hemochromatosis, Type 3	Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Increased circulating...	OMIM:604250
Fanconi Anemia, Complementation Group G	Leukemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:614082
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina...	OMIM:617780
Saccharopinuria	Hypercystinemia, Abnormality of circulating enzyme level, Hyperammonemia, Elevated plasma citrull...	ORPHA:3124
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Glutathione Synthetase Deficiency	Ataxia, Hemolytic anemia, Neutropenia	OMIM:266130
Aicardi-Goutieres Syndrome 2	Dystonia, Lymphocytosis	OMIM:610181
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Ras-Associated Autoimmune Leukoproliferative Disorder	Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan...	OMIM:614470
Hyperlipidemia, Familial Combined, 3	Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration...	OMIM:144250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr...	OMIM:619041
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618416
Ornithine Transcarbamylase Deficiency	Hyperammonemia	ORPHA:664
Immunodeficiency 21	Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni...	OMIM:614172
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin	ORPHA:231401
Propionic Acidemia	Hyperammonemia	ORPHA:35
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Neutropenia, Anemia, Hyperammonemia, Thrombocytopenia, Lethargy	ORPHA:289916
N-Acetylglutamate Synthase Deficiency	Increased level of L-glutamic acid in blood, Hyperammonemia	OMIM:237310
Refractory Anemia	Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr...	ORPHA:98826
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A...	OMIM:300835
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero...	OMIM:615703
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia	OMIM:613501
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia	ORPHA:94124
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Sitosterolemia 1	Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom...	OMIM:210250
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperammonemia	OMIM:615453
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Splenoportal Vascular Anomalies	Hyperammonemia	OMIM:271500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an...	OMIM:611590
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Neutropenia, Anemia, Hyperammonemia, Splenomegaly, Thrombocytopenia, Lethargy	ORPHA:79312
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia, Dystonia	OMIM:619301
Transcobalamin Deficiency	Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia	ORPHA:859
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia	ORPHA:35878
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia, Dystonia	OMIM:619302
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi...	ORPHA:158057
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma, Ataxia, Hypertriglyce...	OMIM:277460
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Folate Malabsorption, Hereditary	Athetosis, Neutropenia, Leukopenia, Ataxia, Thrombocytopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer...	OMIM:605814
Heme Oxygenase 1 Deficiency	Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ...	OMIM:614034
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia	ORPHA:28
Mitochondrial Dna Depletion Syndrome 17	Low plasma citrulline, Hyperammonemia	OMIM:618567
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618120
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Decr...	OMIM:616828
Primary Myelofibrosis	Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu...	ORPHA:824
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Episodic ammonia intoxication, Hypoargininemia, Low plasma citrulline, Hyperammonemia	OMIM:237300
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly	ORPHA:75234
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Elevated circulating creatine kinase concentration, Microcytic anemia, Neutropenia, Difficulty wa...	OMIM:251900
3-Methylglutaconic Aciduria, Type Vii	Neutropenia	OMIM:616271
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia, Steatorrhea	OMIM:618752
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c...	OMIM:616000
Immunodeficiency 92	Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy...	OMIM:619652
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Intermittent thrombocytopenia, S...	OMIM:150550
Developmental And Epileptic Encephalopathy 82	Hyperammonemia	OMIM:618721
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia	OMIM:613502
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Episodic ammonia intoxication, Hyperammonemia	OMIM:311250
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Hypoproteinemia, Neutropenia, Hypoalbuminemia	OMIM:600351
Macrophage Activation Syndrome	Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid...	ORPHA:158061
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hyperammonemia	OMIM:618253
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia	OMIM:598500
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Lethargy	OMIM:614857
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Griscelli Syndrome Type 2	Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hemophagocytosis	ORPHA:79477
Diamond-Blackfan Anemia 4	Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia	OMIM:612527
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Pyruvate Dehydrogenase E3 Deficiency	Hyperisoleucinemia, Decreased plasma carnitine, Elevated plasma branched chain amino acids, Hyper...	ORPHA:2394
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia	OMIM:208920
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia, Hyperuricemia	OMIM:617056
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia	OMIM:616738
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-...	OMIM:207750
Glutamine Deficiency, Congenital	Neonatal death, Hypoglutaminemia, Hyperammonemia	OMIM:610015
Methylmalonic Aciduria, Cblb Type	Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm...	OMIM:251110
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph...	OMIM:308240
Liddle Syndrome 3	Hypokalemia	OMIM:618126
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration...	ORPHA:158048
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Dysmetria, Gait ataxia, Hypertriglyceridemia	OMIM:606721
Diamond-Blackfan Anemia 8	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume	OMIM:612563
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hyperglutaminemia, Hyperalaninemia, Acute hyperammonemia, Hyperammonemia	ORPHA:927
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut...	ORPHA:169154
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hyperammonemia	OMIM:604273
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic...	ORPHA:90044
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration	OMIM:603776
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:600649
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Neutropenia	OMIM:617248
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Sting-Associated Vasculopathy, Infantile-Onset	Thrombocytosis, Leukopenia, Anemia, Lymphopenia, Elevated circulating C-reactive protein concentr...	OMIM:615934
Citrullinemia, Type Ii, Adult-Onset	Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia	OMIM:603471
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Thrombocytosis, Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Argininosuccinic Aciduria	Hyperglutaminemia, Hypoargininemia, Hyperammonemia	ORPHA:23
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating creatine kinase concentration, Transient hyperlipidemia, Hyperammonemia	OMIM:255120
Neuroleptic Malignant Syndrome	Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre...	ORPHA:94093
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Gait a...	ORPHA:572
Immunodeficiency 55	Neutropenia	OMIM:617827
Hypomagnesemia, Seizures, And Mental Retardation 2	Hypomagnesemia, Hyperactivity, Hypokalemia	OMIM:618314
Methylmalonic Aciduria, Cbla Type	Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm...	OMIM:251100
Barth Syndrome	Gait disturbance, Granulocytopenia, Neutropenia	OMIM:302060
Adult Idiopathic Neutropenia	Monocytopenia, Neutropenia, Lymphopenia, Monocytosis	ORPHA:2688
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia, Broad-based gait	OMIM:618067
Congenital Disorder Of Glycosylation, Type Iif	Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Thrombocytopenia, Macrothrombocytopenia	OMIM:603585
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Poikiloderma With Neutropenia	Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly	OMIM:604173
Citrullinemia Type I	Elevated plasma citrulline, Hyperammonemia	ORPHA:247525
Cog4-Cdg	Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly, Ataxia	ORPHA:263501
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra...	OMIM:241150
Lysosomal Acid Lipase Deficiency	Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Bon...	OMIM:278000
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Hyperammonemia	OMIM:615751
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Megaloblastic anemia,...	OMIM:277380
Beta-Ketothiolase Deficiency	Leukocytosis, Thrombocytosis, Hyperuricemia, Hyperammonemia, Ataxia	ORPHA:134
Propionic Acidemia	Dystonia, Neutropenia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Thrombocytopenia, L...	OMIM:606054
Infantile Liver Failure Syndrome 2	Hyperammonemia	OMIM:616483
Carnitine Deficiency, Systemic Primary	Decreased plasma carnitine, Hyperammonemia	OMIM:212140
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia	ORPHA:181393
Bone Marrow Failure Syndrome 6	Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia	OMIM:618849
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Necrotizing Enterocolitis	Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia, Lethargy	ORPHA:391673
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Multiple Carboxylase Deficiency	Hyperammonemia	ORPHA:148
Idiopathic Aplastic Anemia	Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	ORPHA:88
Whim Syndrome 1	Neutropenia	OMIM:193670
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperammonemia	OMIM:614739
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Hyperammonemia, Hyperuricemia, Ataxia, Lethargy	ORPHA:20
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,...	OMIM:618986
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholesterolemi...	ORPHA:64753
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased plasma carnitine, Hyperuricemia, Hyperammonemia	OMIM:246450
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Decreased plasma total carnitine, Hyperammonemia	ORPHA:42
Congenital Disorder Of Glycosylation, Type Ia	Hypocholesterolemia, Thrombocytosis, Ataxia, Hypoalbuminemia	OMIM:212065
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia	OMIM:251000
Specific Granule Deficiency 2	Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules	OMIM:617475
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hyperalaninemia, Hyperammonemia	OMIM:619051
Imerslund-Gräsbeck Syndrome	Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce...	ORPHA:35858
Congenital Enterovirus Infection	Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Hy...	ORPHA:292
Pelger-Huet Anomaly	Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit...	OMIM:169400
Celiac Disease, Susceptibility To, 1	Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Ataxia, Steatorrhea, Hypocalcemia	OMIM:212750
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hyperammonemia	ORPHA:27
Hyperlipoproteinemia, Type I	Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas...	OMIM:238600
Transcobalamin Ii Deficiency	Macrocytic anemia, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Lethargy	OMIM:275350
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia	OMIM:617049
Combined Oxidative Phosphorylation Deficiency 4	Hyperammonemia	OMIM:610678
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i...	OMIM:619220
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal...	ORPHA:247598
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Neutropenia	OMIM:601495
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia	OMIM:601198
Aggressive Systemic Mastocytosis	Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep...	ORPHA:98850
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperornithinemia, Hyperammonemia	OMIM:238970
Liddle Syndrome	Hypokalemia	ORPHA:526
X-Linked Agammaglobulinemia	Neutropenia, Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Thrombocytopenia	ORPHA:47
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hyperammonemia	ORPHA:1194
Aregenerative Anemia	Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport...	ORPHA:101096
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Wolcott-Rallison Syndrome	Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto...	ORPHA:1667
Autosomal Dominant Severe Congenital Neutropenia	Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop...	ORPHA:486
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Ataxia, Hepatosplenomegaly, Lymph...	OMIM:615688
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula...	ORPHA:2169
East Syndrome	Hypokalemia, Hypomagnesemia, Ataxia, Inability to walk, Hyperaldosteronism, Increased circulating...	ORPHA:199343
Combined Immunodeficiency Due To Partial Rag1 Deficiency	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy...	ORPHA:231154
Evans Syndrome	Lethargy, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an...	ORPHA:1959
Hepatocellular Carcinoma	Thrombocytosis, Hyponatremia, Hypercalcemia, Hypokalemia, Polycythemia, Anemia, Hyperbilirubinemi...	ORPHA:88673
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Splenomegaly, Ataxia, Inability to walk, Hemolytic anemia	OMIM:608885
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	OMIM:601859
Holocarboxylase Synthetase Deficiency	Hyperammonemia	ORPHA:79242
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Elevated circulating creatine kinase concentration, Decreased plasma carnitine, Hyperammonemia	OMIM:201475
Chediak-Higashi Syndrome	Gait disturbance, Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, An...	OMIM:214500
Blackfan-Diamond Anemia	Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu...	ORPHA:124
Hsd10 Disease, Infantile Type	Hyperammonemia	ORPHA:391428
Familial Hemophagocytic Lymphohistiocytosis	Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid...	ORPHA:540
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	OMIM:251190
Citrullinemia Type Ii	Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A...	ORPHA:247585
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Smith-Magenis Syndrome	Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia	OMIM:182290
Galactokinase Deficiency	Hypercholesterolemia, Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma	ORPHA:79237
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Neutropenia, Anemia, Waddling gait, Lymphopenia, Thrombocytopenia	OMIM:242900
Chédiak-Higashi Syndrome	Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Abnormal pla...	ORPHA:167
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Colchicine Poisoning	Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal...	ORPHA:31824
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hyperhomocystinemia, Neutropenia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine...	ORPHA:79284
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability	Hypomagnesemia, Episodic hypokalemia	ORPHA:564178
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acetylcarnitine concentration, Mildly elevated creatine kinase, Increased ci...	ORPHA:71212
Citrullinemia, Classic	Hypoargininemia, Hyperglutaminemia, Episodic ammonia intoxication, Hyperammonemia	OMIM:215700
Diamond-Blackfan Anemia 11	Anemia, Neutropenia, Anemia of inadequate production	OMIM:614900
Hyperkalemic Periodic Paralysis	Hyperkalemia, Hyponatremia, Gait disturbance, Hypokalemia, Elevated circulating creatine kinase c...	ORPHA:682
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope...	OMIM:304790
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concentration, Decrea...	ORPHA:99901
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Hyponatremia, Increased circulating corticosterone level, Increased circulating ren...	OMIM:610600
Immunodeficiency 67	Transient neutropenia, Liver abscess	OMIM:607676
Mitochondrial Trifunctional Protein Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat...	OMIM:609015
Lichtenstein Syndrome	Neutropenia	OMIM:246550
Neonatal Lupus Erythematosus	Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia	ORPHA:398124
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl...	OMIM:612541
Carnitine-Acylcarnitine Translocase Deficiency	Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concentration, Decrea...	ORPHA:159
Letterer-Siwe Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Anemia, Hypokalemia, Hypocalcemia	OMIM:175500
Diabetes Insipidus, Neurohypophyseal, X-Linked	Hypokalemia	OMIM:304900
Autoerythrocyte Sensitization Syndrome	Thrombocytosis, Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Impaired platelet a...	ORPHA:324636
Retinal Venous Beading	Neutropenia	OMIM:180080
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Infantile Liver Failure Syndrome 3	Hyperammonemia	OMIM:618641
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Decreased plasma free carnitine, Elevated circulating long chain fatty acid concentration, Increa...	OMIM:608836
Trichohepatoenteric Syndrome 1	Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo...	OMIM:222470
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu...	ORPHA:443811
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Leukocytosis, Hyponatremia, Unconjugated hyperbilirubinemia, Schistocytosis, Microangiopathic hem...	ORPHA:90038
Bartter Syndrome, Type 5, Antenatal, Transient	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:300971
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated circulatin...	ORPHA:26791
Interstitial Lung And Liver Disease	Thrombocytosis, Anemia, Hyperammonemia	OMIM:615486
Familial Thrombocytosis	Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly	ORPHA:71493
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine...	OMIM:613179
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:212138
Cyclic Neutropenia	Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos...	ORPHA:2686
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:603909
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ...	OMIM:608203
Schimke Immuno-Osseous Dysplasia	Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Anemia, Lymphopenia, Thro...	ORPHA:1830
Syndromic Diarrhea	Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hypoplasia of th...	ORPHA:84064
Hypomagnesemia 2, Renal	Hypomagnesemia, Hypokalemia	OMIM:154020
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Mucopolysaccharidosis-Plus Syndrome	Neutropenia, Leukopenia, Anemia, Splenomegaly, Inability to walk, Hypoalbuminemia, Thrombocytopenia	OMIM:617303
Holocarboxylase Synthetase Deficiency	Hyperammonemia	OMIM:253270
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia	OMIM:210200
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Me...	OMIM:277400
Familial Hyperaldosteronism Type Ii	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism	ORPHA:404
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f...	ORPHA:26793
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin...	ORPHA:567548
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hyperaldosteronism, Hypokalemia	OMIM:214700
Pyruvate Carboxylase Deficiency	Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Hyperamm...	ORPHA:3008
Acute Promyelocytic Leukemia	Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia	ORPHA:520
Hypokalemic Periodic Paralysis	Mildly elevated creatine kinase, Episodic hypokalemia	ORPHA:681
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Developmental And Epileptic Encephalopathy 50	Hyperammonemia	OMIM:616457
Felty Syndrome	Neutropenia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia	ORPHA:47612
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia	ORPHA:403
Shwachman-Diamond Syndrome	Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea...	ORPHA:811
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis	ORPHA:90065
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen...	OMIM:607594
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Hyperaldosteronism, Hypokalemia	OMIM:613677
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Poems Syndrome	Polycythemia, Thrombocytosis	ORPHA:2905
Rett Syndrome	Increased serum pyruvate, Hyperammonemia	ORPHA:778
Liddle Syndrome 1	Decreased circulating renin level, Hypokalemia	OMIM:177200
Shwachman-Diamond Syndrome 1	Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Steatorrhea, Pancytopen...	OMIM:260400
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Hypokalemia	OMIM:134600
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia	OMIM:218030
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Birk-Landau-Perez Syndrome	Hyperkalemia, Dystonia, Ataxia, Difficulty walking	OMIM:617595
Hermansky-Pudlak Syndrome 2	Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu...	OMIM:608233
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Ataxia, Dystonia, Neutropenia, Hyperalaninemia	OMIM:615471
Argininosuccinic Aciduria	Hypoargininemia, Hyperglutaminemia, Episodic ammonia intoxication, Hyperammonemia	OMIM:207900
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin	ORPHA:86816
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone ...	ORPHA:556037
Cystinosis	Gait disturbance, Hypophosphatemia, Hypokalemia	ORPHA:213
Lysinuric Protein Intolerance	Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Leukopenia, I...	ORPHA:470
Idiopathic Hypereosinophilic Syndrome	Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega...	ORPHA:3260
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati...	ORPHA:228308
Brucellosis	Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Gran...	ORPHA:1304
Relapsing Fever	Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ...	ORPHA:91547
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis	OMIM:617718
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Hypokalemia, Hypomagnesemia, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Increased circulatin...	OMIM:612780
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat...	OMIM:616878
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat...	ORPHA:480864
Diamond-Blackfan Anemia 1	Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ...	OMIM:105650
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero...	ORPHA:231632
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir...	ORPHA:37042
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Familial Hyperaldosteronism Type Iii	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism	ORPHA:251274
Cohen Syndrome	Neutropenia, Leukopenia	OMIM:216550
Cartilage-Hair Hypoplasia	Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge...	OMIM:250250
Shwachman-Diamond Syndrome 2	Thrombocytopenia, Normocytic anemia, Neutropenia, Steatorrhea	OMIM:617941
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia	ORPHA:528
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Athetosis, Hypokalemia, Hyperaldosteronism	ORPHA:369929
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hyperalaninemia, Hyperammonemia	OMIM:614052
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia	ORPHA:508542
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Athetosis, Decreased circulating renin level, Hypokalemia	OMIM:615474
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone ...	ORPHA:556030
Sepsis In Premature Infants	Leukocytosis, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Elevated circulating C-reactiv...	ORPHA:90051
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Smith-Magenis Syndrome	Hypercholesterolemia, Gait disturbance, Attention deficit hyperactivity disorder, Hypertriglyceri...	ORPHA:819
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp...	OMIM:614700
Abdominal Obesity-Metabolic Syndrome 3	Hypercholesterolemia	OMIM:615812
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased circulating cortisol level, Glucocortocoid-insensitive primary hyperaldosteronism, Hypo...	ORPHA:231625
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ...	OMIM:619662
Gaisböck Syndrome	Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi...	ORPHA:90041
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Elliptocytosis 2	Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis	OMIM:130600
Lysosomal Acid Lipase Deficiency	Hyperkalemia, Hyponatremia, Vacuolated lymphocytes, Anemia, Bone-marrow foam cells, Hypercholeste...	ORPHA:275761
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Anemia, Splenomegaly, Hypercholesterolemia, H...	ORPHA:79240
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Juvenile Polyposis Syndrome	Anemia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Herpes Simplex Virus Encephalitis	Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia	ORPHA:1930
Immunodeficiency 23	Neutropenia, Abscess, Ataxia, Lymphopenia, Eosinophilia, Hemolytic anemia	OMIM:615816
Immunodeficiency 47	Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Accessory spleen, Thrombocytop...	OMIM:300972
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Anemia, Splenomegaly, Hypercholesterolemia, H...	ORPHA:264580
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Abnormality of circulating cortisol level, Hypokalemia	ORPHA:320
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Splenomegaly, Hypercholesterolemia, Hypertrig...	ORPHA:370
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver...	ORPHA:54251
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise	ORPHA:57
Argininemia	Hyperargininemia, Hyperammonemia	OMIM:207800
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero...	ORPHA:412
Hermansky-Pudlak Syndrome 10	Dystonia, Neutropenia, Splenomegaly	OMIM:617050
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero...	ORPHA:231580
Glycogen Storage Disease Ib	Xanthelasma, Neutropenia, Hyperlipidemia, Hyperuricemia	OMIM:232220
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia	OMIM:227810
Pearson Syndrome	Neutropenia, Hypokalemia, Anemia, Hypophosphatemia, Splenomegaly, Hypomagnesemia, Hyperalaninemia...	ORPHA:699
Hyperlysinemia	Hyperlysinemia, Hypoornithinemia, Hyperammonemia	ORPHA:2203
Megalocornea-Mental Retardation Syndrome	Hypercholesterolemia, Ataxia	OMIM:249310
Cholera	Hyponatremia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Lethargy	ORPHA:173
Biotinidase Deficiency	Hyperammonemia	OMIM:253260
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism	OMIM:177735
Fanconi Anemia, Complementation Group E	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	OMIM:600901
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Megaloblastic anemia...	ORPHA:79282
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Neutropenia	OMIM:608809
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria	OMIM:613090
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm...	ORPHA:3226
Mercury Poisoning	Dystonia, Hypokalemia	ORPHA:330021
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly	OMIM:308230
Psoriasis 14, Pustular	Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia	OMIM:614204
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Ataxia	ORPHA:2479
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Immunodeficiency 91 And Hyperinflammation	Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Elevated circulating C-reactive ...	OMIM:619644
Adrenocortical Carcinoma	Hypokalemia, Elevated serum 11-deoxycortisol, Increased circulating cortisol level, Paradoxical i...	ORPHA:1501
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Fanconi Anemia, Complementation Group A	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	OMIM:227650
Acute Monoblastic/Monocytic Leukemia	Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia	ORPHA:514
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Thrombocytosis, Perianal abscess, Hypochromic anemia	OMIM:618213
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Hyponatremia	OMIM:614736
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Liver abscess	ORPHA:69663
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Atte...	ORPHA:90674
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism	OMIM:264350
Kasabach-Merritt Syndrome	Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop...	ORPHA:2330
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:203400
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia	OMIM:210210
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hypokalemia, Lymphopenia, Decreased propor...	OMIM:619573
Osteootohepatoenteric Syndrome	Increased serum bile acid concentration, Anemia, Hypokalemia	OMIM:619377
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia	OMIM:614495
Marburg Hemorrhagic Fever	Hyperamylasemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, Elevated circula...	ORPHA:99826
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Neutropenia	ORPHA:445038
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia	OMIM:240200
Adult-Onset Still Disease	Leukocytosis, Abnormal circulating lipid concentration, Splenomegaly, Neutrophilia, Elevated circ...	ORPHA:829
Biotinidase Deficiency	Hyperammonemia	ORPHA:79241
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Staphylococcal Necrotizing Pneumonia	Leukocytosis, Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Le...	ORPHA:36238
Fanconi Anemia, Complementation Group I	Neutropenia	OMIM:609053
Acute Panmyelosis With Myelofibrosis	Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis, Pancytopenia	ORPHA:86843
Cryptogenic Organizing Pneumonia	Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia	ORPHA:1302
Fanconi Anemia, Complementation Group C	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	OMIM:227645
X-Linked Lymphoproliferative Disease	Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k...	ORPHA:2442
Diamond-Blackfan Anemia 7	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume	OMIM:612562
Bartter Syndrome, Type 3	Hyperchloriduria, Increased circulating renin level, Hyperaldosteronism, Hypokalemia	OMIM:607364
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria	OMIM:602522
Mirage Syndrome	Hyperkalemia, Hyponatremia, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen	OMIM:617053
Leigh Syndrome	Athetosis, Dystonia, Neutropenia, Anemia, Hyperalaninemia, Ataxia	ORPHA:506
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Increased prop...	OMIM:617099
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Wiskott-Aldrich Syndrome	Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem...	ORPHA:906
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Abnormal circulating citrulline concentration, Hyperornithinemia, Hyperammonemia	ORPHA:415
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Fanconi Anemia, Complementation Group D2	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Attention defic...	OMIM:227646
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hyperchloremia	OMIM:614492
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia	OMIM:614496
Combined Immunodeficiency Due To Zap70 Deficiency	Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ...	ORPHA:911
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Anemia, Hyperuricemia...	ORPHA:79259
Kikuchi-Fujimoto Disease	Neutropenia, Leukopenia, Anemia, Splenomegaly, Ataxia, Lymphocytosis, Thrombocytopenia, Elevated ...	ORPHA:50918
Systemic Mastocytosis With Associated Hematologic Neoplasm	Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo...	ORPHA:98849
Leukocyte Adhesion Deficiency	Leukocytosis, Thrombocytosis, Polycythemia, Acute myeloid leukemia, Perianal abscess, Abnormality...	ORPHA:2968
Rothmund-Thomson Syndrome Type 1	Calcinosis, Neutropenia, Leukemia, Anemia, Attention deficit hyperactivity disorder, Aplastic anemia	ORPHA:221008
Whim Syndrome	Limb ataxia, Lymphopenia, Neutropenia, Abnormality of neutrophil morphology	ORPHA:51636
Gitelman Syndrome	Hypomagnesemia, Increased circulating renin level, Ataxia, Hypokalemia	OMIM:263800
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay	Anemia, Acute myeloid leukemia, Neutropenia, Steatorrhea	OMIM:601347
Helix Syndrome	Hypermagnesemia, Hypokalemia	OMIM:617671
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Hyperammonemia	OMIM:222700
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in pres...	OMIM:615952
Fusariosis	Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma	ORPHA:228119
Juvenile Nephropathic Cystinosis	Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con...	ORPHA:411634
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking	ORPHA:99845
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Increased circulating renin level, Hyponatremia, Glucocortocoid-insensitive primary...	ORPHA:171876
Rothmund-Thomson Syndrome	Calcinosis, Neutropenia, Leukemia, Anemia, Aplastic anemia	ORPHA:2909
Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Increased circulating renin level, Lethargy	ORPHA:427
Pediatric-Onset Graves Disease	Hyperactivity, Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies	ORPHA:525731
Vipoma	Hypercalcemia, Normochromic anemia, Increased circulating cortisol level, Hypokalemia	ORPHA:97282
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypokalemia, Anemia, Hypophosphatemia, Hypercholesterolemia, Hyperaldosteronism, Th...	ORPHA:534
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:151660
Trichothiodystrophy	Anemia, Gait ataxia, Neutropenia, Increased mean corpuscular hemoglobin concentration	ORPHA:33364
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol level	ORPHA:90795
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo...	ORPHA:3337
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia	OMIM:219090
Bartter Syndrome, Type 1, Antenatal	Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype...	OMIM:601678
Autoimmune Lymphoproliferative Syndrome	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	ORPHA:3261
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Rothmund-Thomson Syndrome Type 2	Calcinosis, Neutropenia, Leukemia, Anemia, Aplastic anemia	ORPHA:221016
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased circulating corticosterone level, Decreased circulating renin level, Hypokalemia, Decre...	ORPHA:90793
Cartilage-Hair Hypoplasia	Anemia, Neutropenia, Hypocalcemia	ORPHA:175
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen	ORPHA:79456
Infantile Nephropathic Cystinosis	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:411629
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
X-Linked Intellectual Disability, Nascimento Type	Neutropenia, Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia	ORPHA:163956
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Elevated serum 11-deoxycortisol, Decreased circulating renin level, Hypokalemia	OMIM:202010
Bartter Syndrome, Type 2, Antenatal

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Gene: Cps1 MGI:891996

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Human diseases caused by Cps1 mutations