Gene Summary

Name:
elongation factor Tu GTP binding domain containing 2
Synonyms:
Snrp116,  116kDa,  U5-116kD

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating total protein level Eftud2tm1b(KOMP)Wtsi HET Early adult 7.08×10-08
increased circulating serum albumin level Eftud2tm1b(KOMP)Wtsi HET Early adult 5.47×10-13
decreased startle reflex Eftud2tm1b(KOMP)Wtsi HET Late adult 1.74×10-07
abnormal heart left ventricle morphology Eftud2tm1b(KOMP)Wtsi HET   Late adult 1.73×10-05
increased circulating HDL cholesterol level Eftud2tm1b(KOMP)Wtsi HET   Late adult 2.40×10-05
increased startle reflex Eftud2tm1b(KOMP)Wtsi HET Early adult 9.12×10-05
increased circulating calcium level Eftud2tm1b(KOMP)Wtsi HET   Late adult 6.09×10-05
thick ventricular wall Eftud2tm1b(KOMP)Wtsi HET   Late adult 8.03×10-05
increased circulating calcium level Eftud2tm1b(KOMP)Wtsi HET Early adult 2.87×10-12
increased circulating HDL cholesterol level Eftud2tm1b(KOMP)Wtsi HET Early adult 1.50×10-10
increased heart left ventricle size Eftud2tm1b(KOMP)Wtsi HET Early adult 1.47×10-11
decreased lymphocyte cell number Eftud2tm1b(KOMP)Wtsi HET Early adult 1.94×10-05
decreased grip strength Eftud2tm1b(KOMP)Wtsi HET Early adult 6.37×10-05
increased circulating cholesterol level Eftud2tm1b(KOMP)Wtsi HET Early adult 5.36×10-10
decreased leukocyte cell number Eftud2tm1b(KOMP)Wtsi HET Early adult 1.98×10-05
thrombocytosis Eftud2tm1b(KOMP)Wtsi HET Early adult 2.99×10-05
decreased heart left ventricle size Eftud2tm1b(KOMP)Wtsi HET Late adult 4.82×10-06
decreased exploration in new environment Eftud2tm1b(KOMP)Wtsi HET Early adult 4.31×10-05
increased cardiac muscle contractility Eftud2tm1b(KOMP)Wtsi HET   Late adult 5.81×10-05
preweaning lethality, complete penetrance Eftud2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating cholesterol level Eftud2tm1b(KOMP)Wtsi HET   Late adult 7.42×10-05

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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

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Eftud2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Eftud2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Atrial septal defect OMIM:610536
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113

The table below shows human diseases predicted to be associated to Eftud2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia DECIPHER:16
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarction, Hypercholester... OMIM:610947
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Throm... OMIM:604416
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, A... OMIM:209950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Anxiety, Increased mean corpu... ORPHA:90041
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Myocardial infa... OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Pyknoachondrogenesis
Stillbirth OMIM:265880
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... OMIM:267700
Adamantinoma
Hypercalcemia ORPHA:55881
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Rhabdoid Tumor
Anemia, Thrombocytopenia, Irritability, Hypercalcemia ORPHA:69077
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Thrombocythemia 3
Thrombocytosis OMIM:614521
Thrombocythemia 2
Thrombocytosis OMIM:601977
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia ORPHA:29073
Immunodeficiency 40
Lymphopenia OMIM:616433
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Immunodeficiency 8
Lymphopenia OMIM:615401
Hypophosphatasia
Anemia, Irritability, Hypercalcemia ORPHA:436
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Pseudohypoparathyroidism Type 2
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, ... ORPHA:94090
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... OMIM:603553
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Mental deterioration, Elevated circulating creatine kinase concentration, T... OMIM:208920
Hepatic Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... OMIM:616828
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Cognitive impairment, Hypocalcemia, Splenomegaly ORPHA:172
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, M... ORPHA:247585
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Decreased proportion of CD3-positive ... ORPHA:90362
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Infantile hypercalcemia, Aortic valve stenosis OMIM:143880
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia OMIM:226300
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia, Splenomegaly OMIM:306000
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... ORPHA:507
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Coronary artery stenosis, Hypercholesterolemia OMIM:615812
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head tremor, Chor... ORPHA:64753
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly ORPHA:75234
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT ... OMIM:601005
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Hyperca... OMIM:171420
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Oculogyric crisis, Elevated circulating creatine kina... ORPHA:94093
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Thrombocytosis, A... OMIM:615934
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Myocarditis, Abnormal macrophage morphology, Pericardia... ORPHA:292
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Morgagni-Stewart-Morel Syndrome
Action tremor, Cognitive impairment, Memory impairment, Suicidal ideation, Hyperuricemia, Hyperch... ORPHA:77296
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Elevated transferrin saturation, Incre... OMIM:604250
Immunodeficiency 19
Lymphopenia OMIM:615617
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Renovascular hypertension, Aortic regurgitation, Dilated cardiomyopathy, H... ORPHA:401923
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Irritability, Hypercalcemia OMIM:241500
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Apolipoprotein C-Ii Deficiency
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... OMIM:207750
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Irritability, Hypercholesterolemia ORPHA:263501
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Intention tremor, Thrombocytosis, Hypocholesterolemia, Tremor, Cardiomyopathy, Hypoa... OMIM:212065
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Nephrotic Syndrome, Type 14
Mental deterioration, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Aggressive behavior, Hypoproteinemia OMIM:608093
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Cognitive impairment, Left ventricular hypertrophy, Progressive neurologic deterior... ORPHA:90065
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Lymphopenia, Neutropenia OMIM:614868
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:618805
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosplenomegaly, Leukopeni... OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Episodic hemolytic anemia, Increased blood urea nitrogen, ... ORPHA:251004
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Irritability, Hypocalcemic seizures OMIM:146200
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Beta-Ketothiolase Deficiency
Apathy, Leukocytosis, Hyperammonemia, Thrombocytosis, Hyperuricemia ORPHA:134
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Cognitive impairment, Leukopenia, Hypoalbuminemia, Anemia, Thro... ORPHA:64743
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Elevated circulating creatin... ORPHA:26793
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, H... ORPHA:2070
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Polycythemia, Emotional lability, Thrombocytosis, Hypoalbuminemi... ORPHA:88673
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Trichohepatoenteric Syndrome 1
Splenomegaly, Pulmonic stenosis, Cognitive impairment, Tetralogy of Fallot, Increased mean platel... OMIM:222470
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Leptospirosis
Hyperproteinemia, Pericarditis, Thrombocytopenia ORPHA:509
3-Hydroxy-3-Methylglutaric Aciduria
Apathy, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Dilated cardiomyopathy, Hyperur... ORPHA:20
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Ventricular septal defect, Thrombocytosis, I... OMIM:243150
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Galactokinase Deficiency
Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Psychomotor deter... ORPHA:79237
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea, Anxiety, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr... OMIM:301074
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia OMIM:619013
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Hypertriglyceridemia, Hypercholesterolemia, Abnormal heart morphology OMIM:182290
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia OMIM:239200
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H... OMIM:615688
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Syndromic Diarrhea
Bicuspid aortic valve, Lymphopenia, Atrial septal defect, Splenomegaly, Hypoplasia of the thymus,... ORPHA:84064
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Autoimmune Hypoparathyroidism
Hypocalcemia, Laryngeal dystonia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, ... ORPHA:36913
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Right atrial enlargement, Restrictive cardiomyopath... OMIM:619313
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Mastocytosis
Splenomegaly, Mastocytosis, Chronic leukemia, Hypercalcemia, Acute leukemia ORPHA:98292
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Splenomegaly, Hypoproteinemia, Elevated circulating creatine kinase concentration, ... OMIM:615895
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Tremor, Complete atrioventricular canal defect, Aggressive behavior, Hypercalcemia ORPHA:476126
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Short term memory impairment, Hypertriglyceridemia, Xant... OMIM:277460
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia, Thrombocytopenia, Perimem... OMIM:608104
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Self-injurious behavior, Anxiety, Autoimmune thrombocytopenia, Thromb... ORPHA:324636
Monosomy 13Q34
Pulmonic stenosis, Hematochezia, Common atrium, Infantile hypercalcemia, Epistaxis ORPHA:96168
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Johanson-Blizzard Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Anemia, Hypoproteinemia ORPHA:2315
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Hyperca... OMIM:171300
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponat... ORPHA:199299
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect, Lymphocytosis, Hyperbilirubinemia, Hyperammo... ORPHA:1667
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Alg1-Cdg
Hypoalbuminemia, Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Galloway-Mowat Syndrome 7
Ventricular septal defect, Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... ORPHA:31824
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hyperlipoproteinemia, Type I
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Leukocytosis, Constrictive pericarditis, Hypoalbuminemia, Anemia... ORPHA:67
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia, Hypertrophic cardiomyopath... ORPHA:528
Double Outlet Right Ventricle
Double outlet right ventricle, Hypocalcemia, Hypoplastic left heart, Pulmonic stenosis, Tachycard... ORPHA:3426
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Normocytic anemia, Increased circulating renin level, Hypon... ORPHA:95409
Brucellosis
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Leukopenia, En... ORPHA:1304
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Laryngeal dystonia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, ... ORPHA:94089
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Abnormal heart morphology, Neutropenia, Atrial septal defect, ... ORPHA:124
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, Ventricular septal defect ORPHA:1655
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia, Intraalveolar phospholipid accumulation, Hyperammonemia OMIM:615486
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Steatorrhea, Intraalveolar phosph... ORPHA:470
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation ORPHA:47
Laron Syndrome
Hypercholesterolemia ORPHA:633
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... ORPHA:370
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Anxiety, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... ORPHA:363618
Aicardi-Goutieres Syndrome 9
Self-mutilation, Left ventricular hypertrophy, Hepatosplenomegaly, Pericarditis, Hemolytic anemia... OMIM:619487
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Hypertriglyceridemia, Hypercalcemia, Abnormal h... ORPHA:369837
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy, Leukopenia, Hypoalbuminemia, Neu... OMIM:617303
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly OMIM:251880
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... ORPHA:3260
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, ... OMIM:618183
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Addison Disease
Decreased circulating cortisol level, Normocytic anemia, Increased circulating renin level, Hypon... ORPHA:85138
Sneddon Syndrome
Mental deterioration, Tremor, Bicuspid aortic valve, Lymphopenia OMIM:182410
Poems Syndrome
Polycythemia, Thrombocytosis, Pericardial effusion ORPHA:2905
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259700
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Immunodeficiency 95
Lymphopenia OMIM:619773
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Sudden cardiac death, Hypocalcemic tetany, Dilated cardiomyopathy, ... ORPHA:73224
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Ventricular septal defect, Cardiomegaly, Hyperbilir... OMIM:619991
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... ORPHA:264580
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Abscess, Elevated circulating creatine kinas... ORPHA:36234
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Steatorrhea, Cognitive impairment, Hepatosplenomegaly, Hypertriglyceridem... ORPHA:275761
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, In... OMIM:242150
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Arrhyt... ORPHA:746
Familial Thrombocytosis
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly ORPHA:71493
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... ORPHA:88618
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... OMIM:259720
Diamond-Blackfan Anemia 1
Atrial septal defect, Congenital hypoplastic anemia, Tricuspid stenosis, Ventricular septal defec... OMIM:105650
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal cardiomyocyte morphology, Hepatosplenomegaly, Dilated cardiomyopathy, Hypoalbuminemia ORPHA:367
Al Amyloidosis
Abnormal cardiac ventricle morphology, Howell-Jolly bodies, Increased circulating NT-proBNP conce... ORPHA:85443
Familial Isolated Hypoparathyroidism
Hypocalcemia, Arrhythmia ORPHA:2238
Wilson Disease
Increased circulating copper concentration, Dementia, Hyperbilirubinemia, Hand tremor, Splenomega... OMIM:277900
Dysbetalipoproteinemia
Angina pectoris, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration... ORPHA:412
Immunodeficiency 47
Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Decreased circulating copper conce... OMIM:300972
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Irritability, Hypoalbuminemia OMIM:613070
Smith-Magenis Syndrome
Hypertriglyceridemia, Anxiety, Self-injurious behavior, Hypercholesterolemia ORPHA:819
Noonan Syndrome 12
Ventricular septal defect, Thrombocytopenia, Lymphopenia, Tetralogy of Fallot OMIM:618624
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... ORPHA:37042
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse, Hypocalcemia ORPHA:1563
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperchol... ORPHA:79240
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Low-to-normal blood pressure, Hyp... OMIM:601678
Vipoma
Hypokalemia, Normochromic anemia, Hypercalcemia, Increased circulating cortisol level ORPHA:97282
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Anxiety, Decreased serum iron, Decreased plasma carn... ORPHA:89842
Somatostatinoma
Increased circulating cortisol level, Hypercalcemia, Hypochromic microcytic anemia, Steatorrhea ORPHA:97283
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Reticulocytos... ORPHA:14
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... ORPHA:90363
Glucagonoma
Increased circulating cortisol level, Steatorrhea, Acanthocytosis, Hypercalcemia, Normochromic an... ORPHA:97280
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... OMIM:619846
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Alg12-Cdg
Muscular ventricular septal defect, B lymphocytopenia, Hypocholesterolemia, Biventricular hypertr... ORPHA:79324
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Hypocalcemia OMIM:618476
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... OMIM:613179
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... ORPHA:760
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Steatorrhea OMIM:602579
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Hypertrophic cardiomyopathy, Leukopenia, Hepatosplenomegaly, Patent foramen... ORPHA:505248
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval, Hypercalcemia ORPHA:99880
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:99826
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval, Hypercalcemia ORPHA:143
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:255249
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Hypercholesterolemia ORPHA:69663
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypertrophic cardiomyopathy, Hypoalbuminemia, Progressive neurologic deterioration OMIM:618329
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Anxiety, Writer's cramp, Hyperphosphatemia, Emotional lability ORPHA:428
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Ppoma
Gastrointestinal hemorrhage, Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Patent foramen ovale OMIM:607143
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Cholera
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Abnormal blood ion concen... ORPHA:173
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Perianal abscess, Leukocytosis, Hypochromic anemia OMIM:618213
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Increased circulating cortisol level, Hypercalcemia, Hematochezia ORPHA:913
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Leukopen... ORPHA:2298
Williams Syndrome
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... ORPHA:904
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Abnormal myeloid leukocyte morphology, Cognitive impairment, Hypertriglyceridemia... ORPHA:79259
Pearson Syndrome
Hypomagnesemia, Neutropenia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Splenomegaly, Steatorrh... ORPHA:699
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Hyperlipidemia, Increased LDL cholesterol co... ORPHA:391665
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Irritability, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Grfoma
Gastrointestinal hemorrhage, Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypercalcemia, Periapical tooth abscess ORPHA:437
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Laryngeal dystonia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, ... ORPHA:79444
Ataxia-Telangiectasia
Tremor, Lymphopenia, Cognitive impairment ORPHA:100
Immunodeficiency 44
Lymphopenia OMIM:616636
Bardet-Biedl Syndrome 20
Atrial septal defect, Hypercholesterolemia OMIM:619471
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Multiple Endocrine Neoplasia Type 2
Anxiety, Hypercalcemia ORPHA:653
Sarcoidosis
Eosinophilia, Leukopenia, Hemolytic anemia, Hypercalcemia, Anemia, Thrombocytopenia, Increased T ... ORPHA:797
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Laryngeal dystonia, Irritability, Anxiety, Abnormal platelet function, Hypocalcemic... ORPHA:79443
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Hyperbilirubinemia, Ventricular septal defect, Anemia, Thromb... ORPHA:163979
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Ventricular septal defect, Pericardial lymphangiectasia, Hypoalbuminemia, P... OMIM:235510
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Leukopenia, Elevated circulating creatine kinase concentration, Elliptocytosis, Pan... ORPHA:2785
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:612462
Juvenile Polyposis Of Infancy
Atrial septal defect, Hypoalbuminemia, Refractory anemia, Anemia, Abnormal heart morphology ORPHA:79076
Ethylene Glycol Poisoning
Hypocalcemia, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT in... ORPHA:31826
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Anxiety, Anemia OMIM:184850
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Hypertriglyceridemia, Anemia, Thrombocytopenia OMIM:617591
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Abnormal T-wave, ST segment depression, Hypocalcemia, Raynaud phenom... ORPHA:358
Velocardiofacial Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Aggressive behavior, Emotional labi... OMIM:192430
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Hypocalcemia, Cognitive impairment, Neutropenia, Anemia, Card... ORPHA:175
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Leukocytosis, Brain abscess, Myocarditis, Hemolytic anemia, Hyponatremia, Thrombocy... ORPHA:544482
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hypertension, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Williams-Beuren Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Myxomatous ... OMIM:194050
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Immunodeficiency 36
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... OMIM:616005
Lujo Hemorrhagic Fever
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Resting tremor,... ORPHA:319213
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoplastic spleen, Hyponatremia, Anemia, Thrombocytopenia, Hyperkalemia OMIM:617053
Ataxia-Telangiectasia
Lymphopenia, Elevated alpha-fetoprotein, Intention tremor, Hypoplasia of the thymus, T lymphocyto... OMIM:208900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Multiple Endocrine Neoplasia Type 1
Melena, Hematemesis, Increased circulating cortisol level, Primary hypercortisolism, Hypercalcemi... ORPHA:652
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Exaggerated startle response, Pulmonic stenosis, Eleva... OMIM:253800
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:103580
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Leukocyte Adhesion Deficiency
Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thrombocytosis, Impaired platelet agg... ORPHA:2968
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hypophosphatemia, Hypocalcemia, Splenomegaly, Tremor, Anemia ORPHA:667
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Hypocalcemic tetany, Elevated circulati... ORPHA:411634
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability ORPHA:3198
Legionnaires Disease
Lymphopenia, Splenomegaly, Endocarditis, Myocarditis, Hyponatremia, Pericarditis ORPHA:549
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology ORPHA:2237
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Aggressive behavior, Irritability ORPHA:391307
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Self-injurious behavior, Hypoammonemia, Anxiety, Hyperaldosteronis... ORPHA:534
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration ORPHA:186
Sotos Syndrome
Atrial septal defect, Anxiety, Ventricular septal defect, Tremor, Aggressive behavior, Hypercalce... ORPHA:821
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of na... ORPHA:1830
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Hypoalbuminemia ORPHA:79396
Craniofacioskeletal Syndrome
Ventricular septal defect, Hypocalcemia, Atrial septal defect OMIM:300712
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Atrioventricular canal defect, Ventricular septal d... OMIM:619534
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Visceral Steatosis, Congenital
Hypocalcemia, Myocardial steatosis OMIM:228100
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thrombocytop... ORPHA:466650
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Galloway-Mowat Syndrome 1
Dystonia, Hypoalbuminemia OMIM:251300
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Aggressive behavior, Hypercholesterolemia, Elevated maternal serum alpha-fetoprot... OMIM:309000
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Pericardial effusion, Splenomegaly ORPHA:2136
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Increased serum beta-hexosaminidase, Anxiety, M... ORPHA:845
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Cognitive impairment, Abnormal circulating lipid concentration, Dilated cardiomyopat... OMIM:616541
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Lymphopenia, Atrial septal defect, Elevated circulating C-reactive protein concentra... OMIM:619573
Pierson Syndrome
Hypoproteinemia OMIM:609049
Alagille Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Hypertriglyceridemia, Hyper... OMIM:118450
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Cognitive impairment, Leukopenia, Microangiopathic hemolytic anemia, Thrombocytopeni... ORPHA:93552
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response, Dementia OMIM:272750
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia, Pancytopenia, Anemia OMIM:613658
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... ORPHA:83471
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Secundum atrial septal defect, Splenomegaly, Pulmonic stenosis, Hypoplasia of the th... OMIM:612541
Doors Syndrome
Double outlet right ventricle, Thrombocytosis ORPHA:79500
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal pulmonary valve morphology, Hypocalcemia, Atrial septal defect, Splen... ORPHA:567
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Neutropenia, Anemia, Th... ORPHA:508542
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Atrial septal defect, Splenomegaly, Self-mutilation, Ventricular s... OMIM:270400
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly ORPHA:169160
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Steinert Myotonic Dystrophy
Cognitive impairment, Mental deterioration, Anxiety, Dilated cardiomyopathy, Aggressive behavior,... ORPHA:273
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu... OMIM:618935
Sandhoff Disease
Hepatosplenomegaly, Progressive psychomotor deterioration, Exaggerated startle response, Cardiome... OMIM:268800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Tropical Endomyocardial Fibrosis
Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Eosinophilia, Endocar... ORPHA:75565
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly OMIM:616100
Juvenile Polyposis Syndrome