Gene Summary

Name:
Casitas B-lineage lymphoma
Synonyms:
Cbl-2,  c-Cbl,  4732447J05Rik

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
thick ventricular wall Cbltm1b(EUCOMM)Hmgu HET   Early adult 3.29×10-06
prolonged PR interval Cbltm1b(EUCOMM)Hmgu HET Early adult 9.85×10-08
preweaning lethality, incomplete penetrance Cbltm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

9 Images

Immunophenotyping

Panel B FCS file(s)

9 Images

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... OMIM:607624
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Recurrent tonsillitis, Hypopigmentation of the skin, ... OMIM:214450
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... OMIM:615616
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr... ORPHA:71529
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Hypoplasia of the... OMIM:300400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Kne... OMIM:604416
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Diamond-Blackfan Anemia 17
Anemia, Hyperpigmentation of the skin OMIM:617409
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... ORPHA:293964
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... ORPHA:324575
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 3
Thrombocytosis OMIM:614521
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276580
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Omenn Syndrome
Hepatomegaly, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocyto... OMIM:603554
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... OMIM:614034
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276575
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... OMIM:617885
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Kerion Celsi
Alopecia, Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal enzyme/coenzyme activity, Decreased circulat... ORPHA:171706
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T... ORPHA:277
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... OMIM:614470
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Classic Mycosis Fungoides
Hepatomegaly, Irregular hyperpigmentation, Splenomegaly, Alopecia, Abnormality of the nail, Abnor... ORPHA:2584
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Alopecia, Dysgammaglobulinemia, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Absent axillary hair, Thrombocytopenia OMIM:269600
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increased intraabdom... ORPHA:79085
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Splenomegaly, Leukopenia, White hair, Thrombocytopenia... ORPHA:381
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Low-frequency sensorineural hearing impairment, Hemophagocytosis, Splenomegaly, Abnormal natural ... OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... OMIM:615559
Tietz Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... OMIM:240500
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Mastocy... ORPHA:66661
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Atrial Standstill
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... ORPHA:1344
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... ORPHA:435660
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Partial albi... ORPHA:79477
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Sézary Syndrome
Hepatomegaly, Irregular hyperpigmentation, Splenomegaly, Alopecia, Abnormal immunoglobulin level,... ORPHA:3162
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Death in infancy, Splenomegaly ORPHA:139406
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice, Ly... OMIM:603552
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Hypopigmentation of the skin, Mediastinal lym... ORPHA:158029
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259710
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Generalized ... OMIM:612526
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
X-Linked Sideroblastic Anemia
Anemia, Hyperpigmentation of the skin, Splenomegaly ORPHA:75563
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, T lymphocytopenia, Ridged nail, Nail dystrophy, Nail pits, Decreased helper T cell prop... OMIM:601705
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity OMIM:614962
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hyperpigmentation of the skin, Hypogonad... OMIM:613313
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Hyperpigme... OMIM:609981
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Decreased adi... OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Hypertriglyc... ORPHA:435651
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... OMIM:115197
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Impaired Ig cl... OMIM:605258
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Generalized hypopigmentation, Cirrhosis,... ORPHA:84064
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... OMIM:614963
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Ataxia-Telangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoplasia of the ... OMIM:208900
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:269700
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Sparse hair, Leukopenia, Follicular hyperplasia, Thrombocytosis, Nail dystrophy, Ane... OMIM:615934
Graves Disease, Susceptibility To, 1
Abnormal abdomen morphology, Decreased thyroid-stimulating hormone level, Graves disease, Hyperac... OMIM:275000
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Lymphad... OMIM:618495
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Decreased circulating total IgM, Neutropenia OMIM:610798
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decreased circulating I... OMIM:308240
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Eosinophilia, Large for gestational age, Polyphagia, Obesity OMIM:248100
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Secundum atrial septal defect... OMIM:108800
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... OMIM:310300
Dominant Beta-Thalassemia
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... ORPHA:231226
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... ORPHA:552
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... OMIM:618986
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... OMIM:619802
Poems Syndrome
Hypertrichosis, Leukonychia, Polycythemia, Increased circulating prolactin concentration, Thrombo... ORPHA:2905
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Beta-Thalassemia Major
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg... ORPHA:231214
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly... ORPHA:525731
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Attrv30M Amyloidosis
Cardiomegaly, Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Immunodeficiency 92
Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopenia, Thrombocyto... OMIM:619652
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy ORPHA:37748
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Fair hair, Splenomegaly, Hypopigmentation of the skin, Asci... OMIM:269920
Ataxia-Telangiectasia
Premature graying of hair, Type II diabetes mellitus, Lymphopenia, Multiple cafe-au-lait spots, H... ORPHA:100
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus OMIM:144800
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Enamel hypoplasia, Thrombocytosis, Impaired ... OMIM:243150
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Combined Saposin Deficiency
Hepatomegaly, Death in infancy, Splenomegaly OMIM:611721
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... OMIM:234700
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia OMIM:314050
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... OMIM:615122
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Lipoatrophy, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Ataxia, Hyperinsulinemia, Hepatomegaly, Hyperactivity, Reduc... ORPHA:363400
Sandhoff Disease
Hearing impairment, Hepatomegaly, Splenomegaly ORPHA:796
Candidiasis, Familial, 1
Abnormality of the endocrine system, Cutaneous anergy, Alopecia OMIM:114580
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Harderoporphyria
Hepatomegaly, Splenomegaly, Hemolytic anemia, Hyperpigmentation of the skin, Prolonged neonatal j... OMIM:618892
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Familial Thrombocytosis
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly ORPHA:71493
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Nail dystrophy, T lymphocytopenia OMIM:618806
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Lymphoproliferative Syndrome 1
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hyperpigmentation of the skin OMIM:602390
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Flexion contracture, Splenomegaly, Generalized lipodystrophy, Autoimmune hemolytic ... OMIM:619183
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity, Polyphagia, Obesity ORPHA:411515
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... OMIM:600802
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Galactosemia Iii
Sensorineural hearing impairment, Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt... OMIM:615688
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... OMIM:600309
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Proteus Syndrome
Lymphangioma, Depigmentation/hyperpigmentation of skin, Splenomegaly OMIM:176920
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Cronkhite-Canada Syndrome
Hypoplastic toenails, Hepatomegaly, Patchy alopecia, Splenomegaly, Alopecia, Sparse body hair, Ap... ORPHA:2930
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Decreased circulating a... OMIM:300635
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Summitt Syndrome
Obesity OMIM:272350
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulating IgG level, Sple... OMIM:616100
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Whim Syndrome 1
Decreased circulating IgG level, Abnormal morphology of female internal genitalia, Abnormality of... OMIM:193670
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Abnormality of skin pigmentation, Nail dystrophy, Anemia, Scarring a... ORPHA:79402
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Jaundice, Abnormal helix morphology, Hypoplasia of the thymus, Death in childhood, ... OMIM:214110
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Cholestasis, Abnormality of thrombocytes, Jaundice ORPHA:172
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia OMIM:259730
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Huntington Disease
Gait imbalance, Inability to walk, Decreased body mass index, Gait disturbance, Difficulty walkin... ORPHA:399
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyebrow, Splenomegaly, Sparse eyelashes, Sparse body hair... ORPHA:59303
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... OMIM:618528
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Low-set, posteriorly rotated ears, Neonata... ORPHA:85212
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia OMIM:615986
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Hearing impairment, Ascites,... ORPHA:858
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly, Hypopigmentation of the skin, Hypopigmentation of hair, Cafe-au-lait ... OMIM:618541
Chediak-Higashi Syndrome
Hepatomegaly, Ocular albinism, Hemophagocytosis, Splenomegaly, Hypopigmentation of the skin, Abno... OMIM:214500
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Schaaf-Yang Syndrome
Inability to walk, Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex conge... OMIM:615547
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, ... OMIM:102700
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes ORPHA:97290
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Cupped ear, Bilateral sensorineural hearing impairment, Microtia ORPHA:40366
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Reticular hyperpigmentation, Abnormally low T cell receptor excision circle level, D... OMIM:619767
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... ORPHA:54251
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes ORPHA:319487
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypertrichosis, Hepatosplenomegaly, Hypothyroidism, Microcytic anemia, Decreased circulating anti... OMIM:619750
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Hsd10 Mitochondrial Disease
Hypoglycemia, Choreoathetosis, Abnormal mitochondrial morphology OMIM:300438
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation, Jaundice OMIM:237450
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... OMIM:606407
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Familial Cold Autoinflammatory Syndrome 2
Sensorineural hearing impairment, Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Immunodeficiency 102
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:301082
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Hepatomegaly, Fair hair, Ocular albinism, Splenomegaly, General... OMIM:608233
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypoc... OMIM:259720
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Primum atrial septal defect, Left-to-right shunt,... ORPHA:1329
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Death in childhood, Pancytopenia, Low-set ears, T... OMIM:610333
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
Felty Syndrome
Hepatomegaly, Irregular hyperpigmentation, Splenomegaly, Abnormal lymphocyte morphology, Thromboc... ORPHA:47612
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sensorineural hearing impairment, Hepatomegaly, Lymphopenia, Cryptorchidism, Splenomegaly, Hypopl... OMIM:612541
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Death in infancy, Splenomegaly OMIM:608540
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Abnormality of the lymp... ORPHA:911
Hurler-Scheie Syndrome
Generalized hirsutism, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Hernia ORPHA:93476
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Pancreatitis, Hepa... ORPHA:280365
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
6Q16 Microdeletion Syndrome
Broad-based gait, Obesity, Polyphagia ORPHA:171829
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Death in childhood, Sil... OMIM:256710
Abcd Syndrome
Polycythemia, Neonatal death, Albinism, White eyelashes, White eyebrow, Abnormal auditory evoked ... OMIM:600501
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta, Lymphadenopathy OMIM:612783
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Ascites, Hepatomegaly, Iron deficiency anemia OMIM:226300
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... ORPHA:79301
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Multiple joint contractures, Gait disturbance, Difficulty walking, Decreased mitoc... ORPHA:352470
Immunodeficiency 32B
Splenomegaly OMIM:226990
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Cholestasis, Prolonged neonatal... ORPHA:79303
Trichohepatoenteric Syndrome 1
Hepatomegaly, Sparse hair, Woolly hair, Splenomegaly, Brittle hair, Cirrhosis, Trichorrhexis nodo... OMIM:222470
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hypothermia, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Pe... OMIM:251880
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... OMIM:115195
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Hearing impairment, Jaundice OMIM:619658
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Iris hypopigmentation, Abnormality of skin pigmentation, Ascites ORPHA:834
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules, Albini... OMIM:614072
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Ovarian neoplasm, Hypopigmentation of hair, F... ORPHA:2221
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia OMIM:601457
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Low-set, posteriorly rotated ears, Abnormal toenail morph... ORPHA:30
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... ORPHA:2298
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Vici Syndrome
Sensorineural hearing impairment, Decreased circulating IgG level, Ocular albinism, Hypopigmentat... OMIM:242840
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Splenomegaly, Pancytopenia, Anemia, Panniculitis OMIM:618398
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... OMIM:616278
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231000
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Deafness-Lymphedema-Leukemia Syndrome
Sensorineural hearing impairment, Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative di... ORPHA:3226
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin, Hepatomegaly, Lymphocytosis, Myeloproliferative di... ORPHA:79456
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... OMIM:151660
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Splenomegaly ORPHA:29
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Barth Syndrome
Abnormality of neutrophils, Abnormal mitochondrial morphology ORPHA:111
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Granulomatous Disease, Chronic, Autosomal Recessive,