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Gene: Cand1 MGI:1261820

Gene Summary

Name:

cullin associated and neddylation disassociated 1

Synonyms:

D10Ertd516e, 6330512O03Rik, 2310038O07Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
embryonic growth retardation	Cand1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal spleen morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal heart morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
decreased heart rate	Cand1^em1(IMPC)Mbp	HET	Late adult	3.02×10^-05
abnormal gallbladder morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
increased fasting circulating glucose level	Cand1^em1(IMPC)Mbp	HET	Early adult	1.23×10^-09
edema	Cand1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Cand1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal uterus morphology	Cand1^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Cand1^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Cand1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal craniofacial morphology	Cand1^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged gallbladder	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
small kidney	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
absent seminal vesicle	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged lymph nodes	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta morphology	Cand1^em1(IMPC)Mbp	HET	E15.5	0.00
enlarged seminal vesicle	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged heart	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
edema	Cand1^em1(IMPC)Mbp	HET	E15.5	0.00
enlarged spleen	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal kidney morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal lymph node morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal ovary morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
small heart	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00

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Viewing: all phenotypes

Gross Morphology Embryo E14.5-E15.5

Images

14 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Cand1 mutations

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

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

Human diseases associated with Cand1 (0 diseases)
Human diseases predicted to be associated with Cand1 (1348 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cand1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Lipedema	Edema	OMIM:614103
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Angioedema, Hereditary, 6	Facial edema, Edema of the dorsum of hands, Angioedema	OMIM:619363
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal...	ORPHA:848
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas...	OMIM:619048
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Hemolytic anemia, Renal...	OMIM:603903
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Micropenis, Hyp...	OMIM:618815
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Ethanolaminosis	Cardiomegaly	OMIM:227150
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundi...	OMIM:211600
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Gombo Syndrome	Microphthalmia	OMIM:233270
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Trimethylaminuria	Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Glycogen Storage Disease Iv	Hepatic failure, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Tub...	OMIM:232500
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Green urine, Decreased liver function	OMIM:614156
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618235
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Biliary Atresia, Extrahepatic	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Atretic gallbladder, Ci...	OMIM:210500
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Myotonic Dystrophy 1	Cholelithiasis, Atrial flutter, Hypogonadism, First degree atrioventricular block, Testicular atr...	OMIM:160900
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure...	OMIM:235200
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia	OMIM:300752
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri...	ORPHA:210122
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges...	OMIM:613313
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Elevated circulating hepatic transa...	OMIM:212138
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo...	OMIM:602390
Cerebrooculofacioskeletal Syndrome 3	Edema, Microphthalmia	OMIM:616570
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616276
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Wild Type Attr Amyloidosis	Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:330001
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ...	ORPHA:77259
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden...	ORPHA:858
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat...	OMIM:618775
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Nanophthalmos	Microphthalmia	ORPHA:35612
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Bradycardi...	OMIM:616277
Nanophthalmos 4	Microphthalmia	OMIM:615972
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Ventricular f...	OMIM:115197
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Congestive heart failure	OMIM:300886
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Cholelithiasis, Cirrhosis, Decreased liver function	ORPHA:79278
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomega...	OMIM:269920
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch...	ORPHA:79301
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein...	OMIM:620010
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Bradycardia, Pericardial effusion	OMIM:614702
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi...	OMIM:602347
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic aciduria, Sev...	OMIM:620646
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:608540
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnorma...	OMIM:614886
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Decreased erythrocy...	OMIM:611881
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dark urine, Jaundice, Pa...	ORPHA:521219
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ...	OMIM:612965
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Arrhythmia	ORPHA:171876
Sialuria	Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel...	ORPHA:3166
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Kerion Celsi	Lymphadenopathy	ORPHA:499
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Pentalogy Of Cantrell	Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Ventricula...	ORPHA:1335
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hemolytic anemia, Hepatic failure	OMIM:177000
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis...	OMIM:608800
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Hypoplasi...	ORPHA:40366
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca...	OMIM:261740
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Congestive heart failure, Splenomegaly, Cholecystitis, Macrocy...	OMIM:615512
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Pulmonary arte...	OMIM:616299
Attrv30M Amyloidosis	Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal renal phy...	ORPHA:85447
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Sandhoff Disease	Hepatomegaly, Splenomegaly, Congestive heart failure	ORPHA:796
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome,...	OMIM:105200
Distal Duplication 5Q	Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, H...	ORPHA:96097
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Cirrhotic Cardiomyopathy	Congestive heart failure, Ascites, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary...	ORPHA:57777
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re...	ORPHA:288
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li...	OMIM:256550
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglo...	OMIM:232800
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ...	OMIM:617397
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk...	OMIM:612840
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Hematochezia, Cholelithiasis, Elevated circulating hepatic transaminas...	ORPHA:79095
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism, Hydronephrosi...	ORPHA:96092
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology...	ORPHA:3092
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Cervical lymphadenopathy, Elevated circulating...	OMIM:614034
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Bradycardia	OMIM:614654
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista...	OMIM:262190
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, Ve...	OMIM:600649
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis, Female hypogonadism, Male hypogonadism, Cholelithiasis, Chronic active hepatiti...	OMIM:240300
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno...	OMIM:267010
Adams-Oliver Syndrome 4	Umbilical hernia, Microphthalmia	OMIM:615297
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morpho...	ORPHA:54251
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega...	OMIM:237800
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El...	OMIM:613812
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
46,Xy Sex Reversal 11	Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female...	OMIM:273250
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:97290
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Retinal hemorrhage, Hematuria, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, E...	ORPHA:99827
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:319487
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomega...	ORPHA:83469
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia	ORPHA:309108
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Hepatic failure, Elevated circulating hepatic tra...	ORPHA:398124
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur...	ORPHA:335
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati...	ORPHA:400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogo...	ORPHA:465508
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy...	OMIM:618886
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Meckel Syndrome, Type 6	Hepatic fibrosis, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Renal cyst, Abnormal inter...	OMIM:612284
Wolman Disease	Hepatomegaly, Splenomegaly, Acute hepatic failure	OMIM:620151
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy	ORPHA:79292
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Bradycardia	ORPHA:95717
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Hypogonadism, Arrhythmia, Cardiomyopathy, Bradycardia	OMIM:609286
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly, T...	OMIM:616589
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec...	OMIM:618652
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Cholestasis, Splenomegaly	ORPHA:172
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Xk Aprosencephaly Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3469
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Lymphadenopathy	ORPHA:50251
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart failure, Ele...	OMIM:212140
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Sepsis In Premature Infants	Hypotension, Oliguria, Decreased liver function, Reversible renal failure, Splenomegaly, Leukocyt...	ORPHA:90051
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive...	OMIM:614096
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Lymphadenopathy, Myocarditis,...	ORPHA:3386
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e...	ORPHA:75566
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype...	ORPHA:2414
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic biliary duct...	OMIM:601346
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Vasculitis, Chronic noninfectious lymphadenopathy, Follic...	OMIM:603909
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Aapoaiv Amyloidosis	Chronic kidney disease, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosi...	ORPHA:439232
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic steatosis, Prolong...	OMIM:613327
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A...	ORPHA:199310
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Retinitis Pigmentosa 89	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ...	OMIM:618955
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Abnorma...	ORPHA:97261
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Babesiosis	Hepatic failure, Congestive heart failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombo...	ORPHA:108
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Renal insufficiency, Splenomega...	ORPHA:549
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly, Intermittent jaundice	OMIM:179700
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micropenis, Decreased testicular size, Cholelithiasis, Cryptorchidism	OMIM:300534
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Insulin insensitivity, Bifid scrotum, Bilateral cryptorchidism, Azoospermia...	ORPHA:90797
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulon...	ORPHA:99931
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy	ORPHA:100083
Mmep Syndrome	Microphthalmia	ORPHA:3434
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618495
Cimdag Syndrome	Hypogonadism, Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Lymphoproliferative Syndrome, X-Linked, 1	Vasculitis, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen...	OMIM:308240
Gray Platelet Syndrome	Epistaxis, Splenomegaly, Thrombocytopenia	ORPHA:721
Necrotizing Enterocolitis	Hypotension, Abnormal heart morphology, Shock, Ascites, Leukocytosis, Peritonitis, Neutropenia, B...	ORPHA:391673
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormal liver parenchyma morphology, Abnormality of the pancreas, ...	ORPHA:3032
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Porphyria, Congenital Erythropoietic	Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Red u...	OMIM:263700
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616329
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmu...	OMIM:601859
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly, Elevated circulating hepatic transam...	OMIM:619064
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,...	OMIM:619644
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Reduced left ventricular...	OMIM:201475
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defec...	ORPHA:2255
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos...	OMIM:606003
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to growth hormone stimulation...	OMIM:602782
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ...	ORPHA:1677
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Bradycardia, Goiter	ORPHA:226313
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells	OMIM:607616
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Roifman Syndrome	Hepatosplenomegaly, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Ly...	ORPHA:353298
Neuroendocrine Tumor Of The Colon	Abnormal pulmonary valve cusp morphology, Hypotension, Elevated circulating hepatic transaminase ...	ORPHA:100080
Roifman Syndrome	Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa...	OMIM:616651
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Gaucher Disease	Splenic infarction, Aortic valve calcification, Cholelithiasis, Hepatic failure, Hepatitis, Abnor...	ORPHA:355
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Ovarian Fibroma	Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteri...	ORPHA:314473
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Abnorma...	ORPHA:97278
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors...	ORPHA:3097
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Bradycardia, Goiter	ORPHA:95716
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto...	ORPHA:79312
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Trisomy 8P	Nephrocalcinosis, Annular pancreas, Tetralogy of Fallot, Abnormal left ventricle morphology, Hear...	ORPHA:264450
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Ventricular septal defect, Hydronephrosis, Pulmona...	ORPHA:464738
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladder, Biliary atresi...	OMIM:615710
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat...	OMIM:614921
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Ventri...	OMIM:618268
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Microphthalmia	ORPHA:1528
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Internal hemorrhage, Lymphadenopathy, Thrombocytopenia, Anemia,...	ORPHA:69077
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
22Q11.2 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Polycystic k...	ORPHA:567
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Urinary retention, Cardiomegaly, Abnormal cardiac septum morpho...	ORPHA:97297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Telangiectasia of the skin, Lymphaden...	ORPHA:99812
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly...	ORPHA:824
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryp...	ORPHA:2075
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Anemia, Atrial sep...	ORPHA:163979
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc...	OMIM:615234
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Scrub Typhus	Hypotension, Renal insufficiency, Splenomegaly, Lymphadenopathy, Myocarditis	ORPHA:83317
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Elevated circulating hepat...	OMIM:615895
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu...	ORPHA:97287
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase c...	OMIM:619463
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinur...	ORPHA:36412
Lathosterolosis	Intrahepatic cholestasis, Hepatic fibrosis, Horseshoe kidney, Elevated circulating aspartate amin...	OMIM:607330
Mulibrey Nanism	Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardi...	OMIM:253250
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal heart valve morphology, Hyper...	ORPHA:77293
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j...	OMIM:618892
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Pancreatic hypoplasia,...	OMIM:600001
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality...	ORPHA:2072
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He...	ORPHA:160
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ...	OMIM:613490
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen...	OMIM:257200
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion	OMIM:613885
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Decreased liver function, Ascites, Hepatosplenomegaly, ...	ORPHA:98850
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom...	OMIM:607361
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus	OMIM:606176
Neuroendocrine Tumor Of The Rectum	Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, E...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, E...	ORPHA:100082
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Jaundice, Tachycardia, Shock, Abnormal lympho...	ORPHA:99826
Glycogen Storage Disease Ii	Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Hepatomegaly, Subarachnoid ...	OMIM:232300
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ...	ORPHA:158057
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Drug-Induced Autoimmune Hemolytic Anemia

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Gene: Cand1 MGI:1261820

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Human diseases caused by Cand1 mutations