Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
plasmalemma vesicle associated protein
Synonyms:
PV-1,  MECA32

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Pericardial effusion, Ascites, Anasarca, Hypocalcemia, Polyhydramnios, Hypomagnesem... OMIM:618183

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hypoproteinemia, Growth delay, Hyperlipidemia, Small for gestational age, Conge... OMIM:256300
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Esophageal varix, Abdominal distention, Bone-marrow foam cells,... ORPHA:275761
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Edema, L... OMIM:616000
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Low pulse pressure, Edema, Lipodystro... ORPHA:86816
Familial Chylomicronemia Syndrome
Nausea and vomiting, Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Episodic abdomina... ORPHA:444490
Hyperlipoproteinemia, Type I
Vomiting, Hyperlipidemia, Nausea, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterole... OMIM:238600
Ménétrier Disease
Hypoproteinemia, Anorexia, Stomach cancer, Vomiting, Helicobacter pylori infection, Nausea, Abnor... ORPHA:2494
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Abnormal intestine morphology, Hepatomegaly, Growth delay, Pneumonia, Ascites, V... OMIM:226300
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoproteinemia, Abnormal intestine morphology, Anorexia, Vomiting, Edema, Hypoalbuminemia... OMIM:600351
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Anemia, Splenomegaly ORPHA:46532
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Accelerated atherosclerosis, Type IV ather... ORPHA:412
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Vomiting, Hyperlipidemia, Failure to thrive, Hypercholesterolemia, Hypoalbuminem... OMIM:615863
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipo... OMIM:612526
Glycogen Storage Disease Ia
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Xanthomatosis, Hyperlipidemia, He... OMIM:232200
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Reduced circula... ORPHA:90363
Chylomicron Retention Disease
Growth delay, Vomiting, Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea,... OMIM:246700
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Edema, Stage 5 chronic kidney d... OMIM:603278
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hyperlipidemia, Edema, Stage 5 chronic ki... OMIM:600995
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Pericardial effusion, Ascites, Increased stool alpha1-antitryps... ORPHA:90362
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Oligohydramnios, Congest... ORPHA:163596
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hypoproteinemia, Hydronephrosis, Cleft palate, High palate, Hepatomeg... OMIM:235255
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia, Diarrhea, Hypoproteinemic edema OMIM:226200
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Growth delay,... ORPHA:567548
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Hepatomegaly, Intrauterine growth retardation, Ascites, Vomiting, Failure to thr... OMIM:608104
Glycogen Storage Disease Ib
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Xanthomatosis, Hyperlipidemia, He... OMIM:232220
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hypoproteinemia, Hydronephrosis, High palate, Hepatomegaly, Ascites, ... ORPHA:1655
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Intrauterine growth retardation, Ascites, Failure to thrive, Ci... OMIM:617156
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen content, Short st... ORPHA:79259
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Edema, Abdominal distention, Weight loss, Abno... ORPHA:103910
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Growth delay, Ascites, Malabsorption, Splenomeg... ORPHA:100025
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, P... OMIM:615703
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hyperammonemia, Jaundice, Vomiting, Anteriorly placed anus, Hypoproteinem... ORPHA:26793
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hypertension, Hepatomegaly, Loss of subcutaneous adipose tissue ... OMIM:608600
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia,... OMIM:277460
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Refractory Celiac Disease
Jejunitis, Hypoproteinemia, Hypoalbuminemia, Villous atrophy, Weight loss, Hypophosphatemia, Mala... ORPHA:398063
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Growth delay OMIM:306000
Eosinophilic Gastroenteritis
Dysphagia, Ascites, Vomiting, Edema, Weight loss, Malabsorption, Abnormality of the gastrointesti... ORPHA:2070
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Portal fibrosis, Hepatocellular carcinoma, Hyperlipide... ORPHA:369
Isolated Polycystic Liver Disease
Hepatomegaly, Feeding difficulties in infancy, Abdominal distention, Increased total bilirubin, P... ORPHA:2924
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Short stature, Increased LDL cholesterol c... OMIM:607616
Atherosclerosis Susceptibility
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Abdominal distention, Renal cyst, Increased total bilirubin, Polycystic liver disease OMIM:174050
Temple Syndrome
Cleft palate, High palate, Intrauterine growth retardation, Small for gestational age, Short stat... OMIM:616222
Johanson-Blizzard Syndrome
Hypospadias, Hypoproteinemia, Hydronephrosis, Absent lacrimal punctum, Intrauterine growth retard... ORPHA:2315
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Edema, Stage 5 chronic kidney disease, Hy... OMIM:615573
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Renal insufficiency, Abdominal pain, Increased ... ORPHA:890
Dengue Fever
Cerebral hemorrhage, Hypoproteinemia, Nausea and vomiting, Hepatomegaly, Ascites, Epistaxis, Gast... ORPHA:99828
Sitosterolemia 2
Hypercholesterolemia, Premature coronary artery atherosclerosis, Elevated circulating sitosterol ... OMIM:618666
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume, Pallor OMIM:615234
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Failure to thrive, Malabsorption, Splenomegaly, Cholestasis, Hypocal... ORPHA:172
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Xanthomatosis, Abnormal circulating lipid concentration,... ORPHA:425
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Small for gestational age, Atretic gallbladder, Bile duct prolifera... ORPHA:30391
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic anemia, Atrial septal def... ORPHA:49827
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Edema, Hypoalbuminemia, Chroni... OMIM:614131
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... ORPHA:90064
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Dysphagia, Abnormal esophagus physiology, Abnormal large intestine morpholog... ORPHA:2198
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Tendon xanthomatosis, Abnormal LDL cholesterol concentration OMIM:603776
Cerebrotendinous Xanthomatosis
Pseudobulbar paralysis, Abnormal circulating cholesterol concentration, Angina pectoris, Cholelit... OMIM:213700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Feeding difficulties in infancy, Short stature, Hepatic steatosis, Hepatosplenomegaly, Oligohydra... OMIM:619013
Lymphangiectasia, Intestinal
Edema, Malabsorption, Intestinal lymphangiectasia, Pedal edema, Neonatal hypoproteinemia OMIM:152800
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... OMIM:144010
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Enterocolitis, Villous atrophy, Short stature, Failure to thrive... OMIM:616050
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Hypertriglyceridemia, ... OMIM:610947
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Ascites, Nephrotic syndrome, Ptosis, Failure to thrive, Epicanthus, Sp... OMIM:269920
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Anemia, Increased nuchal translucency, Thrombocytopenia, Hy... ORPHA:295
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Ascites, Nausea, Abnormality of the liver, Renal insufficiency OMIM:240150
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Pericardial effusion, Ascites, Anasarca, Hypocalcemia, Polyhydramnios, Hypomagnesem... OMIM:618183
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Esophageal varix, Splenomegaly, Arteriosclerosis, Hypercholest... ORPHA:75234
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Pallo... OMIM:615631
Secondary Short Bowel Syndrome
Abdominal distention, Volvulus, Steatorrhea, Malnutrition, Small intestinal dysmotility, Intestin... ORPHA:95427
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... OMIM:616516
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Failure to thrive, Edema, Increased total bilirubin,... OMIM:603553
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Glycogen Storage Disease Ic
Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Xanthomatosis, Hepatomegaly,... OMIM:232240
Mpi-Cdg
Portal hypertension, Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Edema, Decrease... ORPHA:79319
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Facial edema, Microscopic hematuria, Palpebral edema, Pulmonary embolism, Chronic... ORPHA:567546
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Ptosis, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616828
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Cardiomyopathy, ... OMIM:610717
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Galloway-Mowat Syndrome 6
High palate, Nephrotic syndrome, Short stature, Epicanthus, Decreased body weight, Hypoalbuminemi... OMIM:618347
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Malabsorption, Lymphedema ORPHA:1116
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma, Tendon xanthomatosis, Coronary artery ather... OMIM:143890
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Feeding difficulties in infancy, Generalized aminoaciduria, Hepatocellular necrosis... OMIM:251880
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Nephrotic syndrome, Microscopic hematuria, Hypoalbuminemia, Pe... ORPHA:84090
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Xanthomatosis, Susceptibility To
Hypercholesterolemia, Xanthomatosis OMIM:602247
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Vomiting, Failure to thrive, Cirrhosis, Hepatic ... OMIM:602579
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... OMIM:144300
Alg6-Cdg
Macroglossia, Feeding difficulties, Failure to thrive, Abnormality of the liver, Hypoalbuminemia,... ORPHA:79320
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Generalized edema, Aplasia cutis congenita over the... OMIM:207731
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Anemia, Congestive heart failure, Hydrops fetalis OMIM:236750
Primary Membranoproliferative Glomerulonephritis
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Myocardial infarction, Acute ki... ORPHA:54370
Juvenile Polyposis Syndrome
Spontaneous, recurrent epistaxis, Neoplasm of the small intestine, Pulmonary arteriovenous malfor... ORPHA:2929
Ppoma
Increased circulating cortisol level, Neoplasm of the small intestine, Intestinal carcinoid, Gast... ORPHA:97278
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Feeding difficulties in infancy, Nonimmune hydrops fetalis, Pericardial effusion, N... OMIM:212065
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Micros... OMIM:619155
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Ptosis, Edema, Stage 5 chronic kidney dis... OMIM:617575
Lipodystrophy, Familial Partial, Type 4
Hypertension, Lipoatrophy, Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Hydrop... OMIM:613673
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Hypertriglyceridemia, Tuberous xanthoma OMIM:246650
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Polycystic ovaries,... ORPHA:280356
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia, Anal atresia OMIM:614044
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Hyperlipoproteinemia, Type V
Decreased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:144650
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Erdheim-Chester Disease
Nausea and vomiting, Hydronephrosis, Ptosis, Retroperitoneal fibrosis, Dysuria, Weight loss, Rena... ORPHA:35687
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Wolman Disease
Nausea and vomiting, Hepatomegaly, Cachexia, Esophageal varix, Ascites, Growth delay, Abdominal d... ORPHA:75233
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Chronic diarrhe... OMIM:618805
Hereditary Angioedema Type 1
Tongue edema, Dysphagia, Laryngeal edema, Pharyngeal edema, Intestinal edema, Vomiting, Nausea, H... ORPHA:100050
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Edema, Splenomegaly, Jaundice, Increased circulating ferritin concentration, Hypert... OMIM:603552
2P21 Microdeletion Syndrome
Growth delay, Failure to thrive, Long eyelashes, Nephrolithiasis, Cystinuria, Hypocalcemia ORPHA:163693
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia OMIM:615883
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Hypocalcemia OMIM:615361
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Nonimmune hydrops fetalis, Esophageal varix, Ascites, Failu... ORPHA:367
Grfoma
Increased circulating cortisol level, Neoplasm of the small intestine, Intestinal carcinoid, Gast... ORPHA:97261
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Gastrointestinal hemorrhage, Hepatosplenome... ORPHA:247598
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Short stature, Failure to thrive, Weight loss, Hepatitis, Malabsorpti... ORPHA:47
Alg8-Cdg
Hyponatremia, Intrauterine growth retardation, Ascites, Vomiting, Macroglossia, Feeding difficult... ORPHA:79325
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertension, Hypertriglyceridemia, Obesity, Childhood-onset truncal ob... ORPHA:71529
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Short stature ORPHA:366
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypercholesterolemia, Tendon xanthomatosis, Hypertrigly... OMIM:603813
Hyperlipoproteinemia, Type Id
Hepatomegaly, Failure to thrive, Hyperlipoproteinemia, Splenomegaly, Colitis OMIM:615947
Lysosomal Acid Lipase Deficiency
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steato... OMIM:278000
Omenn Syndrome
Hypoproteinemia, Hepatomegaly, Pneumonia, Failure to thrive, Hypoplasia of the thymus, Splenomega... OMIM:603554
Angioedema, Hereditary, 3
Pharyngeal edema, Vomiting, Intestinal edema, Angioedema, Facial edema, Episodic abdominal pain OMIM:610618
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, High palate, Hypertriglyceridemia OMIM:618010
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Edema, Tubulointerstitial fibrosis, Hypoa... OMIM:614196
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Ascites, Weight loss, Hernia, Abnormali... ORPHA:26790
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone level, Constipation OMIM:301033
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia OMIM:614480
Hypertriglyceridemia 1
Atheroeruptive xanthoma, Increased VLDL cholesterol concentration, Precocious atherosclerosis, Hy... OMIM:145750
Hyperlipoproteinemia, Type Iv
Atheroeruptive xanthoma, Increased VLDL cholesterol concentration, Precocious atherosclerosis, Hy... OMIM:144600
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Ascites, Polyhydramnios, Renal insufficiency, Hydrops fetalis ORPHA:2123
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Cirrhosis, Familial
Hypertension, Esophageal varix, Increased level of L-fucose in urine, Increased level of propylen... OMIM:215600
Apolipoprotein C-Iii Deficiency
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Increased HDL cholesterol concentra... OMIM:614028
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Enamel hypoplasia, Hypoalbumin... OMIM:618349
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Edema, Stage 5 chronic kidney disease, Hy... OMIM:610725
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Hypoalbuminemia ORPHA:88643
Hemochromatosis, Type 1
Increased serum iron, Telangiectasia, Hepatomegaly, Testicular atrophy, Ascites, Hepatocellular c... OMIM:235200
Xfe Progeroid Syndrome
Hypertension, Cachexia, Ascites, Absence of subcutaneous fat, Dermal atrophy, Severe short statur... OMIM:610965
Somatostatinoma
Increased circulating cortisol level, Neoplasm of the small intestine, Gastrointestinal hemorrhag... ORPHA:97283
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Gastrostomy tube feeding in infancy, Skin erosion, Atypical scarring of s... ORPHA:89842
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Small for gestational age, Failure to thrive, Feeding difficulties, Edema, Rhizomeli... OMIM:607143
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Edema, Hypoalbuminemia, Chronic kidney disease, Diffuse mesangial sclerosis, ... OMIM:615244
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Sideroblastic anemia, Oligohydramnios, Thrombocytopenia,... OMIM:617021
Al Amyloidosis
Abdominal distention, Gastroparesis, Gastrointestinal hemorrhage, Abnormal EKG, Pulmonary interst... ORPHA:85443
Galactosemia
Hepatomegaly, Hypergalactosemia, Ascites, Vomiting, Failure to thrive, Feeding difficulties, Incr... ORPHA:352
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Hypokalemia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption,... OMIM:175500
Beta-Thalassemia
Hypertrophic cardiomyopathy, Abnormal hemoglobin, Anemia, Splenomegaly, Microcytic anemia, Thromb... ORPHA:848
Bacterial Toxic-Shock Syndrome
Myocarditis, Fasciitis, Hepatitis, Diarrhea, Abdominal pain, Capillary leak, Vomiting, Respirator... ORPHA:36234
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures,... ORPHA:36913
Cirrhotic Cardiomyopathy
Ventricular arrhythmia, Third heart sound, Pulmonary edema, Conjunctival icterus, Jaundice, Globa... ORPHA:57777
Legius Syndrome
Non-small cell lung carcinoma, Ovarian neoplasm, Paroxysmal atrial tachycardia, Male urethral mea... ORPHA:137605
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Lung abscess, Protracted diarrhea, Gastrointestinal d... ORPHA:67
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Hepatitis, Splenomegaly, Increased circulating... OMIM:300635
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Hypoalbuminemia, Bronchiectasis OMIM:241600
Vipoma
Increased circulating cortisol level, Primary hyperparathyroidism, Intrahepatic cholestasis, Para... ORPHA:97282
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Growth delay, Ascites, Short stature, Hyperbilirubinemia, Hyperammone... ORPHA:1667
Liver Failure, Infantile, Transient
Hepatomegaly, Feeding difficulties in infancy, Microvesicular hepatic steatosis, Vomiting, Abdomi... OMIM:613070
Alg1-Cdg
Nephrotic syndrome, Cardiomyopathy, Chronic diarrhea, Decreased liver function, Abnormality of th... ORPHA:79327
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Edema, Anemia, Hepatosplenomegaly, Atrial septal defec... ORPHA:101028
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Recurrent upper respiratory tract inf... OMIM:613101
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Growth delay, Failure to thrive, Hyperbilirubinemia, Hyp... OMIM:605814
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Cleft palate, High palate, Minimal ch... OMIM:616730
Sialidosis Type 2
Hepatomegaly, Ascites, Short stature, Inguinal hernia, Splenomegaly, Flexion contracture, Nephrop... ORPHA:87876
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Micropenis, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension... OMIM:619487
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Intrauterine growth retardat... ORPHA:255249
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Abdominal symptom, Pseudohypop... ORPHA:94090
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain, Splenomegaly OMIM:118830
Glycogen Storage Disease Iv
Esophageal varix, Ascites, Failure to thrive, Edema, Tubulointerstitial fibrosis, Arthrogryposis ... OMIM:232500
Growth Hormone Insensitivity Syndrome
Short stature, Failure to thrive, Truncal obesity, Hypercholesterolemia, Hypoplasia of penis ORPHA:181393
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Xanthoma... ORPHA:2348
Oculoskeletodental Syndrome
Hypercalcemia, Mucopolysacchariduria, Hepatomegaly, Small for gestational age, Short stature, Mac... OMIM:618440
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Ptosis, Abdominal distention... ORPHA:298
Hypotonia-Cystinuria Syndrome
Feeding difficulties in infancy, Ptosis, Failure to thrive, Long eyelashes, Nephrolithiasis, Cyst... OMIM:606407
Immunodeficiency 27A
Anorexia, Pneumonia, Weight loss, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Diarrhea OMIM:209950
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Vomiting, Failure to thrive, Hematuria, Abdominal distention, Weigh... ORPHA:35710
Angioedema, Hereditary, 1
Pharyngeal edema, Vomiting, Intestinal edema, Angioedema, Diarrhea, Laryngeal edema, Abdominal pain OMIM:106100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Chole... OMIM:619658
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Short stature, Abdominal sympt... ORPHA:94089
Glycerol Kinase Deficiency
Growth delay, Small for gestational age, Short stature, Increased urinary glycerol, Hypertriglyce... OMIM:307030
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Skin dimple, Flexion contracture, Cryptorchidism, Jaundice OMIM:608093
Glucagonoma
Stomatitis, Increased circulating cortisol level, Gastrointestinal hemorrhage, Primary hyperparat... ORPHA:97280
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Failure to thrive, Lipodystrophy, Polycy... ORPHA:528
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Hypertension, High palate, Intrauterine growth retardation, Nephrotic syndrome, ... OMIM:617729
Double Outlet Right Ventricle
Narrow palpebral fissure, Cleft palate, Hypoparathyroidism, Short stature, Submucous cleft hard p... ORPHA:3426
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... OMIM:600462
Hepatoportal Sclerosis
Esophageal varix, Ascites, Hepatocellular carcinoma, Hyperbilirubinemia, Gastric varix, Splenomeg... ORPHA:64743
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations ORPHA:488650
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Polyhydramnios, Elevated fecal sodium,... OMIM:616868
Lipodystrophy, Familial Partial, Type 3
Hypertension, Decreased HDL cholesterol concentration, Loss of subcutaneous adipose tissue in lim... OMIM:604367
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Ci... OMIM:271500
Hepatocellular Carcinoma
Esophageal varix, Hemobilia, Abdominal distention, Abnormality of the hepatic vasculature, Portal... ORPHA:88673
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Trichohepatoenteric Syndrome 1
Hypospadias, Short stature, Diarrhea, Hypermethioninemia, Jaundice, Villous atrophy, Hepatic fibr... OMIM:222470
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hypertension, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin ORPHA:3319
Necrotizing Enterocolitis
Shock, Hyponatremia, Bloody diarrhea, Ascites, Vomiting, Peritonitis, Small for gestational age, ... ORPHA:391673
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Hepatomegaly, Loss of subcutaneous adipose tissue in l... ORPHA:79083
Caroli Disease
Cholangitis, Esophageal varix, Cholangiocarcinoma, Splenomegaly, Conjugated hyperbilirubinemia, C... ORPHA:53035
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Proteinuria, Hypertriglyceridemia, Foam cells, Renal ins... OMIM:245900
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Macule, Intrauterine growth retardation, Ascites, Dia... ORPHA:858
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Anasarca, Anal atresia, Congestive heart failure, Exocrine pancreatic insufficiency OMIM:260450
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso... OMIM:613662
Congenital Lethal Erythroderma
Failure to thrive, Malabsorption, Hypoalbuminemia ORPHA:1954
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Edema, Hematuria, Gastrointestinal hemorrhage, Abnormality of the pulmonar... ORPHA:90308
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Cleft palate, High palate, Intrauterine growth retardation, Small for gestation... ORPHA:96184
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Leishmaniasis
Hepatomegaly, Skin plaque, Anorexia, Weight loss, Splenomegaly, Papule, Hypoalbuminemia, Skin ulcer ORPHA:507
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Intrauterine growth retardation, Feeding difficulties, Hypercholesterolemia, Postnat... ORPHA:254531
Griscelli Syndrome
Hypopigmented skin patches, Pyloric stenosis, Hepatomegaly, Ascites, Short stature, Abnormal circ... ORPHA:381
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Intrauterine growth re... OMIM:615710
Pearson Syndrome
Lacticaciduria, Cardiac conduction abnormality, Hypophosphatemia, Splenomegaly, Postnatal growth ... ORPHA:699
Alg12-Cdg
Hypospadias, Hyponatremia, Intrauterine growth retardation, Hypocholesterolemia, Feeding difficul... ORPHA:79324
Ring Chromosome 10 Syndrome
Cachexia, Aganglionic megacolon, Intrauterine growth retardation, Downslanted palpebral fissures,... ORPHA:1438
Colchicine Poisoning
Myocarditis, Hyponatremia, Hypokalemia, Vomiting, Nausea, Hypophosphatemia, Cardiogenic shock, Hy... ORPHA:31824
Retinitis Pigmentosa 42
Pallor OMIM:612943
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Esophageal varix, Portal fibrosis, Splenomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Hepatocell... ORPHA:370
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hepatomegaly, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Reduc... ORPHA:363400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Increased adipose tissue around the neck, Abnormal atrioventricular condu... ORPHA:280365
Congenital Enterovirus Infection
Fetal ascites, Myocarditis, Pericardial effusion, Hepatitis, Cardiomyopathy, Polyhydramnios, Hype... ORPHA:292
Chylomicron Retention Disease
Growth delay, Vomiting, Hypocholesterolemia, Failure to thrive, Abdominal distention, Increased h... ORPHA:71
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Hydronephrosis, Rectal prolapse, Mild postnatal growth retardation, Pericardial... OMIM:235510
Chylous Ascites
Abnormal intestine morphology, Ascites, Pancreatitis, Subcutaneous nodule, Lymphedema ORPHA:1160
Cholera
Abnormality of renal excretion, Hyponatremia, Hypovolemic shock, Decreased urine output, Abdomina... ORPHA:173
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Esophageal varix, Portal fibrosis, Short stature, Splenomegaly, Diarrhea, Hepatic fibrosis, Vomit... ORPHA:264580
Nephrosialidosis
Pericardial effusion, Nephrotic syndrome, Ascites, Bone-marrow foam cells, Nephropathy, Renal ins... OMIM:256150
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Growth delay, Hepatocellular carcinoma, Elevated circulating creatine kinase... ORPHA:88618
Evans Syndrome
Syncope, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Epistaxis, Autoimmune t... ORPHA:1959
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Hyperlipidemia, Short stature, Abdominal distention, Cerebral isch... ORPHA:1830
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Severe short-limb dwarfism ORPHA:436182
Sanjad-Sakati Syndrome
Severe intrauterine growth retardation, Hypoparathyroidism, Congenital hypoparathyroidism, Short ... ORPHA:2323
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Short stature, Telecanthus, Nephropathy, Hypocalcemia, Renal insufficiency, L... ORPHA:1563
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Elevated circulating ... ORPHA:435660
Adiposis Dolorosa
Obesity, Abdominal distention, Painful subcutaneous lipomas, Constipation OMIM:103200
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Feeding difficulties, Abdominal distention, Increased total bilirubin, Cholestasis,... OMIM:618528
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome... OMIM:617303
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Aplasia/Hypoplasia of the lungs, Abnormality of the ureter, Ascites, Polyhydramnios,... ORPHA:1046
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Ascites, Celiac disease, Abnormal ci... ORPHA:186
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia, Polyhydramnios, Hydrops f... ORPHA:3405
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Growth delay, Ascites, Short stature, Hyperbilirubinemia, Splenomegaly, Absence of ... OMIM:259720
Celiac Disease, Susceptibility To, 1
Vomiting, Celiac disease, Failure to thrive, Stomatitis, Abdominal distention, Weight loss, Short... OMIM:212750
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Growth delay, Ascites, Pulmonary arterial hypertension, Tricuspid... ORPHA:2414
Avian Influenza
Pneumonia, Vomiting, Elevated circulating creatine kinase concentration, Pneumothorax, Hepatitis,... ORPHA:454836
Hyperalphalipoproteinemia 1
Increased HDL cholesterol concentration OMIM:143470
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Esophageal varix, Short stature, Slender build, Portal hypertens... OMIM:613658
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Ascites, Failure to thrive, Hyperammonemia, Cirrhosis, Elevated alpha-... OMIM:617049
Mulibrey Nanism
Hepatomegaly, Intrauterine growth retardation, Growth delay, Ascites, Short stature, Microglossia... OMIM:253250
Atresia Of Small Intestine
Intrauterine growth retardation, Vomiting, Short stature, Failure to thrive, Feeding difficulties... ORPHA:1201
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Prolonged QT interval, Atrial fibrillation, Elevated c... OMIM:613327
Cholestasis-Lymphedema Syndrome
Lymphedema, Nausea and vomiting, Hepatomegaly, Hyperlipidemia, Acholic stools, Abnormality of uri... ORPHA:1414
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... ORPHA:411634
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Ovarian neoplasm, Anorexia, Ascites, Abdominal distention, Weight loss, Neop... ORPHA:370348
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Growth delay, Hypokalemia, Failure to thrive, Hypochloremia, Abdominal distention, ... OMIM:214700
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Ankle flexion contracture, Purple urine, Episodic vomiting, Nausea, Abdominal diste... ORPHA:100924
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Short stature, Decreased glomerular filtration rate, Nephrolithias... OMIM:601198
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Growth delay, Hypocalcemia OMIM:619073
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy, Growth delay, Fe... ORPHA:263501
Oculocerebrodental Syndrome
Hypercalcemia, Short stature, Nephrocalcinosis, Epicanthus, Enamel hypoplasia, Hypocalcemia ORPHA:557003
Neuraminidase Deficiency
Hepatomegaly, Ascites, Short stature, Bone-marrow foam cells, Urinary excretion of sialylated oli... OMIM:256550
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Melena, Anisocytosis, Poikilocytosis, Abnormal erythro... ORPHA:98870
Niemann-Pick Disease, Type A
Hepatomegaly, Feeding difficulties in infancy, Xanthomatosis, Ascites, Vomiting, Failure to thriv... OMIM:257200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Autosomal Recessive Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Hypocalcemic tetany, Intrauterine growth retardation, Hypocalcemic... ORPHA:93324
Trehalase Deficiency
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain ORPHA:103909
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Argininosuccinic ... OMIM:603471
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hepatomegaly, Generalized aminoaciduria, Growth delay, Hepatocellular carcinom... ORPHA:2088
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic ste... OMIM:301045
Rhabdoid Tumor
Hypercalcemia, Nausea and vomiting, Hypertension, Hematuria, Weight loss, Neoplasm of the liver, ... ORPHA:69077
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Elevated red cell adenosine deaminase level, Normoc... OMIM:615550
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Hepatomegaly, Neoplasm of the lung, Ovarian neoplasm, Cachexia, Ascites, Abd... ORPHA:83469
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pleuritis, Pleural empyema, Intussusception, Diarrhea, Generalized edema, Abdominal ... ORPHA:544482
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Pericardial effusion, Edema, Epistaxis, Splenomegaly, Decreased li... ORPHA:167
Eosinophilia, Familial
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Autoimmune Hemolytic Anemia
Hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor, Arrhythmia, Abnormal leukocyte ... ORPHA:98375
Squalene Synthase Deficiency
Hypospadias, Failure to thrive in infancy, Intrauterine growth retardation, Constipation, Hypocho... OMIM:618156
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hypospadias, Micropenis, Hepatosplenomegaly, Ascites OMIM:600461
Gaisböck Syndrome
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Peptic ulcer, Nephrocalcinosis... ORPHA:90041
Retinitis Pigmentosa 81
Pallor OMIM:617871
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Cleft palate, Increased fecal calpro... OMIM:619573
Mandibuloacral Dysplasia
High palate, Loss of subcutaneous adipose tissue in limbs, Reduced intrathoracic adipose tissue, ... ORPHA:2457
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Edema, Hypertriglyceridemia, Hepatic failure OMIM:177000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration OMIM:618808
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, Nephropathy, Hypocalcemia, ... ORPHA:2238
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Portal hypertension, Petechiae, Anemia, Splenomegaly, H... ORPHA:824
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Facial telangiectasia, Hepatomegaly, Neoplasm of the lung, Anorexia, A... ORPHA:100085
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Pseudohypoparathyroidism, Hypocalcemia, Ob... OMIM:603233
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Small for gestational age, Increased level of galactitol in urin... ORPHA:79237
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Ptosis, Increased... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Ptosis, Increased... ORPHA:98853
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Abnormal intestine morphology, Tubulointerstitial nephritis, Hepatiti... ORPHA:37042
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neoplasm of the lung, Hepatocellular carcinoma, Abnormal renal physiology, Hyperbilirubinemia, Sp... ORPHA:158057
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Lipodystrophy, Polycy... ORPHA:435651
Retinitis Pigmentosa 60
Pallor OMIM:613983
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Anemia, Facial edema, Atrial septal defec... OMIM:617300
Tyrosinemia, Type I
Splenomegaly, Gastrointestinal hemorrhage, Hypermethioninemia, Hypophosphatemic rickets, Hypertro... OMIM:276700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Severe intrauterine growth retardation, Congenital hypoparathyroidism, Hypocalcemic seizures, Dec... OMIM:241410
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Ade... ORPHA:171
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, Eleva... ORPHA:98855
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Hepatic fibrosis, Vomiting, Nausea, Elevated circulating creatine ki... ORPHA:79240
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dysphagia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentrat... ORPHA:64753
Autoimmune Hepatitis
Spider hemangioma, Inflammation of the large intestine, Ascites, Hepatocellular carcinoma, Sclero... ORPHA:2137
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Feeding difficulties in infancy, Growth delay, Goiter, Neonatal hyperbilirubinemi... ORPHA:90674
Neuroleptic Malignant Syndrome
Hypernatremia, Pulmonary embolism, Hyperphosphatemia, Hyponatremia, Hypertension, Vomiting, Hyper... ORPHA:94093
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormal renal physiology, Splenomegaly, Decreased liver function, Increased circul... ORPHA:540
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Ventricular escape rhythm, Ptosis, Increased LDL cholesterol concent... ORPHA:98863
Gitelman Syndrome
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... ORPHA:358
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cleft palate, Intrauterine growth retar... OMIM:616897
Juvenile Polyposis Of Infancy
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Short stature, Dow... ORPHA:79076
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Increased circulating ferritin c... ORPHA:158061
Gracile Bone Dysplasia
Asplenia, Ascites, Failure to thrive, Short stature, Micropenis, Ankyloglossia, Hypocalcemia, Hyp... OMIM:602361
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Short stature, Failure to thrive, Protuberant a... ORPHA:289157
Malignant Peritoneal Mesothelioma
Ascites, Peritonitis, Abdominal distention, Weight loss, Pedal edema, Ileus, Abdominal pain ORPHA:168811
Achondrogenesis, Type Ib
Umbilical hernia, Neonatal short-limb short stature, Edema, Abdominal distention, Polyhydramnios,... OMIM:600972
Hypercalcemia, Infantile, 1
Vomiting, Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Pulmonic stenosis, I... OMIM:143880
Hypophosphatasia, Infantile
Hypercalcemia, Elevated urine pyrophosphate, Anorexia, Intracranial hemorrhage, Vomiting, Nephroc... OMIM:241500
Dohle Bodies And Leukemia
Anemia, Leukocyte inclusion bodies, Acute myeloid leukemia, Secundum atrial septal defect, Lymphe... OMIM:223350
American Trypanosomiasis
Myocarditis, Edema, Cardiomyopathy, Splenomegaly, Congestive heart failure, Pallor, Periorbital e... ORPHA:3386
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Failure to thrive, Abdominal distention, Weight loss, Malabsorption, A... ORPHA:92050
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Erythema, Telangiectasia macularis eruptiva perstans, Edema OMIM:154800
Hypocalcemic Vitamin D-Resistant Rickets
Short stature, Hypophosphatemia, Nephrolithiasis, Abnormal adipose tissue morphology, Hyperparath... ORPHA:93160
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia, Hepatomegaly, Lipodystrophy, Dermal atrophy, Hepatic steatosis, Hypertriglyceride... OMIM:615381
Abetalipoproteinemia
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibros... ORPHA:14
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Renal tubular dysfunction, Generalized aminoaciduria, Hypokalemi... OMIM:227810
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Hepatomegaly, Pericardial effusion, Ascites, Angioedema, Hematuria, Splenome... ORPHA:36412
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy, Edema, Growth delay, Ascites OMIM:611719
Ovarian Hyperstimulation Syndrome
Abdominal pain, Ascites, Nausea OMIM:608115
Refractory Anemia With Excess Blasts
Leukocytosis, Anemic pallor, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, ... ORPHA:86839
Smith-Magenis Syndrome
Short stature, Velopharyngeal insufficiency, Increased body weight, Hypercholesterolemia, Hypertr... OMIM:182290
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Lipodystrophy, Polycystic ovaries, Hepatic steatosis, Hypertriglyce... ORPHA:79085
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Facial edema, Splenomegaly, Increased circulating ferritin concentration, Hypertrig... OMIM:618398
Hereditary Spherocytosis
Restrictive cardiomyopathy, Anemia, Splenomegaly, Pallor, Extramedullary hematopoiesis, Increased... ORPHA:822
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Pallor OMIM:613839
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Cleft palate, High palate, Minimal ch... OMIM:618348
Lcat Deficiency
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Decreased glo... ORPHA:650
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Abdominal distention, Polyhydramnios, Severe short stature, Umbi... ORPHA:93299
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis ORPHA:1909
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Splenomegaly, Myeloproliferative disorder,... ORPHA:3226
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Morphological abnormality of the gastrointestinal tract, Melena, Muscle hemorrha... ORPHA:464321
Volvulus Of Midgut
Neonatal intestinal obstruction, Abdominal distention, Volvulus, Telecanthus, Long palpebral fiss... OMIM:193250
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Intrauterine growth retardation, Small for gestational age, Feeding difficulties, E... OMIM:616733
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Eruptive xan... OMIM:614025
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Splenomegaly, Congestive heart failure, Pallor, Autoimmune hemolytic anemia ORPHA:90037
Elliptocytosis 1
Pallor, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Timothy Syndrome
Prolonged QT interval, Pneumonia, Bradycardia, Hypocalcemia, Bronchitis OMIM:601005
Sepsis In Premature Infants
Hepatomegaly, Vomiting, Small for gestational age, Functional abnormality of the gastrointestinal... ORPHA:90051
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Ptosis, Hypocholesterolemia, Splenomegaly, Hypersplenism OMIM:610539
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Focal segmental glomerulosclerosis, High palate, Intrauterine growth retardation... OMIM:251300
Optic Atrophy 9
Pallor OMIM:616289
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Failure to thrive, Multiple gastric polyps... OMIM:174900
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Bronchiectasis, Abdominal distenti... OMIM:619445
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal circulating lipid concentration, Weight loss, Lipodystrophy, Hyperlipoproteine... ORPHA:1979
Ethylene Glycol Poisoning
Hyperkalemia, Hypertension, Shock, Renal tubular dysfunction, Decreased urine output, Prolonged Q... ORPHA:31826
Thyroid Hemiagenesis
Growth delay, Macroglossia, Abdominal distention, Umbilical hernia, Constipation, Jaundice ORPHA:95719
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Ascites, Failure to thrive, Edema, Hepatosplenomegaly, Polycy... OMIM:608776
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Premature coronary artery atherosclerosis, Hypertriglyceridemia, Increased HDL cholesterol concen... ORPHA:140905
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Hypoc... ORPHA:2239
Glucose/Galactose Malabsorption
Failure to thrive, Abdominal distention, Malabsorption, Glycosuria, Chronic diarrhea, Hyperactive... OMIM:606824
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... ORPHA:731
Mody
Pancreatic hypoplasia, Intrauterine growth retardation, Obesity, Renal cyst, Hepatocellular adeno... ORPHA:552
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Malnutrition, Abnormal P wave, Reduced ejection fraction, Mitral regu... ORPHA:75565
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Intrahepatic Cholestasis Of Pregnancy
Ascites, Small for gestational age, Hyperbilirubinemia, Abnormality of the pancreas, Increased se... ORPHA:69665
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies OMIM:613759
Ovarian Fibroma
Abnormality of the ovary, Ascites, Peritonitis, Abdominal distention, Mesenteric cyst, Ovarian fi... ORPHA:314473
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Small for gestational age, Capillary le... ORPHA:1041
Mitochondrial Trifunctional Protein Deficiency
Feeding difficulties in infancy, Hypoparathyroidism, Failure to thrive in infancy, Mitral regurgi... ORPHA:746
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Abdominal distention, Dyspepsia, Malabsorption, Chronic diarrhea, Abnormal smal... ORPHA:103907
Primary Effusion Lymphoma
Pericardial effusion, Abdominal distention, Abnormality of the peritoneum, Pleural effusion, Abdo... ORPHA:48686
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia, Hy... ORPHA:846
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hepatic calcification, Hypocalcemic tetany, Pericardial effusion, Nephroc... ORPHA:73224
Congenital Pancreatic Cyst
Anorexia, Vomiting, Abdominal distention, Pancreatitis, Abdominal pain, Jaundice ORPHA:313906
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly OMIM:602079
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Abdominal distention, Weight loss, Abnormal liver sonography, Neoplasm of the l... ORPHA:90003
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal colic ORPHA:35122
Lymphatic Malformation 6
Lymphedema, Nonimmune hydrops fetalis, Ascites, Short stature, Hydrocele testis, Edema, Epicanthu... OMIM:616843
Brooke-Spiegler Syndrome
Skin nodule, Abnormality of the sublingual glands, Nodular changes affecting the eyelids, Skin-co... ORPHA:79493
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Vomiting, Elevated circulating creatine kinase concentration, Atrophic scars, Abd... ORPHA:158684
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphedema, Horseshoe kidney, Pyloric stenosis, Mild postnatal growth... ORPHA:2136
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Short stature, Hypocholesterolemia, Failure to thrive, Decreased LDL cholesterol concentration, B... OMIM:616834
Laron Syndrome
Truncal obesity, Severe short stature, Hypercholesterolemia, Hypoplasia of penis, Delayed puberty ORPHA:633
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Restrictive cardiomyopathy, Hypoplasia of the th... OMIM:619313
Bartter Syndrome, Type 1, Antenatal
Short stature, Hyperprostaglandinuria, Renal potassium wasting, Hyperaldosteronism, Renal salt wa... OMIM:601678
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Telecanthus, Hepatosplenomegaly, Recurrent respiratory infections, Conjunctivitis, Hypertrophic c... ORPHA:505248
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Ascites, Restrictive cardiomyopathy, Tricuspid regurgitati... OMIM:619433
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia OMIM:203330
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Hemorrhagic ovarian cyst, Ascites, Nausea, Abdominal distention, Ovarian cys... ORPHA:64739
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Increased LDL cholesterol concentration, Acute hepatic steatosis, He... ORPHA:209902
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Edema, Anemia, Anemic pallor, Hematochezia ORPHA:329971
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Weight loss, ... ORPHA:131
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Renal sodium wasting, Vomiting, Elevated serum 11-deoxycortisol, Feed... ORPHA:556030
H Syndrome
Facial telangiectasia, Short stature, Bronchiectasis, Lipodystrophy, Hernia, Abnormal eyebrow mor... ORPHA:168569
Diamond-Blackfan Anemia 9
Webbed neck, Anemia OMIM:613308
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Esophageal varix, Short stature, Abdominal distention, Splenomegaly, Increas... OMIM:619534
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Short stature, Ost... ORPHA:79444
Peripheral Cone Dystrophy
Pallor OMIM:609021
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Ascites, Hydrocele testis, Absent eyebrow, Absent eyelashes, Dermal atrop... ORPHA:69735
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Decreased HDL cholesterol concentration, Accelerated atherosclerosis, Increased LDL... OMIM:618620
Infantile Myofibromatosis
Hypercalcemia, Abnormal intestine morphology, Neoplasm of the lung, Chondrocalcinosis, Neoplasm o... ORPHA:2591
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Pallor OMIM:611590
Velocardiofacial Syndrome
Interrupted aortic arch, Narrow palpebral fissure, Cleft palate, Hypoparathyroidism, Umbilical he... OMIM:192430
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... OMIM:607765
Acquired Generalized Lipodystrophy
Hypertension, Hepatomegaly, Abnormal circulating lipid concentration, Panniculitis, Polycystic ov... ORPHA:79086
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Nephrotic syndrome, Ascites, Vomiting, Edema, Nephritis, Hematuria, Abdomin... ORPHA:93552
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Intrauterine growth retardation, Duodenal stenosis, Annular p... ORPHA:2470
Blue Diaper Syndrome
Abnormal abdomen morphology, Hypercalcemia, Abnormal circulating tryptophan concentration, Nephro... OMIM:211000
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Edema, Stage 5 chronic kidney disease, Diffuse mesangial scl... OMIM:609049
Congenital Hypothyroidism
Hypertension, Feeding difficulties in infancy, Goiter, Short stature, Macroglossia, Abdominal dis... ORPHA:442
Castleman Disease
Ureteral obstruction, Nausea and vomiting, Hematuria, Anasarca, Abdominal distention, Restrictive... ORPHA:160
Free Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive in infancy, Ascites, Nephrotic syndrome, Splenomegaly, Recurrent ... ORPHA:834
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Postnatal growth retardation, Nephrocalcinosis, Hypocalcemia OMIM:179800
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Hypertension, Intracranial hemorrhage, Mitral regurgit... ORPHA:363618
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Hepatomegaly, Decreased HDL cholesterol concentration, Tubu... OMIM:203800
Classic Galactosemia
Hepatomegaly, Vomiting, Ascites, Feeding difficulties, Hepatic failure, Premature ovarian insuffi... ORPHA:79239
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Bile duct proliferation, Hypercholesterolemia, ... OMIM:619662
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Leukopenia, Erythroid hypoplasia, Reticulocytopenia OMIM:612528
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Intrauterine growth retardation, Micropenis, Postnatal growth retarda... OMIM:614732
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased res... ORPHA:470
Non-Functioning Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Elevated urinary epinephrine, Nausea, Palpitations, Hematuria... ORPHA:94080
Aggressive Systemic Mastocytosis
Portal hypertension, Anorexia, Abdominal cramps, Ascites, Weight loss, Malabsorption, Decreased l... ORPHA:98850
Hypophosphatasia
Hypercalcemia, Feeding difficulties in infancy, Failure to thrive in infancy, Short stature, Skin... ORPHA:436
Athyreosis
Growth delay, Short stature, Macroglossia, Feeding difficulties, Abdominal distention, Constipation ORPHA:95713
Smith-Magenis Syndrome
Feeding difficulties in infancy, Abnormality of the ureter, Cleft palate, Failure to thrive in in... ORPHA:819
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Malabsorption, Splenomegaly, Cirrhosis, Jaundice, Conjugated hyperb... OMIM:214900
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Glycogen Storage Disease Ixc
Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... OMIM:613027
Donohue Syndrome
Intrauterine growth retardation, Hepatic fibrosis, Long penis, Abdominal distention, Adipose tiss... OMIM:246200
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Lipodystrophy, Panniculitis, Splenomegaly, Hypertriglyceridemia,... OMIM:617591
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Farber Disease
Abnormal conjunctiva morphology, Hepatic fibrosis, Ascites, Short stature, Failure to thrive, Fee... ORPHA:333
22Q11.2 Deletion Syndrome
Hypospadias, Feeding difficulties in infancy, Cleft palate, Short stature, Hypoplasia of the thym... ORPHA:567
Noonan Syndrome 12
Ventricular septal defect, Supravalvular aortic stenosis, Polyhydramnios, Tetralogy of Fallot, Ly... OMIM:618624
Low Phospholipid-Associated Cholelithiasis
Hypertension, Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, N... ORPHA:69663
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Pallor, He... ORPHA:99931
Familial Mediterranean Fever
Pleuritis, Splenomegaly, Vasculitis, Nephropathy, Diarrhea, Abdominal pain, Nausea and vomiting, ... ORPHA:342
Marburg Hemorrhagic Fever
Conjunctival hyperemia, Odynophagia, Hyperammonemia, Diarrhea, Abdominal pain, Capillary leak, Ja... ORPHA:99826
Lymphangiectasia, Pulmonary, Congenital
Pulmonary lymphangiectasia, Mild postnatal growth retardation, Nonimmune hydrops fetalis, Ascites... OMIM:265300
Dextrocardia
Abnormality of the spleen, Abnormal pulmonary situs morphology, Abnormality of the ureter, Meckel... ORPHA:1666
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Goiter, Macroglossia, Protuberant abdomen, Abdominal distention,... ORPHA:226313
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... ORPHA:98826
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... OMIM:615779
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ectopia of the spleen, Ventricular septal defect, Atrioventricular canal defect OMIM:613751
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis OMIM:616959
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Feeding difficulties, Co... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Feeding difficulties, Co... ORPHA:529799
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... OMIM:616963
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Cleft palate, High palate, Hepatic fibrosis, Ascites, Short statur... OMIM:614091
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Waldenström Macroglobulinemia
Normocytic anemia, Leukemia, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, Vasculitis, Pu... ORPHA:33226
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia OMIM:146200
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Highly arched eyebrow, Short stature, Renovascular hypertension, Aortic r... ORPHA:401923
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Functional abnormality of the gastrointestin... ORPHA:29073
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Short stature, Failure to thrive, Abdominal distention, Elevated circulating C-reac... OMIM:619423
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Chondrocalcinosis, Nephrocalcinosis, Hypophosphatemia, Abdomina... ORPHA:99879
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Thiamine-responsive megaloblastic anemia, Card... OMIM:249270
Hereditary Fructose Intolerance
Hepatomegaly, Growth delay, Vomiting, Nausea, Chronic kidney disease, Abdominal distention, Hypop... ORPHA:469
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Failure to thrive, Feeding difficulties, Bile duct proliferation, Hy... OMIM:618329
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Maternal Uniparental Disomy Of Chromosome 4