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Gene: Hlx MGI:96109

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
H2.0-like homeobox
Synonyms:
Hlx1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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 Hlx 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.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasis, Hepatocellu... OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Pentalogy Of Cantrell
Omphalocele, Absent gallbladder, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypopla... ORPHA:1335
Microphthalmia, Syndromic 12
Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Pulmonary ... OMIM:615524
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... ORPHA:210122
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia OMIM:300752
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Meckel Syndrome, Type 6
Absent gallbladder, Bilobed right lung, Cleft palate, Cystic liver disease, Bile duct proliferati... OMIM:612284
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia, Edema OMIM:600995
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... OMIM:613752
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... ORPHA:309108
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Death in infancy, Hydrops fetalis, Ascites, Portal vein hypoplasia OMIM:619433
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Congenital Lethal Erythroderma
Death in infancy, Dry skin, Hypoalbuminemia ORPHA:1954
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Cirrhos... ORPHA:101028
Mitochondrial Complex I Deficiency, Nuclear Type 35
Hyperalaninemia, Redundant neck skin, Nonimmune hydrops fetalis, Hyperprolinemia, Neonatal death,... OMIM:619003
Erythroderma, Lethal Congenital
Death in infancy, Hypoalbuminemia OMIM:227090
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Analbuminemia
Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, H... OMIM:616000
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... ORPHA:2470
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia OMIM:620357
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Abnormality of the diaphrag... OMIM:601163
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Developmental And Epileptic Encephalopathy 96
Death in infancy, Hydrops fetalis OMIM:619340
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hype... OMIM:266200
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Atretic gallbladder, Splenomegaly, ... ORPHA:30391
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Splenomegaly, Abnormality of the amnio... OMIM:608540
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrop... OMIM:617049
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Pul... OMIM:600001
Nephrotic Syndrome, Type 9
Hypoalbuminemia, Edema OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia, Edema OMIM:614131
Focal Segmental Glomerulosclerosis 1
Edema, Hyperlipidemia, Hypoalbuminemia, Pleural effusion, Ascites OMIM:603278
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Decreased fetal movement, Death in infancy, Edema, Elevated circulating creatinine ... OMIM:608104
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Intestinal malrotation, Congenital dia... ORPHA:2140
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Poly... ORPHA:367
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Peripheral Cone Dystrophy
Optic disc pallor, Optic atrophy, Pallor OMIM:609021
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Edema OMIM:614652
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Hepatosplenomegaly OMIM:312500
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia ORPHA:79278
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Hypercalcemia, Polyhydramnios, Hydrops fetalis, Ascites ORPHA:2123
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios ORPHA:2204
Congenital Analbuminemia
Premature birth, Miscarriage, Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-g... ORPHA:86816
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... ORPHA:232
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Anorectal anomaly, Trach... ORPHA:1834
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
8p23.1 deletion syndrome
Cryptorchidism, Congenital diaphragmatic hernia DECIPHER:39
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... OMIM:232800
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Fetal Gaucher Disease
Hepatomegaly, Decreased fetal movement, Death in infancy, Fetal akinesia sequence, Splenomegaly, ... ORPHA:85212
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Conjugated hyperbilirubinemia, Splenomegaly, Hydrops fetalis, Deat... OMIM:269920
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth OMIM:600972
Glycogen Storage Disease Iv
Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosple... OMIM:232500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Congenital Heart Block
Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae... ORPHA:60041
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:215045
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Elevated circulating creatine kinas... OMIM:618835
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hemolytic anemia OMIM:177000
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Elevated circulating creatine kinas... OMIM:618839
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Hydr... ORPHA:766
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Malabsorption ORPHA:99811
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Indomethacin Embryofetopathy
Premature birth, Hydrops fetalis, Oligohydramnios ORPHA:1909
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon... ORPHA:3032
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia OMIM:613630
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, H... ORPHA:292
Mpi-Cdg
Hepatomegaly, Portal hypertension, Edema, Hepatic fibrosis, Decreased liver function, Hypoalbumin... ORPHA:79319
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Exocrine pancreatic insufficiency, Pulmo... ORPHA:2255
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Death in infancy, Hypertyrosinemia, Polyhydramnios, Conjugated hyp... OMIM:617156
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Peripo... OMIM:263210
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Ascites... ORPHA:1041
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Edema, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Death in childhood, Hepatic fa... OMIM:602579
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Hypoalbuminemia, Pallor ORPHA:507
Nephrotic Syndrome, Type 3
Hypoalbuminemia, Edema OMIM:610725
Fibronectin Glomerulopathy
Hypoalbuminemia, Pedal edema ORPHA:84090
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Abnormality of iron homeostasis ORPHA:75563
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Pulmonary hypopla... OMIM:617925
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, High palate, Pancreatic aplasia ORPHA:556955
Alg8-Cdg
Elevated hepatic transaminase, Hyponatremia, Premature birth, Edema, Optic atrophy, Hydrops fetal... ORPHA:79325
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the pulmonary artery, Cleft palate ORPHA:1166
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer... OMIM:618500
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormal lung lobation, A... ORPHA:1666
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... OMIM:619013
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Nonimmune hydrops fetalis, Fetal pericardial effusion, Hypoalbuminemia, Decreased liver function,... OMIM:617021
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Anemia ORPHA:100025
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Congenital diaphragmatic hernia ORPHA:261102
Nephrotic Syndrome, Type 6
Hypoalbuminemia, Edema OMIM:614196
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... OMIM:618805
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Microvesicu... OMIM:613070
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Cleft palate, Anemia, Thrombocytopenia ORPHA:163979
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... ORPHA:822
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:617093
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulmo... ORPHA:2847
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Splenomegaly, Ja... OMIM:615512
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Skin ulcer, Ascites ORPHA:834
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... OMIM:251880
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia OMIM:615935
Optic Atrophy 1
Optic atrophy, Pallor OMIM:165500
Trisomy 10P
Absent gallbladder, Decreased muscle mass, High palate, Rectovaginal fistula, Gastroesophageal re... ORPHA:171929
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous... ORPHA:250999
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... ORPHA:88618
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Hernia ORPHA:96097
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Velopharyngeal insufficiency, Pulmonary hypoplas... OMIM:300978
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Splenomegaly, Thrombocyto... OMIM:607616
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Alg6-Cdg
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice ORPHA:79320
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... OMIM:610199
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... OMIM:603903
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Zollinger-Ellison syndrome, Abnormal biliary tract morp... ORPHA:438274
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the pancreas, Cryptorchidism, Anorec... ORPHA:887
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Congenital diaphragmatic hernia, Cleft palate, Granulocytopenia, Bifid uvula OMIM:606164
Trisomy 8P
Multiple joint contractures, Cryptorchidism, Malrotation of small bowel, Abnormal lung lobation, ... ORPHA:264450
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia ORPHA:563609
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, High, narrow palate, Cryptorchidism, Contractures of the large joints,... ORPHA:96092
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung lobation, Narrow ... ORPHA:2063
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Acrocallosal Syndrome
Cryptorchidism, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Elevated circulating... OMIM:618838
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Nephrotic Syndrome, Type 8
Hypoalbuminemia, Edema, Generalized edema OMIM:615244
Schisis Association
Omphalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate, Anal atresia ORPHA:63862
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia ORPHA:2143
Primary Biliary Cholangitis
Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Conjugate... ORPHA:186
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy, Pallor OMIM:612989
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Pallor OMIM:606353
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries... ORPHA:284180
Serkal Syndrome
Malrotation of small bowel, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:139466
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal mesentery morphology, Abnormality of th... ORPHA:2075
Leber Congenital Amaurosis 14
Optic disc pallor, Pallor OMIM:613341
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cryptorchidism, Cleft palate, A... ORPHA:95706
Diamond-Blackfan Anemia 10
Macrocytic anemia, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Reticulocytope... OMIM:613309
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... ORPHA:567983
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:615234
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Edema, Peri... OMIM:619487
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Myopathy ORPHA:33574
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Dehyd... ORPHA:1667
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia OMIM:619398
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... OMIM:602347
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Foot joint contracture, Facial palsy, Achilles tendon contracture, Aplasia/Hypoplas... ORPHA:456312
Zttk Syndrome
Absent gallbladder, Unilateral lung agenesis, Submucous cleft hard palate, Flexion contracture, H... OMIM:617140
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Edema, Periorbital edema, Peritonitis, Hypoalbuminemia, Hypercholesterolemi... ORPHA:567548
Steinfeld Syndrome
Absent gallbladder, Bifid uvula, Median cleft lip and palate OMIM:184705
Genetic Steroid-Resistant Nephrotic Syndrome
Periorbital edema, Peritonitis, Hypoalbuminemia, Edema ORPHA:656
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... ORPHA:540
Craniofacioskeletal Syndrome
Absent gallbladder, Cleft palate, Cryptorchidism OMIM:300712
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ... OMIM:613101
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor ORPHA:209981
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Decreased circulating free fatty acid level, Pallor, Diffuse pancreatic islet hyper... ORPHA:276575
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Edema, Splenomeg... OMIM:603553
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Decreased circulating free fatty acid level, Pallor, Diffuse pancreatic islet hyper... ORPHA:276556
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, ... ORPHA:90362
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Facial palsy, Polyhydramnios OMIM:255320
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Galloway-Mowat Syndrome 6
Intrauterine growth retardation, Hypoalbuminemia OMIM:618347
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Tetrasomy 9P
Absent gallbladder, Myositis, Abnormal dental enamel morphology, Cryptorchidism, Jaundice, Biliar... ORPHA:3310
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:616050
Lowry-Maclean Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Midgut malrotation, A... ORPHA:2409
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Edema, Hypoalbuminemia, Ascites, Hypoproteinemia, Generalized edema OMIM:226300
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Mulibrey Nanism
Hepatomegaly, Ascites, Hydrops fetalis, Intrauterine growth retardation OMIM:253250
Breath-Holding Spells
Pallor OMIM:607578
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Flexion contracture, Pancreatic hypoplasia, Anemia, Pancreat... OMIM:609069
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Edema OMIM:256300
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:609015
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Hemophagocytosis, Neutropenia, Anemia OMIM:603552
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... OMIM:308240
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Emanuel Syndrome
Recurrent respiratory infections, Inguinal hernia, Torticollis, Intestinal malrotation, Congenita... OMIM:609029
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Cryptorch... ORPHA:94065
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, ... ORPHA:171
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Rhabdomyolysis, Hematochezia, Cholestatic li... ORPHA:79095
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Agenesis of pulmonary vessels, ... OMIM:601186
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Thrombocytopenia OMIM:615085
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Death in infancy, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Anasa... OMIM:618183
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Ascites, Hypoalbuminemia, Edema ORPHA:2070
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia OMIM:300887
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Splenomegaly, Pallor ORPHA:3386
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites OMIM:256550
Alg1-Cdg
Hypoalbuminemia, Decreased liver function ORPHA:79327
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Hydrops fetalis, Polyhydramnios ORPHA:3405
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Mody
Elevated hemoglobin A1c, Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insuf... ORPHA:552
Campomelia, Cumming Type
Hepatomegaly, Death in infancy, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrop... ORPHA:1318
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Pallor OMIM:613561
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Macroglossia, High palate, Umbilical... OMIM:614608
Craniofrontonasal Dysplasia
High palate, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Usual interstitial pneumonia, Gastroesophageal reflux, Pulmonary f... OMIM:614742
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of finger, Decreased response to growth hormone stimulation tes... OMIM:602782
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Cebalid Syndrome
High palate, Congenital diaphragmatic hernia OMIM:618774
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder ORPHA:3186
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis... OMIM:611812
Avian Influenza
Elevated hepatic transaminase, Miscarriage, Elevated circulating creatine kinase concentration, E... ORPHA:454836
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia ORPHA:100024
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Edema, ... OMIM:212065
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Increased C-peptide level, Hepatomegaly ORPHA:276580
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Hyp... OMIM:277900
Immunodeficiency 27A
Splenomegaly, Hypoalbuminemia, Hepatosplenomegaly OMIM:209950
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Optic atrophy, Dry skin, Death in adolescence, Hypoalbuminemia, As... OMIM:610965
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Hyperinsulinism Due To Hnf1A Deficiency
Decreased circulating free fatty acid level, Hepatomegaly, Pallor, Increased C-peptide level ORPHA:324575
Cooper-Jabs Syndrome
Anteriorly placed anus, Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Fryns Syndrome
Omphalocele, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cryp... ORPHA:2059
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Xerostomia, Abnormality of the liver... ORPHA:85443
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Biliary hyperplasia, Pyloric stenosis, C... ORPHA:83617
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... OMIM:608013
Sialuria
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Cholelithiasis ORPHA:3166
Emanuel Syndrome
Recurrent respiratory infections, Inguinal hernia, Multiple joint contractures, Congenital diaphr... ORPHA:96170
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Anemic pa... ORPHA:86839
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagni diaphragmatic he... OMIM:613177
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Recurrent respiratory infections, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st... OMIM:615438
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Hepatic failur... ORPHA:75233
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Myotonic Dystrophy 1
Cholelithiasis, Facial diplegia, Testicular atrophy, Dysphagia OMIM:160900
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Perlman Syndrome
Distal ileal atresia, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplasia of the abdomina... OMIM:267000
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... OMIM:278000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Facial edema, Hyperlipidemia, Pedal edema, Anasarca, Hypoalbuminemia, Ple... ORPHA:567546
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Elevated circulating creatine kinase concentration, Death in adolescence, Hypoa... OMIM:619055
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate... OMIM:614294
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia ORPHA:28
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Recurrent u... OMIM:301082
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Mosaic Trisomy 1
Omphalocele, Hepatic agenesis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow fl... ORPHA:1692
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Macr... OMIM:557000
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Hydrops fetalis, Edema ORPHA:90308
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Tracheoesophageal fistula, Aplasia of the left hemidiaphragm... ORPHA:2437
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Single umbilical artery, Intrauterine growth retardation, Pleura... OMIM:616897
Achondrogenesis, Type Ii
Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:200610
Ménétrier Disease
Hypoproteinemia, Peripheral edema, Hypoalbuminemia ORPHA:2494
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomega... OMIM:226990
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Refractory Celiac Disease
Elevated hepatic transaminase, Hypophosphatemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, H... ORPHA:398063
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hyperammonemia, Pallor, Hyperuricemia, Death in childhood OMIM:246450
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Subc... ORPHA:97278
Porphyria, Congenital Erythropoietic
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Corneal... OMIM:263700
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Trichohepatoenteric Syndrome 1
Hepatomegaly, Polyhydramnios, Splenomegaly, Abnormality of the pancreas, Jaundice, Abnormalities ... OMIM:222470
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, High palate,... OMIM:612530
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... OMIM:619991
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Decreased muscle mass, ... ORPHA:298
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Cryptorch... ORPHA:363528
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Anomal... ORPHA:2311
Hemochromatosis, Type 4
Anemia, Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:606069
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... OMIM:612714
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... ORPHA:2930
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Subc... ORPHA:97261
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Facial palsy, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism,... OMIM:617602
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia,... ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia,... ORPHA:529808
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Gastroesophageal reflux OMIM:617450
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Congenital diaphragmatic hernia, Abnormal lung lobation, Anomalo... ORPHA:1120
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Gastrointestinal dysmotility, Cleft palate, Gastroe... ORPHA:500150
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen... ORPHA:158057
Trisomy 1Q
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Cleft pala... ORPHA:261344
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, High, narrow palate, Cryptorchidism, Abnormal panc... ORPHA:2849
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, Edema, Lymphedema, Reduced circulating transferrin concentration, Chylous ... ORPHA:90363
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Recurrent respiratory infections, Facial hypotonia, Cryptorchidism,... OMIM:300534
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Edema OMIM:617575
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Celiac disease, Desquamative interstiti... OMIM:615952
Focal Dermal Hypoplasia
Acute hepatic failure, Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenita... ORPHA:2092
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Esopha... ORPHA:774
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, Muscular dystro... OMIM:226670
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Splenomegaly, Lymp... OMIM:616843
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Cholestasi... ORPHA:440713
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Optic atrophy, Bile duct proliferation, Macrovesicular hepatic ste... OMIM:618329
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Pallor, Increased total bilirubin ORPHA:90037
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Ileu... ORPHA:83469
Donnai-Barrow Syndrome
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Umbilical hernia, Diaphragm... OMIM:222448
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti... OMIM:620296
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Thrombocytopenia OMIM:618775
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Nonimmune hydrops fetalis, Fetal pleural effusion OMIM:620167
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Edema, Peritonitis, Elevated circulating crea... ORPHA:36234
Gm1-Gangliosidosis, Type I
Hepatomegaly, Death in infancy, Splenomegaly, Hydrops fetalis, Intrauterine growth retardation OMIM:230500
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Abnormal lung lobation, Trache... ORPHA:958
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Volvulus,... OMIM:112200
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... ORPHA:905
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Nonimmune hydrops fetalis, Pericardial effusion, Increased circulating ferr... OMIM:619313
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal... ORPHA:54251
Mirizzi Syndrome
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... ORPHA:521219
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Pleural empyema, Hypoalbuminemia, Pleural effusion ORPHA:67
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Hemochromatosis, Type 3
Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Evans Syndrome
Jaundice, Pallor, Petechiae ORPHA:1959
Meacham Syndrome
Congenital diaphragmatic hernia, Abnormality of the spleen, Cryptorchidism, Abnormal lung lobatio... ORPHA:3097
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Pallor ORPHA:49827
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Trisomy 13
Intrauterine growth retardation, Optic atrophy, Hydrops fetalis ORPHA:3378
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Optic atrophy, Hypoalbuminemia, Macrovesicular hepatic steatosis, Dea... OMIM:617303
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pul... OMIM:273395
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholel... OMIM:240300
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Pallor, Lymphedema ORPHA:3226
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial... OMIM:265000
2Q37 Microdeletion Syndrome
Pyloric stenosis, Congenital diaphragmatic hernia, Umbilical hernia, Supernumerary nipple ORPHA:1001
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Hepatoblastoma, Polycythemia, Hepa... ORPHA:116
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... ORPHA:300298
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Leukopenia, Pancreatitis, Anemia ORPHA:27
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Congenital diaphragmatic hernia, Cleft palate, Hydrocele testis, Gastroesophageal ... OMIM:614080
Myelofibrosis
Splenomegaly, Pallor, Purpura OMIM:254450
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Pallor, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Dec... OMIM:300908
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... ORPHA:824
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... ORPHA:100026
Coach Syndrome 3
Portal fibrosis, Anemia OMIM:619113
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Congenital diaphragmatic hernia OMIM:619699
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Pallor, Hepatosplenomegaly OMIM:611590
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical her... OMIM:219100
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor ORPHA:56425
Alg12-Cdg
Elevated hepatic transaminase, Hyponatremia, Premature birth, Redundant skin, Polyhydramnios, Ede... ORPHA:79324
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:612840
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... ORPHA:512
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Elliptocytosis 1
Splenomegaly, Jaundice, Pallor OMIM:611804
Cornelia De Lange Syndrome 1
Inguinal hernia, Pneumonia, Congenital diaphragmatic hernia, Hiatus hernia, Malrotation of colon,... OMIM:122470
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Pancr... ORPHA:263455
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly OMIM:619273
Pagod Syndrome
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Pulmonary artery hypopla... ORPHA:991
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites ORPHA:584
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Partial anomalous pulmonary venous return, ... OMIM:608978
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Anemia ORPHA:371
Sepsis In Premature Infants
Hepatomegaly, Premature birth, Edema, Elevated circulating C-reactive protein concentration, Sple... ORPHA:90051
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Increased serum iron, Pallor, Increased total iron binding capacit... ORPHA:98870
Zaki Syndrome
High palate, Congenital diaphragmatic hernia OMIM:619648
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Non-Functioning Paraganglioma
Cranial nerve compression, Hypercalcemia, Pallor ORPHA:94080
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Congenital diaphragmatic hernia, Gastroesophageal reflux, Cleft palate ORPHA:261197
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... ORPHA:398124
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia OMIM:313850
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Pseudobulbar paralysis, Hi... OMIM:618651
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Hypoalbuminemia, ... OMIM:235510
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Omphalocele, Pancreatic fibrosis, Hypoplasia of the small intest... OMIM:200995
Arterial Tortuosity Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Pulmonary artery stenosis, Flexi... OMIM:208050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Oculocerebrocutaneous Syndrome
Cryptorchidism, Congenital diaphragmatic hernia ORPHA:1647
Cardiac-Urogenital Syndrome
Accessory spleen, Unilateral cryptorchidism, Intestinal malrotation, Congenital diaphragmatic her... OMIM:618280
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Cleft palate ORPHA:1915
8P23.1 Microdeletion Syndrome
Cryptorchidism, Pulmonary artery stenosis, High palate, Congenital diaphragmatic hernia ORPHA:251071
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hydrops fetalis, ... ORPHA:333
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Ab... ORPHA:93111
Simpson-Golabi-Behmel Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Congen... ORPHA:373
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Anasarca, Bile duct proliferatio... OMIM:613658
Opitz Gbbb Syndrome
Omphalocele, Enlarged ovaries, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, ... ORPHA:2745
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Myopathic Ehlers-Danlos Syndrome
Pallor, Mildly elevated creatine kinase ORPHA:536516
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia, Cleft palate, Gastroesophageal reflux, High pa... OMIM:616364
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glyc... ORPHA:264580
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Pleural effusion, Anasarca, Hypoalbuminemia, Edema OMIM:254900
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Fryns Syndrome
Omphalocele, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal... OMIM:229850
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Inguinal hernia, Aganglionic megacolon, Malabsorption, Abnormal... ORPHA:935
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Steatorrhea, Macroglossia, Distal arthrogryposis, Recurrent pancreati... OMIM:618268
Retinitis Pigmentosa 51
Pallor OMIM:613464
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Miscarriage, Hydrops fetalis, Increased placental thickness ORPHA:1865
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Decreased L... ORPHA:14
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Hypoalbuminemia, Edema, Oligohydramnios OMIM:617729
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... OMIM:200600
Mosaic Trisomy 9
Polyhydramnios, Asplenia, Hydrops fetalis, Single umbilical artery, Abnormal liver lobulation, In... ORPHA:99776
Greenberg Dysplasia
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... OMIM:215140
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Rectovaginal fistula, Tracheoesophageal fistula, Anal atresia ORPHA:1780
Alveolar Echinococcosis
Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, ... ORPHA:284
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Gm1 Gangliosidosis
Premature birth, Splenomegaly, Optic atrophy, Hydrops fetalis, Hepatosplenomegaly ORPHA:354
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... OMIM:175200
Seckel Syndrome 9
Recurrent respiratory infections, Pulmonary artery hypoplasia, Congenital diaphragmatic hernia OMIM:616777
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Pallor, Hyperalaninemia, Hepatic stea... ORPHA:348
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Hyperammonemia, Dehydration, Hyperuricemia, Pallor ORPHA:134
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single umbilical artery, Fetal... OMIM:620244
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis OMIM:614091
White-Sutton Syndrome
Abnormality of the gastrointestinal tract, Ventral hernia, Inguinal hernia, Facial hypotonia, Con... ORPHA:468678
Holoprosencephaly
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the spleen, Aplasia/... ORPHA:2162
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent upper and lower respiratory tract infections ORPHA:171876
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Abno... ORPHA:79124
Trisomy 18
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Esophageal atresia, Crypto... ORPHA:3380
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... ORPHA:98850
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Felty Syndrome
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Thrombocytopenia, Recurrent pharyng... ORPHA:47612
Schneckenbecken Dysplasia
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia, Neonatal death, Ovarian gon... OMIM:194080
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure OMIM:614886
Meckel Syndrome, Type 3
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... OMIM:607361
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Intrauterine growth retardation, Hydrops fetalis, Fetal akinesia sequence OMIM:617022
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Increased total bilirubin ORPHA:90036
Dominant Beta-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, Hepatosplenomegaly, Hepatic... ORPHA:231226
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia, Dysphagia OMIM:615919
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Anal atresia ORPHA:63260
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Cryptorchidism, Pulmonary fibrosis, Emphysema, Lymphopenia... OMIM:620365
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Lipid accumulat... ORPHA:20
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... OMIM:617667
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, High palate, Anal atresia ORPHA:96176
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Lower-limb joint contracture, Pancreatic hypoplasia, Reduced ... ORPHA:99885
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Pylori... ORPHA:818
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hydrops fetalis, ... ORPHA:699
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Ileus, Hepatitis, Anemia, Coombs-posi... OMIM:304790
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Jaundice, Optic atrophy, Hydrops fetalis, Dehydration,... ORPHA:79282
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Limb-girdle m... ORPHA:79240
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Fumarase Deficiency
Bilateral fetal pyelectasis, Polyhydramnios, Intrahepatic cholestasis, Optic atrophy, Ascites, Pa... OMIM:606812
Galloway-Mowat Syndrome 1
Intrauterine growth retardation, Optic atrophy, Hypoalbuminemia, Oligohydramnios OMIM:251300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Esophageal varix, Abnorm... ORPHA:2072
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of... ORPHA:280
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, Cleft ... OMIM:245600
Galactosialidosis
Nonimmune hydrops fetalis, Hepatosplenomegaly OMIM:256540
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Pallor OMIM:600462
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Myocardial nec... OMIM:260400
Cerebrotendinous Xanthomatosis
Cholelithiasis, Pseudobulbar paralysis, Lower limb muscle weakness, Tendon xanthomatosis OMIM:213700
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops f... OMIM:602522
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ... OMIM:617941
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Supernumerary nipple, Cryptorchidi... OMIM:618454
Fibrochondrogenesis 1
Stillbirth, Hydrops fetalis OMIM:228520
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Death in infancy, Bilateral fetal pyelectasis, Polyhydramnios, Microvesicular hepat... OMIM:300868
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Polyhydramnios, Splenomegaly, Biliary c... OMIM:613610
Meckel Syndrome, Type 7
Inguinal hernia, Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatospl... OMIM:267010
Plummer-Vinson Syndrome
Decreased circulating ferritin concentration, Pallor ORPHA:54028
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2260
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Splenomegaly, Hepatitis, Abnormal blood ion concentration, Hypoalb... ORPHA:37042
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:99931
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Pancreatic hypoplasia, Biliary tract abnormality, Exocrine pancrea... OMIM:137920
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Protruding tongue, Malabsorption, M... ORPHA:2268
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... OMIM:607330
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Lipodystrophy, Splenomegaly, Thrombocytope... OMIM:617591
Beta-Thalassemia Major
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, Hepatic fibr... ORPHA:231214
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Umbilical hernia, Unilateral breas... OMIM:304110
Limb Body Wall Complex
Ventral hernia, Diastasis recti, Congenital diaphragmatic hernia, Cleft palate, Abnormality of th... ORPHA:2369
Dravet Syndrome
Pallor ORPHA:33069
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Jaundice, Pallor ORPHA:90033
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Stomach cancer, Goiter, Pituit... ORPHA:733
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Intrauterine growth retardation, Hydrops fetalis, Hepatosplenomegaly ORPHA:79255
Waldenström Macroglobulinemia
Hepatomegaly, Periorbital edema, Splenomegaly, Pedal edema, Pallor, Pleural effusion, Purpura ORPHA:33226
Acrorenal-Mandibular Syndrome
Absent nipple, Congenital diaphragmatic hernia, Elbow flexion contracture, Narrow palate, High pa... OMIM:200980
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongue, Choleli... ORPHA:464738
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Hepatoblastoma, Hepatomegaly, Exaggerate... OMIM:312870
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary inters... ORPHA:77293
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cleft palate, Hepatosplenomegaly, Umbilical hernia, Cholecystitis, Cholelithiasis OMIM:301066
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo... OMIM:230800
Aceruloplasminemia
Refractory anemia, Torticollis, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepa... ORPHA:48818
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Leukocytosis,... OMIM:615895
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Intestinal malrotation, Gastrointestinal atresia, Hepat... ORPHA:436252
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Optic nerve hypoplasia OMIM:609053
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Bohring-Opitz Syndrome
Recurrent respiratory infections, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contrac... ORPHA:97297
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cleft palate, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Hamartoma of tongue OMIM:616546
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Letterer-Siwe Disease
Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Neonatal... OMIM:619534
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Decreased fetal movement, Death in infancy, Aganglionic megacolon, Premature birth,... OMIM:270400
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Pulmonary fibrosis, Testicular atrophy, Oral leukopl... OMIM:618165
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Abnormal pulmonary int... ORPHA:77259
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... OMIM:167800
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis OMIM:618052
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Poland Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the pectoralis major muscle, Absence ... ORPHA:2911
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, Hepatomegaly, Perianal abscess, C... OMIM:612541
Mucopolysaccharidosis, Type Vii
Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:253220
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Diets-Jongmans Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Umbilical hernia, Duodenal atresia OMIM:618846
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech present... OMIM:620369
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Cleft palate, Anteriorly placed anus, Colonic atresia, Anal atresia OMIM:309801
Aymé-Gripp Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Camptodactyly, Br... ORPHA:1272
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Alg9-Cdg
Thickened nuchal skin fold, Hepatomegaly, Decreased fetal movement, Pericardial effusion, Hydrops... ORPHA:79328
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Cryptorchidism, Aortopulmonary window, Pulmonary artery hypoplasia, Aplasia of the ... OMIM:620025
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus, High palate, Gastroesophag... OMIM:188400
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... OMIM:127550
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... ORPHA:157794
Retinitis Pigmentosa 75
Pallor OMIM:617023
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
7Q11.23 Microduplication Syndrome
Cryptorchidism, Inguinal hernia, High palate, Congenital diaphragmatic hernia ORPHA:96121
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperamylasemi... ORPHA:99826
Meckel Syndrome, Type 2
Omphalocele, Bile duct proliferation, Intestinal malrotation, Cleft palate OMIM:603194
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Congenital diaphragmatic hernia ORPHA:268249
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Pallor, Decreased serum iron OMIM:616959
Hennekam Syndrome
Lymphedema, Pericardial effusion, Splenomegaly, Hydrops fetalis, Chylothorax, Hypocalcemia, Ascites ORPHA:2136
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... OMIM:617052
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Hypoalbuminemia, Hepatosplenomegaly ORPHA:505248
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Biliary cirrhosis, Hypotriglyceridemia, Hypoalbumi... ORPHA:2298
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cranial nerve compression, Hypercalcemia, Pallor ORPHA:276621
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Anal atresia, Hypoparathyroidism, Inguinal hernia, Aganglionic megac... ORPHA:567
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:331206
Myopathy, Mitochondrial, And Ataxia
Pallor, Elevated circulating creatine kinase concentration OMIM:617675
Iniencephaly
Omphalocele, Congenital diaphragmatic hernia, Arthrogryposis multiplex congenita, Anal atresia, D... ORPHA:63259
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Anemia ORPHA:71272
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Cryptorchidism, Pancreatic aplasia ORPHA:261265
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia, Emphysema, High palate, Pulmonary artery aneury... OMIM:614437
Distal Deletion 15Q
Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Pulmonary hypoplasia, Bifid tongue ORPHA:1596
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Hypoalbuminemia ORPHA:79396
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Monosomy 9P
Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, High palate, Hernia ORPHA:261112
Adenohypophysitis
Hyponatremia, Orthostatic hypotension, Pallor ORPHA:95512
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Recurrent resp... ORPHA:537
Gaucher Disease
Hepatomegaly, Death in infancy, Elevated circulating C-reactive protein concentration, Splenomega... ORPHA:355
Tay-Sachs Disease
Pallor OMIM:272800
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Skeletal muscle atrophy, Intestinal pseudo-obstruction, Decreased ... ORPHA:273
Lymphedema-Distichiasis Syndrome
Chylothorax, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema OMIM:153400
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Inguinal hernia, Asplenia, Cryptorchidism, High palate ORPHA:221120
Panhypophysitis
Hyponatremia, Orthostatic hypotension, Pallor ORPHA:95513
Feingold Syndrome
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia ORPHA:1305
Gaucher Disease Type 3
Splenomegaly, Hepatomegaly, Pericardial effusion, Hydrops fetalis ORPHA:77261
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
Kabuki Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, High palate, Cleft palate ORPHA:2322
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Inguinal hernia, Duodenal ulcer, Intestinal malrotation, Congen... OMIM:135900
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Intestinal malrotation, Supernumerary nipple, Hiatus hernia, Congen... OMIM:305600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis, Hydrops fetalis OMIM:263520
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Infl... OMIM:232220
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia,... OMIM:130650
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Aganglionic megacolon, Cleft palate OMIM:154400
Mgat2-Cdg
Hydrops fetalis ORPHA:79329
Anemia, Congenital Dyserythropoietic, Type Iiia
Jaundice, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia OMIM:105600
Cerebrotendinous Xanthomatosis
Abnormal lung morphology, Tendon xanthomatosis, Distal amyotrophy, Prolonged neonatal jaundice, C... ORPHA:909
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Partial anomalous pulmonary venous return, Cleft palate, Gastroe... OMIM:301044
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Splenomegaly, Jaundice, Hydrops fetalis, Hepatosplenomegaly, Ascites... ORPHA:646
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Cleft palate, Submucous cleft of soft and hard pal... OMIM:301022
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Dry skin, Pallor ORPHA:91355
Hereditary Pheochromocytoma-Paraganglioma
Cranial nerve compression, Hypercalcemia, Pallor ORPHA:29072
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Hypersplenism, Splenomegaly, Hepatitis, Hydrops fetalis, Hepatocellular carcinoma ORPHA:3261
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:50945
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Cholangitis, Splenomegaly, Angioedema, Chronic hepatitis, Hepatosp... ORPHA:3260
C Syndrome
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the abdominal... ORPHA:1308
Childhood Absence Epilepsy
Pallor ORPHA:64280
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Abnormal rectum morphology, A... ORPHA:2556
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Skeletal muscle fibrosis, Hepatic... OMIM:616263
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Edema, Hyperkalemia, Pleural empyema, Hypocalcemia, Pallor, Pancreatitis, Generaliz... ORPHA:544482
Cornelia De Lange Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Pyloric stenosis, Cryptorchidism, Cleft ... ORPHA:199
Alternating Hemiplegia Of Childhood
Pallor, Abnormal autonomic nervous system physiology, Dehydration ORPHA:2131
Phocomelia, Schinzel Type
Intrauterine growth retardation, Hydrops fetalis ORPHA:2879
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Abnormal lung lobation, Neonatal death, Esophageal atresia, Pulmonary artery stenosis, ... OMIM:265380
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatitis, Joint swelling, H... OMIM:619381
Congenital Erythropoietic Porphyria
Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormal circulating porphyrin concentration, Abn... ORPHA:79277
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Cryptorchidism, Congenital diaphragmatic hernia OMIM:617641
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Hypercalcemia, Neoplasm of the liver, Pallor, Ganglioneuromatosis ORPHA:653
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Pallor ORPHA:98849
Histiocytoid Cardiomyopathy
Hepatomegaly, Optic atrophy, Pallor, Pulmonary edema ORPHA:137675
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Pituitary Apoplexy
Hyponatremia, Pallor ORPHA:95613
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Xerostomia, Abnormal pancreas morphology, En... ORPHA:449432
Hepatoerythropoietic Porphyria
Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormal circulating porphyrin concentration, Abn... ORPHA:95159
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Atelosteogenesis Type I
Malrotation of colon, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Cleft palate ORPHA:1190
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Hematochezia, Hamartom... OMIM:175050
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Tropical Endomyocardial Fibrosis
Hepatomegaly, Splenomegaly, Pedal edema, Peripheral edema, Hypoalbuminemia, Ascites ORPHA:75565
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Hypocalcemia, Pallor, Hypophosphatemia, Optic nerve compression ORPHA:667
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Macular e... ORPHA:892
Degcags Syndrome
Hepatomegaly, Premature birth, Polyhydramnios, Echogenic fetal bowel, Breech presentation, Choles... OMIM:619488
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Cardiospondylocarpofacial Syndrome
Gastroesophageal reflux, Decreased testicular size, Congenital diaphragmatic hernia OMIM:157800
Aregenerative Anemia
Pallor ORPHA:101096
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ... ORPHA:99829
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... ORPHA:2330
Fanconi Anemia, Complementation Group D2
Pancytopenia, Esophageal atresia, Cryptorchidism, Reticulocytopenia, Tracheoesophageal fistula, A... OMIM:227646
Incontinentia Pigmenti
Erythema, Optic atrophy, Pallor OMIM:308300
Williams Syndrome
Colonic diverticula, Recurrent respiratory infections, Inguinal hernia, Peptic ulcer, Abnormal de... ORPHA:904
Yunis-Varon Syndrome
Increased nuchal translucency, Redundant neck skin, Hydrops fetalis, Polyhydramnios ORPHA:3472
Witteveen-Kolk Syndrome
Inguinal hernia, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test... OMIM:613406
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Hepatic calcification, Pancreatic c... ORPHA:51608
Esophageal Atresia
Pallor, Absence of stomach bubble on fetal sonography, Polyhydramnios ORPHA:1199
Prolactinoma
Pallor ORPHA:2965
Pallister-Killian Syndrome
Omphalocele, Anal stenosis, Inguinal hernia, Intestinal malrotation, Supernumerary nipple, Congen... OMIM:601803
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Hypoalbuminemia OMIM:614748
Diamond-Blackfan Anemia
Pallor, Nonimmune hydrops fetalis ORPHA:124
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Abnormal lung lobation, Cleft palate, Stillbirth, Adrenal gland dy... OMIM:236680
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... OMIM:164280
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Hypokalemia, Pallor ORPHA:91347
Cardiac Valvular Dysplasia 1
Hydrops fetalis, Edema OMIM:212093
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Premature birth, Pallor OMIM:105650
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:253280
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Congenital hep... ORPHA:564
Peters-Plus Syndrome
Bilobate gallbladder, Diastasis recti, Cryptorchidism, Biliary tract abnormality, Cleft palate, A... OMIM:261540
Chilton-Okur-Chung Neurodevelopmental Syndrome
Aplasia of the right hemidiaphragm, Anterior pituitary hypoplasia, Cryptorchidism, Ankyloglossia,... OMIM:619841
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Pmm2-Cdg
Elevated hepatic transaminase, Lymphedema, Pericardial effusion, Reduced thyroxin-binding globuli... ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Hydrops fetalis ORPHA:93271
Yunis-Varon Syndrome
Redundant neck skin, Premature birth, Polyhydramnios, Hydrops fetalis, Intrauterine growth retard... OMIM:216340
Goodpasture Syndrome
Pallor, Increased blood urea nitrogen OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Low 5-minute APGAR score, Pallor, Low 1-minute APGAR score ORPHA:99125

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hlx

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hlx.

No publications found that use IMPC mice or data for Hlx.

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MGI Allele Allele Type Produced
Hlxtm97317(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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