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Gene: Bhlha15 MGI:891976

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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:
basic helix-loop-helix family, member a15
Synonyms:
Bhlhb8,  1810009C13Rik,  Mist1

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 Bhlha15 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 Bhlha15 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia OMIM:615935
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Steatorrhea, Exocrine pancreatic insufficiency OMIM:618752
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... OMIM:167800
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency OMIM:609812
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Chylous Ascites
Lymphedema, Neoplasm, Abnormal intestine morphology, Ascites, Pancreatitis ORPHA:1160
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Abnormal large intestine morphology, Esophageal neoplasm, Weight loss, Ascites ORPHA:2198
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Pancreatic insufficiency, combined exocrine
Anal atresia, Exocrine pancreatic insufficiency OMIM:260450
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency OMIM:612714
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss ORPHA:2023
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites ORPHA:890
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Malabsorption, Cryptorchidism, Hypohidrosis, Exocrine pancreatic insuffici... ORPHA:452
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphoma, Ascites ORPHA:100025
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Weight loss ORPHA:52416
Malignant Peritoneal Mesothelioma
Peritonitis, Ileus, Pedal edema, Weight loss, Neoplasm, Ascites ORPHA:168811
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach ORPHA:618
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Basal cell car... ORPHA:314473
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cel... OMIM:145001
Wolman Disease
Hepatomegaly, Cachexia, Splenomegaly, Esophageal varix, Ascites, Steatorrhea, Hepatic failure ORPHA:75233
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Celiac disease, Hepatosplenomegaly, Abnormal intestine morphology, Achalasia, Hypothyroidism, Exo... OMIM:615952
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss ORPHA:86893
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Steatorrhea, Hepatic steatos... OMIM:616263
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... OMIM:614350
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Polyhydramnios, Hemangiomatosis, Visceral angiomatosis, Hydrops fetalis, Ascites ORPHA:2123
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Portal vein hypoplasia, Hydrops fetalis, Ascites OMIM:619433
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m... ORPHA:449432
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Jaundice, Extrahepatic cholestasis, Hep... ORPHA:1333
Diencephalic Syndrome
Neoplasm of the nervous system, Cachexia, Decreased body weight ORPHA:1672
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Inflammation of the large intestine, Hepatocellu... OMIM:232220
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss, Sarcoma ORPHA:66661
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Chronic diarrhea, Macronodular... OMIM:557000
Glycogen Storage Disease Iv
Failure to thrive, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fetalis,... OMIM:232500
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Intestinal obstruction, Porta... ORPHA:131
Shwachman-Diamond Syndrome 2
Hepatomegaly, Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic in... OMIM:617941
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease OMIM:174050
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Cachexia, Lymphedema, Malabsorption, Splenomegaly, Furrowed t... ORPHA:2930
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, P... OMIM:602347
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic hepatitis, Cirrhosis... OMIM:269200
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis OMIM:619462
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma ORPHA:438274
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Failure to thrive in infancy OMIM:619175
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss ORPHA:64741
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Intestinal obstruction, Weight loss, Inflammation of the large in... ORPHA:26790
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice... ORPHA:858
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Pleural effusion, Fibrosarcoma, Ascites, Ab... ORPHA:314478
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Jaundice, Spinal cord tumor, Ovarian neopl... ORPHA:370348
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Pilomatrixom... ORPHA:247806
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive ORPHA:172
Hydrops Fetalis
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... ORPHA:1041
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Hydrops fetalis, High palate, Ascites OMIM:269920
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Hamartoma, Cleft palate, Weight loss ORPHA:141152
Johanson-Blizzard Syndrome
Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Anal atresia, Exocrine pancre... ORPHA:2315
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... OMIM:614480
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, L... OMIM:133180
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo... ORPHA:97278
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Lymphoma, Weight loss, Pleural effusion ORPHA:545
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Median cleft lip and palate, Pancreatic fibrosis, Decreased res... ORPHA:699
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Central hypothyroidism, Abnormality of the liver, Hypothyroidism, Exocrin... ORPHA:1667
Multiple Symmetric Lipomatosis
Hepatomegaly, Multiple lipomas ORPHA:2398
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Hepatic fibrosis,... OMIM:263520
Mody
Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insufficiency ORPHA:552
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormality of the tongue, Gastrointestinal infarctions, Hepatic amyloido... ORPHA:314652
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Large for gestational age ORPHA:2432
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Weight loss, Slender build OMIM:613662
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Adrenocortical ade... ORPHA:97261
Lymphoproliferative Syndrome 2
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Hodgkin lymphoma, Hepatosplen... OMIM:615122
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Nonimmune hydro... OMIM:617049
Peutz-Jeghers Syndrome
Neoplasm of the nose, Pancreatic adenocarcinoma, Intestinal obstruction, Stomach cancer, Biliary ... ORPHA:2869
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... OMIM:232700
Rauch-Steindl Syndrome
Hepatomegaly, Chronic constipation, Exocrine pancreatic insufficiency OMIM:619695
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive ORPHA:67046
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Jaundice, Cholestasis, Pedal edema, Ascites ORPHA:615
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo... ORPHA:97283
Free Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hydrops fetalis, Ascites ORPHA:834
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Cryptorchidism... ORPHA:564
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Nonimmune hydrops fetalis, Portal... ORPHA:367
Vipoma
Dehydration, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the l... ORPHA:97282
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract... ORPHA:79301
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Myeloproliferative disorder OMIM:607685
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites OMIM:608776
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617052
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Aredyld Syndrome
Splenomegaly, Hepatomegaly, Refractory anemia with ringed sideroblasts, Cachexia ORPHA:1133
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, Hepatic fibrosis, Ci... OMIM:300972
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Hematological neoplasm, Cachexia, Splenomegaly, Hepatosplenome... ORPHA:824
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Biliary cirrhosis, Hepatosplenome... OMIM:219700
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Fetal Parvovirus Syndrome
Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, High, narrow palate, Cryptorchidism ORPHA:2849
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Decreased liver function, He... ORPHA:42
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios ORPHA:1046
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Jaundice, Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of ex... ORPHA:93111
Muir-Torre Syndrome
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A... ORPHA:587
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... OMIM:619418
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula... OMIM:235200
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Neoplasm of... ORPHA:100086
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Edema, Cryptorchidism, Cholestasis, Protein-losing enteropathy, ... OMIM:608104
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309031
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Microglossia, Hydrops fetalis, Nephroblastoma, Ascites OMIM:253250
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Majeed Syndrome
Hepatomegaly, Cachexia, Edema, Malabsorption, Splenomegaly, Weight loss, Failure to thrive ORPHA:77297
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive OMIM:230350
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Aggressive Systemic Mastocytosis
Portal hypertension, Hematological neoplasm, Hypersplenism, Malabsorption, Hepatosplenomegaly, We... ORPHA:98850
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... ORPHA:100085
Galactose Mutarotase Deficiency
Hepatomegaly, Failure to thrive, Decreased liver function, Cholestasis ORPHA:570422
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Macroglossia, Recurrent pancreatitis, Hypoplastic n... OMIM:618268
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Deeah Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:619004
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Failure to thrive OMIM:269840
Laryngeal Neuroendocrine Tumor
Weight loss, Neuroendocrine neoplasm, Neoplasm of the larynx, Adrenocorticotropic hormone excess ORPHA:100083
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... ORPHA:93941
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:615158
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Sandhoff Disease
Splenomegaly, Hepatomegaly, Failure to thrive ORPHA:796
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Pleural effusio... OMIM:614702
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Malabsorption, Cirrhosis, Exocrine pancreatic insufficiency OMIM:616539
Shwachman-Diamond Syndrome 1
Hepatomegaly, Steatorrhea, Exocrine pancreatic insufficiency OMIM:260400
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Failure to thrive secondary to recurrent infections OMIM:608971
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... OMIM:257200
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Pancreatic aplasia, High palate, Exocrine pancreatic insufficiency OMIM:618500
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo... ORPHA:97280
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites OMIM:256550
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma... ORPHA:252183
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Atrophic muscularis propria, Weight loss, Macrovesicular... ORPHA:298
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog... ORPHA:1332
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... OMIM:251880
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss, Malabsorption ORPHA:42642
Moynahan Syndrome
Cachexia ORPHA:2574
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... OMIM:175200
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Malabsorption, Splenomegaly, Jaundice, C... OMIM:214900
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Perlman Syndrome
Distal ileal atresia, Renal hamartoma, Edema, Polyhydramnios, Large for gestational age, Cryptorc... OMIM:267000
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Enlargement of parotid gland, Nod... ORPHA:79078
Pleural Mesothelioma
Hepatomegaly, Pleural effusion, Weight loss ORPHA:50251
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Cirrh... OMIM:215600
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Klippel-Trénaunay Syndrome
Hepatomegaly, Edema, Hydrops fetalis, Hemangioma, Ascites ORPHA:90308
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Weight loss ORPHA:100024
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Disseminated cutaneous warts, Pericardial effusion, Weight loss, Inte... ORPHA:90362
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intestinal malrotation, Biliary atresia, Congenital hypothyroidism, Pancreatic aplasia, Aplasia/H... ORPHA:2255
Kaposi Sarcoma
Lymphoproliferative disorder, Lymphedema, Abnormality of the spleen, Neoplasm by anatomical site,... ORPHA:33276
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Neoplasm ORPHA:391
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Pedal edema, Ascites ORPHA:381
Hereditary Chronic Pancreatitis
Jaundice, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Renpenning Syndrome
Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia ORPHA:3242
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Weight loss, Macroglossia, Neoplasm, Neoplasm of the breast, Neoplasm of the re... ORPHA:2221
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... ORPHA:69665
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Lymphe... ORPHA:109
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Failure to thrive, Portal hypert... OMIM:619487
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis OMIM:175500
Cystic Fibrosis
Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastroesophageal reflux... ORPHA:586
Orofaciodigital Syndrome Type 1
Hamartoma of tongue, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Lobulated tongu... ORPHA:2750
Nephroblastoma
Weight loss, Neoplasm of the lung, Neoplasm of the liver, Neoplasm, Nephroblastoma ORPHA:654
Rhabdoid Tumor
Renal neoplasm, Weight loss, Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma ORPHA:69077
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Abnormal intestine morphology, Intest... OMIM:226300
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of the large... ORPHA:171
Eosinophilic Gastroenteritis
Edema, Malabsorption, Weight loss, Protein-losing enteropathy, Steatorrhea, Ascites ORPHA:2070
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Failure to thrive, Dehydration ORPHA:28
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Shwachman-Diamond Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Fat malabsorption, Steatorrh... ORPHA:811
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Lymphoma, Pleural effusion, Ascites ORPHA:36412
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Jaundice, Ascites, Hepatic failure ORPHA:79239
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mass, Genital neop... ORPHA:2126
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Cirrhosis, Ascites ORPHA:779
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Biliary tract abnormality, Exocrine pancreatic insufficiency OMIM:137920
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Ascites, Edema OMIM:603278
Intestinal Dysmotility Syndrome
Failure to thrive, High palate, Polyhydramnios, Weight loss OMIM:620045
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Portal hypertension, Cryptorchidism, Macronodular cirrhosis, Hepatic fibrosis, ... OMIM:620005
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal fibrosis, Hepatic fibrosis... ORPHA:369
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Liposarcoma
Weight loss, Sarcoma ORPHA:69078
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... ORPHA:2470
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Failure to thrive, Cystoid macular e... OMIM:613861
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios ORPHA:2204
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Polyhydramnios, Lymphedema, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidi... OMIM:235255
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundice, Biliary tract abnormality,... ORPHA:1414
Alg8-Cdg
Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Edema, Hydrops fetal... ORPHA:79325
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hydrocele testis, Pleural ... ORPHA:69735
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... ORPHA:143
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... ORPHA:388
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... ORPHA:139411
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice OMIM:237800
Poems Syndrome
Lymphoproliferative disorder, Edema, Pericardial effusion, Weight loss, Pleural effusion, Hemangi... ORPHA:2905
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Hyper... ORPHA:275761
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis, Edema OMIM:105200
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Leukemia OMIM:614470
Tempi Syndrome
Transudative pleural effusion, Hemangioma, Ascites ORPHA:284227
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Lymphedema, Splenomegaly, Acute leukemia, Weight loss, Myeloproliferative disorder ORPHA:3226
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Cachexia, High palate, Polyhydramnios OMIM:618186
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Small for gestational age, Neoplasm, Hep... ORPHA:2959
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis OMIM:613313
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Peritoneal Cystic Mesothelioma
Peritonitis, Neoplasm, Weight loss ORPHA:168816
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... OMIM:607765
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure ORPHA:75234
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Edema, Splenomegaly, Lymphoma, Neoplasm of the skin ORPHA:2584
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Pleural effusion, Ascites OMIM:617397
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Tuberculosis
Weight loss ORPHA:3389
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Christianson Syndrome
Cachexia ORPHA:85278
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia ORPHA:884
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Gaucher Disease Type 1
Hepatomegaly, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Cirrhosis, Ascites,... ORPHA:77259
Whipple Disease
Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Pedal edema ORPHA:3452
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Mitochondrial Myopathy, Infantile, Transient
Macroglossia, Hepatomegaly, Failure to thrive OMIM:500009
Cirrhotic Cardiomyopathy
Hepatomegaly, Cardiomegaly, Jaundice, Peripheral edema, Cirrhosis, Left ventricular hypertrophy, ... ORPHA:57777
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Feingold Syndrome
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia ORPHA:1305
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Hepatosp... ORPHA:1655
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Dengue Fever
Hepatomegaly, Ascites ORPHA:99828
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:256810
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Melioidosis
Liver abscess, Abnormality of the spleen, Hepatitis, Abnormal parotid gland morphology, Splenic a... ORPHA:31202
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidis... ORPHA:116
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Lymphoma, Abnormal intestine morphology, Intestinal lymphoid nodular ... ORPHA:397596
Liver Disease, Severe Congenital
Hepatomegaly, Chronic gastritis, Biliary hyperplasia, Intrahepatic cholestasis, Jaundice, Portal ... OMIM:619991
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Cleft palate, Pleural e... OMIM:616897
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Alagille Syndrome 1
Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ducts, Cirrhosis, Prol... OMIM:118450
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cachexia ORPHA:220295
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Hepatomegaly, Splenomegaly, Oral ulcer, Enlargement of... ORPHA:50918
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega... OMIM:276700
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Immunodeficiency 54
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Adrenocorticotropic hormone excess, Fai... OMIM:609981
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Polyhydramnios ORPHA:2774
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Nonimmune hydrops fetalis, Decreased liver function, Ascites, Oligohyd... OMIM:617021
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, Polyhydramnios, Microvesicular hepatic steatosi... OMIM:617156
Ovarian Hyperstimulation Syndrome
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... ORPHA:64739
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency ORPHA:508498
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Cystinosis, Nephropathic
Hepatomegaly, Oral-pharyngeal dysphagia, Splenomegaly, Hypohidrosis, Primary hypothyroidism, Dysp... OMIM:219800
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased body weight, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Spl... OMIM:608013
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Portal hypertension, J... ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hepatic failure, Hepatic steatosis OMIM:617872
Mpi-Cdg
Hepatomegaly, Portal hypertension, Edema, Hepatic fibrosis, Decreased liver function, Protein-los... ORPHA:79319
Congenital Sialidosis Type 2
Hepatomegaly, Edema, Protruding tongue, Hepatosplenomegaly, Ascites ORPHA:93400
Gracile Bone Dysplasia
Asplenia, Ascites, Hypoplastic spleen, Failure to thrive, Ankyloglossia OMIM:602361
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... ORPHA:99880
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... ORPHA:210122
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Hepatomegaly OMIM:603902
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Cachexia, Failure to thrive, Supernumerary nipple ORPHA:217346
Primary Biliary Cholangitis
Portal hypertension, Celiac disease, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepati... ORPHA:186
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Dehydration, Failure to thrive, Pancreatitis ORPHA:79312
Adams-Oliver Syndrome
Failure to thrive, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, Cirrhosis,... ORPHA:974
Nijmegen Breakage Syndrome
Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexia, Lymphoma, T-cell lymphoma, Cl... ORPHA:647
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Dehydration, Failure to thrive OMIM:618958
Systemic Capillary Leak Syndrome
Pedal edema, Weight loss, Multiple myeloma, Pleural effusion, Pancreatitis, Pulmonary edema ORPHA:188
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Edema, Weight loss ORPHA:33577
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Hepatic ... OMIM:613489
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Tracheoesophageal fistula, Weight loss, Neoplasm of the lung, Ma... ORPHA:142
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Cardiomegaly, Pericardial effusion, Ascites, Pulmonary edema OMIM:115197
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Hepatomegaly, Jaundice, Edema OMIM:603552
Campomelia, Cumming Type
Hepatomegaly, Myelodysplasia, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops ... ORPHA:1318
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Xerostomia,... ORPHA:85443
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Immunodeficiency, Common Variable, 2
Splenomegaly, Hepatomegaly, Neoplasm, Lymphoma OMIM:240500
Farber Disease
Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice... ORPHA:333
Idiopathic Achalasia
Weight loss ORPHA:930
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Elevated circulatin... OMIM:619573
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites ORPHA:584
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Malabsorption, Splenomegaly, Lymphom... ORPHA:1775
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Failure to thrive OMIM:615085
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Hepatomegaly OMIM:618852
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Hydrops fetalis, Cleft palate, High palate, Hepatic fibrosis, Ascites OMIM:614091
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:278000
Sarcoidosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Portal hypertension, Abnormal reproducti... ORPHA:797
Pancreatoblastoma
Jaundice, Vomiting, Pancreatic calcification, Diarrhea ORPHA:677
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Failure to thrive, Ascites, Cachexia OMIM:610965
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Edema OMIM:611719
Erythrokeratodermia Variabilis
Abnormal testis morphology, Neoplasm of the skin, Weight loss ORPHA:317
Thymic Carcinoma
Neoplasm of the thymus, Palpebral edema, Edema, Weight loss ORPHA:99868
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, B-cell lymphoma, Edema, Lymphedema, Celiac disease... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Failure to thrive, Edema, Hepatic fibrosis, Protein-losing enterop... OMIM:602579
Necrotizing Enterocolitis
Peritonitis, Ascites, Small for gestational age, Edema ORPHA:391673
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Polyhydramnios, Increas... ORPHA:1052
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, ... OMIM:614602
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Oligohydramnios ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... ORPHA:95427
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Edema, Polyhydramnios, Splenomegaly, L... OMIM:269860
Gaucher Disease, Type Iii
Splenomegaly, Hepatomegaly, Decreased body weight OMIM:231000
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Juvenile Polyposis Of Infancy
Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Hamartomatous poly... ORPHA:79076
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Abnormality of the pancreas, Weight loss, Abnormal ... ORPHA:54251
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... ORPHA:2929
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Reticular Dysgenesis
Failure to thrive, Weight loss, Dehydration, Malabsorption ORPHA:33355
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Polyhydramnios, Intrahepatic cholestasis, Ascites, ... OMIM:606812
Cystic Echinococcosis
Elevated hepatic transaminase, Hepatomegaly, Abnormal peritoneum morphology, Abnormality of the t... ORPHA:400
Hemochromatosis, Type 2A
Splenomegaly, Hepatomegaly, Cirrhosis OMIM:602390
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon, Cachexia ORPHA:52503
Polycythemia Vera
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute le... ORPHA:729
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... OMIM:616860
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Dehydration, Weight ... ORPHA:92050
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma, Weight loss ORPHA:97286
Propionic Acidemia
Hepatomegaly ORPHA:35
Wilson Disease
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... OMIM:277900
Microsporidiosis
Cholangitis, Cachexia, Abnormality of the spleen, Peritonitis, Abnormality of the parathyroid gla... ORPHA:2552
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Ganglioneuroblastoma, Weight loss, Neuroblastoma, Failure to thrive, Ganglioneuroma OMIM:256700
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... OMIM:203700
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Hemochromatosis, Type 4
Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:606069
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Gastroesophageal reflux, Dysphagia, Exo... ORPHA:508488
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Failure to thrive, Joint swelling OMIM:228000
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Splenomegaly ORPHA:507
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size ORPHA:813
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, ... ORPHA:37042
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Edema, Splenomegaly, Lymphoma, Neoplasm of the skin ORPHA:3162
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Failure to thrive, High palate ORPHA:50812
Aceruloplasminemia
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration ORPHA:48818
Wild Type Attr Amyloidosis
Hepatomegaly, Pedal edema, Weight loss, Pleural effusion, Pulmonary edema ORPHA:330001
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:230400
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Hepatomegaly, Failure to thrive OMIM:618495
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Hepatomegaly, Peptic ulcer, Myelodysplasia, Hematological neoplasm, Splen... ORPHA:98849
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hepatomegaly, Hodgkin lymphoma, Celiac disease OMIM:619375
Graves Disease, Susceptibility To, 1
Abnormal abdomen morphology, Weight loss, Goiter OMIM:275000
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Intestinal malrotati... OMIM:613658
Huntington Disease-Like 2
Weight loss ORPHA:98934
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Failure to thrive, Hypoplasia of the thymus OMIM:300400
Meckel Syndrome, Type 3
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... OMIM:607361
Indolent Systemic Mastocytosis
Splenomegaly, Hepatomegaly, Hematological neoplasm ORPHA:98848
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Portal hypertension, Malabsorption, Cryptorchidism, Intrahepat... OMIM:243800
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Microvesicular hepatic steatosis, Cholestasis, Dehydr... OMIM:619377
Transaldolase Deficiency
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly... OMIM:606003
Benign Schwannoma
Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph... ORPHA:252164
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Esophageal varix, Dehydration,... OMIM:263200
Lymphoproliferative Syndrome 1
Hepatomegaly, Lymphoproliferative disorder, B-cell lymphoma, Pericardial effusion, Splenomegaly, ... OMIM:613011
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Protein-losing enteropathy, Edema, Dehydration ORPHA:103910
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... ORPHA:79303
Lymphangioleiomyomatosis
Renal neoplasm, Lymphedema, Retinal hamartoma, Renal angiomyolipoma, Chylopericardium, Chylothora... ORPHA:538
X-Linked Intellectual Disability, Cabezas Type
High palate, Decreased testicular size, Cachexia, Obesity ORPHA:85293
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Thymoma
Neoplasm of head and neck, Ulcerative colitis, Weight loss, Neoplasm of the lung, Neoplasm, Neopl... ORPHA:99867
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Failure to thrive, Weight loss ORPHA:1842
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car... ORPHA:100080
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Facial edema, Pedal edema, Hydrocele testis, Anasarca, Pleural effusion, ... ORPHA:567546
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Ascites, Truncal obesity, Hepatic failure OMIM:301072
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Weight loss, Chronic myelogenous leukemia ORPHA:71493
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, High palate, Pleural effusion, Ascites OMIM:620369
Immunodeficiency 27A
Splenomegaly, Weight loss, Hepatosplenomegaly OMIM:209950
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Cavernous hemangioma, Hydrocele testis, Hemangioma, Ascites OMIM:620244
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati... OMIM:603041
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Cryptorchidism, Anasarca, Protein-losing enteropathy, Pleur... OMIM:618183
X-Linked Agammaglobulinemia
Malabsorption, Hepatitis, Weight loss, Glossoptosis, Neoplasm, Failure to thrive ORPHA:47
Familial Mediterranean Fever
Acute hepatic failure, Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis... ORPHA:342
Atelosteogenesis Type I
Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate ORPHA:1190
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism OMIM:618107
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Rectal abscess, Pleural effusion, Ascites OMIM:306400
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice OMIM:615631
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Weight loss, J... ORPHA:465508
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pleural effusion, Joint swelling ORPHA:85414
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Edema ORPHA:158029
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Dehydration ORPHA:27
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic failure, Ascites OMIM:259720
Ascites, Chylous
Chylous ascites OMIM:208300
Immunodeficiency 7
Splenomegaly, Hepatomegaly, Failure to thrive OMIM:615387
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Failure to thrive in infancy, Dehydration, Weight loss ORPHA:171876
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Hennekam Syndrome
Benign neoplasm of the central nervous system, Lymphedema, Pericardial effusion, Splenomegaly, Ma... ORPHA:2136
Trisomy 18
Cachexia, Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia, Oligohyd... ORPHA:3380
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Hepatomegaly, Myelodysplasia, Splenomegaly, Refractory anemia with ringed... ORPHA:75564
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... ORPHA:99889
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Pituitary prolactin ... ORPHA:913
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Refractory Celiac Disease
Elevated hepatic transaminase, Villous atrophy, Malabsorption, Lymphoma, Weight loss, Protein-los... ORPHA:398063
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Weight loss, Ulcerative colitis, Inflammation of the large intestine OMIM:266600
Isaacs Syndrome
Weight loss ORPHA:84142
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Omenn Syndrome
Hepatomegaly, Edema, Splenomegaly, Lymphoma, Failure to thrive ORPHA:39041
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Myeloproliferative disorder, P... ORPHA:79456
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
Central Diabetes Insipidus
Failure to thrive, Dehydration, Weight loss ORPHA:178029
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car... ORPHA:100082
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hepatosplenomegaly ORPHA:86884
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:93552
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice OMIM:618892
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... ORPHA:1018
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Cerebral edema OMIM:201450
Fish-Eye Disease
Splenomegaly, Hepatomegaly ORPHA:79292
Felty Syndrome
Splenomegaly, Hepatomegaly, Lymphoma, Weight loss ORPHA:47612
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Jaundice, Abnormal mesentery m... ORPHA:284
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Weight loss, Pleural empyem... ORPHA:67
Rett Syndrome
Cachexia OMIM:312750
Schwartz-Jampel Syndrome
Polyhydramnios, Cachexia, Cleft palate, Odontogenic neoplasm, High palate, Decreased body weight,... ORPHA:800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Failure to thrive, Pancreatitis, Dehydration OMIM:251000
Turcot Syndrome With Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Pedal edema ORPHA:422
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:435651
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Lymphedema, Retinal hamartoma, Neoplasm ... ORPHA:744
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Acute monocytic leukemia, Weight loss ORPHA:514
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, High palate, Constipation OMIM:618162
Oculopharyngodistal Myopathy
High, narrow palate, High palate, Weight loss ORPHA:98897
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Igg4-Related Ophthalmic Disease
Cholangitis, Orchitis, Retroperitoneal fibrosis, Abnormality of the anterior pituitary, Enlarged ... ORPHA:449563
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hy... OMIM:604292
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Ascites ORPHA:2848
Bohring-Opitz Syndrome
Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Narrow palate, Gastroesopha... OMIM:605039
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Macroglossia, Anasarca, Peripheral edema, Pleural effusion, A... OMIM:261740
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... OMIM:129900
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Polyhydramnios, Fetal ascites, Lymphedema, Hydrocele testis OMIM:620014
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Splenomegaly, Abnormality of the spleen, Esophageal varix, Hepatosplenomegaly, Gastric ... ORPHA:2072
Pneumocystosis
Pleural effusion, Neoplasm, Weight loss ORPHA:723
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries, Abnormal sa... ORPHA:2298
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... ORPHA:2363
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Weight loss, Pulmonary carcinoid... ORPHA:97287
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... OMIM:610199
Hypercalcemia, Infantile, 1
Failure to thrive, Dehydration, Weight loss OMIM:143880
Wolfram Syndrome 2
Gastric ulcer, Oligomenorrhea, Primary amenorrhea OMIM:604928
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... OMIM:261680
Camurati-Engelmann Disease
Splenomegaly, Hepatomegaly, Slender build, Cachexia ORPHA:1328
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Attrv30M Amyloidosis
Weight loss, Cardiomegaly ORPHA:85447
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Hepatomegaly, Elevated hepatic iron concentration OMIM:615234
Polymyositis
Hepatomegaly, Breast carcinoma, Weight loss ORPHA:732
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, High palate, Oligohydramnios OMIM:619053
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly OMIM:620296
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Hepatomegaly, Failure to thrive, Laryngeal papilloma OMIM:617388
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Immunodeficiency 22
Failure to thrive, Ascites OMIM:615758
Tropical Endomyocardial Fibrosis
Hepatomegaly, Cachexia, Cardiomegaly, Splenomegaly, Pedal edema, Peripheral edema, Ascites ORPHA:75565
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Esophageal varix, Hepatocellular adeno... ORPHA:264580
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Abnormality of the liver, Ascites ORPHA:464321
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
17Q12 Microdeletion Syndrome
Cryptorchidism, Pancreatic aplasia ORPHA:261265
Gitelman Syndrome
Parathyroid adenoma, Pericardial effusion, Failure to thrive, Neoplasm of the pancreas ORPHA:358
Adrenocortical Carcinoma
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Increased body weight, Weight l... ORPHA:1501
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Huntington Disease-Like 2
Weight loss OMIM:606438
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis OMIM:613280
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Midgut malrotation, Ovarian neopla... ORPHA:100079
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Weight loss ORPHA:94080
Congenital Enterovirus Infection
Polyhydramnios, Fetal ascites, Pericardial effusion, Hepatitis, Cholestasis, Hydrops fetalis, Ple... ORPHA:292
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Goiter OMIM:188580
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Splenomegaly, Jaundice, Hydrops fetalis, Hepatosplenomegaly, Ascites... ORPHA:646
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... ORPHA:276621
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Paraganglioma, Atypical pulmonary carci... ORPHA:100075
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericardial effusion, Splenomegaly, Hepatitis, Hepat... ORPHA:781
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Astrocytoma, Lymphoma, Polycystic ovaries, Cirrhosis, Hepatic s... ORPHA:79086
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Periorbital edema, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus,... OMIM:613177
Eosinophilic Fasciitis
Muscular edema, Edema, Weight loss ORPHA:3165
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Lipid accumulat... ORPHA:20
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Weight loss ORPHA:160148
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... ORPHA:2088
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal... ORPHA:29072
Gamma-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Neoplasm of the tongue ORPHA:100026
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Edema OMIM:619183
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Splenomegaly, Prolonged neonatal jau... OMIM:257220
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Goiter OMIM:613239
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Intestinal obstruction, Primary testicular failure, Intestinal perforation, Hepatos... ORPHA:85450
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Weight loss ORPHA:411703
Beta-Ketothiolase Deficiency
Hepatomegaly, Weight loss, Edema, Dehydration ORPHA:134
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Tracheoesophageal fistula, High ... OMIM:164280
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cryptorchidism, Splenomegaly ORPHA:191
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia ORPHA:1969
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Small for gestational age, Splenomegaly, Hydrops fetalis, Prolonged neonatal jaundice OMIM:224120
Juvenile Huntington Disease
Weight loss ORPHA:248111
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Abnormal mesentery morphology, Gastric ulcer, Hypogon... ORPHA:3463
Lymphoid Interstitial Pneumonia
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss ORPHA:79128
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hydrops fetalis, Weight loss, Hepatosplenomegaly OMIM:613673
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Splenomegaly, Enlarged lacrimal glands, Inflammation of the large intestine, Abnorm... OMIM:181000
Citrullinemia, Classic
Hepatomegaly, Failure to thrive, Cerebral edema, Cirrhosis OMIM:215700
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Pericardial effusion, Splenomegaly, Jaundice, Orchitis, Hemoper... ORPHA:99827
Cutis Marmorata Telangiectatica Congenita
Ascites, Capillary hemangioma ORPHA:1556
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Angioedema, Hepatitis, Weight loss ORPHA:139402
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Williams Syndrome
Hypoplasia of penis, Rectal prolapse, Gastroesophageal reflux, Microdontia, Hypogonadotropic hypo... ORPHA:904
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, High palate, Pancreatic aplasia ORPHA:556955
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Ankyloglossia, Cleft palate ORPHA:488642
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Jaundice, Prolonged neonatal jaundice OMIM:607625
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Cryptorchidism, Mac... OMIM:130650
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Hepatic fibrosis, Intrahepatic bile duct di... OMIM:619534
Osteosarcoma
Joint swelling, Weight loss ORPHA:668
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Jaundice OMIM:616689
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Prolonged neonatal jaundice OMIM:185000
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Malabsorption, Splenomegaly, Pyloric stenosis, Tracheoesophageal fis... ORPHA:379
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Celiac disease, Lymphoma, Weight loss, Steatorrhea, Failure to thrive OMIM:212750
Fraser Syndrome 3
Ascites, Nonimmune hydrops fetalis, Oligohydramnios OMIM:617667
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Splenomegaly, Abnormality of... ORPHA:84064
Glossopharyngeal Neuralgia
Schwannoma, Neoplasm, Weight loss ORPHA:221098
Seckel Syndrome
Cachexia ORPHA:808
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Edema, Extrahepatic cholestasis, Weight loss, ... ORPHA:100078
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Cholest... OMIM:261515
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Polycystic liver disease, Hepatic cysts, Pituitary growth hormone cell adenoma ORPHA:730
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Obesity ORPHA:412
Gm1 Gangliosidosis
Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Weight loss, Macroglossia, Failure to thrive ORPHA:354
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age OMIM:616026
Simple Cryoglobulinemia
Viral hepatitis, B-cell lymphoma, Chronic lymphatic leukemia, Weight loss, Multiple myeloma, Mono... ORPHA:91139
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Edema, Cardiomegaly, Polyhydramnios, Pericardial effusion, Hydrops ... ORPHA:51608
Malignant Atrophic Papulosis
Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss, Pleural effusion ORPHA:679
Omenn Syndrome
Splenomegaly, Hepatomegaly, Failure to thrive, Hypoplasia of the thymus OMIM:603554
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Neoplasm of the skin ORPHA:53715
Pyomyositis
Weight loss, Testicular teratoma ORPHA:764
Jacobsen Syndrome
Cryptorchidism, Annular pancreas, Pyloric stenosis OMIM:147791
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Weight loss ORPHA:3208
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration, Weight loss, Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta cells ORPHA:99885
Focal Myositis
Weight loss ORPHA:48918
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipation, Aplasia/Hypoplasia of the... ORPHA:264450
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Esophageal stricture, Xerostomia, Weight loss, Pleural effusion, E... ORPHA:99921
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Annular pancreas, Esophageal atresia, Tracheoesophageal fistula OMIM:227646
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Right ventricular hy... ORPHA:555874
Rothmund-Thomson Syndrome, Type 2
Anteriorly placed anus, Cryptorchidism, Annular pancreas, High palate OMIM:268400
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Igg4-Related Kidney Disease
Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterior pituitary, S... ORPHA:449395
Distal Deletion 12Q
Unilateral cryptorchidism, High, narrow palate, Pituitary adenoma, Esophageal atresia, Biliary at... ORPHA:96149
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophag... OMIM:229850
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosis, Fa... OMIM:207900
Immunodeficiency 31C
Hepatomegaly, Villous atrophy, Splenomegaly, Weight loss, Protein-losing enteropathy, Intussuscep... OMIM:614162
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Perry Syndrome
Weight loss ORPHA:178509
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Celiac disease, Pituitary adenoma, Adrenocorticotropic hormone deficiency, He... ORPHA:199299
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Vomiting, Cleft palate ORPHA:97297
Glycogen Storage Disease Ic
Hepatomegaly, Chronic pancreatitis, Inflammation of the large intestine, Hepatocellular carcinoma... OMIM:232240
Dermatomyositis
Edema, Gastrointestinal stroma tumor, Periorbital edema, Lymphoma, Breast carcinoma, Weight loss,... ORPHA:221
Jacobsen Syndrome
Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Abnormality of the anus, Ectopic anus, ... ORPHA:2308
Yao Syndrome
Xerostomia, Weight loss OMIM:617321
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Furrowed tongue, High palate, Gastroesophageal reflux, Annular pancreas, Duodenal... OMIM:616975
Castleman Disease
Intestinal obstruction, Abdominal mass, Jaundice, Weight loss, Anasarca ORPHA:160
Marfan Syndrome
High, narrow palate, Cachexia, Slender build, Cleft palate ORPHA:558
Argininemia
Hepatomegaly, Micronodular cirrhosis, Portal fibrosis, Cholestasis OMIM:207800
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis OMIM:601539
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Edema, Weight loss ORPHA:324964
Blau Syndrome
Splenomegaly, Abnormal salivary gland morphology, Abnormality of the liver, Xerostomia ORPHA:90340
Eisenmenger Syndrome
Hepatomegaly, Pedal edema, Abnormality of the liver, Peripheral edema, Ascites, Generalized edema ORPHA:97214
Huntington Disease-Like 1
Weight loss ORPHA:157941
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Weight loss, Squamous cell carcinoma of the skin, Malabsorption ORPHA:79430
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia ORPHA:424
Stickler Syndrome
Slender build, Cachexia, Cleft palate, Macroglossia, Glossoptosis, Short hard palate ORPHA:828
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Edema, Pericardial effusion, Splenomegaly, Hepatitis, Weight lo... OMIM:615846
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Idiopathic Chronic Eosinophilic Pneumonia
Pleural effusion, Weight loss ORPHA:2902
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Malabsorption, Intestinal perforation, Trac... ORPHA:537
Norrie Disease
Cachexia, Cryptorchidism, Neoplasm of the eye, Failure to thrive, Vascular neoplasm ORPHA:649
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Coronal hypospadias, X... OMIM:149730
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Hepatomegaly, Failure to thrive, Aplasia of the sweat glands OMIM:612132
Takayasu Arteritis
Weight loss ORPHA:3287
Familial Glucocorticoid Deficiency
Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Failure to thrive ORPHA:361
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Asplenia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Co... OMIM:265380
Rheumatoid Arthritis
Joint swelling, Weight loss OMIM:180300
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Esophageal stricture, Weight loss, Pancreat... ORPHA:36426
Igg4-Related Aortitis
Intestinal obstruction, Weight loss ORPHA:449400
1P36 Deletion Syndrome
Abnormality of the spleen, Cryptorchidism, Pyloric stenosis, Hypothyroidism, Abnormality of the l... ORPHA:1606
Bullous Pemphigoid
Weight loss ORPHA:703
Rat-Bite Fever
Abdominal aseptic abscess, Pancreatitis, Parotitis, Weight loss ORPHA:31205
Chronic Beryllium Disease
Weight loss ORPHA:133
Atresia Of Urethra
Ascites, Oligohydramnios ORPHA:105
Familial Gestational Hyperthyroidism
Goiter, Weight loss, Thyroid hyperplasia ORPHA:99819
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Intestinal malrotation, Duodena... OMIM:135900
8P23.1 Microdeletion Syndrome
Cryptorchidism, High palate, Obesity, Weight loss ORPHA:251071
Acrodermatitis Enteropathica
Malabsorption, Weight loss, Furrowed tongue, Failure to thrive, Glossitis ORPHA:37
Schinzel-Giedion Syndrome
Streak ovary, Aganglionic megacolon, Central hypothyroidism, Anteriorly placed anus, Macroglossia... ORPHA:798
Brucellosis
Hepatomegaly, Liver abscess, Small for gestational age, Hypersplenism, Splenomegaly, Orchitis, We... ORPHA:1304
Polyarteritis Nodosa
Weight loss ORPHA:767
Loeffler Endocarditis
Left ventricular hypertrophy, Weight loss ORPHA:75566
Fanconi Anemia
Meckel diverticulum, Aganglionic megacolon, Myelodysplasia, Aplasia/Hypoplasia of the uvula, Cryp... ORPHA:84
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Weight loss, Hepatosplenomegaly ORPHA:85408
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Erdheim-Chester Disease
Retroperitoneal fibrosis, Joint swelling, Pleural effusion, Weight loss ORPHA:35687
Giant Cell Arteritis
Hepatic failure, Glossitis, Weight loss ORPHA:397
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Multiple Myeloma
Splenomegaly, Pleural effusion, Weight loss ORPHA:29073
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Malt Lymphoma
B-cell lymphoma, Weight loss ORPHA:52417
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, B-cell lymphoma, Gastritis, Splenomegaly, Hepatitis, Weight loss... OMIM:619381
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Peripheral edema, Abnormality of the hepatic vasculature, Pleural eff... ORPHA:1677
Imerslund-Gräsbeck Syndrome
Failure to thrive, Glossitis, Weight loss ORPHA:35858
Mucolipidosis Type Ii
Splenomegaly, Weight loss, Hepatosplenomegaly, Left ventricular hypertrophy, Oligohydramnios ORPHA:576
Pemphigus Vulgaris
Weight loss ORPHA:704
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Weight loss, Malabsorption ORPHA:183
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Addison Disease
Hypoparathyroidism, Primary testicular failure, Celiac disease, Thymoma, Weight loss, Failure to ... ORPHA:85138
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Peripheral edema, Testicular microlithiasis, Weight loss ORPHA:60025
Perry Syndrome
Weight loss OMIM:168605
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Oromandibular Dystonia
Weight loss ORPHA:93958
Fatal Familial Insomnia
Weight loss OMIM:600072
Short Syndrome
Weight loss ORPHA:3163
Behçet Disease
Malabsorption, Orchitis, Splenomegaly, Weight loss, Pleural effusion, Pancreatitis ORPHA:117
Nocardiosis
Pleural effusion, Peritonitis, Liver abscess, Weight loss ORPHA:31204
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pericardial effusion... ORPHA:91347
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Pedal edema, Weight loss ORPHA:49041
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Granulomatosis With Polyangiitis
Periorbital edema, Intestinal obstruction, Pancreatitis, Weight loss ORPHA:900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Perianal abscess, Weight loss, Inflammation of the large intestine, Colitis, A... OMIM:301074
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Weight loss OMIM:607459
Reactive Arthritis
Joint swelling, Inflammation of the large intestine, Weight loss ORPHA:29207
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, High palate, Polyhydramnios, Weight loss ORPHA:2020
Juvenile Dermatomyositis
Palpebral edema, Weight loss ORPHA:93672
Postinfectious Vasculitis
Orchitis, Viral hepatitis, Weight loss ORPHA:48435
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, S... ORPHA:2388
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Testicular adrenal rest tumor, Dehydration, Weight loss, Failure to thrive, Decreased testicular ... ORPHA:90794
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormal prolactin level, Weight loss ORPHA:3385
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Oculopharyngodistal Myopathy 1
High palate, Weight loss OMIM:164310
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Riddle Syndrome
Weight loss ORPHA:420741
Primary Fanconi Renotubular Syndrome
Dehydration, Weight loss ORPHA:3337
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, High palate, Ankyloglossia, Weight loss ORPHA:740
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss, Cystoid macular edema, Macular edema ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450

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 Bhlha15

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 Bhlha15.

No publications found that use IMPC mice or data for Bhlha15.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bhlha15tm96728(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bhlha15tm96728(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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