Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
adaptor protein complex AP-1, mu 2 subunit
Synonyms:
[m]1B,  mu1B,  D9Ertd818e

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ap1m2 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 Ap1m2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropath... OMIM:615863
Diarrhea 9
Failure to thrive, Villous atrophy, Diarrhea OMIM:618168
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Villous atrophy, Protracted diarrhea, Abnormal intestine morphology OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Villous atrophy, Intractable diarrhea, Small for gestational age OMIM:613217
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Decreased LDL cholesterol concentration, Hypo... OMIM:246700
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... ORPHA:329971
Immunodeficiency 31C
Short stature, Diarrhea, Villous atrophy, Delayed puberty, Diabetes mellitus, Growth delay, Abnor... OMIM:614162
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Hematochezia, Weight loss, Abnormal circulating polysaccharide concentration, Protein-l... ORPHA:103910
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Vomiting, Villous atrophy, Secretory diarrhea, Micro... OMIM:619445
Proprotein Convertase 1/3 Deficiency
Malabsorption, Decreased circulating cortisol level, Diarrhea, Reactive hypoglycemia, Villous atr... OMIM:600955
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Lactose Intolerance, Adult Type
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223100
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Steatorrhea, Fat malabsorption, Chronic diarrhea, Growth delay, Increased feca... OMIM:613291
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... ORPHA:95427
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Congenital Lethal Erythroderma
Failure to thrive, Malabsorption, Hypoalbuminemia ORPHA:1954
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Eosinophilic Gastroenteritis
Malabsorption, Elevated circulating C-reactive protein concentration, Steatorrhea, Diarrhea, Abno... ORPHA:2070
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Steatorrhea, Diarrhea, Vomiting, Villous atroph... OMIM:602579
Hirschsprung Disease
Constipation, Short stature, Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Inte... ORPHA:388
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Diarrhea, Vomiting, Protein-losing enteropathy,... ORPHA:79319
Trichohepatoenteric Syndrome 2
Failure to thrive, Bloody diarrhea, Colitis, Small for gestational age, Diarrhea, Decreased serum... OMIM:614602
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Hypoalbuminemia ORPHA:88643
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Multiple gastric polyps, Hepatoblastoma, Fibroade... OMIM:175100
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Diarrhea, Vomiting, Hypoalbuminemia, Abnormal intestine morphology, Secretory di... OMIM:600351
Polyposis Syndrome, Hereditary Mixed, 2
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... OMIM:610069
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Familial Adenomatous Polyposis
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... ORPHA:733
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Astro... OMIM:619101
Refractory Celiac Disease
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Lymphoma, Villous... ORPHA:398063
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Duodenitis, Villous atrophy, Bloody diarrhea OMIM:614328
Alg6-Cdg
Failure to thrive, Macroglossia, Decreased LDL cholesterol concentration, Protein-losing enteropa... ORPHA:79320
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... ORPHA:2494
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Jejunal Atresia
Jejunal atresia OMIM:243600
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Hypoalbuminemia, Chronic d... ORPHA:79327
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Disseminated cutaneous warts, Weight loss, Hypoalb... ORPHA:90362
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Postnatal growth retard... OMIM:232700
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Diarrhea, Vomiting, Neonatal death, Elevated circulating creatinine concentrat... OMIM:608104
Alpha-Heavy Chain Disease
Malabsorption, Hypocalcemia, Lymphoma, Abnormality of the small intestine, Growth delay ORPHA:100025
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia, Abnormal intestine morphology OMIM:606528
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma... OMIM:174900
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Vomiting, Nausea, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... ORPHA:103907
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
High palate, Adenomatous colonic polyposis, Intestinal bleeding, Hepatoblastoma, Desmoid tumors, ... ORPHA:261584
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology ORPHA:2290
Nephrotic Syndrome, Type 1
Hyperlipidemia, Gastroesophageal reflux, Hypoproteinemia, Small for gestational age, Pyloric sten... OMIM:256300
Congenital Short Bowel Syndrome
Failure to thrive, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomiting, ... OMIM:615237
Desmoid Tumor
Malabsorption, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polyposis, Gastrointes... ORPHA:873
Atresia Of Small Intestine
Failure to thrive, Short stature, Intestinal malrotation, Vomiting, Intestinal hypoplasia, Jejuna... ORPHA:1201
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Diarrhea, Hematochez... ORPHA:2929
Cronkhite-Canada Syndrome
Malabsorption, Neoplasm, Stomach cancer, Cachexia, Diarrhea, Furrowed tongue, Intestinal polyposi... ORPHA:2930
Congenital Disorder Of Glycosylation, Type Id
High palate, Failure to thrive, Diarrhea, Vomiting, Bifid uvula, Villous atrophy OMIM:601110
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Pancolitis, Vomiting, Protein-losing enteropathy, Esophagiti... OMIM:619079
Hypercholanemia, Familial 1
Failure to thrive, Fat malabsorption, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Pancreatic Lipase Deficiency
Hypolipidemia, Fat malabsorption, Steatorrhea OMIM:614338
Immunodeficiency 85 And Autoimmunity
Vomiting, Villous atrophy, Chronic diarrhea, Growth delay, Failure to thrive in infancy OMIM:619510
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Temple Syndrome
High palate, Intrauterine growth retardation, Cleft palate, Small for gestational age, Maturity-o... OMIM:616222
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hypoproteinemia, Diarrhea, Vomiting, Intestinal obstruction, Hypoalbuminemia, Grow... OMIM:226300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Postnatal growth retardation, Cleft palate, Small for gestational age, Maturity-onse... ORPHA:96184
Netherton Syndrome
Failure to thrive, Villous atrophy, Intestinal atresia, Abnormal intestine morphology OMIM:256500
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Protein-losing enteropathy OMIM:619063
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Diarrhea, Esophageal varix, Hypercholesterolemia ORPHA:75234
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Malabsorption, Colitis, Villous atrophy, Protracted diarrhea OMIM:209920
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Hyperbilirubinemia, Intestinal malrotation, Di... OMIM:615710
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Large intestinal polyposis, Multiple lipomas, Renal cell carcin... OMIM:135150
Osteootohepatoenteric Syndrome
Failure to thrive, Hypokalemia, Episodic vomiting, Ileoileal intussusception, Increased intestina... OMIM:619377
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Short stature, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoa... OMIM:619868
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Ileus, Villous atrophy, Type I diabetes mellitus, Chronic diarrhea OMIM:304790
Galloway-Mowat Syndrome 6
High palate, Decreased body weight, Decreased response to growth hormone stimulation test, Short ... OMIM:618347
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Hyperplastic colonic po... ORPHA:157794
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Short stature, Truncal obesity, Hypoglycemia, Diabe... ORPHA:181393
Vascular Hyalinosis
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia OMIM:277175
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Intestinal polyp, Lymp... ORPHA:263665
Feingold Syndrome 2
Postnatal growth retardation, Intestinal atresia, Short stature OMIM:614326
Secondary Intestinal Lymphangiectasia
Malabsorption, Intestinal bleeding, Reduced circulating transferrin concentration, B-cell lymphom... ORPHA:90363
Ganglioneuroma
Ganglioneuroma, Neoplasm of the adrenal gland, Multiple intestinal neurofibromatosis, Abnormal re... ORPHA:251992
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Malabsorption, Pituitary adenoma, Ovarian neopl... ORPHA:144
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Xerostomia, Diarrhea, Vomitin... OMIM:175500
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... ORPHA:247798
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive, Intrauterine growth retardation, Hypoalbuminemia OMIM:617156
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Postnatal growth retardation, Maturity-onset diabetes of the young, Hypercholesterol... ORPHA:254531
Feingold Syndrome Type 2
Jejunal atresia, Short stature ORPHA:391646
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126840
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Multiple myeloma, Abnormal circulating fatty-acid concentration, Glycosuria, Po... ORPHA:2298
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Short stature, Diarrhea, Hepatocellular carcinoma, Conjugated hyperbilirubinem... OMIM:601847
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Protein-losing enteropathy, Hyp... OMIM:618183
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Growth delay, Decreased body weight, Gastroesophageal reflux, Constipation, Ab... ORPHA:89842
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Colitis, Lymphoproliferative disorder, Inflammation of the large intestine, Ly... OMIM:614700
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Vomiting, Hypoglycemia, Delayed puberty, Growth delay, Abno... ORPHA:314811
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Delayed menarche, Decreased HDL cholestero... ORPHA:247585
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Diarrhea, Intestinal obstruction, Protracted diarrhea, Hypoalbumi... ORPHA:67
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Small for gestatio... ORPHA:567983
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Papilloma, Multiple gastric polyps, Stomac... ORPHA:480536
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Constipation, Hypercholesterolemia OMIM:301033
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Fat malabsorption, Growt... ORPHA:71
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Type I diabetes mellitus, Failure to thrive in infancy, Chronic diarrhea OMIM:606367
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Short stature, Elevated circulating creatine kinase concentratio... ORPHA:264580
Hepatoportal Sclerosis
Hyperbilirubinemia, Hepatocellular carcinoma, Gastric varix, Esophageal varix, Hypoalbuminemia, G... ORPHA:64743
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Malabsorption, Exocrine pancreatic insufficiency, Hyperbilirubinemia, Steatorr... OMIM:557000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatocellular carcinoma, Elevated circulating creatine kinase c... ORPHA:370
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm, Abnormal large intestine morphology, Narrow palate, Lipoma, Thyroid carcinoma, Uterine ... ORPHA:109
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Vomiting, Pyloric stenosis, Intestinal pseudo-obstruction, Congenital sho... OMIM:300048
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Short stature, Diarrhea, Conjugated hyperbilirubinemia, Fat ma... OMIM:211600
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Villous atrophy, Hypoalb... OMIM:212065
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Short stature, Ketotic hypoglycemia, Increased body weight, Hepatoc... ORPHA:79240
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating g... ORPHA:247598
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Steatorrhea, Cachexia, Duodenal ulcer, Chronic diarrhea ORPHA:3217
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Hyp... OMIM:243150
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Fat malabsorption, Hyperbilirubinemia OMIM:214950
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Hepatocellular carcinoma, Abnormal circulating methionine concentration, Eleva... ORPHA:88618
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Postnatal growth retardation, Celiac disease, Delayed puberty, Short stature OMIM:618985
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption, Chronic diarrhea ORPHA:309108
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Fanconi Anemia, Complementation Group W
Duodenal atresia, Decreased response to growth hormone stimulation test, Myelodysplasia, Growth d... OMIM:617784
Trichohepatoenteric Syndrome 1
Failure to thrive, Intractable diarrhea, Small for gestational age, Short stature, Bifid uvula, H... OMIM:222470
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Esophageal varix, Hypoalbuminemia ORPHA:367
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Mccune-Albright Syndrome
Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circulating corti... OMIM:174800
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Diarrhea, Hypocholesterolemia, Fat malabsorption OMIM:607765
Cap Polyposis
Constipation, Diarrhea, Hematochezia, Colorectal polyposis, Atrophic gastritis, Weight loss ORPHA:160148
Cog8-Cdg
Hypoglycemia, Failure to thrive, Protein-losing enteropathy ORPHA:95428
Duodenal Atresia
Duodenal atresia OMIM:223400
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Short stature, Aplasia of the thymus ORPHA:3004
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia ORPHA:3405
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Ileus, Malabsorption, Colitis, Gastritis, Hypomagnesemia, Hypocalcemia... ORPHA:37042
Lysosomal Acid Lipase Deficiency
Failure to thrive, Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholestero... OMIM:278000
Turcot Syndrome With Polyposis
Melena, Constipation, Hepatoblastoma, Diarrhea, Vomiting, Soft tissue neoplasm, Hematochezia, Bas... ORPHA:99818
Gist-Plus Syndrome
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor OMIM:175510
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hepatocellular carcinoma, Conjugated hyperbilirubinemia... ORPHA:186
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Adrenocortical adenoma, Neuroendocrine neoplasm, Diarrhea,... ORPHA:913
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Short stature, Abetalipoproteinemia, Elevated circulating creatine kinase ... ORPHA:96180
Nephrotic Syndrome, Type 11
High palate, Hypoalbuminemia, Cleft palate, Hypercholesterolemia OMIM:616730
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Intractable diarrhea, Small for gestational ... ORPHA:84064
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Abetalipoproteinemia
Abetalipoproteinemia, Fat malabsorption OMIM:200100
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Hemangioma, Large for gestational age, Neonatal hypoglycemia, Cryptorchidism, L... ORPHA:457485
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steator... ORPHA:14
Congenital Contractural Arachnodactyly
High palate, Slender build, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula ORPHA:115
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Intermittent diarrhea, Hypercholesterolemia, G... ORPHA:263501
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Immunodeficiency 87 And Autoimmunity
Intrauterine growth retardation, Hodgkin lymphoma, Hypokalemia, Increased fecal calprotectin leve... OMIM:619573
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Mild postnatal growth retardation, Rectal prolapse, Protein-losing enteropathy, Hy... OMIM:235510
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Enterocolitis, Short stature, Oropharyngeal squamous cell carcinoma, Diarrhea, Esophageal carcino... ORPHA:391487
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Intractable diarrhea, Colitis, Gastritis, Elevated circulating C-reactive protei... OMIM:619381
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Ovarian cyst, Duodenal a... ORPHA:454840
Benign Schwannoma
Vestibular schwannoma, Abnormal esophagus morphology, Intestinal polyposis, Scleral schwannoma, S... ORPHA:252164
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Adenomatous colonic polyposis, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinom... OMIM:613244
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Colitis, Hypoalbuminemia ORPHA:540
Duodenal Atresia
Annular pancreas, Duodenal atresia ORPHA:1203
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Constipation, Short stature, Hypertriglyceridemia, Hypercholesterol... OMIM:182290
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia, Chronic diarrhea OMIM:618805
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis OMIM:616744
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
High palate, Decreased body weight, Small for gestational age, Short stature, Hypoglycemia, Neona... ORPHA:231140
Alg12-Cdg
Failure to thrive, Gastroesophageal reflux, Intestinal malrotation, Hypocholesterolemia, Hypoalbu... ORPHA:79324
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Slender build, Failure to thrive, Hypocalcemia, Gastroesophageal reflux, Small for g... OMIM:613658
Mungan Syndrome
Barrett esophagus, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstruction, Gastroparesis OMIM:611376
Al Amyloidosis
Macroglossia, Increased circulating NT-proBNP concentration, Xerostomia, Abnormality of the gastr... ORPHA:85443
Mandibuloacral Dysplasia
High palate, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increased circulating fre... ORPHA:2457
Hepatocellular Carcinoma
Neoplasm, Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Diarrhea, Abnormal rectum m... ORPHA:88673
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypopituitarism, Hypoalbuminemia, Short stature OMIM:619013
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Vomiting, Hypoglycemia, Hypoalbuminemia, Growth delay OMIM:251880
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Short stature, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperch... OMIM:612526
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Abnormal serum bile acid concentration, Conju... ORPHA:79303
Galloway-Mowat Syndrome 3
High palate, Failure to thrive, Hiatus hernia, Short stature, Hypoalbuminemia, Intrauterine growt... OMIM:617729
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Esophageal varix, Hypercholesterolemia... OMIM:619662
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Immunodeficiency 27A
Weight loss, Diarrhea, Hypoalbuminemia OMIM:209950
Congenital Generalized Lipodystrophy
Failure to thrive, Hyperinsulinemia, Macroglossia, Insulin resistance, Increased C-peptide level,... ORPHA:528
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Oculoskeletodental Syndrome
Hypocalcemia, Macroglossia, Small for gestational age, Short stature, Protein-losing enteropathy,... OMIM:618440
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia, Growth delay OMIM:306000
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hypoglycemia, Hyperammonemia ORPHA:664
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Short stature, Hepatocellular carcinoma, Hypoglycemia, Delayed... ORPHA:369
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Constipation,... ORPHA:2126
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... ORPHA:567548
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... ORPHA:2089
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Adenocarcinoma of the large intestine, Hepatocellular carcino... ORPHA:171
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia OMIM:617575
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Small for gestational age, Elevated circulating creatine kinase concentration,... OMIM:619055
Laron Syndrome
Severe short stature, Truncal obesity, Hypoglycemia, Delayed puberty, Hypercholesterolemia ORPHA:633
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased serum thromboxane B2, Esophageal ulceration, Decreased circulating 12-H... OMIM:618372
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Neoplasm, Cleft palate, Stomach cancer, Short stature, Nephroblastoma, Rhabdomy... ORPHA:1052
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Meckel diverticulum ORPHA:163961
Feingold Syndrome
Annular pancreas, Duodenal atresia, Esophageal atresia, Short stature ORPHA:1305
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Sho... ORPHA:1667
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Diarrhea, Neonatal death, Jejunal atresia, Growth delay, Microcolon, Increased circulating very l... OMIM:609313
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Hypoinsu... ORPHA:552
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Hepatocellular carcinoma, Diabetes mellitus, Obesity, Over... ORPHA:69663
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Diarrhea, Increased circulating prolactin concentration, Pituitary prolac... OMIM:131100
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Uterine neoplasm, Multiple gastri... OMIM:175200
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Obesity, Meckel diverticulum, Small for gestational age ORPHA:777
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Short stature, Hypoalbuminemia, Decreased circulating copper concentration, De... OMIM:242150
Esophageal Atresia
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... ORPHA:1199
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin... ORPHA:86816
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Increased level of galactitol in ... ORPHA:79237
Smith-Magenis Syndrome
Gastroesophageal reflux, Constipation, Cleft palate, Short stature, Hypertriglyceridemia, Delayed... ORPHA:819
Harrod Syndrome
High palate, Failure to thrive, High, narrow palate, Malrotation of small bowel, Pyloric stenosis... OMIM:601095
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Serkal Syndrome
Growth delay, Malrotation of small bowel ORPHA:139466
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Fat malabsorption, Hyperbilirubinemia ORPHA:79302
10Q22.3Q23.3 Microdeletion Syndrome
Failure to thrive, Breast aplasia, Intestinal polyposis ORPHA:276413
Wilson Disease
Hypoparathyroidism, Increased circulating copper concentration, Hyperbilirubinemia, Hepatocellula... OMIM:277900
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Meckel diverticulum, Short stature, Pyloric stenosis, Bilateral cryptorchidism... OMIM:616395
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hyperlipidemia, Enterocolitis, Short stature, Hepatocellular carcinoma, Diarrh... ORPHA:79259
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Hypoglycemia, Intrauterine growth retardation, Hyperammonemia OMIM:618253
Galloway-Mowat Syndrome 1
High palate, Hiatus hernia, Small for gestational age, Short stature, Hypoalbuminemia, Intrauteri... OMIM:251300
Microform Holoprosencephaly
Duodenal atresia, Cleft palate, Short stature, Hemangioma, Panhypopituitarism, Maternal diabetes,... ORPHA:280200
Lymphoproliferative Syndrome, X-Linked, 1
Burkitt lymphoma, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Lymphoma OMIM:308240
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Aicardi Syndrome
Malabsorption, Hiatus hernia, Hepatoblastoma, Cleft palate, Gastroesophageal reflux, Constipation... ORPHA:50
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Mednik Syndrome
Abnormal intestine morphology, Decreased circulating ceruloplasmin concentration, Decreased circu... ORPHA:171851
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Short stature, Tracheoesophageal fistula, Esophageal atresia, Submucous cleft h... OMIM:619227
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Duodenal atresia, Tracheoesophageal fistula, Growth delay, Esoph... OMIM:300514
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Duodenal ulcer OMIM:217090
Bannayan-Riley-Ruvalcaba syndrome
High palate, Lipoma, Supernumerary nipple, Intussusception, Hemangioma, Multiple lipomas, Hematoc... OMIM:153480
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Growth delay, Constipation, Macro... ORPHA:90674
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hodgkin lymphoma, Short stature, Type I diabetes mellitus, Del... OMIM:615952
Cowden Syndrome 5
Hydrocele testis, High palate, Breast carcinoma, Ovarian cyst, Furrowed tongue, Transitional cell... OMIM:615108
Leishmaniasis
Weight loss, Hypoalbuminemia ORPHA:507
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ke... OMIM:262190
Oligodontia-Colorectal Cancer Syndrome
Adenomatous colonic polyposis, Colon cancer, Fundic gland polyposis, Breast carcinoma OMIM:608615
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hypoglycemia, Dysphagia, Cryptorchidism, Intrauterine growth retardation OMIM:618958
Alg9-Cdg
Hypoplasia of the ovary, Gastroesophageal reflux, Diarrhea, Bifid uvula, Vomiting, Hypoplastic ni... ORPHA:79328
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Peptic ulcer, Hyperuri... ORPHA:90041
Cowden Syndrome 6
Hydrocele testis, High palate, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Furrow... OMIM:615109
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Megalocornea-Mental Retardation Syndrome
High palate, Short stature, Bifid uvula, Hypercholesterolemia, Dysphagia OMIM:249310
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia, Hypoalbuminemia, Bile duct proliferation, Hyperalaninemia OMIM:618329
Lysosomal Acid Lipase Deficiency
Failure to thrive, Steatorrhea, Cachexia, Diarrhea, Vomiting, Hypertriglyceridemia, Esophageal va... ORPHA:275761
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Colitis, Intrauterine growth retardation, Esophageal stenosis OMIM:615190
Mosaic Variegated Aneuploidy Syndrome 2
Severe intrauterine growth retardation, Duodenal atresia, Decreased response to growth hormone st... OMIM:614114
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Ele... ORPHA:90291
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Scleroderma
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Ele... ORPHA:801
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Fanconi Anemia, Complementation Group F
Failure to thrive, Duodenal atresia, Decreased response to growth hormone stimulation test, Short... OMIM:603467
Scedosporiosis
Abnormal jejunum morphology, Diabetes mellitus ORPHA:449280
Galloway-Mowat Syndrome 7
High palate, Short stature, Cleft palate, Hypercholesterolemia OMIM:618348
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage, Cavernous he... ORPHA:774
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Growth delay, Hyperlipidemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-... OMIM:248370
Intellectual Developmental Disorder, Autosomal Dominant 53
Duodenal atresia, Intestinal malrotation, Growth delay, Cryptorchidism, Gastrointestinal dysmotility OMIM:617798
Celiac Disease, Susceptibility To, 1
Failure to thrive, Hypocalcemia, Steatorrhea, Short stature, Diarrhea, Vomiting, Lymphoma, Stomat... OMIM:212750
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Intrauterine growth retardation, Gastroesophage... OMIM:270400
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Crypt... ORPHA:2470
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Type I diabetes mellitus, Celiac disease ORPHA:3143
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Failure to thrive, Decreased response to growth hor... ORPHA:470
Stromme Syndrome
Duodenal atresia, Cleft palate, Intestinal malrotation, Jejunal atresia, Stillbirth OMIM:243605
Visceral Myopathy 1
Constipation, Diarrhea, Vomiting, Dysphagia, Megaduodenum, Intestinal pseudo-obstruction, Microco... OMIM:155310
Cowden Syndrome 1
Hydrocele testis, High palate, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Furrow... OMIM:158350
Intellectual Developmental Disorder, Autosomal Dominant 35
Pyloric stenosis, Hypoglycemia, Intrauterine growth retardation, Chronic diarrhea OMIM:616355
Familial Multinodular Goiter
Sertoli cell neoplasm, Ovarian neoplasm, Thyroid carcinoma, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Liver Failure, Infantile, Transient
Vomiting, Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Gastroesophageal reflux, Hyposerinemia, Esophagitis ORPHA:79350
Avian Influenza
Elevated circulating C-reactive protein concentration, Diarrhea, Elevated circulating creatine ki... ORPHA:454836
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... OMIM:603553
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypocalcemia, Cleft palate, Hypoproteinemia, Protein-losing enteropathy, Pancreatic ... OMIM:235255
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Macroglossia OMIM:617303
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hypocalcemia, Hypoproteinemia, Protein-losing enteropathy, Pancreatic lymphangiectas... ORPHA:1655
Fryns Syndrome
High palate, Anal atresia, Ectopic anus, Duodenal atresia, Gastroesophageal reflux, Cleft palate,... ORPHA:2059
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Growth delay, Smooth tongue, Hypoalbuminemia, Squamous cell carcinoma of the skin ORPHA:79396
Morgagni-Stewart-Morel Syndrome
Obesity, Diabetes mellitus, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Multiple Endocrine Neoplasia Type 1
Melena, Pituitary growth hormone cell adenoma, Thymoma, Constipation, Intestinal carcinoid, Diarr... ORPHA:652
Leigh Syndrome With Nephrotic Syndrome
Episodic vomiting, Intrauterine growth retardation, Hypoalbuminemia ORPHA:255249
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Morphological abnormality of the gastrointestinal tract ORPHA:2847
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Small for gestational age, Increased serum pyruvate, Episodic vomiting, Elevated ... OMIM:615160
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Postnatal growth retardation OMIM:617219
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Pituitary adenoma, Adrenocorticotropic hormone deficiency,... ORPHA:199299
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypoalbuminemia ORPHA:656
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... ORPHA:158061
9Q31.1Q31.3 Microdeletion Syndrome
Short stature, Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Isolated Biliary Atresia
Failure to thrive, Severe failure to thrive, Small for gestational age, Conjugated hyperbilirubin... ORPHA:30391
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Failure to thrive, Short stature, Rhizomelia, Cryptorchidism, Meckel diverticulum OMIM:602613
Aicardi-Goutieres Syndrome 9
Failure to thrive, Weight loss, Intrauterine growth retardation, Hypoalbuminemia OMIM:619487
Marburg Hemorrhagic Fever
Bloody diarrhea, Odynophagia, Orchitis, Hypokalemia, Hyperammonemia, Elevated circulating creatin... ORPHA:99826
Cowden Syndrome
High palate, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gl... ORPHA:201
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatoblastoma, Cleft palate, Large for gestational age, Adren... ORPHA:116
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea, Hypoalbuminemia OMIM:614441
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Abnormal stomach morphology, Intussusception, Abnormal duodenum ... ORPHA:512
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Megalocornea-Intellectual Disability Syndrome
High palate, Short stature, Hypercholesterolemia ORPHA:2479
Feingold Syndrome Type 1
Anal atresia, Duodenal atresia, Short stature, Gastrointestinal atresia, Jejunal atresia, Esophag... ORPHA:391641
Hypoplasminogenemia
Abnormality of the ovary, Duodenal ulcer, Decreased level of plasminogen ORPHA:722
Mirage Syndrome
Decreased body weight, Gastroesophageal reflux, Short stature, Esophageal stricture, Hypoglycemia... OMIM:617053
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Peritonitis, Diarrhea, Elevated circulating creatine kinase concentration, Vomiting... ORPHA:36234
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Duodenal atresia, Cleft palate, Cryptorchidism, Intrauterine growth retardation OMIM:247200
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Nausea, Hypercholesterolemia, Hypopituitarism, Hyperglycemia ORPHA:90065
Cat Eye Syndrome
Anal atresia, Rectal fistula, Cleft palate, Short stature, Intestinal malrotation, Volvulus, Anal... OMIM:115470
Whim Syndrome
Papilloma, Cutaneous melanoma, Abnormality of the small intestine, Verrucae, Parotitis ORPHA:51636
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Hypoalbuminemia, Cachexia OMIM:610965
Distal Monosomy 12Q
Annular pancreas, Growth delay, Duodenal atresia, Pituitary adenoma, High, narrow palate, Short s... ORPHA:96149
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Duodenal atresia, Gastroesophageal reflux, Small for gestational age, Short st... ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Duodenal atresia, Gastroesophageal reflux, Small for gestational age, Birth le... ORPHA:464311
Immunodeficiency 59 And Hypoglycemia
High palate, Malabsorption, Short stature, Hypoglycemia, Recurrent aphthous stomatitis, Chronic d... OMIM:233600
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Storm Syndrome
Fat malabsorption OMIM:185069
Addison Disease
Hypoparathyroidism, Thymoma, Failure to thrive, Constipation, Decreased circulating cortisol leve... ORPHA:85138
Sanjad-Sakati Syndrome
Hypoparathyroidism, Severe intrauterine growth retardation, Hypocalcemia, Short stature, Congenit... ORPHA:2323
Shwachman-Diamond Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Hypoamylasemia, Decreased response to growt... ORPHA:811
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Hypoalbuminemia, Macroglossia ORPHA:505248
Feingold Syndrome 1
High palate, Annular pancreas, Duodenal atresia, Tracheoesophageal fistula, Esophageal atresia OMIM:164280
Refractory Anemia With Excess Blasts
Single lineage myelodysplasia, Multiple lineage myelodysplasia, Abnormal circulating albumin conc... ORPHA:86839
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... ORPHA:210122
Dextrocardia
Pancreatic hypoplasia, Neuroblastoma, Intestinal malrotation, Meckel diverticulum ORPHA:1666
Shigellosis
Paralytic ileus, Acute colitis, Bloody mucoid diarrhea, Bloody diarrhea, Peritonitis, Vomiting, H... ORPHA:810
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Cholesterol gallstones, Hyperchole... ORPHA:209902
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Decreased body weight, Cleft palate, Short stature, Anal stenosis, Duo... OMIM:617063
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Bloody diarrhea, Intestinal atresia, Intestinal malrotation, Hyp... ORPHA:436252
Mosaic Trisomy 16
Small for gestational age, Abnormality of the gastrointestinal tract, Maternal diabetes, Anterior... ORPHA:1708
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Constipation... ORPHA:273
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Failure to thrive, Gastroesophageal reflux, Hyperbi... OMIM:619534
Jacobsen Syndrome
Annular pancreas, Ectopic anus, Duodenal atresia, Constipation, Short stature, Intestinal malrota... ORPHA:2308
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Failure to thrive, Insulin resistance, Small for gestational age, Diarrhea, ... OMIM:606721
Glycogen Storage Disease Ia
Growth delay, Hyperlipidemia, Short stature, Hepatocellular carcinoma, Hypoglycemia, Intermittent... OMIM:232200
Oculocerebrorenal Syndrome Of Lowe
Failure to thrive, Malabsorption, Narrow palate, Gastroesophageal reflux, Hypophosphatemia, Hypok... ORPHA:534
Diets-Jongmans Syndrome
Cryptorchidism, Duodenal atresia, Short stature OMIM:618846
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Hypoglycemia, Decreased response to growth hormone stimulation test, Frequent G... OMIM:615577
Medulloblastoma
Adenomatous colonic polyposis, Medulloblastoma, Neuroblastoma, Spinal cord tumor, Neoplasm of the... ORPHA:616
Glycogen Storage Disease Ib
Hyperlipidemia, Short stature, Pancreatic fibrosis, Hepatocellular carcinoma, Inflammation of the... OMIM:232220
Tarp Syndrome
Failure to thrive, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Cryp... ORPHA:2886
Fryns Syndrome
Anal atresia, Duodenal atresia, Stillbirth, Cleft palate, Intestinal malrotation, Ectopic pancrea... OMIM:229850
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:151660
Glycogen Storage Disease Ixc
Growth delay, Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia, Bile duct proliferation, ... OMIM:613027
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hypokalemi... ORPHA:508
Holoprosencephaly 13, X-Linked
Duodenal atresia, Gastroesophageal reflux, Median cleft palate, Cleft palate, Submucous cleft har... OMIM:301043
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Elevated serum 11-deoxycortisol, Vomiting, Increased circulating renin level, ... ORPHA:556037
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Annular pancreas, Duodenal atresia, Gastroesophageal reflux, Short stature, Furrowed... OMIM:616975
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intestine OMIM:200995
Tyrosinemia, Type I
Melena, Paralytic ileus, Hypophosphatemic rickets, Failure to thrive, Growth delay, Elevated alph... OMIM:276700
Autosomal Recessive Polycystic Kidney Disease
Growth delay, Cholangiocarcinoma, Hepatoblastoma, Esophageal varix, Fat malabsorption, Protein-lo... ORPHA:731
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Duodenal atresia, Severe short stature, Severe failure to thrive, Cryptorchidism, Intrauterine gr... ORPHA:468631
Focal Dermal Hypoplasia
Giant cell tumor of bone, Papilloma, Duodenal atresia, Gastroesophageal reflux ORPHA:2092
Hyperlipoproteinemia, Type I
Hyperlipidemia, Vomiting, Lactescent serum, Increased circulating chylomicron concentration, Naus... OMIM:238600
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoes... OMIM:265380
Iniencephaly
Anal atresia, Duodenal atresia, Rhizomelia ORPHA:63259
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Decreased testicular size, Laryngeal carcinoma, Hypercholesterolemia, Carci... OMIM:610644
Zygomycosis
Melena, Colitis, Gastritis, Unusual gastrointestinal infection, Ileitis, Enterocolitis, Hematemes... ORPHA:73263
Alagille Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Hepatocellular carcinoma, Papillary thyroid... OMIM:118450
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Musculocontractural Ehlers-Danlos Syndrome
High palate, Constipation, Cleft palate, Malrotation of small bowel, Cryptorchidism ORPHA:2953
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Hematoc... OMIM:175050
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Increased circulating ferritin concentration, Exocrine pancr... OMIM:619991
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Intrauterine growth retardation, Small bowel diverticula ORPHA:90349
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Chronic diarrhea, Decreased circulating cop... OMIM:300972
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Constipation, Short stature, Bicarbonaturia, Hypercholesterolemia, Elevated ma... OMIM:309000
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Townes-Brocks Syndrome 1
Anal atresia, Duodenal atresia, Gastroesophageal reflux, Small for gestational age, Tracheoesopha... OMIM:107480
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Hiatus hernia, Constipation, Cleft palate, Intestinal malrotation, Abnormal duodenum... OMIM:601776
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Duodenal atresia, Intrauterine growth retardation OMIM:270100
Fanconi Anemia
High palate, Anal atresia, Neoplasm, Absent testis, Meckel diverticulum, Cleft palate, Short stat... ORPHA:84
Bardet-Biedl Syndrome 20
Obesity, Bilateral cryptorchidism, Hypercholesterolemia OMIM:619471
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Breast carcinoma, Decreased circulating cortisol level, Endometrial carcinoma,... ORPHA:90790
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Hypertriglyceridemia, Basal cell carcinoma, Hypercholesterolemia,... ORPHA:363618
Trisomy 8P
Annular pancreas, Constipation, Neuroblastoma, Cleft palate, Malrotation of small bowel, Bifid uv... ORPHA:264450
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Anal atresia, Duodenal atresia, Failure to thrive OMIM:306955
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Peritonitis, Ileal atresia OMIM:619351
Charge Syndrome
Hypoparathyroidism, Anal atresia, Duodenal atresia, Hypocalcemia, Decreased response to growth ho... OMIM:214800
Fraser Syndrome 1
Cryptorchidism, Abnormality of the small intestine, Cleft palate, Abnormality of the anus OMIM:219000
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Vomiting, Hypoglycemia, Naus... OMIM:229600
Basal Cell Nevus Syndrome
Medulloblastoma, Cleft palate, Odontogenic keratocysts of the jaw, Rhabdomyoma, Basal cell carcin... OMIM:109400
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Vomiting, Intrauterine growth retardation, Small bowel diverticula ORPHA:90348
Glycogen Storage Disease Ic
Hyperlipidemia, Hepatoblastoma, Hepatocellular carcinoma, Hypoglycemia, Hyperuricemia, Xanthelasm... OMIM:232240
Down Syndrome
Anal atresia, Macroglossia, Short stature, Myeloproliferative disorder, Acute megakaryocytic leuk... OMIM:190685
Coffin-Siris Syndrome 1
High palate, Intrauterine growth retardation, Intussusception, Cleft palate, Intestinal malrotati... OMIM:135900
Wolf-Hirschhorn Syndrome
Failure to thrive, Gastroesophageal reflux, Cleft palate, Small for gestational age, Severe postn... OMIM:194190
Pmm2-Cdg
High palate, Failure to thrive, Elevated circulating growth hormone concentration, Hyperinsulinem... ORPHA:79318
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Short stature, Facial capillary hemangioma, Pancreatic cysts, Meckel diverticulum OMIM:274000
Tropical Endomyocardial Fibrosis
Cachexia, Hypoalbuminemia ORPHA:75565
Viss Syndrome
High palate, Chronic gastritis, Failure to thrive, Gastroesophageal reflux, High, narrow palate, ... OMIM:619472
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Simpson-Golabi-Behmel Syndrome, Type 1
Anal atresia, Narrow palate, Hepatoblastoma, Cleft palate, Supernumerary nipple, Macroglossia, In... OMIM:312870
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

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 Ap1m2

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 Ap1m2.

No publications found that use IMPC mice or data for Ap1m2.

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MGI Allele Allele Type Produced
Ap1m2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ap1m2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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