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Gene: Ap1m2 MGI:1336974

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

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 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
Villous atrophy, Diarrhea, Hyperlipidemia, Protein-losing enteropathy, Vomiting, Hypoalbuminemia,... OMIM:615863
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Decreased... OMIM:246700
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... OMIM:613217
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Villous atrophy, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Lactose Intolerance, Adult Type
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
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
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Di... ORPHA:103910
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Decreased circulating cortisol level, Malabsorption, Reactive hypoglycemia, Diar... OMIM:600955
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... OMIM:619445
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Short stature, Elevated circulating C-reactive protein concentration, Increased ... OMIM:616050
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur... OMIM:613291
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Desmoid Disease, Hereditary
Colorectal polyposis, Colon cancer, Desmoid tumors OMIM:135290
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Familial Adenomatous Polyposis 4
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia, Malabsorption ORPHA:1954
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Hypoalbuminemia, Steatorrhea, Hy... OMIM:602579
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Blo... OMIM:614602
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2070
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity ORPHA:88643
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Hyp... ORPHA:79319
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Short stature, Failure to th... ORPHA:388
Cholestasis, Progressive Familial Intrahepatic, 10
Short stature, Conjugated hyperbilirubinemia, Acholic stools, Hypoalbuminemia, Increased serum bi... OMIM:619868
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea OMIM:614328
Refractory Celiac Disease
Villous atrophy, Malabsorption, Chronic diarrhea, Hypophosphatemia, Weight loss, Protein-losing e... ORPHA:398063
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Alg6-Cdg
Decreased LDL cholesterol concentration, Macroglossia, Protein-losing enteropathy, Hypoalbuminemi... ORPHA:79320
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... ORPHA:2494
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Hypoalbu... ORPHA:79327
Jejunal Atresia
Jejunal atresia OMIM:243600
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... ORPHA:90362
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma... ORPHA:247806
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Postnatal growth retardation, H... OMIM:232700
Alpha-Heavy Chain Disease
Growth delay, Abnormal small intestine morphology, Hypocalcemia, Malabsorption ORPHA:100025
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol... ORPHA:79665
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Colon cancer OMIM:619101
Polyposis, Intestinal, With Multiple Exostoses
Intestinal polyposis OMIM:175450
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Diarrhea, Hyperinsulinemia, Abnormal intestine morphology, Vomiting, Failure to thrive OMIM:606528
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Diarrhea, Elevated circulating creatinine concentration, Protein-losing enteropat... OMIM:608104
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Hypoka... OMIM:174900
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Familial Adenomatous Polyposis 1
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... OMIM:175100
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... OMIM:615237
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Vomiting, Intraute... ORPHA:1201
Nephrotic Syndrome, Type 1
Small for gestational age, Pyloric stenosis, Hyperlipidemia, Growth delay, Gastroesophageal reflu... OMIM:256300
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Familial Adenomatous Polyposis
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Pituitary aden... ORPHA:733
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Growth delay, Vomiting OMIM:619510
Diarrhea 13
Secretory diarrhea, Recurrent hypoglycemia, Hypoalbuminemia, Vomiting, Failure to thrive OMIM:620357
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... ORPHA:261584
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Di... OMIM:615710
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Malabsorption, Diarrhea, Furrowed tongue, Hamartomatous polyposis... ORPHA:2930
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Hypercholesterolemia, Small for gestational age, Maturity-onset diabetes of the yo... ORPHA:96184
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Diarrhea, Hypertriglyceridemia, Esophageal varix ORPHA:75234
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Diarrhea, Growth delay, Abnormal intestine morphology, Vom... OMIM:226300
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... ORPHA:873
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive OMIM:209920
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... OMIM:619377
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Ileus, Type I diabetes mellitus, Failure to thrive OMIM:304790
Galloway-Mowat Syndrome 6
Short stature, Decreased response to growth hormone stimulation test, Growth delay, High palate, ... OMIM:618347
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Feingold Syndrome Type 2
Jejunal atresia, Short stature ORPHA:391646
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Growth dela... OMIM:620211
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Rectal prolapse, Adeno... ORPHA:79076
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity... ORPHA:254531
Netherton Syndrome
Villous atrophy, Failure to thrive, Recurrent infection of the gastrointestinal tract, Intestinal... OMIM:256500
Feingold Syndrome 2
Postnatal growth retardation, Short stature, Intestinal atresia OMIM:614326
Immunodeficiency 31C
Villous atrophy, Diabetes mellitus, Short stature, Diarrhea, Weight loss, Gastrointestinal eosino... OMIM:614162
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia ORPHA:210548
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis OMIM:615083
Pancreatic Colipase Deficiency
Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreat... ORPHA:309108
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Conjugated hyperbilirubinemia, Diarrhea, Hepatocellular carcinoma, Fat malabsorpti... OMIM:601847
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Hypomagnesemia, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126840
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Esophageal stenosis, Anal fissure, Abnormal circulating selenium concentration... ORPHA:89842
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Eosinophilic infiltration of the esophagus, Malabsorption, Growth delay, Hypoa... OMIM:615508
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Temple Syndrome
Hypertriglyceridemia, Short stature, Hypercholesterolemia, Small for gestational age, Maturity-on... OMIM:616222
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... ORPHA:157794
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer OMIM:246470
Short Stature Due To Ghsr Deficiency
Short stature, Abnormality of body weight, Hypoglycemia, Growth delay, Vomiting, Delayed puberty,... ORPHA:314811
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Growth delay, Inflammation of the large in... OMIM:614700
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Diarrhea, Hy... ORPHA:247585
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Small for gestational age, Biliary hyperplasia, Conjugated hyperbilirubinemia, A... ORPHA:567983
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Gastrointestinal dysmotility, Diarrhea, Protracted diarrhea, Bloody diarr... ORPHA:67
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Hematochezia, Protein-los... OMIM:618183
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... OMIM:601346
Chylomicron Retention Disease
Hypertriglyceridemia, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsorption, Failure t... ORPHA:71
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Villous atrophy, Chronic diarrhea, Failure to thrive in infancy OMIM:606367
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Hypoglyc... ORPHA:264580
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Pancreatic fibrosis, Small for gestational age, Malabsorption, Chronic diarrhea,... OMIM:557000
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Hypoalbuminemia, Gastric varix, Hepatocellular car... ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Failure ... OMIM:607765
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... OMIM:300048
Cholestasis, Progressive Familial Intrahepatic, 1
Short stature, Conjugated hyperbilirubinemia, Diarrhea, Cholelithiasis, Fat malabsorption, Failur... OMIM:211600
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Diarrhea, Vomiting, Hypoalbuminemia, Steatorrhea, Failure to thrive, Hypocholest... OMIM:212065
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Ketotic ... ORPHA:79240
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... ORPHA:144
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Trichohepatoenteric Syndrome 1
Villous atrophy, Short stature, Small for gestational age, Increased serum iron, Hypoalbuminemia,... OMIM:222470
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Postnatal growth retardation, Short stature, Delayed puberty OMIM:618985
Cog8-Cdg
Failure to thrive, Protein-losing enteropathy, Hypoglycemia ORPHA:95428
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Esophageal varix, Hypoalbuminemia ORPHA:367
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature, Duodenal atresia ORPHA:3004
Birt-Hogg-Dube Syndrome 1
Large intestinal polyposis, Colon cancer OMIM:135150
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy, Growth delay, Intermittent diarrhea, Recurren... ORPHA:263501
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Hypomagnesemia, Ileus, Secretor... ORPHA:37042
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia ORPHA:3405
Duodenal Atresia
Duodenal atresia OMIM:223400
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diarrhea, Esophageal varix, Increa... OMIM:278000
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Elevated circulating growth hormone concentration, Pit... OMIM:174800
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cap Polyposis
Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Colorectal polyposis, Constipation ORPHA:160148
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Postnata... ORPHA:96180
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Constipation OMIM:301033
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Syndromic Diarrhea
Villous atrophy, Gastritis, Short stature, Small for gestational age, Bloody diarrhea, Colitis, H... ORPHA:84064
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Fanconi Anemia, Complementation Group W
Growth delay, Intrauterine growth retardation, Decreased response to growth hormone stimulation t... OMIM:617784
Nephrotic Syndrome, Type 11
Hypercholesterolemia, High palate, Hypoalbuminemia, Cleft palate OMIM:616730
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Primary Biliary Cholangitis
Celiac disease, Conjugated hyperbilirubinemia, Gastrointestinal inflammation, Hypoalbuminemia, He... ORPHA:186
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Hypertriglyceridemia, Elevated ci... OMIM:619573
Abetalipoproteinemia
Fat malabsorption, Abetalipoproteinemia OMIM:200100
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Chronic diarrhea, Decreased LDL chole... ORPHA:14
Congenital Contractural Arachnodactyly
Intestinal malrotation, Tracheoesophageal fistula, High palate, Slender build, Duodenal atresia ORPHA:115
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Elevated circulating C-reactive protein concentration... OMIM:619381
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Short stature, Diarrhea, Esophageal carcinoma, Enterocolitis, Growth delay, Abno... ORPHA:391487
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Smith-Magenis Syndrome
Hypertriglyceridemia, Short stature, Velopharyngeal insufficiency, Increased body weight, Constip... OMIM:182290
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Decreased serum bile acid concentration, Hyperbilirubinemia, Fat malabsorption, Fai... OMIM:214950
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Large for gestational age, Cryptorchidism, Intestinal polyp, Neonatal hypogl... ORPHA:457485
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing... OMIM:235510
Rajab Interstitial Lung Disease With Brain Calcifications 1
Failure to thrive, Short stature, Intestinal malrotation, Small for gestational age, Hypoglycemia... OMIM:613658
Juvenile Nasopharyngeal Angiofibroma
Juvenile colonic polyposis ORPHA:289596
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Esophageal v... OMIM:619662
Duodenal Atresia
Annular pancreas, Duodenal atresia ORPHA:1203
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Colitis, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Small for gestational age, Hypoglycemia, Postnatal growth retardation, High palate... ORPHA:231140
Alg12-Cdg
Hyponatremia, Intestinal malrotation, Cryptorchidism, Recurrent hypoglycemia, Hypoalbuminemia, Ga... ORPHA:79324
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... ORPHA:79303
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... ORPHA:2457
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Megaduodenum OMIM:611376
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Short stature, Insulin resistance, Hypocalcemia, Hyperch... OMIM:612526
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:613244
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypertriglyceridemia, Short stature, Hypoalbuminemia OMIM:619013
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries... ORPHA:528
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Growth delay, Hyperuricemia, Hypercholesterolemia OMIM:306000
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Increased circulating NT-... ORPHA:85443
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hypoglycemia, Postnatal growth retardation, Conjugated hyperbilirubine... OMIM:617093
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hypoglycemia, Hyperammonemia ORPHA:664
Immunodeficiency 27A
Diarrhea, Hypoalbuminemia, Weight loss OMIM:209950
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Short stature, Hypoglycemia, Abnormal large intestine morphology, Cachexia,... ORPHA:109
Oculoskeletodental Syndrome
Short stature, Hypercalcemia, Small for gestational age, Cryptorchidism, Macroglossia, Protein-lo... OMIM:618440
Galloway-Mowat Syndrome 3
Short stature, Hiatus hernia, High palate, Hypoalbuminemia, Intrauterine growth retardation, Fail... OMIM:617729
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Short stature, Ketotic hypoglycemia, Hyperlipidemia, G... ORPHA:2089
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypo... OMIM:619055
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Growth delay, Delayed pube... ORPHA:369
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Growth delay, Hypoalbuminemia, Hypercholesterolemia, Abnormal ... ORPHA:567548
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Laron Syndrome
Severe short stature, Hypoglycemia, Truncal obesity, Delayed puberty, Hypercholesterolemia ORPHA:633
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased circulating 12-HETE, Gastric ulcer, Esophageal ulceration, Decreased se... OMIM:618372
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Feingold Syndrome
Esophageal atresia, Annular pancreas, Short stature, Duodenal atresia ORPHA:1305
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:913
Wolcott-Rallison Syndrome
Hyponatremia, Short stature, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Growth... ORPHA:1667
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Smith-Magenis Syndrome
Hypertriglyceridemia, Short stature, Failure to thrive in infancy, Obesity, Cleft palate, Constip... ORPHA:819
Galactokinase Deficiency
Small for gestational age, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasm... ORPHA:79237
Mednik Syndrome
Jejunal atresia, Diarrhea, Growth delay, Increased circulating very long-chain fatty acid concent... OMIM:609313
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... ORPHA:247353
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Ulcerative colitis, Weight loss, Hy... ORPHA:171
Esophageal Atresia
Barrett esophagus, Small for gestational age, Intestinal malrotation, Failure to thrive in infanc... ORPHA:1199
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Hypercholesterolemia, Overweight, Obesity, Neoplasm of the liver, Hepatocellul... ORPHA:69663
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Elevated circulating creatine kinase concentration, Ileal atresia OMIM:615351
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sh... OMIM:242150
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Bile duct proliferation, Hyperbilirubinemia ORPHA:79302
Serkal Syndrome
Growth delay, Malrotation of small bowel ORPHA:139466
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Reni Syndrome
Cryptorchidism, Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia OMIM:617575
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Growth delay, Vomiting, Hypoa... OMIM:251880
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Short stature, Hypoglycemia, Diarrhea, Hyperlipidemia, Hepatocellular adeno... ORPHA:79259
Wilson Disease
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hepatocellul... OMIM:277900
Galloway-Mowat Syndrome 1
Short stature, Small for gestational age, Hiatus hernia, High palate, Hypoalbuminemia, Intrauteri... OMIM:251300
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Intrauterine growth... OMIM:616395
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis, Failure to thrive, Breast aplasia ORPHA:276413
Mednik Syndrome
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Ab... ORPHA:171851
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duoden... OMIM:619227
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Overweight, Obesity, Hyperproteinemia, Inc... ORPHA:90041
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Duodenal ulcer OMIM:217090
Fanconi Anemia, Complementation Group B
Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth retardation, Duo... OMIM:300514
Cowden Syndrome 7
Intestinal polyposis, Ductal carcinoma in situ, Goiter OMIM:616858
Alg9-Cdg
Villous atrophy, Rhizomelia, Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Vomiting... ORPHA:79328
Turcot Syndrome With Polyposis
Intestinal polyposis, Diarrhea, Adenomatous colonic polyposis, Pituitary adenoma, Desmoid tumors,... ORPHA:99818
Microform Holoprosencephaly
Short stature, Maternal diabetes, Cleft palate, Intrauterine growth retardation, Panhypopituitari... ORPHA:280200
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis OMIM:612591
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis OMIM:615190
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Short stature, Cleft palate, Growth delay, Colon cancer, Stomach cancer, In... ORPHA:1052
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Intrauterine growth retardation, Hypoalbuminemia OMIM:617021
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Diarrhea, Esophageal varix, Hyperkalemia, Weight lo... ORPHA:275761
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Hype... OMIM:262190
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Hypoalbuminemia, Hyperalaninemia, Failure to thrive OMIM:618329
Leishmaniasis
Hypoalbuminemia, Weight loss ORPHA:507
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Neonatal hyperbilirubinemia, Pituitary hypothyroidism, Growth delay, Macroglos... ORPHA:90674
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Small for gesta... OMIM:614114
Aicardi Syndrome
Intestinal polyposis, Hiatus hernia, Malabsorption, Cleft palate, Gastroesophageal reflux, Consti... ORPHA:50
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Neuhauser Syndrome
Short stature, High palate, Dysphagia, Hypercholesterolemia, Bifid uvula OMIM:249310
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Scedosporiosis
Diabetes mellitus, Abnormal jejunum morphology ORPHA:449280
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Postnatal growth retardation, Hyperlipidemia, Insulin-res... OMIM:248370
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Short stature, High palate, Cleft palate OMIM:618348
Celiac Disease, Susceptibility To, 1
Short stature, Celiac disease, Postnatal growth retardation, Diarrhea, Weight loss, Vomiting, Rec... OMIM:212750
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Growth delay, Duodenal atresia OMIM:617798
Immunodeficiency 32B
Failure to thrive, Hypoalbuminemia OMIM:226990
Familial Adenomatous Polyposis 3
Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:616415
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Intrauterin... OMIM:603467
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatou... OMIM:175200
Autoimmune Polyendocrinopathy Type 2
Celiac disease, Hypoparathyroidism, Type I diabetes mellitus ORPHA:3143
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Intrauterine growth retard... ORPHA:2470
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer OMIM:608615
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Short stature, Pyloric stenosis, Gastrointestinal ... OMIM:270400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, High palate, Protein-l... ORPHA:1655
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Cleft palate, Stillbirth, Duodenal atresia OMIM:243605
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Vomiting, Constipa... OMIM:155310
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia, Obesity ORPHA:77296
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea, Hypoglycemia, Intrauterine growth retardation OMIM:616355
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Gastroesophageal reflux, Esophagitis, Hyposerinemia ORPHA:79350
Isolated Biliary Atresia
Small for gestational age, Atretic gallbladder, Conjugated hyperbilirubinemia, Xanthelasma, Achol... ORPHA:30391
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Liver Failure, Infantile, Transient
Vomiting, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone co... OMIM:131100
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology ORPHA:252164
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemi... OMIM:617156
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, High palate, Protein-losing enteropath... OMIM:235255
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Cholelithiasis, Esophageal varix, Gastrointestinal hemorrhage ORPHA:774
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Ectopic anus, Gastro... ORPHA:2059
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Fanconi-Bickel Syndrome
Hypouricemia, Malabsorption, Postnatal growth retardation, Hypophosphatemia, Glycosuria, Hypokale... OMIM:227810
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Short stature, Type II diabetes mellitus ORPHA:401923
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Dysphagia OMIM:254900
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Hypoalbuminemia OMIM:617303
Mosaic Variegated Aneuploidy Syndrome 1
Short stature, Small for gestational age, Postnatal growth retardation, Cryptorchidism, Cleft pal... OMIM:257300
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Ovarian cyst, C... ORPHA:454840
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Recurrent hypoglycemia... ORPHA:2126
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypoalbuminemia ORPHA:656
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Growth delay, Failure to thrive, Smooth tongue, Hypoalbuminemia ORPHA:79396
Tarp Syndrome
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Intra... OMIM:311900
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Hypoglycemia, Elevated circulating creatine kinase con... ORPHA:99826
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Failure to thrive, Hypoalbuminemia, Weight loss OMIM:619487
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, High palate, Short stature ORPHA:2479
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Nausea ORPHA:90065
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... ORPHA:512
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea, Hypoalbuminemia OMIM:614441
Feingold Syndrome Type 1
Jejunal atresia, Short stature, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duode... ORPHA:391641
Hypoplasminogenemia
Decreased level of plasminogen, Duodenal ulcer, Abnormality of the ovary ORPHA:722
Cat Eye Syndrome
Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palat... OMIM:115470
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Diarrhea, Peritonitis, Elevated circulating c... ORPHA:36234
Tumor Predisposition Syndrome 2
Ductal carcinoma in situ, Adenomatous colonic polyposis, Colon cancer, Juvenile type ovarian gran... OMIM:619975
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Hypoalbuminemia, Cachexia OMIM:610965
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Cleft palate, Intrauterine growth retardation, Failure to thrive, Duodenal atresia OMIM:247200
Mirage Syndrome
Hyponatremia, Short stature, Hypoglycemia, Cryptorchidism, Esophageal stricture, Chronic diarrhea... OMIM:617053
Dyrk1A-Related Intellectual Disability Syndrome
Short stature, Anterior pituitary hypoplasia, Small for gestational age, Pyloric stenosis, Crypto... ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Cryptorchidism, Birth length less than 3rd percentile, Posterior pitui... ORPHA:464311
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, Ovarian cyst, Hydrocele testis, Hi... OMIM:615108
Distal Deletion 12Q
Diabetes mellitus, Unilateral cryptorchidism, Short stature, Failure to thrive in infancy, Maturi... ORPHA:96149
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Annular pancreas, Tracheoesoph... ORPHA:210122
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Immunodeficiency 59 And Hypoglycemia
Short stature, Hypoglycemia, Malabsorption, Chronic diarrhea, High palate, Recurrent aphthous sto... OMIM:233600
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Small for gestational age, Maternal diabetes, Anterior... ORPHA:1708
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Intestinal perforation, Peritonitis, Ab... ORPHA:810
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Hypoalbuminemia, Recurrent gastroenteritis ORPHA:505248
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, Ovarian cyst, Hydrocele testis, Hi... OMIM:615109
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Bloody diarrhea, Rectal... ORPHA:436252
Addison Disease
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur... ORPHA:85138
Dextrocardia
Pancreatic hypoplasia, Meckel diverticulum, Intestinal malrotation ORPHA:1666
Beckwith-Wiedemann Syndrome
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Large for gestational age, Cr... ORPHA:116
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Large for gestational a... OMIM:229850
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa... ORPHA:412
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Hypopituitarism, Failure to thrive, Short stature, Dec... ORPHA:811
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-Ellison synd... ORPHA:652
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Glycogen Storage Disease Ia
Short stature, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Growth delay, Xanthelasma,... OMIM:232200
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Cholesterol gallstones, H... ORPHA:209902
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Short stature, Hypoammonemia, Malabsorption, Cryptorchidism, N... ORPHA:534
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Impaired glucose tolerance, Diarrhea, Insulin re... OMIM:606721
Jacobsen Syndrome
Short stature, Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Abnormality of the anus,... ORPHA:2308
Tarp Syndrome
Failure to thrive, Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Intr... ORPHA:2886
Glycogen Storage Disease Ib
Pancreatic fibrosis, Short stature, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Xanth... OMIM:232220
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Short stature, Decreased body weight OMIM:605822
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Steatorrhea,... OMIM:616263
Diets-Jongmans Syndrome
Cryptorchidism, Short stature, Duodenal atresia OMIM:618846
Biliary, Renal, Neurologic, And Skeletal Syndrome
Short stature, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulatin... OMIM:619534
Feingold Syndrome 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... OMIM:164280
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Growth delay, Bile duct prolife... OMIM:613027
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprote... OMIM:276700
Steinert Myotonic Dystrophy
Diabetes mellitus, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulatio... ORPHA:273
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, Ovarian cyst, Hydrocele testis, Hi... OMIM:158350
Leprechaunism
Enlarged ovaries, Postnatal growth retardation, Rectal prolapse, Insulin resistance, Hyperinsulin... ORPHA:508
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the rectum, Colorect... ORPHA:524
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... OMIM:301043
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis OMIM:200995
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Short stature, Cryptorchidism, Furrowed tongue, Gastroesophageal reflux, High palate, Intrauterin... OMIM:616975
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hyponatremia, Biliary hyperplasia, Pancreatic cy... 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
Severe short stature, Cryptorchidism, Severe failure to thrive, Intrauterine growth retardation, ... ORPHA:468631
Meier-Gorlin Syndrome 7
Anal stenosis, Short stature, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed ... OMIM:617063
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hype... OMIM:238600
Perlman Syndrome
Distal ileal atresia, Hypoglycemia, Large for gestational age, Cryptorchidism, Volvulus OMIM:267000
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Glycogen Storage Disease Ic
Stomatitis, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Xanthelasma, Inflammation of ... OMIM:232240
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Neonatal dea... OMIM:265380
Iniencephaly
Rhizomelia, Anal atresia, Duodenal atresia ORPHA:63259
Focal Dermal Hypoplasia
Gastroesophageal reflux, Duodenal atresia ORPHA:2092
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipation, High palate ORPHA:2953
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Adenocarcinoma of the small intestine, Adenocarcinoma of the colon OMIM:276300
Alagille Syndrome 1
Hypertriglyceridemia, Hepatocellular carcinoma, Hypercholesterolemia, Failure to thrive, Exocrine... OMIM:118450
Zygomycosis
Gastrointestinal hemorrhage, Diabetes mellitus, Gastritis, Hematemesis, Diarrhea, Peritonitis, En... ORPHA:73263
Lowe Oculocerebrorenal Syndrome
Short stature, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-... OMIM:309000
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Familial Multinodular Goiter
Multinodular goiter, Ovarian neoplasm, Colorectal polyposis, Testicular seminoma, Sertoli cell ne... ORPHA:276399
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Vomiting, Hypocalcemia, Eleva... OMIM:619991
Medulloblastoma
Adenomatous colonic polyposis ORPHA:616
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Immunodeficiency 47
Decreased circulating copper concentration, Chronic diarrhea, Hypercholesterolemia, Failure to th... OMIM:300972
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size OMIM:610644
Heterotaxy, Visceral, 5, Autosomal
Intrauterine growth retardation, Intestinal malrotation, Duodenal atresia OMIM:270100
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Failure to thrive, Anal atresia, Duodenal atresia OMIM:306955
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Gastrointestinal carc... OMIM:175050
Cowden Syndrome
Short stature, Enlarged polycystic ovaries, Furrowed tongue, Hamartomatous polyposis, Macroglossi... ORPHA:201
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Constipation, A... OMIM:601776
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Intrauterine growth retardation, Severe short stature, Small bowel diverticula ORPHA:90349
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Small for gestational age, Cryptorchidism, Tracheoesophagea... OMIM:107480
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Hypercholesterolemia, Obesity OMIM:619471
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipation, Aplasia/Hypoplasia of the... ORPHA:264450
Fanconi Anemia
Aganglionic megacolon, Short stature, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Tracheoeso... ORPHA:84
Fraser Syndrome 1
Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Charge Syndrome
Hypoparathyroidism, Anal stenosis, Decreased response to growth hormone stimulation test, Postnat... OMIM:214800
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hypoglycemia, Bicarbonaturia, Glycosuria, Vomiting, Hyperuricemia, H... OMIM:229600
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Intrauterine growth retardation, Vomiting, Small bowel diverticula ORPHA:90348
Wolf-Hirschhorn Syndrome
Short stature, Small for gestational age, Cryptorchidism, Malrotation of small bowel, Cleft palat... OMIM:194190
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Short stature, Postnatal growth retardation, Cryptorchidi... OMIM:135900
Down Syndrome
Aganglionic megacolon, Short stature, Protruding tongue, Duodenal stenosis, Macroglossia, Anal at... OMIM:190685
Pmm2-Cdg
Elevated circulating growth hormone concentration, Reduced thyroxin-binding globulin, Insulin res... ORPHA:79318
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Meckel diverticulum, Short stature, Cleft palate OMIM:274000
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Cachexia ORPHA:75565
Genitopatellar Syndrome
Anal stenosis, Cryptorchidism, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Ana... OMIM:606170
Viss Syndrome
Chronic gastritis, Failure to thrive, Duodenitis, Intestinal malrotation, Cleft soft palate, Subm... OMIM:619472
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Supernumerary nipple, Cryptorchidism, C... OMIM:312870
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia 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.

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
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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