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Gene: Mex3a MGI:1919890

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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:
mex3 RNA binding family member A
Synonyms:
Rkhd4,  2700083E18Rik

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 Mex3a 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 Mex3a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Dehydration, Protracted diarrhea, Growth delay, Abnormal intestine morphology OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... OMIM:613217
Diarrhea 9
Diarrhea, Failure to thrive, Villous atrophy OMIM:618168
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Dehydration,... OMIM:615237
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Failure to thrive OMIM:615863
Lactose Intolerance, Adult Type
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Diarrhea, Dehydration, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Chronic Hiccup
Weight loss, Dehydration, Depression ORPHA:396
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Reticular Dysgenesis
Malabsorption, Diarrhea, Dehydration, Weight loss, Failure to thrive ORPHA:33355
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting, Dehydration OMIM:610370
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Central Diabetes Insipidus
Diarrhea, Dehydration, Weight loss, Depression, Lethargy, Failure to thrive ORPHA:178029
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... ORPHA:2198
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... OMIM:619445
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting, Dehydration OMIM:614265
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Dehydration OMIM:601410
Chylomicron Retention Disease
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, Vomiting, Stea... OMIM:246700
Glucose/Galactose Malabsorption
Failure to thrive, Chronic diarrhea, Hypertonic dehydration, Malabsorption OMIM:606824
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Vomiting ORPHA:622
Hereditary Central Diabetes Insipidus
Diarrhea, Weight loss, Growth delay, Vomiting, Lethargy ORPHA:30925
Enteric Anendocrinosis
Diarrhea, Vomiting, Dehydration, Malabsorption ORPHA:83620
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... OMIM:614602
Hyperlysinuria With Hyperammonemia
Growth delay, Lethargy, Malabsorption OMIM:238750
Intestinal Dysmotility Syndrome
Projectile vomiting, Polyhydramnios, Diarrhea, Weight loss, Decreased intestinal transit time, Hi... OMIM:620045
Hypercalcemia, Infantile, 1
Dehydration, Weight loss, Vomiting, Lethargy, Failure to thrive OMIM:143880
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, Inflammation of ... OMIM:266600
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur... OMIM:613291
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Edema, Pericardial effusion, Chronic diarrhea, ... ORPHA:90362
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Failure to thrive, Dehydration ORPHA:28
Transient Neonatal Diabetes Mellitus
Small for gestational age, Dehydration, Macroglossia, Intrauterine growth retardation, Failure to... ORPHA:99886
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Dehydration, Dysphagia, Intrauterine growth retardation, Failure to thrive OMIM:618958
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea OMIM:614328
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Short stature, Secretory diarrhea, Enterocolitis, Failure to thrive, Episodic vo... OMIM:616050
Idiopathic Achalasia
Weight loss, Gastroesophageal reflux, Dysphagia ORPHA:930
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Edema, Diarrhea, Vomiting, Protein-losing enteropathy, Steatorrhea, Failure to t... OMIM:602579
Microvillus Inclusion Disease
Diarrhea, Abnormal small intestinal villus morphology, Dehydration, Villous atrophy ORPHA:2290
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Short stature, Failure to th... ORPHA:388
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive ORPHA:79283
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss ORPHA:52416
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Small for gestational age, Lethargy OMIM:617065
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Secretory diarrhea, Dehydration, Vomiting, Failure to thrive OMIM:616069
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Lethargy, Short stature OMIM:618573
Proprotein Convertase 1/3 Deficiency
Diarrhea, Malabsorption, Obesity, Villous atrophy OMIM:600955
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy, Small for gestational age, Edema OMIM:610498
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss... OMIM:613662
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Lethargy, Failure to thrive OMIM:274270
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Gastroesophageal reflux, Dehydration OMIM:251120
Pseudomyxoma Peritonei
Intestinal obstruction, Weight loss, Inflammation of the large intestine, Constipation, Ascites ORPHA:26790
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Lethargy, Failure to thrive, Dysphagia OMIM:613561
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive ORPHA:26
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Failure to thrive, Vomiting, Dehydration ORPHA:289504
Severe Canavan Disease
Gastroesophageal reflux, Vomiting, Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Netherton Syndrome
Hypernatremic dehydration, Villous atrophy, Angioedema, Failure to thrive, Recurrent infection of... OMIM:256500
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Edema, Malabsorption, Diarrhea, Steatorrhea, Weight lo... ORPHA:2070
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... OMIM:619377
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Vomiting, Intraute... ORPHA:1201
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Autosomal Agammaglobulinemia
Malabsorption, Diarrhea, Dehydration, High palate, Failure to thrive ORPHA:33110
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Growth delay, Vomiting OMIM:619510
Cystinosis
Short stature, Malabsorption, Dehydration, Vomiting, Delayed puberty, Failure to thrive ORPHA:213
Mitochondrial Complex I Deficiency, Nuclear Type 5
Growth delay, Vomiting, Dysphagia, Lethargy, Failure to thrive, Episodic vomiting OMIM:618226
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Lethargy ORPHA:26792
Refractory Celiac Disease
Villous atrophy, Malabsorption, Chronic diarrhea, Weight loss, Protein-losing enteropathy, Jejunitis ORPHA:398063
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Failure to thrive, Vomiting, Dehydration OMIM:602722
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Weight loss, Inflammation of the large intestine OMIM:191390
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive, Vomiting OMIM:237310
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dehydration ORPHA:79159
Thyroid Dyshormonogenesis 1
Growth delay, Macroglossia, Constipation, Lethargy, Goiter OMIM:274400
Dihydropyrimidinase Deficiency
Growth delay, Lethargy, Anal atresia OMIM:222748
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate, Weight loss ORPHA:141152
Cyclic Vomiting Syndrome
Gastrointestinal dysmotility, Growth delay, Vomiting, Lethargy, Nausea OMIM:500007
Pulmonary Blastoma
Weight loss ORPHA:64741
Pontocerebellar Hypoplasia, Type 6
Lethargy, Failure to thrive, Gastroesophageal reflux, Narrow palate OMIM:611523
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive OMIM:209920
Carnitine Deficiency, Systemic Primary
Diarrhea, Dehydration, Vomiting, Lethargy, Failure to thrive OMIM:212140
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Failure to thrive, Dehydration ORPHA:79312
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... ORPHA:2494
Malignant Peritoneal Mesothelioma
Peritonitis, Ileus, Pedal edema, Weight loss, Ascites ORPHA:168811
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Failure to thrive, Vomiting, Dehydration OMIM:203400
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Episodic vomiting OMIM:618224
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Dehydration, Weight loss, Vomiting, Ch... ORPHA:171876
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Lethargy, Failure to thrive, Short stature ORPHA:2089
Propionic Acidemia
Short stature, Dehydration, Constipation, Vomiting, Lethargy, Failure to thrive OMIM:606054
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Pancreatic fibrosis, Small for gestational age, Malabsorption, Chronic diarrhea,... OMIM:557000
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Secretory diarrhea, Elevated stool chloride content, Dehydration, Growth delay, F... OMIM:214700
Isovaleric Acidemia
Lethargy, Vomiting, Dehydration OMIM:243500
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Failure to thrive, Vomiting, Dehydration ORPHA:556030
Huntington Disease-Like 2
Weight loss, Bradykinesia, Depression, Apathy, Inertia OMIM:606438
Laryngeal Neuroendocrine Tumor
Weight loss, Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia ORPHA:100083
Citrullinemia Type I
Gastroesophageal reflux, Failure to thrive, Vomiting, Lethargy ORPHA:247525
Idiopathic Intracranial Hypertension
Obesity, Depression, Vomiting, Lethargy, Nausea ORPHA:238624
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Failure to thrive, Vomiting, Dehydration OMIM:264350
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Cap Polyposis
Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Constipation, Colorectal polyposis ORPHA:160148
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Vomiting, Dehydration OMIM:602199
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... OMIM:619079
Tuberculosis
Weight loss ORPHA:3389
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive, Vomiting OMIM:618228
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Villous atrophy, Chronic diarrhea, Ileus OMIM:304790
Immunodeficiency 31C
Villous atrophy, Short stature, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Growth dela... OMIM:614162
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Failure to thrive, Vomiting, Dehydration OMIM:251000
Glucose-Galactose Malabsorption
Diarrhea, Dehydration, Weight loss, Vomiting, Failure to thrive ORPHA:35710
Idiopathic Congenital Hypothyroidism
Facial edema, Macroglossia, Constipation, Lethargy ORPHA:95717
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Failure to thrive, Small for gestational age, Dehydration OMIM:214150
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Malabsorption, Lymphedema, Diarrhea, Furrowed tongue, Hamartomato... ORPHA:2930
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Failure to thrive, Vomiting, Dehydration OMIM:177735
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Wolman Disease
Cachexia, Esophageal varix, Growth delay, Steatorrhea, Ascites ORPHA:75233
Alpha-Heavy Chain Disease
Growth delay, Abnormal small intestine morphology, Ascites, Malabsorption ORPHA:100025
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Corticosterone Methyloxidase Type Ii Deficiency
Growth delay, Failure to thrive, Dehydration OMIM:610600
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Growth delay, Gastroesophageal reflux, Lethargy, Failure to thrive OMIM:614857
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Failure to thrive, Vomiting, Dehydration OMIM:560000
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive, Vomiting, Cerebral edema OMIM:237300
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Growth delay, Inflammation of the large in... OMIM:614700
Glycine Encephalopathy 1
Lethargy OMIM:605899
Pfapa Syndrome
Weight loss, Malabsorption ORPHA:42642
Vipoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Malabsorption, Incre... ORPHA:97282
Shigellosis
Failure to thrive in infancy, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody dia... ORPHA:810
Pleural Mesothelioma
Pleural effusion, Weight loss, Dysphagia ORPHA:50251
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Peritonitis, Esophageal varix... ORPHA:131
Netherton Syndrome
Short stature, Dehydration, Malabsorption ORPHA:634
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Dysphagia OMIM:233910
Methylmalonic Aciduria, Cblb Type
Lethargy, Failure to thrive, Vomiting, Dehydration OMIM:251110
Classic Galactosemia
Cryptorchidism, Diarrhea, Depression, Vomiting, Delayed puberty, Lethargy, Ascites ORPHA:79239
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Spinocerebellar Ataxia 48
Depression, Cachexia, Dysphagia OMIM:618093
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Failure to thrive, Vomiting, Dehydration OMIM:615453
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Failure to thrive, Vomiting ORPHA:2394
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, Vomiting, P... OMIM:175500
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Hypertonic dehydration, Constipation, Vomiting, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Hypertonic dehydration, Constipation, Vomiting, Failure to thrive OMIM:304800
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Vomiting OMIM:618225
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Increased body weight ORPHA:276608
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Diarrhea, Vomiting, Stea... OMIM:212065
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Dehydration ORPHA:27
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Small for gestational age OMIM:312170
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diarrhea, Short stature ORPHA:49827
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Beta-Ketothiolase Deficiency
Edema, Diarrhea, Dehydration, Weight loss, Vomiting, Apathy ORPHA:134
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Atrophic muscu... ORPHA:298
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Vomiting, Lethargy, Failure to thrive, Nausea ORPHA:927
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Vomiting, Failure to thrive OMIM:612075
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Steatorrhea OMIM:607748
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Ileus, Ovarian neoplasm, Weight loss, As... ORPHA:83469
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy, Constipation ORPHA:101150
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Pancreatic cysts, Esophageal varix, Dehydration, Neonatal death, Oligohydramnios OMIM:263200
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Typhoid
Gastrointestinal hemorrhage, Lethargy, Diarrhea, Constipation ORPHA:99745
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Diarrhea, Vomiting, Cachexia ORPHA:42
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Diarrhea, Peritonitis, Rectal prolapse, Colonic stenosis, Dehydration, Bl... ORPHA:90038
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Failure to thrive OMIM:236270
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Failure to thrive in infancy OMIM:619064
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret... OMIM:619573
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea, Failure to thrive in infancy OMIM:606367
Adrenal Hypoplasia, Congenital
Cryptorchidism, Failure to thrive, Dehydration, Delayed puberty OMIM:300200
Necrotizing Enterocolitis
Small for gestational age, Edema, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Lethargy, Asc... ORPHA:391673
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Short stature, Small for gestational age, Tracheoesophageal fistula, High palate, Stomatitis, Let... OMIM:277380
Familial Thyroid Dyshormonogenesis
Facial edema, Macroglossia, Constipation, Lethargy, Goiter ORPHA:95716
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Small for gestational age, Large for gestational age ORPHA:324575
Congenital Disorder Of Glycosylation, Type Ih
Edema, Cryptorchidism, Diarrhea, Ascites, Vomiting, Protein-losing enteropathy, Neonatal death, I... OMIM:608104
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Failure to thrive, Episodic vomiting OMIM:238970
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration, Zollinger... ORPHA:652
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Vomiting, Intrauterine growth retardation, Failure to thrive, Lethargy ORPHA:2169
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Failure to thrive OMIM:250620
Wolcott-Rallison Syndrome
Short stature, Dehydration, Growth delay, Decreased body weight, Ascites, Exocrine pancreatic ins... ORPHA:1667
Renal Hypoplasia, Bilateral
Short stature, Small for gestational age, Edema, Cryptorchidism, Growth delay, Lethargy, Failure ... ORPHA:97362
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Methylmalonic Acidemia With Homocystinuria Type Cblf
Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardation, Failure to thrive, Gloss... ORPHA:79284
Citrullinemia Type Ii
Diarrhea, Mania, Vomiting, Hepatocellular carcinoma, Lethargy, Delayed menarche, Decreased body m... ORPHA:247585
Dengue Fever
Gastrointestinal hemorrhage, Lethargy, Diarrhea, Ascites ORPHA:99828
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Pituitary hypothyroidism, Depression, Growth delay, Macroglossia, Constipation, Mac... ORPHA:90674
Methylmalonic Aciduria, Cbla Type
Lethargy, Failure to thrive, Vomiting, Dehydration OMIM:251100
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Diarrhea, Dehydration, Weight loss, Apathy, Lethargy, Episodic vomiting ORPHA:20
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Holocarboxylase Synthetase Deficiency
Growth delay, Lethargy, Weight loss ORPHA:79242
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Celiac Disease, Susceptibility To, 1
Short stature, Celiac disease, Postnatal growth retardation, Diarrhea, Depression, Weight loss, V... OMIM:212750
Huntington Disease-Like 2
Weight loss ORPHA:98934
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Depression, Gr... ORPHA:99832
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Celiac disease, Diarrhea, Pituitary adenoma, Adrenocorticotropic hormone defi... ORPHA:199299
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Failure to thrive, Short stature OMIM:611590
Mpi-Cdg
Gastrointestinal hemorrhage, Edema, Diarrhea, Vomiting, Protein-losing enteropathy, Failure to th... ORPHA:79319
Cystic Fibrosis
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Dehydration, Steatorrhea, Failure to thrive, Ex... OMIM:219700
Insulinoma
Primary hyperparathyroidism, Increased body weight, Zollinger-Ellison syndrome, Pituitary prolact... ORPHA:97279
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, Polyhydramnios, Intractable diarrhea, ... OMIM:222470
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Overweight, Pericardial effusion, Obesity, Anteriorly placed anus, Vom... ORPHA:26793
Lysosomal Acid Lipase Deficiency
Cachexia, Diarrhea, Esophageal varix, Dehydration, Weight loss, Ascites, Vomiting, Steatorrhea, F... ORPHA:275761
Pyruvate Dehydrogenase Deficiency
Growth delay, Intrauterine growth retardation, High palate, Lethargy ORPHA:765
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy OMIM:246900
Cholera
Achlorhydria, Diarrhea, Dehydration, Vomiting, Lethargy ORPHA:173
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Large for gestational age ORPHA:276556
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Lymphedema, Diarrhea, Weight loss ORPHA:33276
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Dehydration, Growth de... ORPHA:47159
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux, Lethargy OMIM:201475
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Lynch Syndrome
Gastrointestinal hemorrhage, Intestinal polyposis, Pancreatic adenocarcinoma, Neoplasm of the pan... ORPHA:144
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Weight loss, Joint swelling, Apathy, Hepatocellular carcinoma, Lethargy, Test... ORPHA:465508
Perry Syndrome
Weight loss, Apathy, Depression ORPHA:178509
Syndromic Diarrhea
Villous atrophy, Gastritis, Hepatoblastoma, Short stature, Small for gestational age, Bloody diar... ORPHA:84064
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Large for gestational age ORPHA:276575
Huntington Disease
Oral-pharyngeal dysphagia, Depression, Bradykinesia, Weight loss, Apathy, Decreased body mass index ORPHA:399
Glutaric Acidemia Type 3
Lethargy, Failure to thrive ORPHA:35706
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Small for gestational age, Dehydration, Oligohydramnios OMIM:208085
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Large for gestational age ORPHA:276580
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intes... OMIM:603041
Cirrhosis, Familial
Lethargy, Ascites, Esophageal varix OMIM:215600
Benign Recurrent Intrahepatic Cholestasis
Chronic diarrhea, Weight loss, Acholic stools, Hepatocellular carcinoma, Cholelithiasis ORPHA:65682
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Dehydration OMIM:620126
Familial Cold Urticaria
Dehydration ORPHA:47045
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Diarrhea, Lethargy, Failure to thrive, Decreased testicular size OMIM:201100
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Rhizomelia, Edema, Polyhydramnios, Cryptorchidism, Lethargy, Failure t... OMIM:607143
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... OMIM:615710
X-Linked Agammaglobulinemia
Short stature, Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis, Failure to thrive ORPHA:47
Juvenile Huntington Disease
Bradykinesia, Weight loss, Depression ORPHA:248111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Short stature OMIM:618120
Wild Type Attr Amyloidosis
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Pedal edema, Weight loss, Int... ORPHA:330001
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Bloody diarr... ORPHA:67
Genetic Transient Congenital Hypothyroidism
Edema, Macroglossia, Constipation, Lethargy, Thyroid hypoplasia, Goiter ORPHA:226316
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... ORPHA:440437
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Lethargy, Failure to thrive OMIM:605711
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Follicular Lymphoma
Lymphedema, Pleural effusion, Weight loss ORPHA:545
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Failure to thrive, Vomiting OMIM:210200
Pancreatic Colipase Deficiency
Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreat... ORPHA:309108
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Riboflavin Deficiency
Lethargy OMIM:615026
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Weight loss, Ovarian neoplasm, Macroglossia, Glossitis ORPHA:2221
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dehydration, Growth delay, Stomatitis, Intrauterine growth retardation, Failure ... ORPHA:79282
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Oral-pharyngeal dysphagia, Diarrhea, Gastrointestinal ... ORPHA:2131
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Dehydration, Adrenocorticotropic hormone excess, Vomiting, Failure to thrive, Con... ORPHA:90791
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Weight loss, Dysphagia, Nodular goiter, Goiter ORPHA:142
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Combined Oxidative Phosphorylation Deficiency 52
Lethargy OMIM:619386
Pearson Syndrome
Hypoparathyroidism, Median cleft lip and palate, Pancreatic fibrosis, Decreased response to growt... ORPHA:699
Isaacs Syndrome
Weight loss ORPHA:84142
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Chronic diarrhea, Gastroesophageal reflux, Vomiting, Lethargy, Pleural effusion, Failure to thrive OMIM:620233
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Lethargy ORPHA:289916
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Diarrhea, Increased body weight, Vomiting, Lethargy ORPHA:263455
Erythrokeratodermia Variabilis
Abnormal testis morphology, Short stature, Weight loss ORPHA:317
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Polyhydramnios, Narrow palate, High palate, Gastroesophageal reflux, Neonatal death OMIM:618186
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Vomiting, Cerebral edema OMIM:201450
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Cholelithiasis, Villous atrophy, Small for gestational age ORPHA:567983
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Combined Oxidative Phosphorylation Deficiency 11
Neonatal death, Lethargy, Stillbirth, Polyhydramnios OMIM:614922
Lamellar Ichthyosis
Short stature, Dehydration ORPHA:313
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Failure to thrive, Small for gestational age, Hydrops fetalis OMIM:609015
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Short stature, Cachexia, Ileus, Constipation ORPHA:52503
Maple Syrup Urine Disease
Lethargy, Vomiting, Cerebral edema OMIM:248600
Majeed Syndrome
Edema, Cachexia, Malabsorption, Weight loss, Failure to thrive ORPHA:77297
Ogden Syndrome
Postnatal growth retardation, High, narrow palate, Lethargy, Cryptorchidism ORPHA:276432
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Melena, Vomiting, Dysphagia, Lethargy, Nausea ORPHA:319218
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Failure to thrive OMIM:615838
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Gastritis, Duodenal ulcer, Diarrhea, Weight loss, Joint swelling, Colitis, Vomit... OMIM:619381
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Vomiting OMIM:600649
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Short stature, Polyhydramnios, Growth delay, Constipation, Failure to ... ORPHA:223
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Magel2-Related Prader-Willi-Like Syndrome
Short stature, Cryptorchidism, Xerostomia, Increased body weight, Chronic constipation, Abdominal... ORPHA:398069
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss... ORPHA:679
Renpenning Syndrome
Severe short stature, Cachexia, High, narrow palate, Cleft palate, Growth delay, Decreased testic... ORPHA:3242
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Oromandibular Dystonia
Depression, Weight loss, Dysphagia ORPHA:93958
Alg9-Cdg
Villous atrophy, Rhizomelia, Pericardial effusion, Diarrhea, Hydrops fetalis, Hypoplasia of the o... ORPHA:79328
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Dysphagia, Nodular goiter ORPHA:1332
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Short stature, Diarrhea, Esophageal carcinoma, Enterocolitis, Growth delay, Abno... ORPHA:391487
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Proportionate short stature, Diarrhea, Vomiting, Intrauterine growth retardation, Failure to thri... ORPHA:71212
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Gastroparesis, Edema, Depression, Bradykinesia, Constipation, Gastroe... ORPHA:254892
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Malabsorption, Diarrhea, Weight loss, Ascites ORPHA:98850
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, Intrauterine growth retardation OMIM:616271
Familial Hypoaldosteronism
Growth delay, Lethargy, Diarrhea, Failure to thrive ORPHA:427
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Xerostomia, Obesity, Abdominal obesity, Small pituitary gland, Lethargy, Failure ... ORPHA:398079
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Acrodermatitis Enteropathica
Short stature, Malabsorption, Chronic diarrhea, Furrowed tongue, Weight loss, Failure to thrive, ... ORPHA:37
Familial Renal Glucosuria
Moderate postnatal growth retardation, Dehydration ORPHA:69076
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon, Cachexia ORPHA:1438
Hypothyroidism Due To Tsh Receptor Mutations
Edema, Macroglossia, Constipation, Lethargy, Thyroid hypoplasia, Goiter ORPHA:90673
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Edema, Weight loss ORPHA:324964
Christianson Syndrome
Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Infantile Liver Failure Syndrome 2
Lethargy, Vomiting OMIM:616483
Pancreatic Triacylglycerol Lipase Deficiency
Edema, Diarrhea, Weight loss, Growth delay, Colitis, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309031
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Vomiting OMIM:614299
Microsporidiosis
Cachexia, Peritonitis, Chronic diarrhea, Abnormality of the parathyroid gland, Dehydration, Weigh... ORPHA:2552
Multifocal Atrial Tachycardia
Cryptorchidism, Lethargy ORPHA:3282
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Short stature, Anal atresia ORPHA:884
Isolated Atp Synthase Deficiency
Lethargy, Short stature ORPHA:254913
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Citrullinemia, Classic
Lethargy, Failure to thrive, Vomiting, Cerebral edema OMIM:215700
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration, Weight loss, Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive ORPHA:99885
Susac Syndrome
Lethargy, Apathy ORPHA:838
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, High palate OMIM:604377
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy, Vomiting, Dysphagia OMIM:607483
Trichinellosis
Edema, Facial edema, Periorbital edema, Apathy, Dysphagia, Lethargy, Nausea ORPHA:863
Harlequin Ichthyosis
Dehydration ORPHA:457
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Diarrhea, Weight loss, Severe short-limb dwarfism, Failure to thrive ORPHA:1842
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esophagus morpho... ORPHA:1018
Transcobalamin Ii Deficiency
Lethargy, Diarrhea, Failure to thrive, Vomiting OMIM:275350
Pyruvate Carboxylase Deficiency
Dehydration, Growth delay, Apathy, Vomiting, Failure to thrive ORPHA:3008
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Diarrhea, Rectal prola... ORPHA:79076
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Weig... ORPHA:1333
Infantile Nephropathic Cystinosis
Dehydration, Growth delay, Constipation, Vomiting, Failure to thrive ORPHA:411629
Semilobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Cleft palate, Depression, G... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Cleft palate, Depression, G... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Cleft palate, Depression, G... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Cleft palate, Depression, G... ORPHA:93924
Yao Syndrome
Diarrhea, Xerostomia, Weight loss OMIM:617321
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Diarrhea, Weight loss ORPHA:411703
Glucagonoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... ORPHA:97280
Mcdonough Syndrome
Cryptorchidism, Short stature, Cachexia ORPHA:2471
Severe Generalized Junctional Epidermolysis Bullosa
Edema, Esophageal stricture, Dehydration, Gastrointestinal inflammation, Growth delay, Constipati... ORPHA:79404
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Edema, Gastrointestinal obstruction, Weigh... ORPHA:100078
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Colitis, Esophageal stenosis OMIM:615190
Distal Renal Tubular Acidosis
Short stature, Diarrhea, Dehydration, Growth delay, Constipation, Vomiting, Failure to thrive ORPHA:18
Inflammatory Pseudotumor Of The Liver
Neoplasm of the liver, Vomiting, Nausea, Weight loss ORPHA:90003
Ppoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... ORPHA:97278
Rhabdoid Tumor
Neoplasm of the liver, Weight loss ORPHA:69077
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Short stature, Small for gestational age, Polyhydramnios, Diarrhea, Dehydrat... OMIM:601678
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Narrow palate, High palate, Vomiting, Lethargy, Oligohydramnios OMIM:608836
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Dehydration, Adrenocorticotropic ... ORPHA:168558
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Diarrhea OMIM:255120
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, P... ORPHA:85450
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Short stature, Malabsorption, Cryptorchidism, Narrow palate, Depression, Deh... ORPHA:534
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Cryptorchidism, Dehydration, Macroglossia, High palate, Intrauterin... ORPHA:96191
Renal Hypoplasia
Small for gestational age, Dehydration ORPHA:93101
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Constipation, Gastroesophageal reflux, Diarrhea OMIM:608643
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive, Vomiting, Cerebral edema OMIM:311250
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Dehydration, Adrenocorticotropic ... ORPHA:289548
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Pituitary dwarfism, Anterior pituitary hypoplasia, Decreased respons... ORPHA:226307
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Pituita... ORPHA:913
Thymic Carcinoma
Palpebral edema, Edema, Weight loss ORPHA:99868
Igg4-Related Aortitis
Intestinal obstruction, Weight loss ORPHA:449400
Eosinophilic Fasciitis
Muscular edema, Edema, Weight loss ORPHA:3165
Pseudo-Torch Syndrome 2
Lethargy, Pleural effusion, Ascites OMIM:617397
Glossopharyngeal Neuralgia
Depression, Odynophagia, Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Failure to thrive, Vomiting OMIM:210210
Huntington Disease-Like 1
Bradykinesia, Weight loss, Depression ORPHA:157941
Perry Syndrome
Bradykinesia, Weight loss, Apathy, Depression OMIM:168605
Fatal Familial Insomnia
Weight loss, Constipation, Dysphagia OMIM:600072
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Cryptorchidi... ORPHA:813
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Palpebral edema, Cryptorchidism, Cleft palate, High palate, Hypoplasti... OMIM:614866
Cystinosis, Nephropathic
Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Dysphagia, Weight loss, G... OMIM:219800
Dend Syndrome
Vomiting, Dehydration ORPHA:79134
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Weight loss ORPHA:168816
Whipple Disease
Gastrointestinal hemorrhage, Cachexia, Malabsorption, Diarrhea, Pedal edema, Depression ORPHA:3452
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Weight loss ORPHA:767
Somatostatinoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... ORPHA:97283
Grfoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... ORPHA:97261
Hereditary Late-Onset Parkinson Disease
Depression, Bradykinesia, Chronic constipation, Weight loss, Apathy, Dysphagia ORPHA:411602
Isolated Complex I Deficiency
Intrauterine growth retardation, Failure to thrive, Vomiting, Lethargy ORPHA:2609
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Pleural effusion, Weight loss ORPHA:2902
Argininosuccinic Aciduria
Lethargy, Failure to thrive, Vomiting, Cerebral edema OMIM:207900
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Constipation, Failure to thrive in infancy, Cachexia OMIM:616801
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Vomiting, Lethargy, Episodic vomiting, Cerebral edema OMIM:618321
Glycerol Kinase Deficiency
Short stature, Small for gestational age, Cryptorchidism, Growth delay, Lethargy, Episodic vomiting OMIM:307030
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Lethargy, Failure to thrive in infancy ORPHA:746
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Polyhydramnios, Ascites, Intrauterine growth retardation, Failure to thrive, Lethargy OMIM:617156
Nephroblastoma
Neoplasm of the liver, Weight loss ORPHA:654
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Dysphagia ORPHA:216866
Isolated Succinate-Coq Reductase Deficiency
Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss ORPHA:3208
Meningococcal Meningitis
Lethargy, Projectile vomiting ORPHA:33475
Wilson Disease
Increased body weight, Weight loss, Depression, Joint swelling, Failure to thrive ORPHA:905
Systemic Capillary Leak Syndrome
Diarrhea, Pedal edema, Weight loss, Pleural effusion, Pulmonary edema ORPHA:188
Takayasu Arteritis
Gastrointestinal infarctions, Weight loss ORPHA:3287
Evans Syndrome
Lethargy ORPHA:1959
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting, Dehydration ORPHA:230
Staphylococcal Necrotizing Pneumonia
Lethargy, Pleural effusion, Pleural empyema ORPHA:36238
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Perianal abscess, Diarrhea, Weight loss, Chronic constipation, Inflammation of... OMIM:301074
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Oligomeganephronia
Small for gestational age, Dehydration ORPHA:2260
Graves Disease, Susceptibility To, 1
Weight loss, Goiter OMIM:275000
Osteosarcoma
Joint swelling, Weight loss ORPHA:668
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Bartter Syndrome Type 4
Small for gestational age, Polyhydramnios, Dehydration, Vomiting, Severe failure to thrive, Failu... ORPHA:89938
Rett Syndrome
Cachexia, Constipation, Gastroesophageal reflux, Short stature OMIM:312750
Immunodeficiency 27A
Diarrhea, Weight loss OMIM:209950
Bartter Syndrome, Type 2, Antenatal
Short stature, Small for gestational age, Polyhydramnios, Diarrhea, Dehydration, Constipation, Vo... OMIM:241200
Histiocytoid Cardiomyopathy
Cleft palate, Polycystic ovaries, Vomiting, Lethargy, Failure to thrive, Pulmonary edema ORPHA:137675
Juvenile Nephropathic Cystinosis
Growth delay, Failure to thrive, Vomiting, Dehydration ORPHA:411634
Neuroleptic Malignant Syndrome
Vomiting, Nausea, Dehydration, Dysphagia ORPHA:94093
Colchicine Poisoning
Diarrhea, Vomiting, Nausea, Dehydration ORPHA:31824
Posterior Urethral Valve
Postnatal growth retardation, Lethargy, Oligohydramnios ORPHA:93110
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Failure to thrive OMIM:201470
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Gastroparesis, Xerostomia... ORPHA:85443
Hereditary Fructose Intolerance
Diarrhea, Growth delay, Constipation, Vomiting, Lethargy, Nausea ORPHA:469
Neuroendocrine Tumor Of The Rectum
Protracted diarrhea, Hematochezia, Melena, Bloody diarrhea, Weight loss, Constipation ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Protracted diarrhea, Hematochezia, Melena, Bloody diarrhea, Weight loss, Constipation ORPHA:100082
Mast Cell Sarcoma
Weight loss ORPHA:66661
Medulloblastoma
Lethargy, Adenomatous colonic polyposis ORPHA:616
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Orchitis, Odynophagia, Diarrhea, Dehydration, Bloody d... ORPHA:99826
Gm1 Gangliosidosis
Short stature, Hydrops fetalis, Weight loss, Macroglossia, Gastroesophageal reflux, Dysphagia, Fa... ORPHA:354
Focal Myositis
Weight loss ORPHA:48918
Neuroendocrine Tumor Of The Colon
Melena, Weight loss, Protracted diarrhea, Bloody diarrhea ORPHA:100080
Caroli Disease
Cholangiocarcinoma, Esophageal varix, Weight loss, Vomiting, Cholelithiasis, Ascites, Nausea ORPHA:53035
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Malabsorption, Weight loss, Gastroesophageal reflux, Dysphagia ORPHA:183
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Castleman Disease
Abnormality of the gastrointestinal tract, Intestinal obstruction, Anasarca, Weight loss ORPHA:160
Polymyositis
Gastrointestinal hemorrhage, Constipation, Gastroesophageal reflux, Weight loss ORPHA:732
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Goiter OMIM:188580
Non-Functioning Paraganglioma
Nausea, Weight loss ORPHA:94080
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Cachexia, Constipation, Severe failure to thrive, Intrauterine growth retardation ORPHA:371364
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Ascites, Nausea, Weight loss ORPHA:100086
Diamond-Blackfan Anemia
Short stature, Cleft soft palate, Small for gestational age, Nonimmune hydrops fetalis, Growth de... ORPHA:124
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Macroglossia, Constipation, Ectopic thyroid, Lethargy, Thyroid hypoplasia, Goiter OMIM:218700
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Vomiting, Lethargy, Failure to thrive, Cerebral edema OMIM:252010
Pelizaeus-Merzbacher Disease
Cachexia, Short stature, Failure to thrive in infancy, Bowel incontinence ORPHA:702
Holocarboxylase Synthetase Deficiency
Lethargy, Vomiting OMIM:253270
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Goiter OMIM:613239
Solitary Fibrous Tumor
Neoplasm of the liver, Constipation, Weight loss ORPHA:2126
Scrub Typhus
Lethargy ORPHA:83317
8P23.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, High palate, Intrauterine grow... ORPHA:251071
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Failure to thrive ORPHA:395
Thymoma
Neoplasm of the gastrointestinal tract, Ulcerative colitis, Weight loss ORPHA:99867
Imerslund-Gräsbeck Syndrome
Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis ORPHA:35858
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Weight loss, Neoplasm of the liver, Ascites, Nausea ORPHA:100085
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... ORPHA:2929
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter ORPHA:424
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Short stature, Testicular adrenal rest tumor, Dehydration, Weight loss, Vomiting, Failure to thri... ORPHA:90794
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Weight loss ORPHA:3226
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Vomiting, Lethargy, Failure to thrive, Nausea OMIM:229600
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intrauterine growth retardation, Fa... ORPHA:217346
Biotinidase Deficiency
Lethargy, Diarrhea, Vomiting OMIM:253260
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Abnormal testis morphology, Weight loss ORPHA:54251
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Ulcerative colitis, Depression, Wei... ORPHA:171
Tropical Pancreatitis
Pancreatic adenocarcinoma, Pancreatic calcification, Weight loss, Vomiting, Abnormal pancreatic d... ORPHA:103918
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, We... ORPHA:537
Encephalitis Lethargica
Lethargy, Bowel incontinence ORPHA:83600
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Short stature, Abnormal large intestine morphology, Cachexia, Lymphedema, N... ORPHA:109
Primary Fanconi Renotubular Syndrome
Growth delay, Dehydration, Weight loss ORPHA:3337
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia ORPHA:1933
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Cachexia ORPHA:2774
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Diarrhea, Vomiting, Steatorrhea, Lethargy,... ORPHA:470
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparat... ORPHA:97289
Reactive Arthritis
Diarrhea, Weight loss, Joint swelling, Inflammation of the large intestine, Recurrent aphthous st... ORPHA:29207
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Failure to thrive, Episodic vomiting ORPHA:415
Neuroendocrine Tumor Of Stomach
Hematemesis, Protracted diarrhea, Melena, Bloody diarrhea, Weight loss, Zollinger-Ellison syndrom... ORPHA:100075
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Failure to thrive OMIM:277400
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Klatskin Tumor
Cholangiocarcinoma, Weight loss ORPHA:99978
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Gastroparesis, Weight loss, Depression, Dysphagia OMIM:607459
Familial Glucocorticoid Deficiency
Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight loss, Constipation, Vomiting, Ley... ORPHA:361
Rheumatoid Arthritis
Joint swelling, Weight loss OMIM:180300
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Edema, Hematemesis, Pericardial effusion, Diarrhea, Bloody diarrhea, Hematoch... OMIM:615846
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Secretory diarrhea, Coli... ORPHA:37042
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Aicardi-Goutieres Syndrome 9
Edema, Pericardial effusion, Weight loss, Ascites, Intrauterine growth retardation, Failure to th... OMIM:619487
Hydranencephaly
Postnatal growth retardation, Intrauterine growth retardation, Lethargy, Atrophic pituitary gland ORPHA:2177
Liposarcoma
Weight loss ORPHA:69078
Familial Gestational Hyperthyroidism
Goiter, Diarrhea, Weight loss, Thyroid hyperplasia ORPHA:99819
Gerstmann-Straussler Disease
Bradykinesia, Weight loss, Depression OMIM:137440
Kufor-Rakeb Syndrome
Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy ORPHA:306674
Bullous Pemphigoid
Weight loss ORPHA:703
Aredyld Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:1133
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Episodic vomiting OMIM:615751
Giant Cell Arteritis
Gastrointestinal infarctions, Weight loss, Glossitis, Depression ORPHA:397
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Diarrhea, Nausea, Weight loss ORPHA:98849
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Nodular Non-Suppurative Panniculitis
Edema, Weight loss ORPHA:33577
Poems Syndrome
Edema, Pericardial effusion, Weight loss, Pleural effusion, Ascites, Increased circulating prolac... ORPHA:2905
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy ORPHA:159
Neuroblastoma, Susceptibility To, 1
Diarrhea, Failure to thrive, Weight loss OMIM:256700
Chronic Beryllium Disease
Weight loss ORPHA:133
Trisomy 18
Short stature, Cachexia, Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Growth ... ORPHA:3380
Pancreatoblastoma
Diarrhea, Vomiting, Pancreatic calcification, Weight loss ORPHA:677
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Leishmaniasis
Weight loss ORPHA:507
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Esophageal stricture, Weight loss, Dysphagia ORPHA:36426
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Infantile Krabbe Disease
Gastroesophageal reflux, Failure to thrive, Vomiting, Cachexia ORPHA:206436
Addison Disease
Hypoparathyroidism, Primary testicular failure, Celiac disease, Diarrhea, Weight loss, Constipati... ORPHA:85138
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm... ORPHA:143
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ascites, Weight loss, Ovarian neoplasm ORPHA:370348
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy OMIM:620306
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Weight loss ORPHA:514
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Weight loss, Nausea, Adrenal pheochromocytoma ORPHA:276621
Amoebiasis Due To Free-Living Amoebae
Lethargy, Vomiting, Nausea, Cerebral edema ORPHA:68
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Weight loss, Malabsorption ORPHA:79430
Fanconi Anemia
Meckel diverticulum, Aganglionic megacolon, Short stature, Aplasia/Hypoplasia of the uvula, Crypt... ORPHA:84
Pneumocystosis
Pleural effusion, Weight loss ORPHA:723
X-Linked Intellectual Disability, Cabezas Type
Short stature, Cachexia, Obesity, High palate, Decreased testicular size ORPHA:85293
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia ORPHA:300605
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Palpebral edema, Weight loss, Constipation, Dysphagia ORPHA:93672
Polycythemia Vera
Gastrointestinal hemorrhage, Weight loss ORPHA:729
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Bronchial Neuroendocrine Tumor
Weight loss, Elevated circulating growth hormone concentration, Protracted diarrhea ORPHA:97287
Pemphigus Vulgaris
Weight loss ORPHA:704
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Short Syndrome
Severe short stature, Weight loss ORPHA:3163
Chronic Graft Versus Host Disease
Diarrhea, Esophageal stricture, Xerostomia, Weight loss, Pleural effusion, Abnormal esophagus mor... ORPHA:99921
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Weight loss ORPHA:91139
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Facial edema, Xerostomia, Enlarged lacrimal glands, Weight loss, Enlargement of ... ORPHA:79078
Nijmegen Breakage Syndrome
Anal stenosis, Short stature, Cachexia, Anorectal anomaly, Chronic diarrhea, Cleft palate, Anal a... ORPHA:647
Loeffler Endocarditis
Weight loss ORPHA:75566
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased body weight,... ORPHA:2298
Acute Promyelocytic Leukemia
Stomatitis, Weight loss ORPHA:520
Xfe Progeroid Syndrome
Ascites, Failure to thrive, Severe short stature, Cachexia OMIM:610965
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Alveolar Echinococcosis
Pancreatic cysts, Vomiting, Pedal edema, Weight loss ORPHA:284
Biotinidase Deficiency
Lethargy ORPHA:79241
Brucellosis
Abnormality of the gastrointestinal tract, Small for gestational age, Orchitis, Depression, Weigh... ORPHA:1304
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Enlarged lacrimal glands, Weight loss, Pleural effusion, Inflammation of th... OMIM:181000
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Weight loss, Nausea, Adrenal pheochromocytoma ORPHA:29072
Multiple Myeloma
Pleural effusion, Functional abnormality of the gastrointestinal tract, Weight loss ORPHA:29073
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss ORPHA:1501
Drug Reaction With Eosinophilia And Systemic Symptoms
Angioedema, Weight loss ORPHA:139402
Felty Syndrome
Weight loss ORPHA:47612
Rat-Bite Fever
Diarrhea, Vomiting, Parotitis, Weight loss ORPHA:31205
Behçet Disease
Gastrointestinal hemorrhage, Malabsorption, Orchitis, Weight loss, Recurrent aphthous stomatitis,... ORPHA:117
Anemia, Congenital Dyserythropoietic, Type Iv
Short stature, Hydrops fetalis, Weight loss OMIM:613673
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Constipation, Pedal edema, Weight loss ORPHA:49041
Congenital Fiber-Type Disproportion Myopathy
Polyhydramnios, Weight loss, High palate, Dysphagia, Failure to thrive ORPHA:2020
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm... ORPHA:99889
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Weight loss ORPHA:400
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pericardial effusion... ORPHA:91347
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Short hard palate, Short stature ORPHA:1969
Acute Adrenal Insufficiency
Diarrhea, Weight loss, Constipation, Delayed puberty, Failure to thrive ORPHA:95409
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Mild postnatal growth retardation, Weight loss ORPHA:85408
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Periorbital edema, Intestinal obstruction, Weight loss ORPHA:900
Mucolipidosis Type Ii
Postnatal growth retardation, Short stature, Oligohydramnios, Weight loss ORPHA:576
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Primary Myelofibrosis
Cachexia ORPHA:824
Oculopharyngodistal Myopathy 1
Weight loss, High palate, Dysphagia OMIM:164310
Riddle Syndrome
Diarrhea, Short stature, Weight loss ORPHA:420741
Paroxysmal Nocturnal Hemoglobinuria
Lethargy, Odynophagia, Esophageal spasms, Dysphagia ORPHA:447
Renal Nutcracker Syndrome
Nausea, Weight loss ORPHA:71273
Exercise-Induced Malignant Hyperthermia
Lethargy, Vomiting, Nausea ORPHA:466650
Schwartz-Jampel Syndrome
Short stature, Cachexia, Polyhydramnios, Cleft palate, High palate, Decreased body weight, Testic... ORPHA:800
Dermatomyositis
Gastrointestinal stroma tumor, Periorbital edema, Edema, Weight loss ORPHA:221
Q Fever
Pericardial effusion, Pleural effusion, Weight loss ORPHA:781
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
Postinfectious Vasculitis
Orchitis, Unusual gastrointestinal infection, Weight loss, Gastrointestinal inflammation ORPHA:48435
Eisenmenger Syndrome
Pedal edema, Peripheral edema, Lethargy, Ascites, Generalized edema ORPHA:97214
Pineoblastoma
Lethargy, Pinealoma ORPHA:251909
Erdheim-Chester Disease
Joint swelling, Pleural effusion, Weight loss ORPHA:35687
Malt Lymphoma
Constipation, Weight loss ORPHA:52417
Glycine Encephalopathy
Lethargy ORPHA:407
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Palpebral edema, Weight loss, Enlargement of parotid g... ORPHA:50918
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Thyrotoxic Periodic Paralysis
Constipation, Obesity, Weight loss ORPHA:79102
Choreoacanthocytosis
Protruding tongue, Dysphagia, Depression, Bradykinesia, Weight loss, Apathy, Self-neglect ORPHA:2388
Pyomyositis
Weight loss, Testicular teratoma ORPHA:764
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Esophageal varix, Growth delay, Gastric ulcer, Delayed puberty, Cholelithiasis ORPHA:2072
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Familial Thrombocytosis
Weight loss ORPHA:71493
Pulmonary Alveolar Microlithiasis
Peripheral edema, Testicular microlithiasis, Weight loss ORPHA:60025
Cockayne Syndrome
Severe short stature, Cachexia, Postnatal growth retardation, Cryptorchidism, Growth delay, Gastr... ORPHA:191
Stickler Syndrome
Short stature, Slender build, Cachexia, Cleft palate, Macroglossia, Glossoptosis, Gastroesophagea... ORPHA:828
Sarcoidosis
Abnormality of the gastrointestinal tract, Enlarged lacrimal glands, Weight loss, Enlargement of ... ORPHA:797
Nocardiosis
Pleural effusion, Peritonitis, Vomiting, Weight loss ORPHA:31204
Igg4-Related Kidney Disease
Sialadenitis, Abnormality of the anterior pituitary, Pedal edema, Weight loss ORPHA:449395
African Trypanosomiasis
Diarrhea, Weight loss, Abnormal prolactin level, Vomiting, Apathy, Nausea ORPHA:3385
Hutchinson-Gilford Progeria Syndrome
Weight loss, High palate, Severe failure to thrive, Delayed menarche, Ankyloglossia ORPHA:740
Marfan Syndrome
High, narrow palate, Cachexia, Slender build, Cleft palate ORPHA:558
Camurati-Engelmann Disease
Slender build, Cachexia, Delayed puberty ORPHA:1328
Tubulointerstitial Nephritis And Uveitis Syndrome
Macular edema, Cystoid macular edema, Weight loss ORPHA:91500
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Lymphedema, Ovari... ORPHA:744
Tropical Endomyocardial Fibrosis
Peripheral edema, Ascites, Cachexia, Pedal edema ORPHA:75565
Norrie Disease
Cryptorchidism, Failure to thrive, Cachexia, Delayed puberty ORPHA:649
Goodpasture Syndrome
Weight loss OMIM:233450

Histopathology

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

There is no histopathology data for Mex3a

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 Mex3a.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
MEX3A regulates Lgr5+ stem cell maintenance in the developing intestinal epithelium. EMBO reports (February 2020) Mex3atm1(KOMP)Vlcg PMC7132344

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MGI Allele Allele Type Produced
Mex3atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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