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Gene: Vipr1 MGI:109272

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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:
vasoactive intestinal peptide receptor 1
Synonyms:
VIP-R1,  VPAC1,  VIP receptor subtype 1

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 Vipr1 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 Vipr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Short Stature Due To Ghsr Deficiency
Short stature, Hypoglycemia, Abnormality of body weight, Abdominal pain, Growth delay, Vomiting, ... ORPHA:314811
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... OMIM:615625
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Hypertonia, Ataxia ORPHA:2672
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... ORPHA:101108
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Vomiting, Abnormal int... OMIM:606528
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... OMIM:266600
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Short s... ORPHA:388
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... ORPHA:2198
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weig... ORPHA:26790
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Short Stature Due To Partial Ghr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314802
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Pituitary Hormone Deficiency, Combined, 4
Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia OMIM:262700
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, N... ORPHA:2869
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... ORPHA:131
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, Increased... OMIM:232700
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Dystonia 31
Abnormal posturing, Parkinsonism, Difficulty walking OMIM:619565
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Feeding dif... ORPHA:231140
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Re... ORPHA:324575
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal bleeding, Malabsorption, Splenomegaly, Jaundi... ORPHA:79301
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97283
Spinocerebellar Ataxia 11
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia OMIM:604432
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Small for gestational age, Feeding difficulties in infancy, Cleft palate, Intrauter... ORPHA:231147
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... ORPHA:209964
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance OMIM:609161
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the colon, ... ORPHA:44890
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Diarrhea 13
Secretory diarrhea, Recurrent hypoglycemia, Vomiting, Failure to thrive, Hepatic steatosis OMIM:620357
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Failure to thrive, Short stature, Hypoglycemia, Hepatocellular carcinoma, Abdominal... ORPHA:369
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:913
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... ORPHA:2924
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypogl... ORPHA:276580
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Vomit... ORPHA:79319
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97280
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, D... ORPHA:343
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97278
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Malabsorption, Pulmonary embolism, Abdominal pain, Diarrhea... OMIM:226300
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... ORPHA:254516
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Short stature, Obesity, Fasting hypoglycemia ORPHA:171706
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Bradykines... ORPHA:157941
Waardenburg-Shah Syndrome
Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Constipation, Abnormal intestine m... ORPHA:897
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, H... ORPHA:85450
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fe... ORPHA:276575
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Diarrhea, Growth delay, Increased hepati... OMIM:261750
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Feeding difficulties in infancy, Failure to thrive, Hypoglycemia OMIM:610090
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizure... ORPHA:276556
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Grfoma
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Hepa... ORPHA:97261
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Feeding difficulties in infancy, Congestive heart failure, Bradycardi... OMIM:619048
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hype... OMIM:262190
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O... OMIM:300148
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophagea... ORPHA:2591
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Growth delay, Colitis, Crohn's disease OMIM:613148
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... OMIM:117360
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia, Feeding difficulties OMIM:616111
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Cardiomyopathy, Constipation, Arrhythmia ORPHA:35
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Hypoglycemia, Cryptorchidism, Dysphagia, Intrauterine growth retardation, Failure t... OMIM:618958
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hepatic failure, Hypoglycemia ORPHA:664
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... ORPHA:276608
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption, Reactive hypoglycemia, Diarrhea, Obesity, Hypoinsulinemia OMIM:600955
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Test... ORPHA:83469
Endocardial Fibroelastosis
Hypoglycemia, Cryptorchidism, Congestive heart failure, Restrictive cardiomyopathy, Anterior hypo... ORPHA:2022
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay, Chronic const... OMIM:620211
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... ORPHA:2494
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 26
Impaired distal proprioception, Unsteady gait, Impaired distal vibration sensation, Limb ataxia, ... OMIM:617633
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Abdominal pain, Congestive heart failure, Diarrhea, Gastro... ORPHA:67
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Feeding difficulties, Cardiomyopathy, Intrauterine growth retardation, Fail... ORPHA:26792
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Abdominal pain, Diarrhea, Vomiting, Pancreatitis OMIM:620137
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Familial Hypofibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:98881
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypoglycemia, Vomiting, Hepatic failure, Hepatic steatosis OMIM:617872
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ische... ORPHA:183
Hemochromatosis, Neonatal
Abnormal bleeding, Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosi... OMIM:231100
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Bradykinesia, Gait ataxia, Gait ... ORPHA:225147
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Intrauterine growth retardation, Feeding difficulties OMIM:620368
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Gastroesophageal reflux OMIM:618158
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Incre... ORPHA:293964
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Ileus, Hepatitis, Type I diabetes mellitus, Failure to thrive OMIM:304790
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... ORPHA:2070
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Myoclonic Epilepsy, Familial Infantile
Ataxia, Impaired tandem gait, Limb ataxia, Gait ataxia OMIM:605021
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... ORPHA:85446
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Failure to thrive, Hypoglycemia, Decreased liver function ORPHA:67048
Sanjad-Sakati Syndrome
Hypoparathyroidism, Intestinal obstruction, Short stature, Postnatal growth retardation, Cryptorc... ORPHA:2323
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Short stature, Ketotic hypoglycemia, Glycosuria, Postp... ORPHA:2089
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Pyloric stenosis, Splenome... OMIM:613327
Malonyl-Coa Decarboxylase Deficiency
Short stature, Left ventricular noncompaction cardiomyopathy, Hypoglycemia, Abdominal pain, Diarr... OMIM:248360
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Feeding dif... ORPHA:231137
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Di... OMIM:615710
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Shigellosis
Anorexia, Intestinal perforation, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, Vomiting, ... ORPHA:810
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Vomiting, Intermittent diarrhea, Failure to thrive, Nasogastric tube feeding ORPHA:289504
Igg4-Related Aortitis
Intestinal obstruction, Weight loss, Abdominal pain ORPHA:449400
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Failure to thrive, Hypoglycemia... OMIM:276700
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Vomiting, Ketotic hypoglycemia, Pulmonic stenosis ORPHA:79159
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Fail... OMIM:606824
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hematochezia, Hamartomat... OMIM:175500
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Opisthotonus, Tip-toe gait, Gait disturbance, Spasticity, ... ORPHA:216866
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Abnormal cardiac ventricular function, Failure to thrive, Hypoglycemia, Feeding dif... ORPHA:2394
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Glycogen Storage Disease Ixc
Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct p... OMIM:613027
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular... ORPHA:100082
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia OMIM:606764
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia, Poor suck, Decreased liver function, Episodic vomiting OMIM:615160
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Feeding difficulties, Decreased liver function, Hypertrophic cardiomy... OMIM:246900
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... ORPHA:98772
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Short stature, Cardiomyopathy, Hepatic fibrosis OMIM:232400
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Diarrhea, Splenomegaly, Jaundice, Hepa... OMIM:613812
Cog8-Cdg
Hypoglycemia, Spontaneous hematomas, Prolonged prothrombin time, Protein-losing enteropathy, Fail... ORPHA:95428
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:231200
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Growt... OMIM:617341
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... ORPHA:97282
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia, Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglyc... ORPHA:436174
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepatic cholestasis, Hematochezia, Pr... OMIM:214950
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Vomiting, Hepatic fibrosis, Fasting hypoglycemia, Hepatic steatosis, Nause... ORPHA:264580
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Short stature, Small for gestational age, Malabsorption, Chronic diarrhea... OMIM:601675
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Myocardial infa... ORPHA:342
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Short stature, Cachexia, Ileus, Constipation ORPHA:52503
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Propionic Acidemia
Hepatomegaly, Short stature, Hypoglycemia, Poor appetite, Feeding difficulties in infancy, Cerebe... OMIM:606054
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Insulin res... ORPHA:73272
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... ORPHA:157794
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Small for gestational age, Feeding difficulties, Bradycardia, Intrauterine growth r... OMIM:614702
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Diarrhea, Hyperinsulinemia, Increased body ... ORPHA:263455
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
2P21 Microdeletion Syndrome
Growth delay, Failure to thrive, Hypoglycemia ORPHA:163693
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i... ORPHA:100079
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Anorexia, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis OMIM:619386
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Diarrhea, Congestive heart failure, Cardiomyopath... OMIM:212140
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea, Hypoglycemia, Intrauterine growth retardation OMIM:616355
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athetosis, Abno... ORPHA:280219
Spinocerebellar Ataxia, Autosomal Recessive 11
Gait disturbance, Ataxia, Limb ataxia, Truncal ataxia OMIM:614229
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Feeding difficulties, Cholestatic liver disease, Hypertrophic cardiom... ORPHA:5
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia... ORPHA:3440
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Type II diabetes mellitus, Choleli... ORPHA:79095
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myocardial infarction, Malabsorption, An... ORPHA:3452
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy, Prolonged prothrombin time, Vomiting OMIM:616483
Monosomy 13Q34
Epistaxis, Insulin resistance, Obesity, Hematochezia, Growth delay, Prolonged prothrombin time, P... ORPHA:96168
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... ORPHA:160
Donohue Syndrome
Postnatal growth retardation, Abdominal distention, Hyperinsulinemia, Cholestasis, Ovarian cyst, ... OMIM:246200
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... ORPHA:1414
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Gr... ORPHA:95619
Enteric Anendocrinosis
Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting, Type I diabete... ORPHA:83620
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abnormal bleeding, Short stature, Cachexia, Abdominal pain, High, na... ORPHA:79076
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Feeding difficulties, He... ORPHA:79237
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Nodular regenerative hyperpl... ORPHA:64743
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone co... OMIM:131100
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Feeding difficulties, Growth delay, Neonatal death, Intrauterine growth retardation... OMIM:245400
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegal... ORPHA:99745
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Prolonged QT interval, Proportionate short stature, Feeding difficulties i... ORPHA:71212
Lynch Syndrome
Gastrointestinal hemorrhage, Intestinal polyposis, Pancreatic adenocarcinoma, Neoplasm of the pan... ORPHA:144
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatic steatosis, Necrotizing enterocolitis, Hepatomegaly, Sudden cardi... OMIM:201475
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonar... ORPHA:900
Mirage Syndrome
Short stature, Hypoglycemia, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Hypoplastic ... OMIM:617053
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cachexia, Diarrhea, Vomiting, Decreased liver function, Arrhythmia, H... ORPHA:42
Riboflavin Deficiency
Poor suck, Hypoglycemia OMIM:615026
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Tremor, Inability to walk, Babinski sign, Blepharospasm, Hypertonia, Abnormal posturing OMIM:128100
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Dilated cardiomyopathy, Hepatic necro... OMIM:231530
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Splenomegaly, Ileus, Secretory ... ORPHA:37042
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Postnatal growth ... ORPHA:96184
Glycogen Storage Disease Ixa1
Growth delay, Hepatomegaly, Hypoglycemia, Splenomegaly OMIM:306000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... ORPHA:464321
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Cardiomyopathy, Vomiting, Failure to thrive, P... OMIM:251000
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, A... ORPHA:99828
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Abdominal distent... ORPHA:2088
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Aganglionic megacolon, Short stature, Feeding difficulties in infancy, Ile... OMIM:300352
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Small for gestational age, Postnatal growth retardation, Feeding difficulties in in... ORPHA:397590
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon... OMIM:261680
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Feeding difficulties, Dysphagia, Intrauterine growth ret... OMIM:618253
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Hypoglycemia, Feeding difficulties OMIM:618241
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions OMIM:602248
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Ketotic hypoglycemia, Postnatal growth retardation, Splenomegaly, Di... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 7
Paralytic ileus, Failure to thrive, Dysphagia OMIM:613559
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Hypoglycemia OMIM:201910
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi... ORPHA:440437
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Vomiting, Macrovesicular hepatic s... OMIM:600649
Blue Diaper Syndrome
Diarrhea, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Cryptorchidi... ORPHA:813
Maple Syrup Urine Disease
Feeding difficulties in infancy, Vomiting, Pancreatitis, Hypoglycemia OMIM:248600
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Malabsorption, Hypersplenism, Anorexia, Diarrhe... ORPHA:98850
Porphyria, Acute Intermittent
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Constipation, Vomiting, Hep... OMIM:176000
Silver-Russell Syndrome 1
Small for gestational age, Decreased response to growth hormone stimulation test, Testicular semi... OMIM:180860
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Feeding difficulties in infancy, Acute hepatic steatosis, Vomiting, Failure to thrive OMIM:210200
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Short stature, Hypoglycemia ORPHA:48431
Glycogen Storage Disease Ia
Abnormal bleeding, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinoma, Growth de... OMIM:232200
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Short stature, Hypoglycemia, Malabsorption, Chronic diarrhea, High palate, Recurren... OMIM:233600
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... ORPHA:424019
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... ORPHA:853
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Abnormal posturing OMIM:304700
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Nausea and vomiting, Orthostatic hypotension, Hypoglycemia, Anorexia, Abdomin... ORPHA:199299
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Failure to thrive, Intestinal obstruction, Chronic diarrhea OMIM:600802
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Classic Galactosemia
Hepatomegaly, Hypoglycemia, Cryptorchidism, Diarrhea, Jaundice, Feeding difficulties, Vomiting, D... ORPHA:79239
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Moderate Hemophilia A
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Frequent Giardia lamblia infestation, Hypoglycemia, Decreased response to growt... OMIM:615577
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hypoglycemia, Growth delay, Vomiting, Hyperglycemia, Failure to thrive OMIM:615453
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy, Hepati... ORPHA:156
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Short stature, Hypoglycemia, Sudden cardiac death, Intrahepatic choles... OMIM:614921
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Feeding diff... OMIM:606407
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal growth retardation, Type I ... OMIM:616113
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla... OMIM:615935
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Pericarditis, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Peritonit... ORPHA:32960
Glycogen Storage Disease Ib
Hepatomegaly, Short stature, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenom... OMIM:232220
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Feeding difficulties ORPHA:3006
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypoglycemia, Anterior pituitary hypoplasia, Postnatal growth retardat... ORPHA:453533
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Short stature, Hypoglycemia, Cryptorchidism, Delayed puberty, Failur... ORPHA:95496
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Short stature, Hypoglycemia OMIM:618120
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Biliary cirrhosis, Hepatosplenome... OMIM:219700
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... OMIM:202400
Hypoadrenocorticism, Familial
Feeding difficulties in infancy, Vomiting, Hypoglycemia OMIM:240200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension, Feeding difficulties in infan... OMIM:251880
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Malnutrition, Insulin-dependent but ketos... ORPHA:103918
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Malabsorption, Feeding difficulties in infancy, A... ORPHA:3463
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Vomiting, Hepatic steatosis, Hypoglycemia OMIM:201450
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia, Feeding difficulties ORPHA:79096
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Small for gestational age, Postnatal growth retardation, Intrahepatic cholestasis, ... OMIM:617093
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Poor appetite, Abdominal pain... ORPHA:319218
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Abdominal pain, Splenomegaly, Congestive heart failure, Chronic diarrhea, Dilated c... OMIM:615895
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia, Feeding difficulties OMIM:614739
Hemophilia B
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma OMIM:306900
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia, Abdominal distention, Feeding difficulties, Gastroesophageal reflux, Intrauterine g... OMIM:620275
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Feeding difficulties in infancy, Splenomegaly, Cardiomyopathy, Failure to thrive, Neonatal hypogl... OMIM:619046
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia, Small for gestational age, Proportionate short stature, Severe p... ORPHA:391408
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:300438
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Jaundice, Prolonged prothrombin time, Cirrhosis, Hepatic failure OMIM:617049
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me... ORPHA:99147
Laron Syndrome
Truncal obesity, Severe short stature, Hypoglycemia, Delayed puberty ORPHA:633
Spinocerebellar Ataxia Type 13
Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Bradykinesia, Titubat... ORPHA:98768
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Splenomegaly, Vasculi... ORPHA:91138
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prem... OMIM:212138
Porphyria Variegata
Tachycardia, Abdominal pain, Ileus, Hypertension, Abnormality of the liver, Constipation, Hepatoc... ORPHA:79473
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Hepatomegaly, Abnormal EK... ORPHA:85443
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cholecystitis, Intestina... ORPHA:774
Zygomycosis
Unusual gastrointestinal infection, Colitis, Vomiting, Nausea, Abdominal pain, Hepatitis, Hematoc... ORPHA:73263
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance, Short stature, Anal atresia OMIM:309620
D-Glyceric Aciduria
Hypoglycemia, Growth delay, Gastroesophageal reflux, Bradycardia, Failure to thrive OMIM:220120
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Short stature, Hypoglycemia, Feeding difficulties, Posterior pituita... OMIM:613986
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Growth delay, High, narrow palate, Ileus, High palate OMIM:620156
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... ORPHA:96182
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Abdom... ORPHA:2137
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Hypoglycemic seizures, Inflammation of the large intestin... ORPHA:79259
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Small for gestational age, Intraventricular hemorrhage, Feeding difficulties, Prolo... OMIM:619055
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Microvesicular hepati... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Neonatal death, Intrauterine growth retardation, Hypertro... OMIM:618835
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Celiac disease, Hepatosplenomegaly, Abnormal intestine morphology, Delayed puberty... OMIM:615952
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Cardiomyopathy, Decreased liver function, Neonatal death, Intrauterine growth retar... OMIM:618839
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:618905
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Short stature, Hypoglycemia, Large for gestational age, Glycosuria OMIM:616026
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Feeding difficulties OMIM:616095
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Volvulus, Gastrointestinal infarctions ORPHA:1059
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Large for gestational age, Cryptorchidism, Protuberant abdomen, Intestinal p... ORPHA:457485
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Small for gestational age, Overweight, Jaundice... ORPHA:26793
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Cerebral ischemia, Budd-Chiari sy... OMIM:263300
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... OMIM:256810
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Combined Oxidative Phosphorylation Defect Type 7
Paralytic ileus, Failure to thrive, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia ORPHA:254930
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroparesis, Impaired glucose tolerance, Left bundle branch block, Glucose intolerance, Abnorma... OMIM:610131
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia OMIM:618182
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Chronic diarrhea, Chronic constipation... OMIM:142680
Fanconi-Bickel Syndrome
Hepatomegaly, Poor appetite, Malabsorption, Postnatal growth retardation, Intrahepatic cholestasi... OMIM:227810
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyper... OMIM:609069
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges... ORPHA:727
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Hypoglycemia, Reye syndrome-like episodes, Diarrhea, Vomiting, Fasting... ORPHA:348
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age, Feeding difficulties in infancy, Cryptorchidism, High pa... OMIM:619075
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Small for gestational age, Cryptorchidism, Growth delay, Recurrent hypoglycemia, D... OMIM:616817
Pancreatitis, Hereditary
Diabetes mellitus, Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, ... OMIM:167800
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Short stature, Hypoglycemia, Protruding tongue, Splenomegaly, Jaundice, Congestive ... OMIM:608779
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pulmonary embolism, Congestiv... ORPHA:90308
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Reye syndrome-like episodes, Congestive heart fai... ORPHA:26791
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Diarrhea, Feeding difficulties, Arrhythmia, Hepatic steatosis, Hypoketotic hypoglyc... OMIM:255120
Smith-Kingsmore Syndrome
Rhizomelia, Hypoglycemia, Large for gestational age, Cryptorchidism, Feeding difficulties OMIM:616638
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Short stature, Angina pectoris, Abnormal large intestine morphology, Hypogl... ORPHA:109
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Vomiting, Glycosuria, Neonatal death, Hepatic periportal ne... OMIM:231680
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Hypoglycemia, Dysphagia ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart failure, Dilated cardiomyopathy,... OMIM:611126
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Feeding difficulties, Vomiting, Intrauterine growt... ORPHA:2609
Tenorio Syndrome
Hypoglycemia, Raynaud phenomenon, Macroglossia, Syncope, Gastroesophageal reflux, Recurrent aphth... OMIM:616260
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Diarrhea, Weight loss, Hypertension, Vomiting, Hypotension,... ORPHA:134
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Vomiting, Hypoglycemia OMIM:246450
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Abdominal pain, Jaundice, Malnutrition, ... OMIM:229600
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Short stature, Feeding difficulties, High palate, Intrauterine growth retardation, ... OMIM:618005
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Congestive heart failure, Dilated cardiomyopathy, Cholestasis, Feeding... OMIM:609015
Basilicata-Akhtar Syndrome
Chronic constipation, Gastroesophageal reflux, Neonatal hypoglycemia, Feeding difficulties OMIM:301032
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility ORPHA:230839
Acth Deficiency, Isolated
Cholestasis, Jaundice, Fasting hypoglycemia, Adrenocorticotropic hormone deficiency OMIM:201400
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Hypoglyc... ORPHA:361
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Abdominal pain, Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insuffic... OMIM:609812
Acute Intermittent Porphyria
Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperten... ORPHA:79276
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Short stature, Large for gestational a... ORPHA:363705
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Nonketotic hypoglycemia, Sudden cardiac death, Congestive heart failure, C... ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Hypoglycemia, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurg... OMIM:620300
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Anorexia, Malabsorption, Splenomegaly, Diar... ORPHA:33226
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Feeding difficulties, Hypoglycemia, Cardiomyopathy OMIM:617710
Perlman Syndrome
Distal ileal atresia, Hypoglycemia, Large for gestational age, Cryptorchidism, Pancreatic islet-c... OMIM:267000
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Failure to thrive, Hypoglycemia OMIM:614736
Pituitary Hormone Deficiency, Combined, 2
Short stature, Reduced circulating prolactin concentration, Hypoglycemic seizures, Panhypopituita... OMIM:262600
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Hepatoblastoma, Spider hemangioma, Hepatocellular carcinoma, Chronic ... OMIM:232240
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular... ORPHA:100080
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Feeding difficulties i... ORPHA:746
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Intestinal malrotation, Portal hypertension, Hypoglycemia, Small for gestational a... OMIM:613658
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Hepat... ORPHA:100075
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... ORPHA:537
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Feeding difficulties in infancy, Diarrhea, D... OMIM:608836
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Arrhythmi... ORPHA:163746
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Feeding difficulties, Prolonged prothrombin time, Bile duct proliferation, Macroves... OMIM:618329
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Diarrhea, Insulin resistance, Hyperinsulinem... ORPHA:230
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ... OMIM:617718
Addison Disease
Hypoparathyroidism, Nausea and vomiting, Orthostatic hypotension, Primary testicular failure, Hyp... ORPHA:85138
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... ORPHA:974
Leprechaunism
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Abdominal distention, Rectal prolap... ORPHA:508
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:187900
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirrhosis, Punctate vasculitis skin... OMIM:192315
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia... OMIM:601005
Rabson-Mendenhall Syndrome
Enlarged ovaries, Short stature, Impaired glucose tolerance, Insulin resistance, Fasting hyperins... ORPHA:769
Sheehan Syndrome
Orthostatic hypotension, Hypoglycemia, Reduced circulating prolactin concentration, Poor appetite... ORPHA:91355
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia OMIM:618838
Congenital Isolated Acth Deficiency
Hepatitis, Hypoglycemic seizures, Hypotension, Prolonged neonatal jaundice, Neonatal hypoglycemia ORPHA:199296
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrh... ORPHA:457279
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Congestive heart fai... OMIM:617156
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pericarditis, Gastritis, Sple... ORPHA:809
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Neonatal hypoglycemia, Slender build, Pulmonic stenosis OMIM:617600
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Hypoglycemia, Small for gestational age, Cryptorchidism, Feeding difficulties, Failur... OMIM:607143
Deeah Syndrome
Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu... OMIM:619004
Hereditary Fructose Intolerance
Hepatomegaly, Abdominal pain, Reactive hypoglycemia, Abdominal distention, Diarrhea, Jaundice, Gr... ORPHA:469
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Intracranial hemorrhage, Oral cavity bleeding, ... ORPHA:324636
Osteogenesis Imperfecta
Aortic regurgitation, Intestinal obstruction, Rhizomelia, Short stature, Cerebral hemorrhage, Sma... ORPHA:666
Blue Rubber Bleb Nevus
Rectal prolapse, Abnormality of the liver, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Cystic Fibrosis
Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastroesophageal reflux... ORPHA:586
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Myocardial infarction, S... ORPHA:36426
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... OMIM:175200
Poliomyelitis
Anorexia, Paralytic ileus, Hypertension, Hypovolemic shock, Vomiting, Hypotension, Dysphagia, Nausea ORPHA:2912
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate ORPHA:1848
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Short-segment aganglionic megacolon, Portal hypertension, Cryptorchidism, ... OMIM:609136
20Q13.33 Microdeletion Syndrome
Hematochezia, Growth delay, Small for gestational age, Failure to thrive in infancy ORPHA:261311
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Glycerol Kinase Deficiency
Short stature, Hypoglycemia, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Gro... OMIM:307030
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Episodic abdominal pain, Cardiomyopathy, Arrhythmia, Hepatic failure, Hepatic steat... ORPHA:228305
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Hypoglycemia, Malabsorption, Feeding difficulti... ORPHA:565
Sotos Syndrome
High, narrow palate, Cryptorchidism, Increased body weight, Narrow palate, Feeding difficulties, ... OMIM:117550
Cholera
Tachycardia, Hypoglycemia, Achlorhydria, Abdominal pain, Diarrhea, Hypovolemic shock, Vomiting, A... ORPHA:173
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia, Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Hypoglycemia OMIM:229700
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Hypoglycemia, Feeding difficulties in infancy, Gastrointesti... ORPHA:480864
Celiac Disease, Susceptibility To, 1
Short stature, Abdominal pain, Celiac disease, Postnatal growth retardation, Diarrhea, Abdominal ... OMIM:212750
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Pituitary adenoma,... ORPHA:99818
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Anorexia, Reye syndrom... ORPHA:20
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H... ORPHA:137675
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Failure to thrive OMIM:202200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Hypoglycemia, Jaundice, Vomiting, Macroorchidism, Failure to thrive ORPHA:90790
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Abnormality of the gastrointestinal tract, Pericard... ORPHA:91139
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to growth horm... ORPHA:90695
Kabuki Syndrome 2
Short stature, Postnatal growth retardation, Feeding difficulties in infancy, Cleft palate, High ... OMIM:300867
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Combined Oxidative Phosphorylation Defect Type 39
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Cryptorchidism, Vomiting, B... ORPHA:565624
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Vomiting, Hypoglycemia, Feeding difficulties OMIM:210210
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Ectopic posterior pituitary, Hypoglycemia, Decreased response to growth hormo... ORPHA:226307
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Glutaric Acidemia I
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:231670
Acute Adrenal Insufficiency
Nausea and vomiting, Orthostatic hypotension, Hypoglycemia, Anorexia, Myocardial infarction, Abdo... ORPHA:95409
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... OMIM:177850
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, High p... OMIM:223360
Pituitary Apoplexy
Nausea and vomiting, Hypoglycemia, Decreased response to growth hormone stimulation test, Elevate... ORPHA:95613
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Hematemesis, Splenomegaly, Diarrhea, Vasculitis, Hepatitis, Blo... OMIM:615846
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Postnatal growth retardation... OMIM:616263
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Hypotension, Fasting hypoglycemia, Arrhyth... ORPHA:159
Glucocorticoid Resistance, Generalized
Hypertension, Hypoglycemia OMIM:615962
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Failure to thrive, Postnatal growth retardation, Jaundice, Ch... ORPHA:79303
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia, Small for gestational age, Feeding difficulties, Macroglossia, High palate, Aortic ... OMIM:614501
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... ORPHA:79430
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Cardiac arrest, Oral-pharyngeal dysphagia, Ventricular tachycardia, Torsade de poin... OMIM:616878
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Petechiae OMIM:603909
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing OMIM:614857
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Rhizomelia, Congestive heart failure, Feeding difficulties, Growth delay, Prol... OMIM:616271
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Decreased response to growth hormone stimulation test, Telangiectasia of the skin,... OMIM:616007
Marburg Hemorrhagic Fever
Anorexia, Odynophagia, Bloody diarrhea, Vomiting, Internal hemorrhage, Nausea, Abnormal bleeding,... ORPHA:99826
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia, Feeding difficulties in infancy, Congestive heart failure, Intrauterine growth reta... OMIM:619355
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Multiple Osteochondromas
Hemothorax, Intestinal obstruction, Short stature, Dysphagia ORPHA:321
Shashi-Pena Syndrome
Feeding difficulties in infancy, Intrauterine growth retardation, Hypoglycemia OMIM:617190
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Nodular regenerative hyperplasia of liver, Raynaud phenomenon, Punct... ORPHA:247691
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Hypoglycemia, Diarrhea, Jaundice, Hepatiti... ORPHA:90062
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Anorexia, Pulmonary embolism, Esophageal varix, Intrac... ORPHA:394
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Feeding difficulties, Growth delay, Bradycardia, Dysphagia, Neonatal death, Failure to ... OMIM:617248
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... OMIM:263200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, Feeding ... ORPHA:79282
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Elevated circulating growth hormone conc... ORPHA:2796
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Colitis, Esophageal stenosis OMIM:615190
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic const... OMIM:619575
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Behçet Disease
Gastrointestinal hemorrhage, Aortic regurgitation, Nausea and vomiting, Pericarditis, Myocardial ... ORPHA:117
Leigh Syndrome
Failure to thrive, Hypoglycemia, Congestive heart failure, Gastrointestinal dysmotility, Feeding ... ORPHA:506
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropathy OMIM:618183
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Hypoglycemia, Feeding difficulties, Growth delay, Gastroesophageal reflux, Vomiting... ORPHA:17
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Adrenocorticotropic hormone excess, Vomiting, Hypotension, Failure to thrive, Con... ORPHA:90791
3-Methylglutaconic Aciduria Type 7
Feeding difficulties, Growth delay, Cardiomyopathy, Hepatic steatosis, Neonatal hypoglycemia ORPHA:445038
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased mitochondrial complex III activity in liver tissue, Hypoglycemia, Cholangitis, Feeding ... OMIM:124000
Reni Syndrome
Cryptorchidism, Hypoglycemia OMIM:617575
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Neonatal hypoglycemia, High palate, Short stature ORPHA:35173
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Dilated cardio... ORPHA:66634
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
Holoprosencephaly
Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Feeding difficulties in infancy, C... ORPHA:2162
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Abnormal bleeding, Hepato... ORPHA:480520
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage, Feeding difficulties, Fasting hypoglycemia, Dysphagia ORPHA:25
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal bleeding, Failure to thrive in infancy, Poor ... ORPHA:247598
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Obesity, Cleft palate, Hepatosplenomegaly, Chronic constipation, Chol... OMIM:301066
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, High palate, Dysphagia, Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:572798
Alg12-Cdg
Intestinal malrotation, Cryptorchidism, Feeding difficulties, Prolonged prothrombin time, Recurre... ORPHA:79324
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Growth delay, Vomiting, Hyperglycemia, Failure to thrive ORPHA:3008
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased resp... ORPHA:95494
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia, Feeding difficulties in infancy, Splenomegaly, Con... OMIM:252010
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... ORPHA:424016
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Episodic vomiting, Hypoglycemia OMIM:615751
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... OMIM:301068
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal reflux, Hypoplasia of the th... ORPHA:567
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Biliary ci... OMIM:613471
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Heart block, High, narrow palate, Hepatic calcification, Feeding difficulties, Card... ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, High palate, Hypoglycemia OMIM:620224
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Large for gestational age, Feeding difficulties in infancy, Cryptorch... ORPHA:116
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Orchitis, Vasculitis,... ORPHA:761
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Hypovolemia, Adrenocorticotropic ... ORPHA:168558
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Episodic abdominal pain, Cardiomyopathy, Arrhythmia, Hepatic... ORPHA:157
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Hypovolemia, Adrenocorticotropic ... ORPHA:289548
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Neonatal hypoglycemia ORPHA:447788
Acute Transverse Myelitis
Orthostatic hypotension, Gastroparesis, Subarachnoid hemorrhage, Paralytic ileus, Hypertension, C... ORPHA:139417
Neurooculorenal Syndrome
Ectopic posterior pituitary, Intestinal malrotation, Postnatal growth retardation, Cryptorchidism... OMIM:620305
Myasthenic Syndrome, Congenital, 21, Presynaptic
Meconium ileus, Feeding difficulties OMIM:617239
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Int... ORPHA:99827
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age, Microvesicular hepatic steatosis, Feeding difficulties, ... OMIM:220111
Oculodentodigital Dysplasia
Arrhythmia, Hypoglycemia, Cleft palate ORPHA:2710
Costello Syndrome
Short stature, Hypoglycemia, Pyloric stenosis, Macroglossia, Hypertrophic cardiomyopathy, High pa... OMIM:218040
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Hepatomegaly, Bundle branch block, Hypoglycemia, Supernumerary nipple, Hig... ORPHA:373
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival bleeding ORPHA:98870
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Abnormal size of pituitary gland, Recurren... ORPHA:293978
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Abdominal pain, Hematemesis, Diarrhea, Internal hemorrhage, Capill... ORPHA:340
Generalized Glucocorticoid Resistance Syndrome
Hypertension, Adrenal hyperplasia, Hypoglycemia ORPHA:786
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ectopic posterior pituitary... ORPHA:508488
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Retinal telangiectasia, Postnatal growth retardation, Intestinal bleeding, Intraut... OMIM:612199
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy, Hepatoblastom... OMIM:130650
Yellow Fever
Abnormal bleeding, Shock, Acute pancreatitis, Supraventricular arrhythmia, Abdominal pain, Hemate... ORPHA:99829
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture OMIM:225400
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss, Hypoglycemia, Glycosuria ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Short stature, Hypovolemia, Testicular adrenal rest tumor, Feeding difficulties, Weight lo... ORPHA:90794
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... ORPHA:261584
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Ulcerative colitis, ... OMIM:301000
Rift Valley Fever
Abnormal bleeding, Anorexia, Hematemesis, Jaundice, Hepatitis, Retinal hemorrhage, Melena, Gingiv... ORPHA:319251
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, High palate, Neonatal hypoglycemia, Large for gestational age ORPHA:457359
Holoprosencephaly 1
Short stature, Hypoglycemia, Median cleft lip and palate OMIM:236100
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abdominal pain ORPHA:538
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma... ORPHA:252183
Plague
Abnormal bleeding, Hepatomegaly, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly... ORPHA:707
Vici Syndrome
Abnormal posturing OMIM:242840
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypoglycemia, Small for gestational age, Cryptorchidism, Polycystic ovaries, Anteriorly placed an... OMIM:201750
Mucoepithelial Dysplasia, Hereditary
Melena, Chronic diarrhea, Corneal neovascularization, Furrowed tongue OMIM:158310
Sotos Syndrome
Aganglionic megacolon, Cryptorchidism, Feeding difficulties, Hydrocele testis, Constipation, Gast... ORPHA:821

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 Vipr1

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 Vipr1.

No publications found that use IMPC mice or data for Vipr1.

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
Vipr1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Vipr1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Vipr1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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