Gene Summary

Name:
cholecystokinin B receptor
Synonyms:
CCK-B/gastrin receptor,  CCK2R,  CCKR-2,  CCK2/gastrin

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal autopod morphology Cckbrem1(IMPC)H HOM Early adult 2.89×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Human diseases caused by Cckbr 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 Cckbr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Peritonitis, Elevated hepatic iron conc... ORPHA:139507
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Aceruloplasminemia
Dystonia, Aceruloplasminemia, Elevated hepatic iron concentration, Torticollis, Chorea, Apathy, D... ORPHA:48818
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus, Polydipsia, Fever, Anxiety, Diarrhea, Depression, Lethargy ORPHA:178029
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Vomiting, Polydipsia, Fever, Irritability, Diarrhea, Lethargy ORPHA:30925
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Visceral Myopathy 2
Dysphagia, Intestinal pseudo-obstruction, Esophagitis, Gastroparesis, Intestinal obstruction, Ine... OMIM:619350
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Huntington Disease
Gait disturbance, Dystonia, Gait imbalance, Abnormal circulating cholesterol concentration, Polyp... ORPHA:399
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh... OMIM:616860
Porphyria Cutanea Tarda
Viral hepatitis, Increased serum iron, Increased fecal porphyrin, Hepatocellular carcinoma, Eleva... ORPHA:101330
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Increased circu... ORPHA:53693
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal pain, Malnutrition, Abdominal distention, Gastroparesis OMIM:277320
Ménétrier Disease
Hypoproteinemia, Stomach cancer, Abnormal gastric mucosa morphology, Helicobacter pylori infectio... ORPHA:2494
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Fever, Abnormality of the liver, Conjugated hyp... ORPHA:234
Immunodeficiency 8
Hyperactivity OMIM:615401
Obesity
Decreased resting energy expenditure OMIM:601665
Immunodeficiency 77
Gastroparesis OMIM:619223
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Adrenal insufficiency, Elevated hepatic i... ORPHA:300298
Beta-Thalassemia Intermedia
Hepatomegaly, Abnormality of iron homeostasis, Adrenal insufficiency, Hypoparathyroidism, Elevate... ORPHA:231222
Cystinosis
Gait disturbance, Vomiting, Hypokalemia, Polydipsia, Hypophosphatemia, Malabsorption, Fever, Neph... ORPHA:213
Pick Disease Of Brain
Polyphagia, Apathy, Inappropriate laughter, Emotional blunting, Irritability, Diminished motivati... OMIM:172700
Reynolds Syndrome
Keratoconjunctivitis sicca, Hepatomegaly, Dysphagia, Infectious encephalitis, Abnormal gastric mu... ORPHA:779
Frontotemporal Dementia
Polyphagia, Apathy, Inappropriate laughter, Inappropriate sexual behavior, Irritability, Diminish... OMIM:600274
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Diabetes mellitus, Polydipsia OMIM:222100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Polyphagia, Focal pancreatic islet hyperplasia, Excessive insulin response to gluca... ORPHA:276575
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Vomiting, Gastrointestinal dysmotility, Gastroparesis, Intermittent diarrhea, Malnutrition, Abdom... OMIM:603041
Whipple Disease
Myocarditis, Hyponatremia, Hepatomegaly, Infectious encephalitis, Pericarditis, Polydipsia, Myosi... ORPHA:3452
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Feeding difficulties in infancy, Central adrenal insufficiency, Polyphagi... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Feeding difficulties in infancy, Central adrenal insufficiency, Polyphagi... ORPHA:98793
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Unexplained fevers, Diabetes insipidus, Vomiting, Hypernatremia, Polydipsia, Irritability, Consti... OMIM:304800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Feeding difficulties in infancy, Central adrenal insufficiency, Polyphagi... ORPHA:177904
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Unexplained fevers, Vomiting, Hypernatremia, Polydipsia, Irritability, Nephrogenic diabetes insip... OMIM:125800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Feeding difficulties in infancy, Central adrenal insufficiency, Polyphagi... ORPHA:177901
Visceral Myopathy 1
Dysphagia, Vomiting, Intestinal pseudo-obstruction, Abdominal distention, Gastroparesis, Malnutri... OMIM:155310
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Polyphagia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Maternal diabetes, Polyphagia, Excessive insulin response to glucagon test, Maturit... ORPHA:324575
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Dystonia 12
Dystonia, Dysphagia, Torticollis, Bradykinesia, Fever, Emotional lability, Unsteady gait, Anxiety... OMIM:128235
Nephronophthisis-Like Nephropathy 2
Recurrent fever, Elevated circulating creatinine concentration, Polydipsia, Bronchiectasis OMIM:619468
Oculogastrointestinal Muscular Dystrophy
Abdominal distention, Gastroparesis, Intestinal pseudo-obstruction ORPHA:1876
Prader-Willi-Like Syndrome
Central hypothyroidism, Feeding difficulties in infancy, Central adrenal insufficiency, Polyphagi... ORPHA:398073
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Polyphagia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... ORPHA:276556
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Hyperbilirubinemia, Gonadotropin deficiency, Adrenal hypoplasi... OMIM:609734
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Vomiting, Polyphagia, Xerostomia, Prematur... ORPHA:739
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia ORPHA:71529
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Paresthesia, Polyphagia, Hyperinsulinemic... ORPHA:97279
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Polyphagia, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... ORPHA:263665
East Syndrome
Hypokalemia, Polydipsia, Salt craving, Hypomagnesemia, Ataxia, Inability to walk, Hyperaldosteron... ORPHA:199343
Pediatric-Onset Graves Disease
Mood swings, Hepatomegaly, Increased circulating T4 level, Episcleritis, Polydipsia, Polyphagia, ... ORPHA:525731
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroesophageal reflux, Gastroparesis, Constipation OMIM:610131
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Recurrent pneumonia, Decreased serum leptin OMIM:614962
Huntington Disease-Like 2
Weight loss, Apathy, Irritability, Action tremor, Anxiety, Depression OMIM:606438
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Polyphagia ORPHA:329249
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypokalemia, Polydipsia, Nausea, Abnormal circulating renin, Secretory adren... ORPHA:403
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Familial Cold Urticaria
Polydipsia, Arthritis, Fever, Dysesthesia, Conjunctivitis ORPHA:47045
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Dysphagia, Gastroparesis, Hypergonadotropic hypogonadism OMIM:157640
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Proximal Spinal Muscular Atrophy
Dysphagia, Gastroparesis, Poor suck, Gastroesophageal reflux, Constipation ORPHA:70
Young-Onset Parkinson Disease
Diarrhea, Gastroparesis, Constipation, Nausea ORPHA:2828
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Polyphagia, Pituitary hypothyroidism, Gonadotropin deficiency, Hyp... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Polyphagia, Pituitary hypothyroidism, Gonadotropin deficiency, Hyp... ORPHA:71526
Phenylketonuria
Eczema, Maternal hyperphenylalaninemia, Aggressive behavior, Self-mutilation, Hyperphenylalaninem... OMIM:261600
Glycine Encephalopathy
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Graves Disease, Susceptibility To, 1
Goiter, Polyphagia, Hyperactivity, Irritability, Graves disease OMIM:275000
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Leptin Receptor Deficiency
Polyphagia, Aggressive behavior, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mel... OMIM:614963
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Hyperinsulinemia, Polyphagia ORPHA:369873
Gitelman Syndrome
Recurrent fever, Paresthesia, Hypokalemia, Polydipsia, Vomiting, Salt craving, Hypomagnesemia, At... OMIM:263800
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bowel incontinence, Gastroparesis OMIM:618877
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Early-Onset Schizophrenia
Unhappy demeanor, Polyphagia, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotio... ORPHA:96369
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Esophageal varix, Polydipsia, Hepatic fibrosis, Congeni... ORPHA:84081
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Polyphagia, Self-injurious behavior, Hyperactivity, Ataxia, Consti... ORPHA:228402
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Tremor, Resting tremor, Irritability... ORPHA:3077
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Hypokalemia, Polydipsia OMIM:304900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Adrenal hyperplasia, Hypokalemia, Polydipsia, Nausea, Abnormal circulating renin, Hype... ORPHA:369929
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Intestinal pseudo-obstruction OMIM:607459
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gastroparesis, Intestinal pseudo-obstruction ORPHA:70595
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Polydipsia, Salt craving, Hypomagnesemia, Ataxia, Dysdiadochokinesis, Hyperaldostero... OMIM:612780
Al Amyloidosis
Dysphagia, Xerostomia, Abdominal distention, Gastroparesis, Gastrointestinal hemorrhage ORPHA:85443
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypokalemia, Polydipsia, Nausea, Abnormal circulating renin, Glucocortocoid-... ORPHA:251274
Autosomal Dominant Progressive External Ophthalmoplegia
Dysphagia, Goiter, Gastroparesis, Hyperthyroidism, Diabetes mellitus, Hypothyroidism, Gastroesoph... ORPHA:254892
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Irritability, Emotio... ORPHA:66624
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Impulsivity, Anxiety, Gastroesophageal reflux, Constipation OMIM:616977
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Self-injurious behavior, Premature adrenarche, Abnormality of the hypothalamus-pi... ORPHA:293987
Citrullinemia Type Ii
Hyperlipidemia, Irritability, Diarrhea, Lethargy, Decreased HDL cholesterol concentration, Hepati... ORPHA:247585
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... OMIM:613313
Mgat2-Cdg
Feeding difficulties, Abnormality of the endocrine system, Gastrostomy tube feeding in infancy, G... ORPHA:79329
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Panhypophysitis
Hyponatremia, Increased circulating prolactin concentration, Polydipsia, Nausea, Decreased serum ... ORPHA:95513
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Nephrogenic Diabetes Insipidus
Hypernatremia, Polydipsia, Fever, Nephrogenic diabetes insipidus, Constipation ORPHA:223
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Hemochromatosis, Type 2A
Increased serum iron, Hepatomegaly, Hypogonadotropic hypogonadism, Arthritis, Splenomegaly, Cirrh... OMIM:602390
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hypercalcemia, Hepatomegaly, Calcinosis, Polydips... OMIM:239200
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Polydipsia, Nausea, Glucocor... ORPHA:231580
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration, Congenital hepatic fibrosis, ... ORPHA:446
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate, Cho... OMIM:603358
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Polydipsia, Hyperaldosteronism OMIM:613677
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Systemic Sclerosis
Dysphagia, Gastroparesis, Intestinal bleeding, Bowel incontinence, Gastroesophageal reflux ORPHA:90291
Aceruloplasminemia
Aceruloplasminemia, Torticollis, Chorea, Decreased serum iron, Increased circulating ferritin con... OMIM:604290
Schaaf-Yang Syndrome
Polyphagia, Hypogonadism, Inability to walk, Impulsivity, Gastroesophageal reflux, Constipation OMIM:615547
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Abnormality of temp... ORPHA:848
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Paresthesia, Hyp... ORPHA:79444
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... ORPHA:465508
Angelman Syndrome
Dysphagia, Precocious puberty in females, Happy demeanor, Polyphagia, Vomiting, Self-injurious be... ORPHA:72
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, High palate, Elevated hepatic iron concentration, Seborrheic dermatitis, Cirrhosis OMIM:300868
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Juvenile Huntington Disease
Dystonia, Chorea, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritabilit... ORPHA:248111
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Polyphagia... OMIM:606407
Trisomy 18P
Pyloric stenosis, High, narrow palate, Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Dysphagia, Impaired pain sensation, Chorea, Aggressive behavior, Hyperactivity, Inabili... ORPHA:500180
Helix Syndrome
Heat intolerance, Hypokalemia, Polydipsia, Xerostomia, Hyperparathyroidism, Hypermagnesemia OMIM:617671
Wolfram Syndrome
Gastric ulcer, Polydipsia, Abnormality of mesentery morphology, Diabetes insipidus, Malabsorption... ORPHA:3463
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Polyphagia OMIM:248100
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level, Polydips... ORPHA:320
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Gastroparesis OMIM:614052
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Hypercalcemia, Dysphagia, Thyroid carcinoma, Cons... ORPHA:99880
Temple Syndrome
Type II diabetes mellitus, Polyphagia, Bifid uvula, Decreased response to growth hormone stimulat... ORPHA:254516
Bronchogenic Cyst
Dysphagia, Paresthesia, Pneumonia, Abnormality of the peritoneum, Abnormal stomach morphology, Fe... ORPHA:2357
Hemochromatosis, Type 4
Hepatomegaly, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin concentr... OMIM:606069
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, High palate, Ataxia OMIM:300983
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Polydipsia, Aplasia/Hypoplasia of... ORPHA:93111
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Hyperactivity, Ataxia, Transient hyperphenylalani... OMIM:612716
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Hypercalcemia, Dysphagia, Thyroid carcinoma, Para... ORPHA:143
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Feeding difficulties in infancy, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Nas... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Feeding difficulties in infancy, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Nas... ORPHA:352665
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Paresthesia, Hyp... ORPHA:79443
Hemochromatosis, Type 3
Increased serum iron, Hypogonadotropic hypogonadism, Elevated transferrin saturation, Arthritis, ... OMIM:604250
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Gait disturbance, Decreased circulating ferritin concentration, Dystonia, Hepatomegaly, Esophagea... ORPHA:309854
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Bipolar affective disorder OMIM:615538
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Septo-Optic Dysplasia Spectrum
Cleft palate, Maternal diabetes, Diabetes insipidus, Polydipsia, Abnormality of the hypothalamus-... ORPHA:3157
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Abnormal circulating creatine concentration, Aganglionic megacolon, Chorea, ... ORPHA:52503
Rabson-Mendenhall Syndrome
Increased serum testosterone level, High palate, Hypokalemia, Polydipsia, Macroglossia, Insulin-r... ORPHA:769
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Elevated circulating gamma-aminobuty... OMIM:271980
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Intesti... OMIM:615710
Coffin-Siris Syndrome 8
Aggressive behavior, Hyperactivity, Eczema, Self-injurious behavior OMIM:618362
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Hyperbilirubinemia, Gastric varix, Splenomegaly, Nodu... ORPHA:64743
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestinal malrotatio... OMIM:601346
6Q16 Microdeletion Syndrome
Broad-based gait, Polyphagia ORPHA:171829
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal fear/anxiety-related behavior, Nausea, Apathy, Increased fecal coproporphy... ORPHA:100924
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... ORPHA:731
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Dysphagia, Decreased serum zinc, Decreased serum iron, Depression, Abnormal circ... ORPHA:89842
Magel2-Related Prader-Willi-Like Syndrome
Chronic constipation, Skin-picking, Central hypothyroidism, Type II diabetes mellitus, Impaired t... ORPHA:398069
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Recurrent otitis media, Decreased serum iron, Recurrent skin infections, Diabetes mellitus, Hypot... ORPHA:391372
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Polyphagia, Increased blood urea nitrogen, Membranoproliferative glomerulonephriti... ORPHA:251004
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Chorea, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivit... ORPHA:485350
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Occipital Horn Syndrome
Abnormal esophagus physiology, Dysphagia, Esophagitis, Gastroparesis, Poor suck, Gastroesophageal... ORPHA:198
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Colitis, Hepatitis, Decreased serum iron, Cirrhosis, Diarrhea OMIM:614602
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Incr... OMIM:616278
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Decreased prealbumin level, ... ORPHA:37042
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Choking episodes, Temperature instability, Hyperactivity, Ataxia, Emo... ORPHA:35069
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Brain-Lung-Thyroid Syndrome
Dystonia, Hypoparathyroidism, Abnormal drinking behavior, Unexplained fevers, Congenital hypothyr... ORPHA:209905
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Vomiting, Nausea, Insulin-dependent but k... ORPHA:103918
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Paresthesia, Hypokalemia, Polydipsia, Increased serum prost... OMIM:241200
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Polyphagia,... ORPHA:300373
Sim1-Related Prader-Willi-Like Syndrome
Skin-picking, Central hypothyroidism, Impaired temperature sensation, Type II diabetes mellitus, ... ORPHA:398079
Scleroderma
Myocarditis, Pericarditis, Episcleritis, Abnormality of the small intestine, Abnormal large intes... ORPHA:801
Acute Transverse Myelitis
Paralytic ileus, Gastroparesis, Constipation ORPHA:139417
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Cirrhosis, Hyperactivity, Ataxia, Hepatic steatosis, Hypertriglyceridemia, Gait ata... ORPHA:363400
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Diabetes mellitus, Ex... OMIM:167800
Gitelman Syndrome
Tubulointerstitial nephritis, Paresthesia, Type I diabetes mellitus, Parathyroid adenoma, Diarrhe... ORPHA:358
Dominant Beta-Thalassemia
Recurrent fever, Abnormality of iron homeostasis, Adrenal insufficiency, Hypoparathyroidism, Hepa... ORPHA:231226
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Hyperactivity, Impulsivity, Depression ORPHA:88616
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Vomiting, Elevated circulating creatine kinase concentration, Aggressive behavior, H... OMIM:616809
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Gait imbalance, Heat intolerance, Happy demeanor, Abnormal eating behavior, Inappropri... ORPHA:98794
Cebalid Syndrome
High palate, Polyphagia OMIM:618774
Hypermanganesemia With Dystonia 1
Dystonia, Hepatomegaly, Unconjugated hyperbilirubinemia, Steppage gait, Bradykinesia, Hypermangan... OMIM:613280
Spastic Paraplegia 29, Autosomal Dominant
Vomiting, Neonatal hyperbilirubinemia, Hyperactivity, Impaired vibratory sensation, Hiatus hernia OMIM:609727
Intrinsic Factor Deficiency
Absence of intrinsic factor, Paresthesia, Malabsorption, Somatic sensory dysfunction OMIM:261000
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal eating behavior, Hyperactivity, Impulsivity, Anxiety ORPHA:101039
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Gastroesophageal reflux OMIM:300434
Infantile Nephropathic Cystinosis
Vomiting, Hypokalemia, Polydipsia, Hypophosphatemia, Abnormality of thyroid physiology, Constipat... ORPHA:411629
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Polydipsia, Hypokalemia, Vomiting, Elevated circ... ORPHA:411634
Ochoa Syndrome
Bowel incontinence, Constipation, Polydipsia ORPHA:2704
Prader-Willi Syndrome
Adrenal insufficiency, Type II diabetes mellitus, Polyphagia, Impaired pain sensation, Self-injur... OMIM:176270
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Ataxia, Aggressive behavior, Polyphagia OMIM:156200
Morm Syndrome
Hyperactivity ORPHA:75858
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Hyperactivity, Broad-based gait, Unsteady gait, Gastroesophageal reflux, Constipa... OMIM:617865
Smith-Magenis Syndrome
Impaired pain sensation, Velopharyngeal insufficiency, Self-mutilation, Hypercholesterolemia, Hyp... OMIM:182290
Luscan-Lumish Syndrome
Anxiety, Aggressive behavior, Recurrent otitis media, Polyphagia OMIM:616831
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, High palate OMIM:618342
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Toxic Epidermal Necrolysis
Dysphagia, Polydipsia, Intestinal perforation, Pancreatitis, Malabsorption, Gastrointestinal hemo... ORPHA:537
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Man1B1-Cdg
Broad-based gait, Polyphagia ORPHA:397941
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysphagia, Feeding difficulties in infancy, Gastrointestinal dysmotility, Gastrostomy tube feedin... ORPHA:500150
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Attention deficit hyperactivity disorder, Abnormal stomach morphology ORPHA:281090
Erdheim-Chester Disease
Diabetes insipidus, Polydipsia, Retroperitoneal fibrosis, Hypogonadotropic hypogonadism, Fever, O... ORPHA:35687
Beta-Thalassemia Major
Recurrent fever, Abnormality of iron homeostasis, Hepatomegaly, Adrenal insufficiency, Hepatic fi... ORPHA:231214
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Personality disorder ORPHA:2382
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysphagia, Dysmetria, Abnormal circulating fatty-acid concentration, Primary ad... ORPHA:139396
Hemochromatosis, Type 1
Increased serum iron, Hepatomegaly, Testicular atrophy, Hepatocellular carcinoma, Hypogonadotropi... OMIM:235200
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Myopathy With Extrapyramidal Signs
Dystonia, Hepatomegaly, Choreoathetosis, Elevated circulating creatine kinase concentration, Hype... OMIM:615673
Serrated Polyposis Syndrome
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Pancreatic adenocarc... ORPHA:157798
Candidiasis, Familial, 2
Chronic oral candidiasis, Decreased serum iron OMIM:212050
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Metachromatic Leukodystrophy
Gait disturbance, Dystonia, Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morpholo... ORPHA:512
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Polyphagia, Pituitary adenoma, Hypopituitarism, Ele... OMIM:300942
Cystinosis, Nephropathic
Hyponatremia, Dysphagia, Hepatomegaly, Polydipsia, Splenomegaly, Primary hypothyroidism, Male hyp... OMIM:219800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, High palate OMIM:617773
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Splenomeg... ORPHA:766
Ck Syndrome
Hyperactivity, Aggressive behavior, High palate, Irritability ORPHA:251383
Mednik Syndrome
Intrahepatic cholestasis, Abnormal intestine morphology, Decreased circulating copper concentrati... ORPHA:171851
Williams Syndrome
Rectal prolapse, Gait imbalance, Abnormal gastric mucosa morphology, Chronic otitis media, Anxiet... ORPHA:904
Bardet-Biedl Syndrome 17
Hypogonadism, Polydipsia OMIM:615994
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Acquired Central Diabetes Insipidus
Diabetes insipidus, Polydipsia ORPHA:95626
Gangliocytoma
Abnormal prolactin level, Paresthesia, Polyphagia, Abnormality of the pituitary gland, Pituitary ... ORPHA:251937
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Recurrent otitis media, Hyperactivity, Hyperthyroid... ORPHA:449291
Ck Syndrome
Hyperactivity, Aggressive behavior, High palate, Irritability OMIM:300831
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
7Q11.23 Microduplication Syndrome
High palate, Polyphagia, Chronic otitis media, Dysmetria, Self-injurious behavior, Aggressive beh... ORPHA:96121
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotiona... OMIM:610217
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Rubinstein-Taybi Syndrome 2
Hyperactivity, Narrow palate, High palate, Intestinal malrotation OMIM:613684
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, High palate OMIM:617752
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Cleft palate, Polyphagia, Aggressive behavior, Self-mutilation, Emotional lability, ... ORPHA:251028
Potocki-Lupski Syndrome
High palate, Hypocholesterolemia, Hyperactivity, Hypothyroidism, Oral-pharyngeal dysphagia, Gastr... OMIM:610883
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
X-Linked Adrenoleukodystrophy
Gait disturbance, Adrenal insufficiency, Aggressive behavior, Inappropriate sexual behavior, Hype... ORPHA:43
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Recurrent otitis media, Decreased response to growth hormone ... OMIM:615286
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis... OMIM:608594
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Apathy, Hypersexuality, Polyphagia OMIM:607485
Proximal Renal Tubular Acidosis
Hypokalemia, Polydipsia, Vomiting, Malabsorption, Hyperuricosuria, Diarrhea, Bicarbonaturia ORPHA:47159
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, High, narrow palate, Dysphagia, Hyperactivity, Fati... ORPHA:166108
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Self-mutilation, Hyperactivity, Narrow palate, Unsteady gait OMIM:615516
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Enlarged pituitary gland, Polydipsia, Hypogonadism... ORPHA:91351
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis... OMIM:269700
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Dysphagia, Chronic gastritis, Arthritis, Diarrhea, C... OMIM:608809
Hypomagnesemia 3, Renal
Hypomagnesemia, Polydipsia, Hyperuricemia OMIM:248250
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Hyperactivity, Anxiety, High palate OMIM:300558
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Hyperesthesia, Septic arthritis, Somatic sensory dysfunction, Recurrent fever, Recurre... ORPHA:642
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft palate, Aggressive behavior, Bifid uvula, Hyperactivity, Broad-based gait, Precocious puberty OMIM:300958
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Macroglossia, Aggressive behavior, Hypogonadism, Hyperactivity, Gait ataxia, Delayed... OMIM:300354
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Multiple gastric polyps, Intussusception, ... OMIM:174900
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Splenomegaly, Irritability, Anxiety, Hai... ORPHA:2388
Argininemia
Hepatomegaly, Portal fibrosis, Vomiting, Spastic gait, Micronodular cirrhosis, Hyperammonemia, Hy... OMIM:207800
Teratoma, Pineal
Polydipsia OMIM:273120
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Trichohepatoenteric Syndrome 1
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Villous atrophy, Hepatic fib... OMIM:222470
Gomez-Lopez-Hernandez Syndrome
High palate, Self-injurious behavior, Hyperactivity, Ataxia, Decreased response to growth hormone... OMIM:601853
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal abscess, Skin rash, Diar... OMIM:618108
Distal Renal Tubular Acidosis
Vomiting, Hypokalemia, Polydipsia, Diarrhea, Constipation ORPHA:18
16P12.1P12.3 Triplication Syndrome
Abnormality of the intrahepatic bile duct, High, narrow palate, Skin-picking, Decreased response ... ORPHA:485405
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Precocious puberty, Broad-based gait ORPHA:457260
13Q12.3 Microdeletion Syndrome
Atopic dermatitis, Vomiting, Impaired pain sensation, Chronic otitis media, Self-mutilation, Hype... ORPHA:412035
Oligomeganephronia
Elevated circulating creatinine concentration, Polydipsia ORPHA:2260
Hardikar Syndrome
Cholangitis, Esophageal varix, Decreased serum insulin-like growth factor 1, Intrahepatic bile du... OMIM:301068
Adnp Syndrome
Polyphagia, Vomiting, Aggressive behavior, Oral-pharyngeal dysphagia, Anxiety, Attention deficit ... ORPHA:404448
Ethylene Glycol Poisoning
Hyperkalemia, Vomiting, Nausea, Hypothermia, Euphoria, Gastritis, Ataxia, Hypocalcemia ORPHA:31826
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Nephronophthisis 3
Hepatic fibrosis, Polydipsia OMIM:604387
Syndromic Diarrhea
Hepatomegaly, Abnormality of iron homeostasis, Bloody diarrhea, Villous atrophy, Hepatic fibrosis... ORPHA:84064
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia, Elevated maternal serum alp... OMIM:226730
Rasmussen Subacute Encephalitis
Hemidystonia, Hyperactivity, Inability to walk, Irritability, Emotional lability, Attention defic... ORPHA:1929
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Hepatomegaly, Pericarditis, Myositis, Xerostomia, Arthri... ORPHA:809
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior, Recurrent fever ORPHA:369939
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Chromosome 2Q37 Deletion Syndrome
Eczema, Self-injurious behavior, Aggressive behavior, Hyperactivity, Pain insensitivity OMIM:600430
Nephronophthisis 11
Hepatic fibrosis, Polydipsia OMIM:613550
Cap Polyposis
Colorectal polyposis, Constipation, Atrophic gastritis, Diarrhea, Hematochezia ORPHA:160148
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased serum thromboxane B2, Gastric ulcer, Abnormal circulating eicosanoid co... OMIM:618372
Hyperlysinemia
Dysphagia, High palate, Hypoornithinemia, Hyperlysinemia, Vomiting, Dysmetria, Hyperammonemia, Hy... ORPHA:2203
Inverted Duplicated Chromosome 15 Syndrome
High palate, Self-biting, Aggressive behavior, Hypogonadism, Hyperactivity, Precocious puberty ORPHA:3306
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Melena, Elevated hepatic transaminase, Increased total ... ORPHA:98870
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent fever, Self-mutilation, Keratitis, Osteomyelitis, Hyperactivity, Emotional lability, Pa... OMIM:256800
1P36 Deletion Syndrome
Pyloric stenosis, Gait disturbance, Dysphagia, Abnormal intestine morphology, Abnormality of the ... ORPHA:1606
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hypernatremia, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Elevated circ... OMIM:619381
Zygomycosis
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... ORPHA:73263
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia OMIM:614104
19P13.3 Microduplication Syndrome
Cleft palate, Self-injurious behavior, Precocious puberty, Hyperactivity, Irritability, Gastroeso... ORPHA:447980
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Polyphagia, H... ORPHA:54595
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Dysphagia, Splenomegaly, Hyperactivity, Diarrhea OMIM:252930
Cri-Du-Chat Syndrome
High palate, Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Bifid uvula, ... OMIM:123450
Intellectual Disability-Strabismus Syndrome
Gait disturbance, High palate, Decreased serum insulin-like growth factor 1, Aggressive behavior,... ORPHA:363528
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Trichotillomania
Hair-pulling OMIM:613229
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Ataxia, Anxiety, Constipation OMIM:618430
Nephronophthisis 4
Polydipsia OMIM:606966
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior, Elevated circulating growth hormone concentration, Decreased ... ORPHA:85327
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Self-biting, Bulimia, Aggressive behavior, Ataxia, Hyperactivity, Anxiety... OMIM:300912
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Dysphagia, Splenomegaly, Hyperactivity, Diarrhea OMIM:252940
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... ORPHA:1942
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Hepatomegaly, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frus... ORPHA:163681
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Allergic rhinitis, Pneumonia, Bronchiect... ORPHA:183675
Renal Hypoplasia
Polydipsia ORPHA:93101
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... OMIM:103050
19P13.12 Microdeletion Syndrome
Cleft palate, Hyperlipidemia, Self-injurious behavior, Hyperactivity, Hepatic steatosis, Hypothyr... ORPHA:254346
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low frustration ... ORPHA:168491
Nephronophthisis 1
Polydipsia OMIM:256100
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
High palate, Self-mutilation, Inappropriate laughter, Hyperactivity, Low frustration tolerance, C... ORPHA:363686
Purine Nucleoside Phosphorylase Deficiency
Unusual gastrointestinal infection, Hypouricemia, Hyperactivity, Ataxia ORPHA:760
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Hyperactivity, Attention deficit hyperactivity disorder, Neonatal hyperbilirubinemia ORPHA:73272
Wolfram Syndrome 2
Gastric ulcer, Diabetes mellitus OMIM:604928
Angelman Syndrome
Paroxysmal bursts of laughter, Macroglossia, Progressive gait ataxia, Hyperactivity, Broad-based ... OMIM:105830
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Aggressive behavior, Splenomegaly, Hyperactivity, Diarrhea OMIM:252920
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Mucopolysaccharidosis Type 3
Gait disturbance, Dysphagia, Hepatomegaly, Constipation, Chronic otitis media, Macroglossia, Loss... ORPHA:581
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Aggressive behavior, Shuffling gait, Cholelithiasis, Furrowed tongue, Hyperactivity,... OMIM:300534
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Anterior pituitary dysgenesis, Autoimmune hypoparathyroidism, Tubuloi... ORPHA:227982
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Erysipelas, Intestinal lymphangiectasia, Narrow palate, Hyperactivity, Thyroid l... OMIM:235510
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Dysphagia, Choreoathetosis, Bradykinesia, Depression, Hyperactivity, ... OMIM:234200
Glass Syndrome
High palate, Cleft palate, Happy demeanor, Aggressive behavior, Hyperactivity, Broad-based gait OMIM:612313
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Diarrhea ORPHA:2575
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Celiac disease, Xer... ORPHA:227990
47,Xyy Syndrome
Increased serum testosterone level, Increased circulating gonadotropin level, Hyperactivity, Impu... ORPHA:8
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Abnormality of the spleen, Hepatomegaly, Rectovaginal fistula, Es... ORPHA:2538
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Lactose intolerance, Hyperactivity, Gait disturbance ORPHA:457485
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Short uvula, Irritability, Anxiety, Jaundice, Recurrent fever, High palate, Vomiting... OMIM:619475
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Diarrhea, Hepatomegaly, Splenomegaly OMIM:252900
Alström Syndrome
Esophageal varix, Hyperlipidemia, Decreased response to growth hormone stimulation test, Hepatiti... ORPHA:64
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance OMIM:309520
Chromosome 13Q33-Q34 Deletion Syndrome
Pyloric stenosis, High palate, Aggressive behavior, Anal atresia, Hyperactivity, Anteriorly place... OMIM:619148
Wiedemann-Steiner Syndrome
Dysphagia, High palate, Aggressive behavior, Hyperactivity, Low frustration tolerance, Anxiety, D... ORPHA:319182
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Self-mutilation OMIM:300486
Distal Monosomy 12Q
Late onset atopic dermatitis, Pyloric stenosis, High, narrow palate, Duodenal atresia, Annular pa... ORPHA:96149
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Eczema, Cleft palate, Aganglionic megacolon, Vomiting, Elevated 7-dehydrocholes... OMIM:270400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Abnormality of the spleen, Gastric ulcer, Esophageal varix, Hepatic fibro... ORPHA:2072
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia OMIM:610042
Koolen-De Vries Syndrome
Pyloric stenosis, Eczema, High palate, Cleft palate, Conspicuously happy disposition, Narrow pala... OMIM:610443
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Bifid uvula, Submucous cleft hard palate OMIM:619239
16P11.2P12.2 Microdeletion Syndrome
Chronic otitis media, Hyperactivity, Gastroesophageal reflux, Impaired pain sensation ORPHA:261211
Nijmegen Breakage Syndrome
Sinusitis, Recurrent infection of the gastrointestinal tract, Cleft palate, Bronchiectasis, Anal ... OMIM:251260
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Asplenia, Splenogonadal fusion, Intestinal malrotation, Abse... OMIM:156810
Chromosome 1P36 Deletion Syndrome, Distal
Dysphagia, High palate, Congenital hypothyroidism, Polyphagia, Abnormality of the anus, Aggressiv... OMIM:607872
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Dysphagia, Unconjugated hyperbilirubinemia, Odynophagia, Decreased ser... ORPHA:447
Joubert Syndrome 1
Hepatic fibrosis, Macroglossia, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Prot... OMIM:213300
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait, Gastroesophageal reflux, Co... OMIM:614756
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Hyperact... ORPHA:280651
X-Linked Intellectual Disability, Cabezas Type
High palate, Aggressive behavior, Hypogonadism, Hyperactivity, Broad-based gait ORPHA:85293
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Delayed puberty OMIM:208060
Dyrk1A-Related Intellectual Disability Syndrome
Pyloric stenosis, Gait disturbance, Eczema, Duodenal atresia, Vomiting, Hyperactivity, Anterior p... ORPHA:464306
White-Sutton Syndrome
High palate, Self-injurious behavior, Aggressive behavior, Hyperactivity, Abnormality of the gast... ORPHA:468678
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the tongue, Hepatomegaly, Thyroid carcinoma, Glomerulonephritis, Hepatocellular carci... ORPHA:3261
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Dysphagia, Abnormality of the anterior pituitary, Hypothermia, Abnormality of the endoc... ORPHA:438213
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... ORPHA:424
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... ORPHA:141127
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Dysphagia, Hyperactivity, Irritability, Gastroesophageal reflux ORPHA:447997
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pheochromocytoma, Self-injurious behavior, Hepatic cysts, Aggressive ... ORPHA:805
Histidinemia
Hyperactivity ORPHA:2157
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Congenital pyloric atresia, Vomiting ORPHA:158684
Dubowitz Syndrome
Eczema, High palate, Episodic vomiting, Velopharyngeal insufficiency, Chronic diarrhea, Hyperacti... OMIM:223370
Coffin-Siris Syndrome
Aggressive behavior, Papillary thyroid carcinoma, Hepatoblastoma, Hyperactivity, Oral aversion, A... ORPHA:1465
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy, Arthritis OMIM:161700
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Pneumonia, Agoraphobia, Self-injurious behavior, Aggressi... ORPHA:353281
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Mend Syndrome
High palate, Cleft palate, Elevated 8(9)-cholestenol, Aggressive behavior, Elevated 8-dehydrochol... ORPHA:401973
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Impaired oral bolus formation, Decreased resting energy expenditure, Impaired oropharyngeal swall... ORPHA:404454
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Biliary tract obstruction, Gastritis, Recurrent pneumonia, Exocrine pancreatic insufficiency, Mec... OMIM:219721
Coffin-Siris Syndrome 1
Duodenal ulcer, Cleft palate, High palate, Gastric ulcer, Aggressive behavior, Intestinal malrota... OMIM:135900
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron OMIM:616959
Early Infantile Epileptic Encephalopathy
Dystonia, Cleft palate, Choreoathetosis, Self-injurious behavior, Hyperactivity, Episodic ataxia,... ORPHA:1934
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Recurrent skin infections, Urinary bladder inflammation, Congenital pyloric a... ORPHA:79403
Viss Syndrome
Atopic dermatitis, High, narrow palate, Eczema, Dysphagia, Malposition of the stomach, High palat... OMIM:619472
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Mucopolysaccharidosis Type 2
Hepatomegaly, Hip osteoarthritis, Macroglossia, Aggressive behavior, Splenomegaly, Chronic diarrh... ORPHA:580
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, High palate, Pneumonia, Agoraphobia, Self-injurious behav... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, High palate, Pneumonia, Agoraphobia, Self-injurious behav... ORPHA:353277
Maternal Phenylketonuria
Hyperactivity, High palate, Esophageal atresia ORPHA:2209
Monosomy 22Q13.3
Hair-pulling, Impaired pain sensation, Recurrent pyelonephritis, Hyperactivity, Recurrent skin in... ORPHA:48652
Tetrasomy 9P
High palate, Cleft palate, Pericarditis, Inappropriate behavior, Myositis, Median cleft lip and p... ORPHA:3310
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
High palate, Paroxysmal bursts of laughter, Vomiting, Macroglossia, Protruding tongue, Hypogonadi... OMIM:309580

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 Cckbr

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 Cckbr.

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

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MGI Allele Allele Type Produced
Cckbrtm449183(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cckbrem1(IMPC)H Exon Deletion Mice

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