Gene Summary

Name:
cholecystokinin A receptor
Synonyms:
N/A

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
enlarged urinary bladder Cckartm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating aspartate transaminase level Cckartm1b(EUCOMM)Hmgu HOM Early adult 6.78×10-06

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Viewing: all phenotypes

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

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Cckar 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 Cckar by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly 7, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:616080
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Lissencephaly, Pachygyria, Megalencephaly OMIM:614499
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Fever, Recurrent fever OMIM:260570
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Pachygyria, Cortical... OMIM:615412
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Ragweed Sensitivity
Fever OMIM:179450
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Lissencephaly, Pachy... OMIM:615411
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... ORPHA:2843
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormal corpus callosum morphology, Schizencephaly, Gray matter heterotopia, Microcephaly, Lisse... OMIM:604317
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Lissencephaly 1
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly, Pachygyria, Seconda... OMIM:607432
Microlissencephaly
Cerebral dysmyelination, Subcortical heterotopia, Periventricular heterotopia, Microcephaly, Liss... ORPHA:1083
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal ... ORPHA:101029
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:615544
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Microcephaly 9, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:614852
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Neuropathy, Hereditary Thermosensitive
Fever OMIM:602107
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria OMIM:615752
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebral morphology, Small cerebral cortex, Microcephaly, Simplified gyral pattern, Abno... ORPHA:329228
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Chronic diarrhea, Jaundice, Elevated hepatic transaminase, Cholestatic liver dise... ORPHA:65682
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Pancreatic Colipase Deficiency
Cholelithiasis, Chronic diarrhea, Exocrine pancreatic insufficiency, Steatorrhea ORPHA:309108
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Immunodeficiency 8
Hyperactivity OMIM:615401
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Progressive microcephaly, Periventricular nodular heterotopia, Periventricular heterotopia, Micro... OMIM:608097
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Lissencephaly, Pachyg... OMIM:611603
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice OMIM:224100
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Lissencephaly, Pachygyria OMIM:300067
Neuropathy, Painful
Fever OMIM:256870
Periventricular Nodular Heterotopia 8
Microcephaly, Periventricular nodular heterotopia OMIM:618185
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Small cerebral cortex OMIM:604804
Band Heterotopia
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Subcortical band heterotopia OMIM:600348
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... OMIM:614039
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Intrahepatic cholestasis, Hepatomegaly, Jaundice OMIM:605479
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Cortical dysplasia, Hypoplasia of t... OMIM:617201
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Microcephaly, Lissencephaly, Frontoparietal cortical dysplasia, Pach... OMIM:610031
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Abnormal corpus callosum morphology, Abnormality of neuronal migration, Cortical dy... OMIM:618709
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Partial agenesis of the corpus callosum, Hyp... OMIM:604213
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Pigment gallstones OMIM:613470
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly OMIM:615938
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Alpha-Thalassemia
Cholelithiasis, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Microcephaly, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Pol... OMIM:618730
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:222800
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Joubert Syndrome 13
Pachygyria OMIM:614173
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Splenome... ORPHA:567983
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Lissencephaly, Thick cerebral cortex, Hypoplasia of the c... OMIM:618677
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:235700
Mirizzi Syndrome
Cholelithiasis, Nausea, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of... ORPHA:521219
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:266200
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Microcephaly, Periventricular nodular heterotopia OMIM:618572
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Microcephaly, Abnormality of neuronal migration ORPHA:1980
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyria ORPHA:352682
Miller-Dieker syndrome (MDS)
Microcephaly, Lissencephaly DECIPHER:21
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Pontiac Fever
Fever ORPHA:99748
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice OMIM:182900
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Ppoma
Cholelithiasis, Gastrointestinal hemorrhage, Constipation, Primary hyperparathyroidism, Hepatomeg... ORPHA:97278
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:611881
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Testicular atrophy, Dysphagia, Facial diplegia OMIM:160900
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly ORPHA:848
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hematochezia, Giant cell hepatitis, Elevated hepatic transaminase, Cholestatic li... ORPHA:79095
Lissencephaly 5
Porencephalic cyst, Gray matter heterotopia, Subcortical band heterotopia, Hypoplasia of the corp... OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Vomiting ORPHA:171876
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Macrophagic Myofasciitis
Fever ORPHA:592
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Symmetrical Thalamic Calcifications
Cerebral calcification, Microcephaly, Abnormality of neuronal migration ORPHA:1314
Grfoma
Cholelithiasis, Gastrointestinal hemorrhage, Constipation, Primary hyperparathyroidism, Hepatomeg... ORPHA:97261
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Cerebral atrophy, Hepatic failure, Wide nasal bridge, Microcephaly, Elevated hepa... OMIM:614886
Brain Small Vessel Disease 2
Schizencephaly, Polymicrogyria, Porencephalic cyst, Subcortical heterotopia OMIM:614483
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hepatitis OMIM:194380
Tuberculosis
Fever ORPHA:3389
Cyclic Neutropenia
Fever OMIM:162800
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Decreased liver function, Splenomeg... ORPHA:231222
Somatostatinoma
Gastrointestinal hemorrhage, Constipation, Gallbladder dysfunction, Primary hyperparathyroidism, ... ORPHA:97283
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity OMIM:616657
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Gray matter heterotopia, Microcepha... ORPHA:2512
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Primary Sclerosing Cholangitis
Cholelithiasis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cirrhosis, Cholangiocarcino... ORPHA:171
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Polymicrogyria OMIM:619602
Sialuria
Cholelithiasis, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatomegaly ORPHA:3166
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Cerebrotendinous Xanthomatosis
Cholelithiasis, Pseudobulbar paralysis, Diarrhea, Xanthelasma OMIM:213700
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Acholic stools, Annular ... OMIM:615710
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Hypoparathyroidism, Asplenia, Chronic active hepatitis, Prem... OMIM:240300
Sickle Cell Anemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Cardiomegaly OMIM:603903
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Ele... ORPHA:79301
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, Atretic gallbladder, ... ORPHA:30391
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Peritonitis, Cholecystitis, Splenomegaly, Hepat... ORPHA:131
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Hemimegalencephaly
Focal cortical dysplasia, Hyperintensity of cerebral white matter on MRI, Gray matter heterotopia... ORPHA:99802
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Hepatomegaly, Splenomegaly, Ch... OMIM:618268
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Abnormality of exocrine pancreas physiology OMIM:609812
Intellectual Developmental Disorder, Autosomal Dominant 13
Microcephaly, Pachygyria, Abnormality of neuronal migration, Hypoplasia of the corpus callosum OMIM:614563
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Inflammatory Pseudotumor Of The Liver
Nausea, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography, E... ORPHA:90003
Cimdag Syndrome
Cholelithiasis, Cerebral atrophy, Microvesicular hepatic steatosis, Hepatomegaly, Primary microce... OMIM:619273
Cholestasis-Lymphedema Syndrome
Portal hypertension, Hyperlipidemia, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jau... ORPHA:1414
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Periodic fever OMIM:617772
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Microcephaly, Lissencephaly, Partial agenesis of the corpus callosum... OMIM:616212
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Jaundice ORPHA:288
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Triosephosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaundice OMIM:615512
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:822
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Recurrent upper respiratory tract infections, Cryptorchidism, Microcephaly, Promi... OMIM:300534
Congenital Muscular Dystrophy Without Intellectual Disability
Microcephaly, Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology ORPHA:370980
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Gastrointestinal hemorrhage, Cholecystitis,... ORPHA:774
Chronic Recurrent Multifocal Osteomyelitis
Fever OMIM:259680
Subependymal Nodular Heterotopia
Focal cortical dysplasia, Gray matter heterotopia, Partial agenesis of the corpus callosum, Polym... ORPHA:101030
Proteasome-Associated Autoinflammatory Syndrome 5
Fever OMIM:619175
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Cerebral atrophy, Agenesis of corpus callosum, Cavum septum pellucidum, Dilated t... ORPHA:464738
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Splenomegaly ORPHA:3202
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Agenesis of corpus callosum, Primary microcephaly, Hypoplasia of the corp... ORPHA:89844
Gallbladder Neuroendocrine Tumor
Nausea, Biliary tract obstruction, Cholecystitis, Biliary tract neoplasm, Extrahepatic cholestasi... ORPHA:100086
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... OMIM:601346
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Chronic constipation OMIM:301066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Abnormal periventricular white matter morphology OMIM:608840
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Hyperlipidemia, Decreased liver function, Splenomegaly, Hepatome... ORPHA:77293
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Metachromatic Leukodystrophy
Cholecystitis, Gallbladder dysfunction OMIM:250100
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Meckel Syndrome, Type 6
Absent gallbladder, Occipital encephalocele, Bile duct proliferation, Anencephaly, Cystic liver d... OMIM:612284
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Multicentric Reticulohistiocytosis
Fever ORPHA:139436
Bohring-Opitz Syndrome
Cholelithiasis, Agenesis of corpus callosum, Wide nasal bridge, Microcephaly, Depressed nasal bri... ORPHA:97297
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria, Hypo... ORPHA:255138
Morm Syndrome
Hyperactivity ORPHA:75858
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Hyperprolinemia, Type I
Hyperactivity OMIM:239500
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly OMIM:263700
Metachromatic Leukodystrophy
Bowel incontinence, Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology ORPHA:512
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gallbladder, Biliary tract neoplasm, Enlarged pol... ORPHA:2869
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Cholelithiasis, Hyperintensity of cerebral white ... ORPHA:909
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
Acalvaria
Abnormality of neuronal migration ORPHA:945
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
22Q11.2 Deletion Syndrome
Cholelithiasis, Occipital myelomeningocele, Bulbous nose, Cryptorchidism, Aganglionic megacolon, ... ORPHA:567
Distal Trisomy 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Microcephaly, Prominent nasal bridge, Shor... ORPHA:96097
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Underdeveloped nasal alae, Cryptorchidism, Choanal stenosis, Pancreatic hypoplasi... ORPHA:83617
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration ORPHA:3307
Meckel Syndrome, Type 3
Occipital encephalocele, Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ducta... OMIM:607361
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:164180
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia OMIM:615960
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Malignant hyperthermia OMIM:217150
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Lissencephaly, Colpocephaly, Gray matter heterotopia OMIM:615219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Anencephaly, Gray matter heterotopia, Cortical dysplasia, Type II li... OMIM:615287
Microgastria-Limb Reduction Defects Association
Fusion of the left and right thalami, Absent gallbladder, Splenogonadal fusion, Agenesis of corpu... OMIM:156810
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:2772
Steinert Myotonic Dystrophy
Cholelithiasis, Hypercholesterolemia, Constipation, Oral-pharyngeal dysphagia, Ovarian carcinoma,... ORPHA:273
Halothane Hepatitis
Fever OMIM:234350
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hypoplasia of the corpus callosum, Hepatosplenomegaly, Spontaneous, recurrent epi... ORPHA:2072
Walker-Warburg Syndrome
Abnormal cortical gyration, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Macrogyria,... ORPHA:899
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity OMIM:618090
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microcephaly, Gray matter heterotopia, Thin corpus callosum OMIM:619694
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Prolonged neonatal jaundice, Portal hypertension OMIM:604901
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Fever OMIM:614212
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Periventricular nodular heterotopia, Hypopituitarism, Gray matter he... OMIM:603671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Subcortical heterotopia, Gray matter heterotopia, Partial agenesis of the corpus callosum... OMIM:614643
8P Inverted Duplication/Deletion Syndrome
Agenesis of corpus callosum, Cryptorchidism, Wide nasal bridge, Aplasia/Hypoplasia of the gallbla... ORPHA:96092
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Interface hepatitis, Inf... ORPHA:562639
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Absent gallbladder, Agenesis of corpus callosum, Abnormality of the ... ORPHA:556955
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Recurrent fever ORPHA:369939
Intellectual Developmental Disorder, X-Linked 12
Microcephaly, Abnormality of neuronal migration, Abnormal cerebral white matter morphology OMIM:300957
Malignant Hyperthermia, Susceptibility To, 5
Fever OMIM:601887
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Fever, Recurrent fever OMIM:201910
Lathosterolosis
Cerebral atrophy, Myelomeningocele, Hepatosplenomegaly, Wide nasal bridge, Microcephaly, Intrahep... OMIM:607330
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Microcephaly, Cerebral cortical atrophy, Abnormality of neuronal migration ORPHA:2518
Caroli Syndrome
Hepatic failure, Portal hypertension, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:480520
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Abnormal pineal melatonin secretion, Cholecystitis, Jaundice, Elevat... ORPHA:69665
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Hypoplasia of the corpus callosum OMIM:618974
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Hepat... OMIM:208540
Desmosterolosis
Abnormal cortical gyration, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Macrogyria,... ORPHA:35107
Caffey Disease
Fever OMIM:114000
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Decreased thalamic volume, Ty... ORPHA:370959
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Digeorge Syndrome
Cholelithiasis, Hepatic steatosis, Parathyroid agenesis, Gastroesophageal reflux, Splenomegaly, O... OMIM:188400
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Pentalogy Of Cantrell
Absent gallbladder, Anencephaly, Hydrocephalus, Polysplenia, Encephalocele ORPHA:1335
Trisomy 10P
Absent gallbladder, Abnormality of the nose, Primary microcephaly, Abnormal auditory evoked poten... ORPHA:171929
Trisomy 8P
Recurrent upper respiratory tract infections, Agenesis of corpus callosum, Cryptorchidism, Aplasi... ORPHA:264450
Steinfeld Syndrome
Holoprosencephaly, Absent gallbladder, Aplasia of the nose OMIM:184705
Triploidy
Hepatomegaly, Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder ORPHA:3376
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Pachygyria, Polymicrogyria, Abnormality of... ORPHA:2211
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Bile duct proliferation, Anencephaly, Microcephaly, Hydrocepha... OMIM:611134
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Fucosidosis
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Meckel Syndrome, Type 7
Biliary cirrhosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Pancreatic cysts, Bile d... OMIM:267010
Histidinemia
Hyperactivity ORPHA:2157
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormality of mesentery morphology, Abnormality of the gallbladder ORPHA:2075
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Opitz gbbb syndrome, type II
Absent gallbladder, Agenesis of corpus callosum, Cavum septum pellucidum, Cryptorchidism, Wide na... OMIM:145410
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Microcephaly, Lissencephaly, Macrogyria, Pach... ORPHA:2671
Alg11-Cdg
Cerebral atrophy, Cerebral white matter atrophy, Gray matter heterotopia, Microcephaly, Abnormal ... ORPHA:280071
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Periventricular heterotopia, Agenesis of corpus... OMIM:618476
Pseudo-Torch Syndrome 2
Cerebral calcification, Gray matter heterotopia, Microcephaly, Polymicrogyria, Dilation of latera... OMIM:617397
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Pachygyria... ORPHA:157
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Elevate... OMIM:203700
Williams Syndrome
Cholelithiasis, Abnormality of the diencephalon, Polycystic ovaries, Cryptorchidism, Wide nasal b... ORPHA:904
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Underdeveloped nasal alae, Overhanging nasal tip, Cryptorchidism, Choanal atr... ORPHA:163979
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Bile duct proliferation OMIM:611561
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Familial Infantile Myoclonic Epilepsy
Thick cerebral cortex, Abnormal hippocampus morphology, Periventricular nodular heterotopia ORPHA:352582
Meckel Syndrome, Type 2
Bile duct proliferation, Anencephaly, Meningocele, Encephalocele OMIM:603194
Neutral Lipid Storage Myopathy
Hepatic steatosis, Pineal cyst, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Elevated hepat... ORPHA:98908
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Bowel incontinence, Neoplasm of the gallbladder ORPHA:309271
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Pachygyria... ORPHA:228308
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Intermittent diarrhea, Pancreatic hypoplasia, Aplasia/Hypoplas... ORPHA:2255
Galloway-Mowat Syndrome
Microcephaly, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microcephaly, Holoprosencephaly, Absent gallbladder, Aplasia of the nose ORPHA:3186
Miller-Dieker Lissencephaly Syndrome
Agyria, Cavum septum pellucidum, Gray matter heterotopia, Microcephaly, Lissencephaly, Midline br... OMIM:247200
9Q21.13 Microdeletion Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia ORPHA:531151
Chiari Malformation Type Ii
Agenesis of corpus callosum, Gray matter heterotopia OMIM:207950
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Craniofacioskeletal Syndrome
Microcephaly, Absent gallbladder, Cryptorchidism, Choanal atresia OMIM:300712
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Vici Syndrome
Cerebral cortical atrophy, Agenesis of corpus callosum, Gray matter heterotopia ORPHA:1493
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cerebral atrophy, Gray matter heterotopia, Hypoplasia of the corpus callosum OMIM:618797
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Zttk Syndrome
Dysplastic corpus callosum, Absent gallbladder, Abnormal cerebral white matter morphology, Wide n... OMIM:617140
Caroli Disease, Isolated
Fever, Recurrent fever OMIM:600643
Hardikar Syndrome
Hepatic failure, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholangitis, Bile duct pro... OMIM:301068
6Q Terminal Deletion Syndrome
Colpocephaly, Periventricular heterotopia, Gray matter heterotopia, Abnormal cerebral cortex morp... ORPHA:75857
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Agenesis of corpus callosum, Basal ganglia cysts, Microcephaly, Intracerebral periventricular cal... OMIM:608836
Ring Chromosome 13 Syndrome
Agenesis of corpus callosum, Anencephaly, Wide nasal bridge, Microcephaly, Depressed nasal bridge... ORPHA:96176
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Enlarged kidney, Portal hypertension, Hepatosplenomegaly, Periportal fibrosis, Ch... ORPHA:731
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration ORPHA:2318
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, Gray matter heterotopia OMIM:617822
Joubert Syndrome 35
Abnormality of temperature regulation OMIM:618161
Vacterl/Vater Association
Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder ORPHA:887
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Dilation of lateral ventricles, Absent gallbladder, Abnormal cerebral... ORPHA:500150
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Myelofibrosis
Fever OMIM:254450
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Cholecystitis, Splenomegaly, Hepatomegaly, Hepatiti... ORPHA:781
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the fro... ORPHA:468631
Radio-Tartaglia Syndrome
Microcephaly, Agenesis of corpus callosum, Gray matter heterotopia OMIM:619312
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Cerebral cortical atrophy, Abnormality o... ORPHA:192
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Abnormality of neuronal migration ORPHA:163681
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Microcephaly, Hypoplasia of the cor... OMIM:618918
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Cholangitis, Cholecystitis, Liver abscess, Chronic gastritis ORPHA:183675
Rett Syndrome
Cholecystitis ORPHA:778
D-Bifunctional Protein Deficiency
Cerebral dysmyelination, Hepatic steatosis, Cholestasis, Bile duct proliferation, Splenomegaly, H... OMIM:261515
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Listeriosis
Hepatic granulomatosis, Nausea, Cholecystitis, Peritonitis, Jaundice, Liver abscess, Diarrhea, Sp... ORPHA:533
16P13.11 Microdeletion Syndrome
Microcephaly, Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
Gaisböck Syndrome
Cholecystitis, Hypertriglyceridemia, Hypercholesterolemia ORPHA:90041
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Abnormality of temperature regulation, Fever, Hypothermia OMIM:618493
Van Maldergem Syndrome 2
Hypoplasia of the corpus callosum, Gray matter heterotopia, Periventricular nodular heterotopia, ... OMIM:615546
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Tetrasomy 9P
Absent gallbladder, Bulbous nose, Cryptorchidism, Jaundice, Lissencephaly, Pachygyria, Biliary at... ORPHA:3310
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia, Absent septum pellucidum OMIM:618870
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Recurrent fever OMIM:256800
Bohring-Opitz Syndrome
Microcephaly, Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus call... OMIM:605039
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, H... ORPHA:314679
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Macrovesicular hepatic steatosis, Decreased liver function, Elevated hep... OMIM:618329
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Hypoplastic olfactory lobes, ... OMIM:214100
Aicardi Syndrome
Cavum septum pellucidum, Dilated third ventricle, Gray matter heterotopia, Microcephaly, Partial ... OMIM:304050
Vici Syndrome
Microcephaly, Schizencephaly, Agenesis of corpus callosum, Gray matter heterotopia OMIM:242840
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia OMIM:600001
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration ORPHA:1454
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Bilateral perisylvian polymicrogyria, Microcepha... ORPHA:98889
Orofaciodigital Syndrome Type 6
Aplasia/Hypoplasia of the corpus callosum, Hypothalamic hamartoma, Abnormality of neuronal migration ORPHA:2754
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:261250
Peters-Plus Syndrome
Cerebral atrophy, Agenesis of corpus callosum, Cryptorchidism, Microcephaly, Biliary tract abnorm... OMIM:261540
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Posterior pituitary hypoplasia, Microcephaly, Cerebral cortical atrophy, Hypoplasia of the corpus... ORPHA:464311
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Hepatic failure, Parotitis, Orchitis, Cholecystitis, Splenomegaly, Hepatomega... ORPHA:99827
Kawasaki Disease
Cholecystitis, Hepatitis, Diarrhea, Jaundice ORPHA:2331
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Cerebral atrophy, Agenesis of corpus callosum... OMIM:311200
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jaundice, Pancreatic fibrosi... OMIM:208500
Familial Adenomatous Polyposis
Hepatoblastoma, Biliary tract obstruction, Cholangiocarcinoma, Neoplasm of the gallbladder, Pancr... ORPHA:733
Machado-Joseph Disease Type 1
Abnormality of temperature regulation ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation ORPHA:276241
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Bile duct prolife... OMIM:619525
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Portal hypertension, Cholestasis, Bile duct proliferation, Gastroesophageal re... OMIM:613658
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Cholestasis, Cholangitis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:613610
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Abnormality of the anterior pituitary, Cholecystitis, De... ORPHA:449395
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Gray matter heterotopia, S... OMIM:618820
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Anterior hypopituitarism, Microcep... ORPHA:2162
Koolen-De Vries Syndrome
Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum OMIM:610443
Biliary Malformation With Renal Tubular Insufficiency
Biliary hyperplasia, Jaundice OMIM:210550
Machado-Joseph Disease Type 3
Abnormality of temperature regulation ORPHA:276244
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Meckel Syndrome, Type 1
Agenesis of corpus callosum, Accessory spleen, Occipital encephalocele, Cryptorchidism, Anencepha... OMIM:249000
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Gastroesophageal reflux, Abnormality of the gallbladder ORPHA:818
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum ORPHA:453499
Wolf-Hirschhorn Syndrome
Cryptorchidism, Abdominal situs inversus, Abnormality of the gallbladder ORPHA:280
Multiple Endocrine Neoplasia Type 4
Elevated circulating growth hormone concentration, Extrahepatic cholestasis, Insulinoma, Abnormal... ORPHA:276152
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia OMIM:305450
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, Portal hypertensi... OMIM:619534
Nijmegen Breakage Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:647
Cockayne Syndrome Type 1
Abnormality of temperature regulation ORPHA:90321
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Agenesis of corpus callosum, Anencephaly, Gray matter heterotopia, Ab... OMIM:236680
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Microcephaly, Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus call... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Microcephaly, Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus call... ORPHA:352665
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Pagod Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:991
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Gray matter heterotopia, Microcepha... OMIM:210710
Ulnar-Mammary Syndrome
Abnormality of temperature regulation ORPHA:3138
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation OMIM:209880
Arima Syndrome
Gray matter heterotopia OMIM:243910
Fontaine Progeroid Syndrome
Microcephaly, Gray matter heterotopia, Periventricular heterotopia, Hypoplasia of the corpus call... OMIM:612289
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus cal... OMIM:615948
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Dilated third ventricle, Open operculum, Microcephaly, Partial agene... ORPHA:434179
Acute Transverse Myelitis
Abnormality of temperature regulation, Fever ORPHA:139417
Deeah Syndrome
Abnormality of temperature regulation OMIM:619004
Smith-Lemli-Opitz Syndrome
Microcephaly, Hypoplasia of the frontal lobes, Periventricular heterotopia, Hypoplasia of the cor... OMIM:270400
Genitopatellar Syndrome
Microcephaly, Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation ORPHA:667
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of temperature regulation, Heat intolerance ORPHA:2273
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Agenesis of corpus callos... ORPHA:261537
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplastic anterior commissure, Abnormal corpus callosum morphology, Hypoplasia of the corpus ca... ORPHA:261552
Mowat-Wilson Syndrome
Focal cortical dysplasia, Agenesis of corpus callosum, Periventricular heterotopia, Abnormal hipp... ORPHA:2152

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 Cckar

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 Cckar.

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

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MGI Allele Allele Type Produced
Cckartm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Cckartm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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