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Gene: Cckar MGI:99478

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Gene Summary

Name:
cholecystokinin A receptor
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating aspartate transaminase level Cckartm1b(EUCOMM)Hmgu HOM Early adult 6.78×10-06
enlarged urinary bladder Cckartm1b(EUCOMM)Hmgu HOM Early adult 0.00

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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 Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Pancreatic Colipase Deficiency
Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309108
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Acholic stools, Cholestatic liver dise... ORPHA:65682
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho... ORPHA:69663
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Stomatitis ORPHA:438274
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ... OMIM:211600
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:613470
Alpha-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis ORPHA:846
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:300067
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Ma... ORPHA:209902
Mirizzi Syndrome
Elevated hepatic transaminase, Nausea, Pancreatitis, Jaundice, Cholesterol gallstones, Vomiting, ... ORPHA:521219
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis OMIM:235700
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Pontiac Fever
Fever ORPHA:99748
Spherocytosis, Type 1
Splenomegaly, Jaundice, Cholelithiasis OMIM:182900
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... ORPHA:97278
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho... ORPHA:79095
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Cholelithiasis, Vomiting ORPHA:171876
Myotonic Dystrophy 1
Facial diplegia, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy OMIM:160900
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Cyclic Neutropenia
Fever OMIM:162800
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Macrophagic Myofasciitis
Fever ORPHA:592
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Mantle Cell Lymphoma
Fever, Anorexia ORPHA:52416
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... ORPHA:97261
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... OMIM:604317
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Wide nasal bridge, Hepatosplenomegaly, Attention def... ORPHA:3166
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Undifferentiated Pleomorphic Sarcoma
Fever, Anorexia ORPHA:2023
Cholangiocarcinoma
Fever, Anorexia ORPHA:70567
Tuberculosis
Fever ORPHA:3389
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Prominent nose, Hydrocephalus, Wide nasal bridge, Cholelithiasis, ... OMIM:614886
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... ORPHA:97283
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... ORPHA:171
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... ORPHA:79301
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Hyperactivity, Prominent nasal bridge, Aggressive behavior, Cryptorchidism, Recurre... OMIM:300534
Glycogen Storage Disease Xii
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... OMIM:611881
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Diarrhea, Cholelithiasis OMIM:240300
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Cerebrotendinous Xanthomatosis
Cholelithiasis, Pseudobulbar paralysis, Xanthelasma, Diarrhea OMIM:213700
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi... ORPHA:1414
Mitchell-Riley Syndrome
Absent gallbladder, Diarrhea, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular panc... OMIM:615710
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Periodic fever OMIM:617772
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Hereditary Elliptocytosis
Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice ORPHA:288
Triosephosphate Isomerase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis OMIM:615512
Hereditary Spherocytosis
Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis ORPHA:822
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepat... ORPHA:774
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Steatorrhea, Recurrent pancreatitis, Decreased live... OMIM:618268
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice ORPHA:3202
Chronic Recurrent Multifocal Osteomyelitis 3
Fever OMIM:259680
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Basel-Vanagaite-Smirin-Yosef Syndrome
Prominent nasal tip, Anteverted nares, Aggressive behavior, Lateral ventricle dilatation, Choleli... ORPHA:464738
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Depressed nasal bridge, Aggressive behavior, Hepatosplenomegaly, Cholecystitis, Bif... OMIM:301066
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Ascites, ... ORPHA:100086
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splenomegaly, Hyperlipidemia, Neoplasm of the ... ORPHA:77293
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph... OMIM:616212
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Malignant Hyperthermia, Susceptibility To, 5
Fever, Malignant hyperthermia OMIM:601887
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria ORPHA:300573
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Hereditary Central Diabetes Insipidus
Fever, Polydipsia ORPHA:30925
Meckel Syndrome, Type 6
Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Cystic liver disease, Bi... OMIM:612284
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decreased nerve cond... ORPHA:909
Porphyria, Congenital Erythropoietic
Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis OMIM:263700
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Vomiting, Cardiomegaly ORPHA:97297
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Biliary tract neo... ORPHA:2869
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Aganglionic megacolon, Choanal atresia, Spina bifida, Prominent nasal bridge,... ORPHA:567
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Bowel incontinence, Hemobilia, Neoplasm of the gallbladder ORPHA:512
Meckel Syndrome, Type 3
Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, B... OMIM:607361
8P Inverted Duplication/Deletion Syndrome
Anteverted nares, Impulsivity, Cryptorchidism, Wide nasal bridge, Aplasia/Hypoplasia of the gallb... ORPHA:96092
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Spontaneous, recurrent epistaxis, Splenomegaly, Abnormality of the spleen, Hydroceph... ORPHA:2072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Subependymal Nodular Heterotopia
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration ORPHA:101030
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Steator... ORPHA:79303
Acalvaria
Abnormality of neuronal migration ORPHA:945
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Abnormal external nose morphology, Holoprosencephaly, Pancreatic aplasia, Age... ORPHA:556955
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Hypercholesterolemia, Decreased response to growth hormone stimula... ORPHA:273
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Underdeveloped nasal alae, Biliary hyperplasia, Cryptorchidism, Wide nasal bridge, ... ORPHA:83617
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Glutathionuria
Gray matter heterotopia OMIM:231950
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Fever OMIM:614212
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Depressed nasal bridge, Exocrine pancreatic insufficiency, Elevated circulati... OMIM:618500
Digeorge Syndrome
Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... OMIM:188400
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Abnormal pineal melatonin s... ORPHA:69665
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Polysplenia ORPHA:1335
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Triploidy
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas, Cryptorchidism ORPHA:3376
Trisomy 8P
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Recurrent upper respirat... ORPHA:264450
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:899
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Steinfeld Syndrome
Absent gallbladder, Holoprosencephaly, Aplasia of the nose OMIM:184705
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Williams Syndrome
Cryptorchidism, Wide nasal bridge, Polycystic ovaries, Compulsive behaviors, Attention deficit hy... ORPHA:904
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr... OMIM:614643
Lathosterolosis
Elevated hepatic transaminase, Anteverted nares, Bilobate gallbladder, Intrahepatic cholestasis, ... OMIM:607330
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder ORPHA:2075
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Histidinemia
Hyperactivity ORPHA:2157
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Trisomy 10P
Absent gallbladder, Depressed nasal bridge, Anteverted nares, Abnormal auditory evoked potentials... ORPHA:171929
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder, Intermittent diarrhea... ORPHA:2255
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Ov... ORPHA:163979
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:35107
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Bowel incontinence, Neoplasm of the gallbladder ORPHA:309271
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation OMIM:611134
Meckel Syndrome, Type 5
Anencephaly, Occipital encephalocele, Bile duct proliferation OMIM:611561
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Pineal c... ORPHA:98908
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Polymicrogyria, Type II lissencephaly ORPHA:370959
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Meckel Syndrome, Type 2
Encephalocele, Anencephaly, Meningocele, Bile duct proliferation OMIM:603194
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... OMIM:301068
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Holoprosencephaly, Aplasia of the nose ORPHA:3186
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Joubert Syndrome 35
Abnormality of temperature regulation OMIM:618161
Neu-Laxova Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2671
Vacterl/Vater Association
Cryptorchidism, Abnormality of the gallbladder, Abnormality of the pancreas ORPHA:887
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia ORPHA:255138
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Anteverted nares, Depressed nasal bridge, Anencephaly, Wide nasal ... ORPHA:96176
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Abnorma... ORPHA:781
Gaisböck Syndrome
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Cholecystitis ORPHA:90041
Tetrasomy 9P
Absent gallbladder, Hyperactivity, Cryptorchidism, Jaundice, Hydrocephalus, Biliary atresia, Bulb... ORPHA:3310
Zttk Syndrome
Absent gallbladder, Depressed nasal bridge, Dysplastic corpus callosum, Optic atrophy, Wide nasal... OMIM:617140
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Galloway-Mowat Syndrome
Pachygyria, Abnormality of neuronal migration ORPHA:2065
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Joubert Syndrome
Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Rett Syndrome
Cholecystitis ORPHA:778
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Listeriosis
Liver abscess, Jaundice, Peritonitis, Diarrhea, Hepatic granulomatosis, Vomiting, Cholecystitis, ... ORPHA:533
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis ORPHA:183675
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia OMIM:618493
Machado-Joseph Disease Type 1
Abnormality of temperature regulation, Dysphagia ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation, Dysphagia ORPHA:276241
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:203700
Chiari Malformation Type Ii
Gray matter heterotopia OMIM:207950
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:157
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Depressed nasal bridge, Optic nerve hypoplasia, Dysplastic corpus callosum, O... ORPHA:500150
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... OMIM:618329
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Machado-Joseph Disease Type 3
Abnormality of temperature regulation, Dysphagia ORPHA:276244
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration OMIM:608836
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla... ORPHA:733
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Kawasaki Disease
Jaundice, Hepatitis, Cholecystitis, Diarrhea ORPHA:2331
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:228308
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia OMIM:619833
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Bile duct ... OMIM:261515
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Orchitis, Splenomegaly, Jaundice, Hematemesis, Diarrhea, Hemope... ORPHA:99827
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... OMIM:613658
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration ORPHA:261236
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria OMIM:620024
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Recurrent fever, Dysphagia OMIM:601559
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter... ORPHA:75857
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Abnormality of the gallbladder, Gastroesophageal reflux ORPHA:818
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles... OMIM:613610
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Vomiting, Elevated hepatic iron concentrati... OMIM:619991
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... ORPHA:98889
Wolf-Hirschhorn Syndrome
Cryptorchidism, Abnormality of the gallbladder, Abdominal situs inversus ORPHA:280
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Igg4-Related Kidney Disease
Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterior pituitary, S... ORPHA:449395
Peters-Plus Syndrome
Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Biliary tract abnormality, Agenesis of corpu... OMIM:261540
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia OMIM:618476
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria ORPHA:468631
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Elevated circulating growth hormone concentration, Insulinoma, Extrahepatic ... ORPHA:276152
Cockayne Syndrome Type 1
Abnormality of temperature regulation ORPHA:90321
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619534
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, Cr... OMIM:249000
Deeah Syndrome
Abnormality of temperature regulation, Self-mutilation, Dysphagia OMIM:619004
Opitz-Kaveggia Syndrome
Gray matter heterotopia OMIM:305450
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Ulnar-Mammary Syndrome
Abnormality of temperature regulation ORPHA:3138
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia OMIM:619895
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation OMIM:209880
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
Vici Syndrome
Gray matter heterotopia OMIM:242840
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia ORPHA:352665
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Microlissencephaly, Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:210710
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:618820
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Acute Transverse Myelitis
Fever, Abnormality of temperature regulation ORPHA:139417
Arima Syndrome
Gray matter heterotopia OMIM:243910
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Type II lissencephaly OMIM:615287
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation ORPHA:667
Orofaciodigital Syndrome Xiv
Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia OMIM:615948
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia OMIM:270400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of temperature regulation, Heat intolerance ORPHA:2273
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration OMIM:236680
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Polymicrogyria, Periventricular heterotopia ORPHA:261537
Mowat-Wilson Syndrome
Polymicrogyria, Periventricular heterotopia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Polymicrogyria, Periventricular heterotopia ORPHA:261552

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.

Order Mouse and ES Cells

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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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