Gene Summary

Name:
chloride channel accessory 2
Synonyms:
Clca5

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vitreous body morphology Clca2em1(IMPC)Mbp HOM   Early adult 1.80×10-07
abnormal kidney morphology Clca2em1(IMPC)Mbp HOM Early adult 0.00
small kidney Clca2em1(IMPC)Mbp HOM Early adult 0.00
small testis Clca2em1(IMPC)Mbp HOM Early adult 0.00
cataract Clca2em1(IMPC)Mbp HOM   Early adult 1.70×10-07
abnormal testis morphology Clca2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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

30 Images

Human diseases caused by Clca2 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 Clca2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619874
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo... OMIM:231100
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly OMIM:232700
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract OMIM:300719
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure ORPHA:60
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Bile Acid Conjugation Defect 1
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619232
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice OMIM:614876
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly OMIM:613861
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure OMIM:231530
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating... OMIM:240950
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Morm Syndrome
Cataract, Retinal atrophy, Micropenis ORPHA:75858
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... OMIM:616278
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Cardiomegaly OMIM:201475
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Decreased testicular size, Hypogonadism ORPHA:1875
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Ascites, Hepatomegaly, Jaundice ORPHA:890
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis OMIM:613313
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Cataract, Hypogonadism, Cryptorchidism ORPHA:363741
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Jaundice OMIM:618549
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... OMIM:214950
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice OMIM:243300
Trichomegaly
Cataract OMIM:190330
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatomegaly, Hepatic failure OMIM:617872
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:605479
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... OMIM:613812
3-Methylglutaconic Aciduria Type 1
Hepatomegaly ORPHA:67046
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Jaundice OMIM:618528
Isolated Polycystic Liver Disease
Polycystic liver disease, Hepatomegaly, Abnormality of the pancreas ORPHA:2924
Immunodeficiency 104
Hepatomegaly, Splenomegaly OMIM:608971
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly OMIM:614870
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... OMIM:603471
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cryptorchidism, Cataract, Hypogonadism OMIM:601794
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Macular atrophy OMIM:618220
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hepatomegaly OMIM:619433
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract OMIM:619813
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Abnormality of retinal pigmenta... ORPHA:791
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Aminoaciduria, Premature ovarian insufficiency ORPHA:2278
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly OMIM:615285
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Cataract, Developmental cataract OMIM:619420
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... ORPHA:2410
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:86893
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Carcinoid Syndrome
Elevated hepatic transaminase, Hepatic necrosis ORPHA:100093
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Elevated h... ORPHA:369
Senior-Loken Syndrome
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Cataract, Stage 5 ... ORPHA:3156
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Cystic Fibrosis
Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis ORPHA:586
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract ORPHA:190
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:610717
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice OMIM:231680
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Wagr Syndrome
Ambiguous genitalia, Cataract, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypop... ORPHA:893
Propionic Acidemia
Hepatomegaly ORPHA:35
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract OMIM:614292
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Elevate... OMIM:616860
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo... ORPHA:1473
Wagner Vitreoretinopathy
Optic atrophy, Retinal pigment epithelial atrophy, Cataract, Peripheral tractional retinal detach... OMIM:143200
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hypertension, Neonatal c... ORPHA:1414
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly ORPHA:66661
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic cholesta... OMIM:235555
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly OMIM:615234
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Jaundice ORPHA:99978
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Hypergonadotrop... ORPHA:3085
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma ORPHA:231736
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly OMIM:615924
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Unilateral renal agene... OMIM:308750
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Hepatomegaly ORPHA:2198
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy, Hypogonadism OMIM:268050
Wolfram Syndrome 1
Testicular atrophy, Hydroureter, Pigmentary retinopathy, Hypothyroidism, Optic atrophy, Cataract,... OMIM:222300
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Iris coloboma, Cataract, Renal insufficiency, Dis... ORPHA:2377
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase OMIM:246900
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... OMIM:619048
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly OMIM:614859
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Alpha-Heavy Chain Disease
Ascites, Hepatomegaly, Splenomegaly ORPHA:100025
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Microcephaly, Amish Type
Hepatomegaly OMIM:607196
Fish-Eye Disease
Hepatomegaly, Splenomegaly ORPHA:79292
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Caroli Disease, Isolated
Cholangitis, Hepatomegaly, Liver abscess, Portal hypertension OMIM:600643
Stickler Syndrome Type 2
Corneal opacity, Retinal detachment, Cataract ORPHA:90654
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic necrosis, Hepatic steatosis, Acute hepatic failure ORPHA:71212
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:98293
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly OMIM:615085
Budd-Chiari Syndrome
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy OMIM:611131
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly ORPHA:100024
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Hepati... ORPHA:26791
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Retinal detachment, Cataract, Macular atrophy OMIM:212550
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Hemochromatosis, Type 4
Cirrhosis, Hepatic steatosis, Hepatomegaly OMIM:606069
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract OMIM:616468
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly OMIM:232400
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Elevated hepatic transaminase, P... ORPHA:88673
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly ORPHA:28
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hepatomegaly, Hepatic ... OMIM:618805
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute hepatic failure OMIM:615438
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase OMIM:613489
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Splenomegaly OMIM:603552
Pfapa Syndrome
Hepatomegaly, Splenomegaly ORPHA:42642
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Cataract, Corneal guttata OMIM:193230
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Ascites, Hepatomegaly ORPHA:2123
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:610333
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Jaundice, Splenomegaly OMIM:615631
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Peters anomaly, Op... OMIM:120200
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly OMIM:614741
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Abnormality of the liver ORPHA:254864
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly OMIM:615704
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly OMIM:618107
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Niemann-Pick Disease, Type B
Hepatomegaly, Splenomegaly OMIM:607616
Congenital Toxoplasmosis
Hepatomegaly, Elevated hepatic transaminase, Ascites, Jaundice, Cardiomegaly ORPHA:858
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly OMIM:500009
Harderoporphyria
Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Aniridia-Absent Patella Syndrome
Cryptorchidism, Cataract, Aniridia ORPHA:1069
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhosis, Macrovesicular ... OMIM:256810
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failur... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly OMIM:605309
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Cataract, Hypogonadism OMIM:160900
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hepatomegaly OMIM:615238
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Polycystic kidney dysplasia, Cataract OMIM:263100
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Hepatomegaly, Splenomegaly OMIM:300635
Combined Oxidative Phosphorylation Deficiency 9
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:614582
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Leber Congenital Amaurosis 8
Nummular pigmentation of the fundus, Pigmentary retinopathy, Keratoconus, Cataract, Macular coloboma OMIM:613835
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Card... OMIM:618278
Warburg Micro Syndrome 2
Small scrotum, Micropenis, Microcornea, Optic atrophy, Cataract, Developmental cataract, Cryptorc... OMIM:614225
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia OMIM:615415
Pyruvate Carboxylase Deficiency
Hepatomegaly OMIM:266150
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Immunodeficiency, Common Variable, 6
Hepatomegaly, Enlarged kidney OMIM:613496
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice OMIM:613839
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:611490
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated hepatic transaminase, Decreased carnitine level in liver, Hepatic steatosi... OMIM:212140
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ... ORPHA:53035
Gaucher Disease, Type Iii
Hepatomegaly, Splenomegaly OMIM:231000
Wolman Disease
Ascites, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75233
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly OMIM:608600
Thoraco-Abdominal Enteric Duplication
Hepatomegaly ORPHA:1759
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Cataract OMIM:146200
Mpi-Cdg
Decreased liver function, Hepatic fibrosis, Hepatomegaly, Portal hypertension ORPHA:79319
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly OMIM:613561
Galactosemia I
Decreased liver function, Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferas... OMIM:230400
Microphthalmia, Syndromic 5
Micropenis, Optic nerve hypoplasia, Microcornea, Ectopic posterior pituitary, Cataract, Cryptorch... OMIM:610125
Warburg Micro Syndrome 3
Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Hypoplastic labia minora, Catar... OMIM:614222
Wilson Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepa... ORPHA:905
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly OMIM:612714
Pleural Mesothelioma
Hepatomegaly ORPHA:50251
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly ORPHA:163596
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93476
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly OMIM:255120
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice OMIM:194380
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hepat... OMIM:261680
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly ORPHA:56425
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice OMIM:266200
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:201450
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly ORPHA:848
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, A... OMIM:235200
Hypermanganesemia With Dystonia 1
Cirrhosis, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase OMIM:613280
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, External genital hypoplasia, Cataract, Decreased testicular size, Cryptorchidism ORPHA:1867
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Splenomegaly OMIM:614470
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly ORPHA:158029
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Splenomegaly OMIM:616689
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Schnitzler Syndrome
Hepatomegaly, Splenomegaly ORPHA:37748
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... OMIM:263200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly OMIM:618495
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Macrovesicular hepatic ste... OMIM:613070
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, ... ORPHA:79303
Bardet-Biedl Syndrome 9
Retinal degeneration, Irregular menstruation, Astigmatism, Cataract, Renal insufficiency, Bone sp... OMIM:615986
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly ORPHA:98848
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly OMIM:240500
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly OMIM:607594
Developmental And Epileptic Encephalopathy 102
Hepatomegaly OMIM:619881
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612840
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure ORPHA:156
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly OMIM:230900
Hereditary Leiomyomatosis And Renal Cell Cancer
Vaginal neoplasm, Cataract, Uterine leiomyoma, Uterine leiomyosarcoma ORPHA:523
Porphyria Cutanea Tarda
Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma, Elevated hepat... ORPHA:101330
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly ORPHA:422
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Acute Liver Failure
Hepatocellular necrosis, Elevated hepatic transaminase, Hepatitis, Hepatic periportal necrosis, H... ORPHA:90062
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated ... ORPHA:367
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Clitoral hypoplasia, ... ORPHA:2510
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis... ORPHA:30391
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly ORPHA:79085
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Ascites, Hepatomegaly, Splenomegaly OMIM:615122
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... OMIM:606003
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly OMIM:619375
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Hepatic fibrosis OMIM:615630
Immunodeficiency 54
Hepatomegaly, Splenomegaly OMIM:609981
Trichohepatoenteric Syndrome 2
Cirrhosis, Chronic hepatitis, Hepatomegaly OMIM:614602
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly ORPHA:50812
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly OMIM:228000
X-Linked Lymphoproliferative Disease
Decreased liver function, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Fulminant hepatitis,... ORPHA:2442
Chromosome Xp11.3 Deletion Syndrome
Posterior subcapsular cataract, Pigmentary retinopathy, Optic atrophy, Cataract, Cryptorchidism OMIM:300578
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly ORPHA:85414
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldosterone leve... OMIM:240300
Peroxisome Biogenesis Disorder 10B
Cataract, Nephrocalcinosis, Neurogenic bladder OMIM:617370
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... ORPHA:456312
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Hepatic failure OMIM:602579
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Cataract, Renal insufficiency, Proteinuria, Anterior le... OMIM:203780
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79477
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:391
Pierson Syndrome
Remnants of the hyaloid vascular system, Nephrotic syndrome, Diffuse mesangial sclerosis, Retinal... OMIM:609049
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Microcornea, Iris coloboma, Cataract, Cryptorchid... ORPHA:139471
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:435651
Proximal Myotonic Myopathy
Cataract ORPHA:606
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Microcornea, Optic atrophy, Iris coloboma, Cataract, Septo-optic dy... ORPHA:3301
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly OMIM:205400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Right ventricular hypertrophy, Ele... OMIM:613404
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Macul... OMIM:120330
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ascites, Hepatomegaly, Abnormality of the peritoneum ORPHA:83469
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Nephropathy, Cataract ORPHA:2238
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Hepatomegaly OMIM:615182
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly OMIM:619183
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly OMIM:614862
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Jaundice, Cholangitis OMIM:607626
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:615381
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Cirrhosis, Congenital hepatic fi... ORPHA:480520
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrh... OMIM:216360
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly OMIM:610678
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomega... ORPHA:231222
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Heme Oxygenase 1 Deficiency
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:614034
Joubert Syndrome 8
Hepatomegaly, Prolonged neonatal jaundice OMIM:612291
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatic failure ORPHA:228305
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Cholestasis, Hepatocellular aden... ORPHA:370
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Cat... OMIM:157640
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... OMIM:615486
Aa Amyloidosis
Hepatomegaly, Cholestasis, Enlarged kidney ORPHA:85445
Cryoglobulinemic Vasculitis
Abnormality of the liver, Hepatomegaly, Viral hepatitis, Splenomegaly ORPHA:91138
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly OMIM:619053
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatic fibrosis, Hepatomegaly OMIM:601539
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Optic atrophy, Renal hypoplasia, Cataract, Hydronephrosis OMIM:617913
Reynolds Syndrome
Cirrhosis, Ascites, Hepatomegaly, Jaundice ORPHA:779
Cystic Echinococcosis
Cholestatic liver disease, Hepatomegaly, Peritoneal abscess, Abnormality of the pancreas, Hepatic... ORPHA:400
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, Hepatocellular carcinoma, Elev... ORPHA:2088
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Glycosuria, Renal Fanconi syndrome, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigm... OMIM:268315
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfe... ORPHA:158061
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Jaundice, Cardiomegaly OMIM:603903
Argininemia
Portal fibrosis, Hepatomegaly, Micronodular cirrhosis, Cholestasis OMIM:207800
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva... OMIM:300972
Omenn Syndrome
Hepatomegaly, Splenomegaly OMIM:603554
Hyperlipoproteinemia, Type Id
Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly OMIM:615947
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Jaundice, Hepatic cysts OMIM:613095
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Hepatic cys... ORPHA:100085
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly OMIM:612387
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
Niemann-Pick Disease, Type C1
Hepatomegaly, Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaundice, Fetal as... OMIM:257220
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly OMIM:229700
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... OMIM:614921
Immunodeficiency 92
Cholangitis, Hepatomegaly, Sclerosing cholangitis OMIM:619652
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Patent ductus arteriosus, Ascites, Hepatomegaly OMIM:617397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... OMIM:203700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Hepatocellular adenoma, Elevated hepatic tran... ORPHA:264580
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:171
Diaphanospondylodysostosis
Abnormal liver lobulation, Enlarged kidney OMIM:608022
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract, Anisocoria OMIM:619649
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly ORPHA:435660
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Testicular atrophy OMIM:300322
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Nephropathy, Hematuria, Lenticonus, Cataract, Renal insufficiency, Pro... OMIM:308940
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... OMIM:106210
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Enlarged kidney, Hepatic fibrosis, Polysplenia, Ascites OMIM:200995
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly OMIM:616026
Oculoauricular Syndrome
Microphakia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microcornea, Iris colob... OMIM:612109
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Splenomegaly ORPHA:379
Cirrhotic Cardiomyopathy
Hepatomegaly, Cirrhosis, Left ventricular hypertrophy, Ascites, Jaundice, Cardiomegaly ORPHA:57777
Norrie Disease
Remnants of the hyaloid vascular system, Corneal opacity, Abnormal pupil morphology, Uterine rupt... ORPHA:649
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias, Ectopia pupillae, Microcornea, Cataract, Sclerocornea OMIM:615877
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Jaundice, Biliary cirrhosis OMIM:613471
Gaucher Disease, Type I
Hepatomegaly, Hypersplenism, Splenomegaly OMIM:230800
Glycogen Storage Disease Xii
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Elevated circulating alanine aminotran... OMIM:611881
Gaucher Disease, Type Iiic
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:231005
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly ORPHA:100026
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Pigmentary retinopathy, Pe... OMIM:309801
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Iris coloboma, Cataract, Hypogonadism, Cryptorc... ORPHA:2250
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Micronodular cirrhosis ORPHA:98907
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice OMIM:224120
Meckel Syndrome
Urethral atresia, Male pseudohermaphroditism, Pancreatic fibrosis, Multicystic kidney dysplasia, ... ORPHA:564
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Acquired Generalized Lipodystrophy
Acute pancreatitis, Cirrhosis, Hepatic steatosis, Hepatomegaly ORPHA:79086
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Splenomegaly OMIM:301078
Citrullinemia, Classic
Cirrhosis, Hepatomegaly OMIM:215700
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Enlarged... OMIM:232220
Mosaic Trisomy 9
Abnormal liver lobulation, Patent ductus arteriosus, Asplenia ORPHA:99776
Dysbetalipoproteinemia
Acute pancreatitis, Hepatic steatosis, Hepatomegaly ORPHA:412
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure, Hepatocellular car... OMIM:276700
Ppoma
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Hepatomegaly, Extrahepatic... ORPHA:97278
Hardikar Syndrome
Decreased liver function, Hepatomegaly, Intrahepatic bile duct cysts, Intrahepatic bile duct dila... OMIM:301068
Argininosuccinic Aciduria
Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosis, Hepatomegaly OMIM:207900
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly OMIM:233710
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy ORPHA:555874
Liver Disease, Severe Congenital
Portal inflammation, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Increased ... OMIM:619991
Somatostatinoma
Neoplasm of the pancreas, Abnormal abdomen morphology, Gallbladder dysfunction, Hepatomegaly, Ext... ORPHA:97283
Microphthalmia, Syndromic 2
Adrenal insufficiency, Remnants of the hyaloid vascular system, Hypospadias, Retinal detachment, ... OMIM:300166
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly OMIM:233690
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Ectopic kidney, Cryptorchidism ORPHA:3063
Cystic Fibrosis
Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Bil... OMIM:219700
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... ORPHA:273
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Hepatomegaly, Hepatoblastoma OMIM:232240
Fructose Intolerance, Hereditary
Hepatomegaly, Jaundice, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis OMIM:229600
Neurofibromatosis Type 2
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract ORPHA:637
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy ORPHA:1677
Sarcoidosis
Decreased liver function, Hepatomegaly, Hepatic failure, Portal hypertension, Abnormal liver pare... ORPHA:797
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Peters anomaly,... OMIM:619539
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Iris coloboma, Anterior pituitary ag... OMIM:157170
Pmm2-Cdg
Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology ORPHA:79318

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 Clca2

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 Clca2.

No publications found that use IMPC mice or data for Clca2.

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MGI Allele Allele Type Produced
Clca2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Clca2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Clca2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Clca2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Clca2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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