Gene Summary

ATP-binding cassette, sub-family D (ALD), member 3
Pxmp1,  PMP70

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 fasting circulating glucose level Abcd3em1(IMPC)J HOM Early adult 2.24×10-06
decreased bone mineral content Abcd3em1(IMPC)J HOM   Late adult 2.80×10-05
decreased bone mineral density Abcd3em1(IMPC)J HOM Early adult 2.20×10-05
decreased grip strength Abcd3em1(IMPC)J HOM   Early adult 1.51×10-05
increased lean body mass Abcd3em1(IMPC)J HOM Late adult 6.68×10-10
decreased bone mineral density Abcd3em1(IMPC)J HOM Late adult 4.38×10-05
improved glucose tolerance Abcd3em1(IMPC)J HOM Late adult 1.08×10-06
increased fasting circulating glucose level Abcd3em1(IMPC)J HOM Late adult 2.03×10-06
increased grip strength Abcd3em1(IMPC)J HOM Late adult 4.23×10-05
increased circulating calcium level Abcd3em1(IMPC)J HOM   Late adult 4.31×10-05
increased lean body mass Abcd3em1(IMPC)J HOM Early adult 9.23×10-10
decreased total body fat amount Abcd3em1(IMPC)J HOM Late adult 3.88×10-08

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Electrocardiogram (ECG)

Waveform Image

6 Images


XRay Images Forepaw

9 Images


XRay Images Whole Body Dorso Ventral

9 Images


XRay Images Skull Dorso Ventral Orientation

9 Images


XRay Images Skull Lateral Orientation

9 Images


XRay Images Whole Body Lateral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Abcd3 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.

The table below shows human diseases associated to Abcd3 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Splenomegaly, Hepatic failure, Elevated hepatic ... OMIM:616278

The table below shows human diseases predicted to be associated to Abcd3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hypercalcemia, Pathologic fracture ORPHA:55881
Hyperparathyroidism 4
Hypercalcemia, Osteopenia OMIM:617343
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Osteoporosis, Gout, Impaired glucose tolerance, Hypercholest... OMIM:610947
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Inc... ORPHA:94086
Familial Isolated Hyperparathyroidism
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Osteopenia, Infantile hypercalcemia, Generali... ORPHA:99879
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Bone cyst ORPHA:2668
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Calvarial osteosclerosis, Osteopenia, Metacarpal periosteal thickening, Hyperphosp... OMIM:617994
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Hypercalcemia, Recurrent fractures, Craniosynostosis, Failure to thrive in infancy ORPHA:436
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:608600
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Chondrocalcinosis, Limitation of joint mobility, Osteolysis ORPHA:2591
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus OMIM:601410
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Cholestasis, Hepatic failure, Abnormal mitochondrial morphology, Elevated hepatic t... OMIM:618528
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly OMIM:306000
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Osteomalacia, Multiple lipomas OMIM:600740
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets, Rickets OMIM:612089
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypophosphatasia, Infantile
Decreased calvarial ossification, Hypercalcemia, Failure to thrive, Increased susceptibility to f... OMIM:241500
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia OMIM:615883
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosp... ORPHA:405
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Splenomegaly, Hepatic failure, Elevated hepatic ... OMIM:616278
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypocalcemia ORPHA:163693
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Hypophosphatemia, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabecular... ORPHA:93160
Fibrous Dysplasia Of Bone
Hypercalcemia, Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Hypophosphatemia, Abnor... ORPHA:249
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... OMIM:301045
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly ORPHA:1980
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hip contracture, Hypophosphatemia, Knee flexion contracture, Osteopenia, Pathologi... OMIM:156400
Rhabdoid Tumor
Hypercalcemia, Weight loss ORPHA:69077
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... OMIM:618858
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture OMIM:618856
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Late-Onset Isolated Acth Deficiency
Hypercalcemia, Hyponatremia, Hypoglycemia, Generalized bone demineralization, Failure to thrive, ... ORPHA:199299
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Splenomegaly OMIM:237800
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepat... OMIM:613812
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice OMIM:605479
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas OMIM:145981
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss, Osteopenia ORPHA:97289
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hypocalcemic seizures, Calvarial... ORPHA:93324
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Oculocerebrodental Syndrome
Hypercalcemia, Enamel hypoplasia, Hypocalcemia ORPHA:557003
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Increased blood urea nitrogen... ORPHA:251004
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia OMIM:615363
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Infantile hypercalcemia OMIM:143880
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... OMIM:606176
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:618549
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density, Hyperinsulinemia OMIM:618406
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Loss of subcutaneous adipose tissue i... OMIM:604367
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Ascites, Jaundice ORPHA:890
Erythrocytosis, Familial, 8
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:222800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Splenomegaly OMIM:608971
Glucose-Galactose Malabsorption
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia ORPHA:35710
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hypocalcemic tetany, Hypocalcemic seizures, Diaphysea... ORPHA:94089
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Hypophosphatemic Rickets
Hypercalcemia, Fibrous dysplasia of the bones, Rickets, Failure to thrive, Hyperostosis, Hypophos... ORPHA:437
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Hypophosphatemia, Hypocalcemia, Rickets ORPHA:89937
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Hypocalcemia, Pathologic fracture OMIM:179800
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Pancreatitis OMIM:243300
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalcemia, Rec... ORPHA:53
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Elbow flexion contracture, Hypocalcemia OMIM:618440
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Splenomegaly, Cirrhosis, Neonatal choles... ORPHA:1414
Addison Disease
Hyperkalemia, Hyponatremia, Hypercalcemia, Hypoglycemia, Generalized bone demineralization, Failu... ORPHA:85138
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:235700
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Failure to thrive, Hypophosphatemia, Recurrent fractures OMIM:239200
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Hypocalcemic seizures, Rickets, Failure to thrive, Increased susceptibility to ... ORPHA:289157
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hyperph... ORPHA:36913
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:266200
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Cholestasis, Jaundice OMIM:614887
Dubin-Johnson Syndrome
Abnormality of the liver, Hepatomegaly, Biliary tract abnormality, Jaundice ORPHA:234
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Hypercalcemia, Recurrent fractures, Osteoporosis ORPHA:98292
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Path... OMIM:259700
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly OMIM:614870
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Hepatic failure, Ele... OMIM:607765
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Parathyroid Carcinoma
Hypercalcemia, Chondrocalcinosis, Weight loss, Osteoporosis, Hypophosphatemia, Infantile hypercal... ORPHA:143
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Failure to thrive, Weight loss, Hyperuri... ORPHA:95409
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Chondrocalcinosis, Hypokalemia, Small for gestational age, Increased serum prostag... OMIM:601678
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Oste... ORPHA:29073
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic cholesta... OMIM:235555
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Klatskin Tumor
Hepatomegaly, Extrahepatic cholestasis, Cholangiocarcinoma, Jaundice ORPHA:99978
Monosomy 13Q34
Obesity, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Chondrocalcinosis, Osteoporosis, Hypophosphatemia, Infantile hypercalcemia, Lipoma ORPHA:99880
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hepatomegaly, Splenomegaly OMIM:615234
Refractory Celiac Disease
Hypoproteinemia, Weight loss, Osteoporosis, Hypophosphatemia, Hypocalcemia, Hypomagnesemia, Hypoa... ORPHA:398063
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Hypoglycemia, Subcutaneous lipoma OMIM:131100
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Hepatomegaly, Ascites, Gallbladder dysfunction, Neoplasm of the pancreas, Extrahepatic cholestasi... ORPHA:97283
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Craniosynostosis, Osteopenia, Joint hypermobility, Hypertriglyceridemia, Obesity ORPHA:369837
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Cirrhosis, Hepatosplenomegaly, E... OMIM:616860
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia OMIM:244460
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly OMIM:602390
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency ORPHA:586
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Hypercalcemia, Hypokalemia, Weight loss, Subcutaneous lipoma, Diabetes mellitus ORPHA:97282
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypoglycemia, Hypokalemia, Weight loss, H... ORPHA:88673
Glycogen Storage Disease Xii
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:611881
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelithiasis, Splenom... ORPHA:53035
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Zollinger-Ellison Syndrome
Hypercalcemia, Weight loss, Lipoma, Increased glucagon level, Multiple lipomas ORPHA:913
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... OMIM:151660
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly OMIM:615285
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Hepatic necrosis, Hepatic fibrosis ORPHA:33402
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Arthritis, Osteomyelitis, Hypocalcemia, Cellulitis ORPHA:47
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis OMIM:607361
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly OMIM:613673
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Celiac Disease, Susceptibility To, 1
Rickets, Failure to thrive, Weight loss, Osteoporosis, Enamel hypoplasia, Type I diabetes mellitu... OMIM:212750
Gallbladder Neuroendocrine Tumor
Ascites, Biliary tract obstruction, Biliary tract neoplasm, Extrahepatic cholestasis, Cholecystit... ORPHA:100086
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Ascites OMIM:619433
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Portal hypertension, Liver abscess OMIM:600643
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Hypercalcemia, Weight loss, Diabetes mellitus, Subcutaneous lipoma ORPHA:97280
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly ORPHA:66661
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Thickened cortex of long bones, Increased bone mineral density, Hypoca... OMIM:127000
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Rickets, Failure to thrive, Impaired glucose tolerance, Hypophosphatemia, G... ORPHA:2088
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Macrovesicular hep... OMIM:256810
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Subcutaneous lipoma, Incr... ORPHA:276152
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Splenomegaly, Cirrhosis, Hepatic ... OMIM:278000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Hypocalcemia OMIM:618476
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Osteoporosis, Abdominal obesity, Increased body weight OMIM:615954
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypophosphatemia, Patholog... ORPHA:352540
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Glycosuria, Small for gestational age, Type I diabetes mellitus OMIM:618857
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Propionic Acidemia
Hepatomegaly ORPHA:35
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Osteoporosis, Enamel hypoplasia, Obesity, Hyperphosphatemia OMIM:612462
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Splenomegaly OMIM:185000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypoketotic hypoglycemia, Small for gestational age, Elevated circulating creati... ORPHA:26793
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly OMIM:615438
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypotriglyce... ORPHA:2298
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Hepatomegaly, Splenomegaly OMIM:615631
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hepatic ... OMIM:618805
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Gracile Bone Dysplasia
Failure to thrive, Decreased skull ossification, Hypocalcemia OMIM:602361
Short Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intoleranc... OMIM:269880
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Ectopic ossification, Enamel hypoplasia, ... ORPHA:79444
Hemochromatosis, Type 1
Hepatomegaly, Hepatocellular carcinoma, Ascites, Azoospermia, Cardiomegaly, Splenomegaly, Cirrhos... OMIM:235200
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Hepatic fibrosis, Hepatic failure OMIM:602579
Wilson Disease
Hepatomegaly, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute hepat... ORPHA:905
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated hepatic transaminase OMIM:600649
Hypercalcemia, Weight loss, Subcutaneous lipoma ORPHA:97278
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice OMIM:194380
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney OMIM:615415
Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Cachexia, Hypokalemia, Hypocalcemia OMIM:175500
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Osteoporosis, Enamel hypoplasia, Obesity, Hyperphosphatemia OMIM:103580
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Hyperglycemia, Weight loss, Osteoporosis, Arthritis, Elevated tr... ORPHA:465508
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Hepatomegaly, Sclerosing cholangitis, Pancreatitis, Jaundice OMIM:260480
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Ectopic ossification, Reduced bone minera... ORPHA:79443
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly OMIM:615085
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Hypoglycemia, Unconjugated hyperbilirubinemia, Rickets, Small for gestational a... OMIM:613658
Hyponatremia, Hypoglycemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration ORPHA:173
Hypercalcemia, Weight loss, Subcutaneous lipoma ORPHA:97261
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Multiple lipomas, Increased susceptibility to fractures, Weight loss, Reduced bone... ORPHA:652
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Reduced subcutaneous adipose tissue, Joint laxity ORPHA:653
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Ele... OMIM:614582
Hypercalcemia OMIM:171300
Williams-Beuren Syndrome
Hypercalcemia, Failure to thrive in infancy, Radioulnar synostosis, Glucose intolerance, Osteopor... OMIM:194050
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Diabetes mel... OMIM:609069
Fish-Eye Disease
Hepatomegaly, Splenomegaly ORPHA:79292
Intrahepatic Cholestasis Of Pregnancy
Ascites, Abnormality of the pancreas, Cholecystitis, Elevated hepatic transaminase, Jaundice ORPHA:69665
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Hypokalemia, Insulin resistance,... ORPHA:358
Williams Syndrome
Hypercalcemia, Failure to thrive in infancy, Type II diabetes mellitus, Abnormal circulating lipi... ORPHA:904
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia ORPHA:746
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Hypocalcemia OMIM:607143
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density ORPHA:428
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... ORPHA:411634
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas ORPHA:3376
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly OMIM:618107
Decreased liver function, Hepatomegaly, Portal hypertension, Hepatic fibrosis ORPHA:79319
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:615512
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Splenomegaly OMIM:612714
Wolman Disease
Hepatomegaly, Hepatic failure, Ascites, Splenomegaly ORPHA:75233
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Cachexia, Hypocalcemia, Osteomyelitis, ... ORPHA:37042
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:611490
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypomagnesemia, Hypocalcemia ORPHA:90362
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Ascites, Cirrhosis, Decreased liver function, Hepatosplenomegaly, Hepatic failure, ... ORPHA:367
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly OMIM:605309
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... OMIM:263200
Hypermanganesemia With Dystonia 1
Cirrhosis, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase OMIM:613280
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Beta-Thalassemia Intermedia
Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Cholelithiasis, Sple... ORPHA:231222
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Hepatomegaly, Splenomegaly OMIM:616689
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... ORPHA:2869
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Hepatocellular adenoma... ORPHA:370
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... ORPHA:400
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... ORPHA:171
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly ORPHA:163596
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Jaundice OMIM:603903
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Inguinal hernia, Hypocalcemia OMIM:235255
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:615486
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Abnormality of mesentery morphology ORPHA:2075
Hypercalcemia, Bone cyst, Weight loss, Scarring ORPHA:797
Sotos Syndrome
Ankle flexion contracture, Hypercalcemia, Bilateral camptodactyly, Hip contracture, Craniosynosto... ORPHA:821
Q Fever
Hepatomegaly, Hepatitis, Splenomegaly, Abnormality of the liver, Hepatosplenomegaly, Cholecystiti... ORPHA:781
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Cholangitis, Jaundice OMIM:607626
Cartilage-Hair Hypoplasia
Failure to thrive, Limited elbow extension, Hypocalcemia, Abnormal bone ossification, Abnormally ... ORPHA:175
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Accessory... OMIM:300972
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Craniosynostosis, Hypophosphatemia, Reduced bone mineral density, Hypocalcemia, Re... ORPHA:667
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia OMIM:228100
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Pearson Syndrome
Hypokalemia, Small for gestational age, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagnes... ORPHA:699
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Inguinal hernia, Hypocalcemia ORPHA:1655
Hepatomegaly, Micronodular cirrhosis, Portal fibrosis, Cholestasis OMIM:207800
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Septic arthritis, Diabetes mellitus, Hypocalcemia ORPHA:544482
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Cirrhosis, Hepatic failure, Cholecystitis, Portal hypertension ORPHA:774
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Elevated circulating creatine kinase concentration, Osteopetrosis, Hypocalcemi... ORPHA:2785
Cranioectodermal Dysplasia 1
Osteoporosis, Enamel hypoplasia, Hypocalcemia, Sagittal craniosynostosis, Joint laxity OMIM:218330
Acrodysostosis With Multiple Hormone Resistance
Obesity, Hyperphosphatemia, Diabetes mellitus, Hypocalcemia ORPHA:280651
Vacterl/Vater Association
Abnormality of the gallbladder, Abnormality of the pancreas ORPHA:887
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hypocalcemic seizures, Calvarial... ORPHA:93325
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hepatosplenomegaly, Cholelithiasis, Cholecystitis OMIM:301066
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Biliary cirrhosis, Jaundice OMIM:613471
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia ORPHA:73224
Neutral Lipid Storage Myopathy
Hepatomegaly, Hepatic steatosis, Chronic pancreatitis, Cholecystitis, Elevated hepatic transaminase ORPHA:98908
Rett Syndrome
Cholecystitis ORPHA:778
Tyrosinemia, Type I
Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cirrhosis, Pancreatic islet-cell h... OMIM:276700
Velocardiofacial Syndrome
Inguinal hernia, Umbilical hernia, Hypocalcemia OMIM:192430
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Hardikar Syndrome
Cholangitis, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Intrahepatic bile duc... OMIM:301068
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatomegaly, Hepatic fibrosis OMIM:601539
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Cholangitis, Cholecystitis, Liver abscess ORPHA:183675
22Q11.2 Deletion Syndrome
Failure to thrive, Abnormal dental enamel morphology, Arthritis, Inguinal hernia, Multiple suture... ORPHA:567
Atypical Werner Syndrome
Type II diabetes mellitus, Chondrocalcinosis, Insulin-resistant diabetes mellitus, Hyperglycemia,... ORPHA:79474
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Contractures of the joints of the lower limbs, Failure to thrive, Weight loss, Art... ORPHA:99885
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hyperextensibility of the finger joints, Hypocalcemia ORPHA:163979
Hennekam Syndrome
Craniosynostosis, Camptodactyly of finger, Hypocalcemia ORPHA:2136
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Splenic abscess, Peritonitis, Jaundice, Cholecystitis, Hepatic granulomatosis, Liver abscess ORPHA:533
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Failure to thrive, Reduced subcutaneous adipose tissue, Arthrogryposis multiplex... OMIM:619503
Digeorge Syndrome
Umbilical hernia, Hypocalcemia, Obesity, Inguinal hernia, Femoral hernia OMIM:188400
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Ascites, Splenomegaly, Hemoperitoneum, Acute pancreatitis, Hepatic failure, Cholecy... ORPHA:99827
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Retroperitoneal fibrosis, Pancreatitis, Decreased liver func... ORPHA:449395
Johanson-Blizzard Syndrome
Small for gestational age, Failure to thrive, Increased VLDL cholesterol concentration, Diabetes ... OMIM:243800
Wolf-Hirschhorn Syndrome
Abdominal situs inversus, Abnormality of the gallbladder ORPHA:280
Kawasaki Disease
Hepatitis, Cholecystitis, Jaundice ORPHA:2331
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder ORPHA:818
Thymic Aplasia
Failure to thrive, Hypocalcemic tetany ORPHA:83471
Gaisböck Syndrome
Cholecystitis ORPHA:90041
Charge Syndrome
Omphalocele, Umbilical hernia, Hypocalcemia OMIM:214800


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 Abcd3

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 Abcd3.

No publications found that use IMPC mice or data for Abcd3.

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MGI Allele Allele Type Produced
Abcd3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Abcd3em1(IMPC)J Exon Deletion Mice
Abcd3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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