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Gene: Abcd3 MGI:1349216

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Gene Summary

Name:
ATP-binding cassette, sub-family D member 3
Synonyms:
Pxmp1,  PMP70

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal cholesterol homeostasis Abcd3em1(IMPC)J HOM Early adult 2.34×10-10
increased fasting circulating glucose level Abcd3em1(IMPC)J HOM Late adult 1.27×10-06
increased circulating calcium level Abcd3em1(IMPC)J HOM Late adult 6.22×10-05
decreased total body fat amount Abcd3em1(IMPC)J HOM Late adult 3.50×10-08
improved glucose tolerance Abcd3em1(IMPC)J HOM Late adult 1.34×10-06
decreased circulating triglyceride level Abcd3em1(IMPC)J HOM Early adult 1.00×10-09
decreased bone mineral content Abcd3em1(IMPC)J HOM   Late adult 2.60×10-05
increased circulating alkaline phosphatase level Abcd3em1(IMPC)J HOM Early adult 0.00
increased lean body mass Abcd3em1(IMPC)J HOM Early adult 2.76×10-08
increased grip strength Abcd3em1(IMPC)J HOM Late adult 5.60×10-05
increased circulating alkaline phosphatase level Abcd3em1(IMPC)J HOM Late adult 2.80×10-05
decreased bone mineral density Abcd3em1(IMPC)J HOM Early adult 1.86×10-05
increased fasting circulating glucose level Abcd3em1(IMPC)J HOM Early adult 8.56×10-07
increased lean body mass Abcd3em1(IMPC)J HOM Late adult 7.12×10-10
increased circulating total protein level Abcd3em1(IMPC)J HOM Early adult 4.70×10-07
increased circulating calcium level Abcd3em1(IMPC)J HOM Early adult 5.57×10-09
decreased grip strength Abcd3em1(IMPC)J HOM   Early adult 5.71×10-06
decreased bone mineral density Abcd3em1(IMPC)J HOM Late adult 2.71×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Auditory Brain Stem Response

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

8 Images

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Electrocardiogram (ECG)

Waveform Image

6 Images

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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
phenotypes		 Matching phenotypes Source
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... ORPHA:94086
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Gout, Hyperproteinemia, Increased c... ORPHA:90041
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperprote... ORPHA:29073
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... OMIM:610947
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu... OMIM:612526
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis ORPHA:99879
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Hypophosphatasia
Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Craniosynostosis ORPHA:436
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Chondrocalcinosis ORPHA:2591
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... OMIM:608600
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... ORPHA:398063
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Thymic Neuroendocrine Tumor
Osteopenia, Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97289
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:615158
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract... OMIM:241500
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hypoglycemia, Hypercalcemi... ORPHA:199299
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Rhabdoid Tumor
Hypercalcemia, Weight loss ORPHA:69077
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypocalcemia ORPHA:163693
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Fibrous Dysplasia Of Bone
Thin bony cortex, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones,... ORPHA:249
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp... ORPHA:93160
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphatemia, Pathologi... OMIM:156400
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis OMIM:145981
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cholestasis ORPHA:570422
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Oculoskeletodental Syndrome
Hypercalcemia, Enamel hypoplasia, Hypocalcemia ORPHA:557003
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Recurrent fractures, Hypercalcemia, Craniosynostosis, Obesity,... ORPHA:251004
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... ORPHA:405
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice OMIM:237800
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, We... ORPHA:95409
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hypoglycemia, Hypercalcemi... ORPHA:85138
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Hyperparathyroidism, Neonatal Severe
Calcinosis, Recurrent fractures, Hypercalcemia, Hypophosphatemia, Failure to thrive OMIM:239200
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites ORPHA:890
Oculoskeletodental Syndrome
Small for gestational age, Hypercalcemia, Elbow flexion contracture, Hypocalcemia OMIM:618440
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... OMIM:601678
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia ORPHA:89937
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:613470
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Monosomy 13Q34
Insulin resistance, Hypercalcemia, Obesity ORPHA:96168
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:264700
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:612462
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis OMIM:613313
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibilit... ORPHA:289157
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypoproteinemia OMIM:608093
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis OMIM:235700
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Joint hypermobility ORPHA:369837
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Hypocalcemia, Osteopetrosis, Pat... OMIM:259700
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypoglycemia, Hypercalcemia OMIM:131100
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato... ORPHA:369
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Johanson-Blizzard Syndrome
Failure to thrive, Diabetes mellitus, Hypoproteinemia ORPHA:2315
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos... OMIM:248370
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... OMIM:235555
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly OMIM:607685
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Parathyroid Carcinoma
Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Lipoma, Chondrocalcinosis ORPHA:143
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia... ORPHA:94089
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Dengue Fever
Hypoproteinemia ORPHA:99828
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Hepatomegaly OMIM:603902
Immunodeficiency 42
Splenomegaly, Hepatomegaly OMIM:616622
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia OMIM:244460
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... OMIM:616860
Leptospirosis
Hyperproteinemia ORPHA:509
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Hepatomegaly OMIM:133180
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Portal vein hypoplasia, Ascites OMIM:619433
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis ORPHA:99880
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Somatostatinoma
Diabetes mellitus, Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea ORPHA:97283
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Weight loss, Hypocalcemia, Type I diabetes mellitus, Enamel hypoplasia, Fa... OMIM:212750
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Arthrit... ORPHA:247353
X-Linked Agammaglobulinemia
Osteomyelitis, Weight loss, Arthritis, Hypocalcemia, Cellulitis, Failure to thrive ORPHA:47
Vipoma
Diabetes mellitus, Hypercalcemia, Weight loss, Hypokalemia, Increased circulating cortisol level ORPHA:97282
Hemochromatosis, Type 2A
Splenomegaly, Hepatomegaly, Azoospermia, Cirrhosis OMIM:602390
Zollinger-Ellison Syndrome
Hypercalcemia, Weight loss, Multiple lipomas, Lipoma, Increased glucagon level ORPHA:913
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Omenn Syndrome
Failure to thrive, Hypoproteinemia OMIM:603554
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Glucagonoma
Diabetes mellitus, Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea ORPHA:97280
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... OMIM:127000
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Hepatomegaly OMIM:618852
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Fanconi-Bickel Syndrome
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Glycosu... ORPHA:2088
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Fasting hyperinsulinemia, Increased circulating cortisol level, Hyperinsulinemic h... ORPHA:276152
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypocalcemia, Hypophosphat... ORPHA:352540
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Ppoma
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97278
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Ascites, ... ORPHA:100086
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis, Increased body weight, Abdominal obesity, Increased circulating cortisol level, Hyp... OMIM:615954
Pheochromocytoma
Hypercalcemia OMIM:171300
Gracile Bone Dysplasia
Failure to thrive, Decreased skull ossification, Hypocalcemia OMIM:602361
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Hypocalcemic tetany, Enamel ... OMIM:103580
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbumin... ORPHA:2298
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly ORPHA:66661
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glyco... OMIM:227810
Grfoma
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97261
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi... ORPHA:79444
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Inguinal hernia, Hypoglycemia, Small for gestational age, Rickets, Redu... OMIM:613658
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma... ORPHA:79303
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ... OMIM:235200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Osteolysis, Increased susceptibility to fractures, Reduced bone mineral density, W... ORPHA:652
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia ORPHA:173
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Failure to thrive, Hypoglycemia, Hypocalcemia OMIM:607143
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis f... ORPHA:79443
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Triploidy
Cryptorchidism, Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas ORPHA:3376
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hyper... OMIM:194050
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Inguinal hernia, Failure to thrive in i... ORPHA:904
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Bacterial Toxic-Shock Syndrome
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulatin... ORPHA:36234
Glycogen Storage Disease Xii
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... OMIM:611881
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Osteomyelitis, Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbu... ORPHA:37042
Multiple Endocrine Neoplasia Type 2
Joint laxity, Reduced subcutaneous adipose tissue, Hypercalcemia ORPHA:653
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Splenomegaly, Hepatomegaly, Jaundice, Exocrine pancreatic insufficiency OMIM:612714
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Hepatomegaly, Azoospermia, Elevated hepatic iron concentration OMIM:615234
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia ORPHA:746
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Gitelman Syndrome
Maternal diabetes, Insulin resistance, Hypermagnesemia, Gout, Glucose intolerance, Hypokalemia, D... ORPHA:358
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ... OMIM:259720
Fish-Eye Disease
Splenomegaly, Hepatomegaly ORPHA:79292
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Liver Disease, Severe Congenital
Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Increased circu... OMIM:619991
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Cholecystitis, Ascites ORPHA:69665
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... ORPHA:231222
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... ORPHA:2869
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Prolonged neonatal jaundice OMIM:185000
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder ORPHA:2075
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly OMIM:620296
Sarcoidosis
Scarring, Bone cyst, Hypercalcemia, Weight loss ORPHA:797
Triosephosphate Isomerase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis OMIM:615512
Sotos Syndrome
Joint laxity, Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Cranios... ORPHA:821
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Joint hyperflexibility, Hypocalcemia, Abnormal bone ossification, ... ORPHA:175
Pearson Syndrome
Diabetes mellitus, Small for gestational age, Hypomagnesemia, Steatorrhea, Glycosuria, Hypokalemi... ORPHA:699
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Jaundice OMIM:616689
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Hypocalcemia, Osteopetrosis,... ORPHA:667
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... ORPHA:171
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Abnorma... ORPHA:781
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Pierson Syndrome
Hypoproteinemia OMIM:609049
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Elevated circulating creatine kinase concentration, Osteopetrosis, Hypocalce... ORPHA:2785
Argininemia
Hepatomegaly, Micronodular cirrhosis, Portal fibrosis, Cholestasis OMIM:207800
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure ORPHA:774
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Septic arthritis ORPHA:544482
Vacterl/Vater Association
Abnormality of the pancreas, Abnormality of the gallbladder, Cryptorchidism ORPHA:887
Cranioectodermal Dysplasia 1
Joint laxity, Inguinal hernia, Sagittal craniosynostosis, Osteoporosis, Hypocalcemia, Enamel hypo... OMIM:218330
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decreased sku... ORPHA:93325
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Velocardiofacial Syndrome
Umbilical hernia, Inguinal hernia, Hypocalcemia OMIM:192430
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly OMIM:301066
Isotretinoin-Like Syndrome
Inguinal hernia, Hypocalcemia ORPHA:2306
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Cholecystitis, Hepatic steatosis ORPHA:98908
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Hennekam Syndrome
Camptodactyly of finger, Hypocalcemia, Craniosynostosis ORPHA:2136
Rett Syndrome
Cholecystitis ORPHA:778
22Q11.2 Deletion Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Multiple suture craniosynostosis, Jo... ORPHA:567
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Liver abscess, Cholangitis, Cholecystitis ORPHA:183675
Juvenile Polyposis Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2929
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis OMIM:613471
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Reduced subcutaneous adip... OMIM:619503
Listeriosis
Liver abscess, Jaundice, Peritonitis, Hepatic granulomatosis, Cholecystitis, Splenic abscess ORPHA:533
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Orchitis, Splenomegaly, Jaundice, Hemoperitoneum, Ascites, Chol... ORPHA:99827
Kawasaki Disease
Jaundice, Hepatitis, Cholecystitis ORPHA:2331
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Failure to thrive ORPHA:83471
Wolf-Hirschhorn Syndrome
Cryptorchidism, Abnormality of the gallbladder, Abdominal situs inversus ORPHA:280
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Abnormality of the gallbladder ORPHA:818
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Umbilical hernia, Hypocalcemia OMIM:620330
Igg4-Related Kidney Disease
Retroperitoneal fibrosis, Abnormal mesentery morphology, Sclerosing cholangitis, Cholecystitis, D... ORPHA:449395
Johanson-Blizzard Syndrome
Joint laxity, Diabetes mellitus, Small for gestational age, Increased VLDL cholesterol concentrat... OMIM:243800
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Obesity, Hypocalcemia, Umbilical hernia OMIM:188400
Charge Syndrome
Omphalocele, Umbilical hernia, Hypocalcemia OMIM:214800

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 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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis. Journal of inherited metabolic disease (October 2021) Abcd3em1(IMPC)J 34564857

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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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