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Gene: Pex3 MGI:1929646

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Gene Summary

Name:
peroxisomal biogenesis factor 3
Synonyms:
1700014F15Rik,  2900010N04Rik,  2810027F19Rik

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
decreased circulating cholesterol level Pex3tm1a(EUCOMM)Wtsi HOM Early adult 1.36×10-06
decreased body weight Pex3tm1a(EUCOMM)Wtsi HOM   Early adult 9.93×10-07
abnormal eye morphology Pex3tm1a(EUCOMM)Wtsi HOM Early adult 2.58×10-07
corneal vascularization Pex3tm1a(EUCOMM)Wtsi HOM   Early adult 2.56×10-05
abnormal tail morphology Pex3tm1a(EUCOMM)Wtsi HOM Early adult 3.01×10-06
increased bone mineral density Pex3tm1a(EUCOMM)Wtsi HOM Early adult 2.57×10-06
decreased circulating serum albumin level Pex3tm1a(EUCOMM)Wtsi HOM Early adult 7.00×10-06
decreased circulating HDL cholesterol level Pex3tm1a(EUCOMM)Wtsi HOM Early adult 8.67×10-05
abnormal cornea morphology Pex3tm1a(EUCOMM)Wtsi HOM Early adult 9.69×10-16
abnormal eye size Pex3tm1a(EUCOMM)Wtsi HOM Early adult 3.65×10-12
decreased total body fat amount Pex3tm1a(EUCOMM)Wtsi HOM Early adult 8.06×10-10
decreased circulating LDL cholesterol level Pex3tm1a(EUCOMM)Wtsi HOM Early adult 1.97×10-07
abnormal vertebrae morphology Pex3tm1a(EUCOMM)Wtsi HOM   Early adult 4.16×10-05
decreased circulating total protein level Pex3tm1a(EUCOMM)Wtsi HOM Early adult 8.69×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

14 Images

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DSS Histology

Images

16 Images

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Legacy Phenotype Associated Images
Pex3tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Pex3tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Pex3tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Pex3tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Pex3tm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 101 images

Pex3tm1a(EUCOMM)Wtsi
eye, persistence of hyaloid vascular system, HOM, Male, WTSI
Pex3tm1a(EUCOMM)Wtsi
eye, abnormal cornea morphology, HOM, Female, WTSI
Pex3tm1a(EUCOMM)Wtsi
eye, corneal vascularization, corneal opacity, HOM, Female, WTSI
Pex3tm1a(EUCOMM)Wtsi
eye, corneal vascularization, corneal opacity, HOM, Male, WTSI
Pex3tm1a(EUCOMM)Wtsi
eye, abnormal pupil morphology, HOM, Male, WTSI

View all 7 images

Pex3tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Pex3tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Pex3tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Pex3tm1a(EUCOMM)Wtsi
abnormal sebaceous gland morphology, HOM, Female, WTSI
Pex3tm1a(EUCOMM)Wtsi
abnormal hair follicle bulge morphology, HOM, Female, WTSI
Pex3tm1a(EUCOMM)Wtsi
kinked tail, HOM, Male, WTSI

Human diseases caused by Pex3 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 Pex3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Cataract OMIM:614882
Zellweger Syndrome
Failure to thrive, Cataract, Corneal opacity, Brushfield spots, Epiphyseal stippling, Posterior e... ORPHA:912
Infantile Refsum Disease
Cataract, Elevated circulating phytanic acid concentration, Cardiomyopathy, Arrhythmia, Failure t... ORPHA:772
Neonatal Adrenoleukodystrophy
Cataract ORPHA:44
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370

The table below shows human diseases predicted to be associated to Pex3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral microphthalmos, Microcornea, H... ORPHA:2334
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Buschke-Ollendorff Syndrome
Joint stiffness, Connective tissue nevi, Osteopoikilosis, Flexion contracture, Scoliosis OMIM:166700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Lymphopenia, Hypoproteinemia ORPHA:1116
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Sclerotic vertebral endplates, Clavicular scle... OMIM:615198
Lymphangiectasia, Intestinal
Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Reduced systolic function, Failure to thrive in infancy, Dilated cardiomyopathy, Hypoal... OMIM:618805
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Flynn-Aird Syndrome
Alopecia, Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Osteoporosis... OMIM:136300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis ORPHA:88643
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Vernal Keratoconjunctivitis
Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea... ORPHA:70476
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Scoliosis, Hypopitu... OMIM:619013
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c... OMIM:616834
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... OMIM:241600
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... OMIM:603554
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Autoinflammation With Arthritis And Dyskeratosis
Elevated circulating C-reactive protein concentration, Keratoconjunctivitis sicca, Punctate kerat... OMIM:617388
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Flexion contracture, Hypoproteinemia, Cataract OMIM:608093
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi... OMIM:209950
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration, Scoliosis ORPHA:79320
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina... ORPHA:26793
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Nail dystrophy, S... OMIM:615895
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Primary Intestinal Lymphangiectasia
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... ORPHA:90362
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Abnormality of the vertebral column OMIM:602475
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Decrea... ORPHA:3319
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern, Failure to thrive, Hypoproteinemia, Anemia ORPHA:2315
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis OMIM:208920
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology, Hypertension ORPHA:1879
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine concentration, Hypo... OMIM:608104
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Cardiomyopathy, Hypoalbuminemia, Scoliosis ORPHA:79327
Primary Membranoproliferative Glomerulonephritis
Hypertension, Hypoalbuminemia, Myocardial infarction ORPHA:54370
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Abnormally large globe, Short neck, Cryptorchidism, Pancreatic lymphangiectasis,... ORPHA:1655
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating c... OMIM:242150
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo... ORPHA:507
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We... ORPHA:103910
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Short neck, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hypocalce... OMIM:235255
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:618347
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Facet joint arthrosis,... ORPHA:566943
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency, Finger joint hypermobility, Short neck OMIM:615225
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid... OMIM:618156
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Fibronectin Glomerulopathy
Hypertension, Hypoalbuminemia, Cerebral hemorrhage ORPHA:84090
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Pancytope... OMIM:259700
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Hypopigmentation of hair, Hypertriglyceridemia, Panc... ORPHA:167
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Supernumerary nipple, Widow's peak, Supernumerary ribs, Six lumbar vertebrae, Jo... OMIM:619122
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Limb joint contracture, Small for gestational age, Achilles tendon contracture... ORPHA:404454
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Elevated circulating cre... OMIM:620366
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... ORPHA:2070
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failure to thrive, H... OMIM:266510
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... ORPHA:2485
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Scoliosis, Hypocholesterolemia OMIM:610883
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Cataract, Ovoid vertebral bodies, Short neck, Delayed patellar os... ORPHA:163649
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ... OMIM:278730
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Reticulocytosis, Kyphosco... ORPHA:14
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Mucopolysaccharidosis-Plus Syndrome
Short neck, Thrombocytopenia, Synophrys, Flexion contracture, Low anterior hairline, Splenomegaly... OMIM:617303
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Cataract, Microcornea, Iris transillumination defect, Osteopetros... OMIM:617306
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypertension, Hypoalbuminemia, Scoliosis... OMIM:610965
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia, Failure t... OMIM:607765
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy... OMIM:609049
Mpi-Cdg
Gastrointestinal hemorrhage, Failure to thrive, Hypoalbuminemia, Portal hypertension ORPHA:79319
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalb... OMIM:212065
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Kid Syndrome
Keratitis, Scarring alopecia of scalp, Corneal erosion, Delayed pubic bone ossification, Knee fle... ORPHA:477
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Generalized hi... OMIM:614856
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Corneal erosion, Flexion contracture, Atypical scarring ... ORPHA:89842
3Q29 Microdeletion Syndrome
Cataract, Joint hyperflexibility, Six lumbar vertebrae, Microphthalmia, Failure to thrive ORPHA:65286
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia OMIM:260450
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... ORPHA:29073
Alg12-Cdg
Hyponatremia, Cryptorchidism, Thrombocytopenia, Low posterior hairline, Abnormal bone ossificatio... ORPHA:79324
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Trichodentoosseous Syndrome
Abnormal hair morphology, Increased bone mineral density OMIM:190320
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Flexion contracture, Hypoa... ORPHA:367
Waardenburg Syndrome, Type 1
White eyelashes, White eyebrow, Synophrys, Blue irides, Premature graying of hair, White forelock... OMIM:193500
Autoimmune Hypoparathyroidism
Prolonged QT interval, Increased bone mineral density, Cataract, Ventricular arrhythmia, Abnormal... ORPHA:36913
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Corneal opacity, Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Nail dyst... ORPHA:79396
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Osteoporosis, Weight loss, Hepatosplenomegaly, Hypoalbuminemia, Scoliosis, Fail... OMIM:619487
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Reni Syndrome
Cryptorchidism, Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia OMIM:617575
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... ORPHA:540
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow, Developmental cataract, Hydrocele testis, Hypocholesterolemia OMIM:618810
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... OMIM:239000
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis... ORPHA:1667
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Thick hair, Joint stiffness, Short neck, Thrombocytopenia, Flexion contract... ORPHA:505248
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati... OMIM:127000
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... ORPHA:529799
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... ORPHA:232
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Cataract, Decreased response to growth hormone stimul... ORPHA:94089
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Inguinal hernia, Cataract, Failure to thrive, Abnormal dental enamel... ORPHA:567
Insulin-Resistance Syndrome Type B
Alopecia, Abnormal circulating lipid concentration, Enlarged ovaries, Abnormality of body weight,... ORPHA:2298
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia, Steatorrhea OMIM:602579
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Kyphosi... ORPHA:628
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... ORPHA:292
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Osteomyelitis, Failure to thrive in infancy, Autoimmune hemolytic anemia, Cachexia, Aut... ORPHA:37042
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoalbuminemia, S... OMIM:619055
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Polycor... OMIM:175780
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... OMIM:617093
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... OMIM:158310
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouric... OMIM:277900
Galloway-Mowat Syndrome 1
Cataract, Small for gestational age, Hiatus hernia, Hypoplasia of the iris, Hypoalbuminemia, Opac... OMIM:251300
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Inguinal hernia, Pancytopenia, Small for gestational age, Rickets, Redu... OMIM:613658
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:158048
Postaxial Acrofacial Dysostosis
Cryptorchidism, Radioulnar synostosis, Supernumerary nipple, Supernumerary vertebrae OMIM:263750
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Short neck, Low anterior hairline, Microcorne... ORPHA:800
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Bacterial Toxic-Shock Syndrome
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulatin... ORPHA:36234
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc... OMIM:607634
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Small for gestational age, Thrombocytosis, Increased mean platelet volu... OMIM:222470
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Spina bifida occulta, Hypoalbuminemia, Scoliosis, Camptodactyly, Umbilical hernia... OMIM:235510
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Supernumerary vert... OMIM:271520
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron con... OMIM:619991
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... ORPHA:85443
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... ORPHA:1782
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... ORPHA:848
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... OMIM:251880
Galloway-Mowat Syndrome 3
Hiatus hernia, Hypertension, Hypoalbuminemia, Camptodactyly, Microphthalmia, Failure to thrive OMIM:617729
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Failure to thrive, Hypernatremia, Hypoalbuminemia OMIM:615508
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... ORPHA:77297
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Cataract, Reduced bone mineral density, Abnormal cornea morphology, Scoliosis,... ORPHA:2611
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Hypoalbuminemia, Anemia, Weight loss ORPHA:67
Werner Syndrome
Sparse scalp hair, Increased bone mineral density, Cataract, Lipodystrophy, Lipoatrophy, Joint st... ORPHA:902
Trichothiodystrophy
Osteopenia, Brittle hair, Multiple joint contractures, Microcornea, Thoracic kyphosis, Conjunctiv... ORPHA:33364
Kaufman Oculocerebrofacial Syndrome
Ovoid vertebral bodies, Sparse eyebrow, Microcornea, Astigmatism, Hypocholesterolemia, Sparse hai... OMIM:244450
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Nail dystrophy, Hypo... ORPHA:31150
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Osteopetrosis, Failure to thrive, Anemia OMIM:615085
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Bile duct proliferation, Failure to thrive, Hypoalbuminemia OMIM:618329
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... OMIM:259720
Dubowitz Syndrome
Sparse scalp hair, Inguinal hernia, Sacral dimple, Aplastic anemia, Cryptorchidism, Acute lymphob... OMIM:223370
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Cataract, Hyperlordosis, Aortic valve stenosis, Osteopetrosis, Sc... ORPHA:2780
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Juvenile Polyposis Syndrome
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia OMIM:174900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... OMIM:618476
Warburg-Cinotti Syndrome
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the pha... OMIM:618175
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Cataract, Decreased response to growth hormone stimul... ORPHA:79444
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... ORPHA:324964
Sanjad-Sakati Syndrome
Hypoparathyroidism, Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Cr... ORPHA:2323
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Leukonychia, Weight loss, Sclerosi... ORPHA:2905
Pycnodysostosis
Joint laxity, Increased bone mineral density, Decreased response to growth hormone stimulation te... ORPHA:763
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... OMIM:144750
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Cataract, Decreased response to growth hormone stimul... ORPHA:79443
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Abnormal dental enamel morphology, Keratoconjunctivitis, Arthritis, ... ORPHA:2363
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... ORPHA:90363
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Osteoporosis, Hypoal... ORPHA:186
Beta-Thalassemia Intermedia
Osteopenia, Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia o... ORPHA:231222
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbuminemia, Hyper... OMIM:617156
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Curly hair, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex ORPHA:85184
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hepatic Lipase Deficiency
Hypertriglyceridemia, Angina pectoris, Corneal arcus, Increased HDL cholesterol concentration, Hy... OMIM:614025
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Juvenile Polyposis Of Infancy
Refractory anemia, Subcutaneous lipoma, Cachexia, Hypoalbuminemia, Anemia ORPHA:79076
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Premature graying of h... ORPHA:79474
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Marburg Hemorrhagic Fever
Back pain, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hype... ORPHA:99826
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:254900
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Weight loss, Hepatospleno... ORPHA:171
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Scoliosis, Scle... ORPHA:85188
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Cryptorchidism, Hyp... OMIM:241410
Dysostosis, Stanescu Type
Increased bone mineral density, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyp... ORPHA:1798
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased... OMIM:224300
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm... ORPHA:3240
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Cataract, Failure to thrive, Tarsal synostosis, Camp... ORPHA:90652
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Keratitis, Hypertension, Opacification of the corneal stroma, Recur... OMIM:308205
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Brittle Cornea Syndrome 1
Keratoconus, Joint laxity, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, D... OMIM:229200
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... ORPHA:355
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... OMIM:619381
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Short neck, Cryptorchidism, Flexion contracture, Failure to thrive, HbH hemogl... ORPHA:98791
Smith-Lemli-Opitz Syndrome
Sacral dimple, Cataract, Cryptorchidism, Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Ele... OMIM:270400
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Synophrys, Osteopoikilosis, Scoliosis, Failure to thrive, Thick eyebrow ORPHA:94063
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... ORPHA:846
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Enamel hypomineralization, Increased bone mineral den... ORPHA:3352
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Ar... OMIM:602398
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... ORPHA:89936
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean co... ORPHA:231226
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Raine Syndrome
Increased bone mineral density, Highly arched eyebrow, Short neck, Subperiosteal bone formation, ... OMIM:259775
Bone Marrow Failure Syndrome 3
Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, Hernia, Neutropenia, Sparse ... OMIM:617052
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Beta-Thalassemia Major
Hypoparathyroidism, Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean co... ORPHA:231214
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Fractures of the long bones, Os... OMIM:112250
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Short nail, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidis... OMIM:312870
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Kyphoscoliosis, Kyphosis, Phthisis bulbi... OMIM:259770
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Abnormal f... ORPHA:904
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Bicarbonaturia, Osteomalacia, Cryptorchidism,... OMIM:309000
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Ovoid vertebral bodies, Thromboc... OMIM:260400
Beemer-Ertbruggen Syndrome
Cryptorchidism, Increased bone mineral density, Thrombocytopenia ORPHA:1237
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia OMIM:144010
Pycnodysostosis
Increased bone mineral density, Spondylolysis, Osteolytic defects of the distal phalanges of the ... OMIM:265800
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin ORPHA:423479
Desmosterolosis
Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis ORPHA:35107
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventr... OMIM:259900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Congestive heart failure, Osteolysis, Weight loss,... ORPHA:35687
Primary Hyperoxaluria
Hyperoxaluria, Recurrent fractures, Heart block, Generalized osteosclerosis, Raynaud phenomenon, ... ORPHA:416
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt... ORPHA:2785
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hypoalbuminemia, Nail dystrophy OMIM:614748
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Cranial hyperostosis, Imbalan... ORPHA:330015
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Aortic regurgitation, Inguinal hernia, Tricuspid regurgitation, Left-to-right shunt, ... OMIM:619534
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hypopigmentation of hair, Osteopetrosis OMIM:618541
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Pmm2-Cdg
Osteopenia, Joint laxity, Multiple joint contractures, Lipodystrophy, Cataract, Elevated circulat... ORPHA:79318
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Persistence of hemoglobin F, Incr... OMIM:300946
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Cataract, Synostosis of joints, Platyspondyly ORPHA:50945
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Cleidocranial Dysplasia 1
Increased bone mineral density, Kyphosis, Delayed pubic bone ossification, Increased susceptibili... OMIM:119600
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Diamond-Blackfan Anemia 6
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia... OMIM:612561
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Phthisis bulbi, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow... OMIM:221900
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae, Joint hypermobility OMIM:617101
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Splenomegaly, Reduced bone mi... ORPHA:667
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Persistence of hemoglobin F, Astigmatism, Umbilical hernia OMIM:619769
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Short neck, Erythroid h... ORPHA:124
Oculoauricular Syndrome
Cataract, Sclerocornea, Phthisis bulbi, Spina bifida occulta, Developmental cataract, Microcornea... OMIM:612109
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Hypocalcemic seizures, Osteopetrosis, Anemia OMIM:612301
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Microcornea, Bupht... ORPHA:91495
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Abnormal cornea morphol... ORPHA:411629
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Cryptorchidism, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypo... OMIM:301040
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Short neck, Spina bifida occulta, Reticulocytop... OMIM:105650
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Cataract OMIM:614882
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ... ORPHA:99867
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Splenopancreatic fusion, Sc... OMIM:269150
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Joint stiffness, Cryptorchidism, Flexion contracture, Anemia ORPHA:847
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Sclerotic vertebral endplates, Cortically dense l... OMIM:269500
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Zellweger Syndrome
Failure to thrive, Cataract, Corneal opacity, Brushfield spots, Epiphyseal stippling, Posterior e... ORPHA:912
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Infantile Refsum Disease
Cataract, Elevated circulating phytanic acid concentration, Cardiomyopathy, Arrhythmia, Failure t... ORPHA:772
Neonatal Adrenoleukodystrophy
Cataract ORPHA:44
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370

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.

Phenotype Allele Zygosity Sex Life Stage
Testes - process of degenerative change Pex3tm1a(EUCOMM)Wtsi HOM Early adult
Eye with optic nerve - inflammation Pex3tm1a(EUCOMM)Wtsi HOM Early adult
Eye with optic nerve - developmental dysplasia Pex3tm1a(EUCOMM)Wtsi HOM Early adult

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 Pex3.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Germ cell-specific deletion of Pex3 reveals essential roles of PEX3-dependent peroxisomes in spermiogenesis. Journal of biomedical research (December 2023) Pex3tm1a(EUCOMM)Wtsi PMC10818173
The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear. Cells (October 2022) Pex3tm1a(EUCOMM)Wtsi PMC9600510
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pex3tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pex3tm1a(EUCOMM)Wtsi PMC6459510
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Pex3tm1a(EUCOMM)Wtsi PMC3996542

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pex3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pex3tm40041(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pex3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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