Gene Summary

Name:
radixin
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
female infertility Rdxtm1.1(KOMP)Vlcg HOM Early adult 0.00
increased mean corpuscular hemoglobin Rdxtm1.1(KOMP)Vlcg HET Early adult 3.19×10-05
preweaning lethality, incomplete penetrance Rdxtm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
N/A Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

45 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Forepaw

12 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

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

8 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Hearing impairment, Tremor, Abnorma... ORPHA:79234
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Hyperbilirubinemia, Sensorineural hearing impairment, Hepatic steatosis, Decreas... OMIM:614300
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Hearing impairment, Intrahepatic cholestasis with episodic jaundice, ... OMIM:243300
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Mildly elevated creatine kinase, H... ORPHA:95433
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Biliary tract abnormality, Jaundice OMIM:237500
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Rotor Syndrome
Intermittent jaundice, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Jaundice ORPHA:3111
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Incr... OMIM:616278
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hearing impairment ORPHA:101009
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... OMIM:612310
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... OMIM:605814
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529799
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global brain atro... ORPHA:52368
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... OMIM:251880
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, EEG abnormality, Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:617519
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Increased total bilirubin, Jaundice ORPHA:890
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613673
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Cholestatic liver disease, Conjugated hyperbilirubinemia, Elevated hepatic ... OMIM:613404
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Hypercholesterolemia, Cirrhosis, Elevate... OMIM:619662
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Axona... OMIM:601596
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Vestibular hypofunction, Cerebral... ORPHA:231169
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Polycystic liver disease OMIM:174050
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Abnormal circulating thyroglobulin level, Prolonged neonatal ja... ORPHA:95716
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Lipoyltransferase 1 Deficiency
Decreased liver function, Cerebellar atrophy, Increased total bilirubin, Elevated hepatic transam... OMIM:616299
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Hepatoportal Sclerosis
Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver, Splenome... ORPHA:64743
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis OMIM:609734
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Bachmann-Bupp Syndrome
Sensorineural hearing impairment, Cupped ear, Hyperbilirubinemia OMIM:619075
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Cholestatic liver disease, Conjugated hyperbilirubinemia, Elevated hepatic ... OMIM:208085
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hepatomegaly, Optic disc pallor, Hyperbilirubinemia, Splenomegaly, Hepatic failure... OMIM:259720
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Congenital sensorineural hearing impairment, Sensorineural hearing i... ORPHA:73272
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Jau... ORPHA:247598
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... ORPHA:158057
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Cirrhosis, Increased circulating... OMIM:616860
Dubin-Johnson Syndrome
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Biliary tract abnormality,... ORPHA:234
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia, Cholestasis, Hepatic failure, Cerebral atrophy OMIM:606812
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Tremor, Cirrhosis, Decreased li... OMIM:613280
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Orthostati... ORPHA:186
Infantile Sialic Acid Storage Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Cerebral atrophy OMIM:269920
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Neonatal hyperbilirubinemia OMIM:609727
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, I... OMIM:235555
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:618892
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Splenomeg... ORPHA:766
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Elevated circulating long c... OMIM:608836
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Increased circulating... ORPHA:3240
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... OMIM:601847
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Cholelithiasis, Hyperbilirubinemia, Hep... OMIM:614886
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Abnormality of the pancreas, Tremor, Increased serum bile acid concentration,... ORPHA:69665
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice OMIM:605479
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Elevate... OMIM:617049
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Distal Xq28 Microduplication Syndrome
Absent antihelix, Neonatal hyperbilirubinemia, Microtia ORPHA:293939
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia ORPHA:95717
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Hyperbilirubinemia, Hyperammonemia, Abnormality of the liver, Acute h... ORPHA:1667
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Hyperbi... ORPHA:400
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Li... ORPHA:53035
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice OMIM:235700
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Increased total bilirubin, Hyperuricemia OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
Autoimmune Hepatitis
Hepatocellular carcinoma, Fulminant hepatitis, Increased total bilirubin, Acute hepatitis, Spleno... ORPHA:2137
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperbilirubinemia, Absent gallbladder, ... OMIM:615710
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly OMIM:182900
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Hardikar Syndrome
Cholangitis, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Prolo... OMIM:301068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... ORPHA:562639
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Lathosterolosis
Conductive hearing impairment, Abnormal circulating cholesterol concentration, Elevated hepatic t... OMIM:607330
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia ORPHA:713
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Hyperbilirubinemia, Increased circulating ferritin concentration OMIM:601775
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:266200
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:612653
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia, Macrotia, Jaundice ORPHA:168577
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Increased total bilirubin, Splenomegaly, Increased c... OMIM:603553
Cranioectodermal Dysplasia 2
Cholangitis, Hepatomegaly, Portal fibrosis, Bile duct proliferation, Abnormality of the pinna, Hy... OMIM:613610
Biliary Malformation With Renal Tubular Insufficiency
Biliary hyperplasia, Low-set ears, Conjugated hyperbilirubinemia, Jaundice OMIM:210550
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Prolonged neonatal... ORPHA:288
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:616649
Bor Syndrome
Enlarged cochlear aqueduct, Hypoplasia of the cochlea, Facial palsy, Hearing impairment, Abnormal... ORPHA:107
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia, Hypsarrhythmia, EEG with changes in voltage, EEG with ... ORPHA:95232
Mirizzi Syndrome
Gallbladder perforation, Pancreatitis, Cholelithiasis, Hyperbilirubinemia, Cholesterol gallstones... ORPHA:521219
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Elevated hepatic transaminase, Hyperbilirubinemia, Increased total iron bin... ORPHA:98870
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Cerebellar atrophy, Sensorineural hearing... OMIM:619260
Relapsing Fever
Elevated circulating creatinine concentration, Increased total bilirubin, Elevated hepatic transa... ORPHA:91547
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Head titubat... ORPHA:99027
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prol... ORPHA:206443
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hepatomegaly, Hypokalemia, Hemobilia, Hepatic necrosis, Hyperbilirub... ORPHA:88673
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in b... ORPHA:3008
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated hepatic transam... ORPHA:14
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Congenital hepatic fibrosis, Increase... ORPHA:84081
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Posteriorly rotated ears, Absent gallbladder, Hypocalcemia, Microtia ORPHA:163979
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, Hepatic steatosis, Ele... ORPHA:348
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly ORPHA:90037
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased total bilirubin, Cholelithiasis, Splenomegaly, Increased c... ORPHA:3202
Hereditary Spherocytosis
Hepatomegaly, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Jaundice ORPHA:822
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Cockayne Syndrome Type 1
Optic atrophy, Hepatomegaly, Elevated hepatic transaminase, Macrotia, Absent brainstem auditory r... ORPHA:90321
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Optic nerve hypoplasia, Hand tremor, Absent brainstem auditory resp... ORPHA:101085
Graft Versus Host Disease
Hyperbilirubinemia, Acute hepatitis, Hepatosplenomegaly, Elevated hepatic transaminase, Chronic h... ORPHA:39812
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hearing impairment, Splenomegaly, Increased circulating ferritin concentration, Conjugated hyperb... OMIM:619534
Solute carrier family 4 (anion exchanger), member 1
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:109270
Rh Deficiency Syndrome
Reduced haptoglobin level, Hepatosplenomegaly, Hyperbilirubinemia, Jaundice ORPHA:71275
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased glucose-6-p... OMIM:300908
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Jaundice OMIM:268150
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Head titubation, Neurodegeneration, Hyperbilirubinemia, Isometric tremor, Hearing impairment, Int... OMIM:619475
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Elevated hepatic transaminase, Biliar... OMIM:613471
Fructose Intolerance, Hereditary
Hepatomegaly, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Cirrhosis, He... OMIM:229600
Infantile Krabbe Disease
Optic atrophy, Opisthotonus, Decreased nerve conduction velocity, Hearing impairment, Prolonged b... ORPHA:206436
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Macrotia, Hearing impairment ORPHA:163956
Degcags Syndrome
Hepatomegaly, Macrotia, Posteriorly rotated ears, Hyperbilirubinemia, Hearing impairment, Sensori... OMIM:619488
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency OMIM:110100
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Conjugated... OMIM:208500
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... ORPHA:231222
Trisomy 10P
Abnormal auditory evoked potentials, Low voltage EEG, Macrotia, Posteriorly rotated ears, Absent ... ORPHA:171929
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Neon... ORPHA:90674
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... ORPHA:909
Mogs-Cdg
Optic atrophy, Hepatomegaly, Absent brainstem auditory responses, Sensorineural hearing impairmen... ORPHA:79330
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Bile duct proliferation, Hypocalcemia, Cirrhosis, Hepatic steato... OMIM:613658
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Optic atrophy, Dilatated internal auditory canal, Stapes ankylosis... ORPHA:1435
Cockayne Syndrome A
Optic atrophy, Hepatomegaly, Abnormal auditory evoked potentials, Abnormality of the pinna, Decre... OMIM:216400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the liver, Hyperbilirubinemia ORPHA:464321
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Cockayne Syndrome B
Optic atrophy, Hepatomegaly, Abnormal auditory evoked potentials, Abnormality of the pinna, Decre... OMIM:133540
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Peritonitis, Elevated circulating cre... ORPHA:90038
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydroc... ORPHA:401973
Aromatase Deficiency
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism ORPHA:91
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Oligomenorrhea, Streak ovary, Female infertility, Premature ovarian insuffi... ORPHA:572333
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Splenomegaly, Increased erythrocyte p... ORPHA:79277
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Hypsarrhythmia, Cerebral atrophy OMIM:300896
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decreased serum iron, Increased blood... ORPHA:447
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Schinzel-Giedion Syndrome
Large earlobe, Infantile sensorineural hearing impairment, Aganglionic megacolon, Annular pancrea... ORPHA:798
Turner Syndrome
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:99228
Monosomy X
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:99413
Norrie Disease
Optic atrophy, Macrotia, Sensorineural hearing impairment, EEG abnormality, Protruding ear, Abnor... ORPHA:649

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 Rdx

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 Rdx.

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

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Rdxtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Rdxtm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rdxtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter